Property Summary

NCBI Gene PubMed Count 537
PubMed Score 1039.28
PubTator Score 1343.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Dilated cardiomyopathy 51 0.0 5.0

Expression

  Differential Expression (22)

Disease log2 FC p
Multiple myeloma 1.439 2.1e-02
psoriasis -1.800 9.7e-05
glioblastoma 1.800 2.3e-03
osteosarcoma 1.882 9.3e-04
posterior fossa group A ependymoma 2.200 8.5e-12
atypical teratoid / rhabdoid tumor 1.700 5.8e-05
acute quadriplegic myopathy 1.105 2.5e-05
tuberculosis -3.600 1.7e-07
pancreatic ductal adenocarcinoma liver m... 1.392 1.4e-03
lung cancer -2.300 4.5e-06
sarcoidosis -1.200 1.6e-02
diabetes mellitus -1.700 6.5e-03
pediatric high grade glioma 1.500 3.2e-04
pilocytic astrocytoma 1.300 7.6e-05
primary Sjogren syndrome -1.300 3.2e-02
subependymal giant cell astrocytoma 1.116 4.4e-03
COPD -1.100 8.6e-03
lung carcinoma -1.500 8.7e-11
gastric carcinoma 1.700 4.4e-02
mucosa-associated lymphoid tissue lympho... 1.320 2.2e-02
ovarian cancer 2.300 1.7e-05
pancreatic cancer 1.200 1.1e-02

Protein-protein Interaction (10)

MLP Assay (4)

AID Type Active / Inconclusive / Inactive Description
1459 confirmatory 0 / 343 / 936 Validation of Assay for Modulators of Lamin A Splicing
1487 confirmatory 27 / 46337 / 151734 qHTS Assay for Modulators of Lamin A Splicing
1498 confirmatory 0 / 131 / 21 Confirmation Concentration-Response Assay for Modulators of Lamin A Splicing
493173 summary 0 / 0 / 0 qHTS Assay for Modulators of Lamin A Splicing: Summary

Gene RIF (439)

PMID Text
26977629 In the Russian population, the frequency of congenital muscular dystrophy caused by mutations in the LMNA gene is not less than 12% of all cases of this group of diseases.
26921507 interactions between SIM3 of lamin A and a putative SUMO2-modified protein plays an important role in the reorganization of the nuclear lamina at the end of mitosis.
26876308 Data show that lamins A and B are differently processed in staurosporine and beta-Amyloid peptide fragments Abeta42-treated cells.
26724531 ZMPSTE24 downregulation is a major contributor in VSMC dysfunctions resulting from LMNA mutations or PI treatments that could translate in early atherosclerosis at the clinical level.
26634508 the C to T mutation at the rs4641 locus of LMNA could enhance the risk of DCM, and that rs4641 represented a genetic susceptibility locus.
26573435 This study demonistrated that Muscle MRI/CT identifies a similar pattern of muscle fatty infiltration in patients with mutations in the EMD or the LMNA genes.
26549451 Lamin A promotes SIRT6-dependent DNA-PKcs (DNA-PK catalytic subunit) recruitment to chromatin.
26537870 Lamin A/C deficiency may serve as an independent risk factor for cervical intra-epithelial neoplasia development and as an indicator for preventive therapy in cervical cancer.
26447202 Lamin A/C knockdown increased shear stress-induced tumor cell apoptosis.
26439802 Development of tumor initiating cells in neuroblastoma is due to an increased expression of MYCN gene. In neuroblastoma an inverse relationship exists between LMNA and MYCN expression.
26359359 Data show that all-trans retinoic acid acts synergistically with rapamycin reducing progerin and prelamin A.
26323789 The cardiomyocytes carrying the LMNA D192G mutation have an increased nuclear Young modulus compared to control NRVMs as well as NRVMs expressing wild-type LMNA.
26312502 The authors find that LAP2alpha (lamina-associated polypeptide-alpha) interacts with lamin A, while its interaction with progerin is significantly reduced.
26309016 expression of wild-type LMNA restores the mechanical properties of mutant Neonatal rat ventricular myocytes.
26290387 LMNA gene mutation is associated with premature aging.
26165385 The study identified three patients with Emery-Dreifuss muscular dystrophy exhibiting the same dominant LMNA mutation and presenting with a spectrum of severe cardiac abnormalities.
26098624 mutations (c.91G>A, c.94_96delAAG, c.116A>G, c.745C>T, c.746G>A, and c.1580G>C) were well correlated with Emery-Dreifuss muscular dystrophy.
26092935 The findings unveil a unique mechanism where the nuclear periphery proteins lamin-A/C, LAP2alpha and BAF1 are assembled into a protein complex during mitosis in order to regulate assembly and positioning of the mitotic spindle.
26034236 LMNA associated muscular dystrophy mimicks inflammatory myopathies.
26029982 The accumulation of mutant lamin A compromised prophase to prometaphase transition leading to invaginations of the nuclear lamina, nuclear fragmentation and impaired chromosome condensation.
25996830 LMNA mutations activate an intracellular signaling pathway and alter the redox homeostasis of muscle tissue.
25996284 Sustained accumulation of prelamin A and depletion of lamin A/C both cause oxidative stress and mitochondrial dysfunction but induce different cell fates.
25948554 Three-dimensional mapping of the lamin A-matrin-3 interface showed that the LMNA truncating mutation Delta303, which lacks the matrin-3 binding domain, was associated with an increased distance between lamin A and matrin-3.
25873806 Case Report: 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left ventricular noncompaction.
25846419 our studies demonstrate that lamin A/C plays a significant role in the differentiation of both osteoblasts and adipocytes by regulating some of the elements of Wnt/b-catenin signaling during early MSC differentiation
25837155 A novel mutation in the LMNA gene causes arrhythmogenic cardiac laminopathy in a multigenerational Italian family.
25819867 there is a relationship between mutated prelamin-A accumulation and the severity of the phenotypes in homozygous familial partial lipodystrophy type 2 patients who harbor the LMNA T655fsX49 mutation.
25807068 The tail domain of lamin B1 is more strongly modulated by divalent cations than lamin A.
25793944 Phosphorylation of lamins determines their structural properties and signaling functions.
25753664 Caveolin 2 disengages repressed Egr-1 and JunB promoters from lamin A/C through disassembly of H3K9me3 in the inner nuclear membrane.
25649378 We report for the first time the frequent expression of a 270-nt-deleted prelamin A transcript (encoded by LMNA) that had only been evidenced before in patients affected with restrictive dermopathy
25645366 53BP1 binds to lamins A/C via its Tudor domain, and this is abrogated by DNA damage. Lamins A/C regulate 53BP1 levels and consequently lamin A/C-null HDF display a 53BP1 null-like phenotype.
25572245 this is the first report of a novel LMNA mutation in Chinese patients with limb-girdle muscular dystrophy
25567453 Suggest that progerin disturbs critical stem cell functions collectively required for proper tissue repair.
25556323 Hutchinson-Gilford progeria syndrome caused by LMNA mutation.
25535984 These results identify SNX6 as a key regulator of lamin A synthesis and incorporation into the nuclear envelope.
25524705 Mutated A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.
25509159 Nuclear LMNA regulates osteogenic differentiation of mesenchymal stem cells.
25499720 Results suggested that loss of lamin A but not lamin C expression in epithelial ovarian cancer was related to metastasis and poor prognosis.
25498755 A novel pathogenic mutation in lamin a/c was associated with familial dilated cardiomyopathy with sudden cardiac death.
25482193 Here, we discuss the possible physiological relevance and functional context of lamin A/C in T cell activation and propose a model in which lamins A/C are key modulators of immune cell functions.
25460776 Studies provide insights into the mechanisms of laminopathies that are caused by a large number of mutations in the LMNA gene, as well as in genes encoding lamin A processing proteins or genes encoding lamin-binding partners. [Review]
25457755 It was hypothesized that mechanical dispersion by strain echocardiography may be a marker of ventricular arrhythmias in those with LMNA mutations.
25343322 The study characterizes the unfolding mechanism of Lamin A Ig fold by single-molecule force spectroscopy in relation to implications in Emery-Dreifuss Muscular Dystrophy.
25319090 E203G mutant may inhibit the normal functions of wild-type lamin A in a dominant-negative manner, but a defect in SUMOylation itself may not be involved in disease pathogenesis.
25256213 Fiber type disproportion has been reported only anecdotally in muscle biopsies of patients with LMNA mutations
25200614 Prelamin A accumulation in endothelial cells has a role in inducing premature senescence and functional impairment
25127216 Matrix stiffness couples to myosin-II activity to promote lamin-A,C dephosphorylation at Ser22, which regulates turnover, lamina physical properties, and actomyosin expression. Lamin-A,C phosphorylation is low in interphase versus dividing cells.
25090270 the expression of the reverse sm22alpha-transactivator was barely detectable in the arteries, and this low level of expression was not sufficient to induce the expression of the target human lamin A minigene
25005744 Studies indicate that progeria is characterized predominantly by a unique heterozygous autosomal point mutation in LMNA gene.
24943589 The results suggest that impaired nuclear transport of certain prelamin A mutants may represent a contributing factor in the pathogenesis of certain laminopathies.
24892300 it is possible to induce progerin expression in myogenic cells using splice-switching oligonucleotides to redirect splicing of LMNA.
24806962 Human myoblasts with LMNA mutations have mechanosensing defects through a YAP-dependent pathway.
24757177 These findings underscore the importance of A-type lamins for TCR activation and identify lamin-A as a previously unappreciated regulator of the immune response.
24753226 combination of prelamin A accumulation and stress conditions enhance the aging phenotype by dysregulating the activity of the octamer binding protein Oct-1
24741066 Different phosphorylation combinations yield markedly different effects on the assembly, subunit turnover and the mobility of lamin A between, and within, the nuclear lamina.
24656463 2 unrelated patients with mutation in the LMNA gene exhibited clinical phenotypes overlapping Emery-Dreifuss muscular dystrophy and limb girdle muscular dystrophy type 1B; a heterozygous mutation in patient 1 (Q15X, c.43C>CT) and in patient 2 (R249W)
24642510 This study showed that Congenital fiber type disproportion myopathy caused by LMNA mutations.
24623722 Loss of tissue-specific lamin A interactions may be a mechanism for the tissue-specific appearance of laminopathic phenotypes.
24592738 We show that mutant LMNA/C promotes differentiation capacity of mesenchymal stem cells as seen by morphological changes and by expression of specific adipose markers
24523287 Stable attachment of progerin to the nuclear membrane disrupts the Ran gradient and results in cytoplasmic localization of Ubc9, a Ran-dependent import cargo.
24522183 Mutant lamin A and SUN1 induce abnormalities in the nuclear envelope and endoplasmic reticulum in Hutchinson-Gilford progeria syndrome.
24485160 LMNA sequencing revealed a heterozygous missense mutation (c.1543A>G) in exon 9, leading to substitution of lysine by glutamic acid at position 515 (K515E).
24375749 Molecular characteristics of disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C.
24349489 heterozygous missense mutation (c.G695T, Gly232Val) in the lamin A/C (LMNA) gene as a candidate mutation for susceptibility to CCD
24343626 A mutation in the LMNA gene is a determinant of clinical, biochemical and hormonal changes that imply in metabolic deterioration in mutation carriers.
24315443 progerin-induced aging can be used to reveal late-onset age-related disease features in human induced pluripotent stem cells-based disease models.
24294364 Report age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.
24293108 Higher levels of A-type lamins and lamin B1 mRNA expression were seen in associated non-cancerous tissue. Higher lamin A/C expression was associated with the early clinical breast cancer stage, with better clinical outcomes.
24211782 We propose that heterodimerization of bradykinin B2 receptor with lamin C is essential to nuclear localization of bradykinin B2 receptor and plays an important role in cell signaling and function.
24108105 Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482W mutation elicits a myogenic gene expression program in preadipocytes.
24101728 miR-141-3p, which is overexpressed during senescence as a result of epigenetic regulation, is able to decrease ZMPSTE24 expression levels, and leads to an upregulation of prelamin A in human mesenchymal stem cells.
24080738 We report a genetic link between LMNA and biopsy-proven FSGS in a large pedigree with FPLD.
24067370 Loss of VHL promotes progerin expression, leading to impaired p14/ARF function and suppression of p53 activity.
24058181 Prolonged PR-interval was the best predictor of ventricular arrhythmias in Lamin A/C mutation-positive subjects.
24041693 Co-localization experiments by fluorescent confocal microscopy revealed that FAM96B colocalized with prelamin A in HEK-293 cells.
24040437 It is unlikely that changes in the patterns of LMNA splicing in sporadic inclusion body myositis or defective post-translational processing of prelamin A are involved in the pathogenesis of the disease.
24037902 Report LMNA mutations in dilated cardiomyopathy.
24034385 LMNA protein mutation was evident in patients diagnosed with Hutchinson-Gilford progeria syndrome in China.
24002959 FPLD was recognised under the circumstances of diabetes treatment, where sequencing of LMNA gene revealed heterozygous R482W mutation
24001739 heterozygosity for the nonsense mutation of LMNA causes nonsense-mediated mRNA decay degradation of the mutant transcripts blocking expression of the truncated mutant lamin A
23990565 Tissue stiffness and stress thus increase lamin-A levels, which stabilize the nucleus while also contributing to lineage determination.
23977161 Each mutation in LMNA has a distinct impact on the Nersprin-2 interaction that substantially explains how distinct mutations in widely expressed genes lead to the formation of phenotypically different diseases.
23923041 The innate immunity adaptor SARM translocates to the nucleus to stabilize lamins and prevent DNA fragmentation in response to pro-apoptotic signaling.
23912926 a novel mutation of lamin A/C presented in the typical form of cardiolaminopathy with ventricular tachycardia and mild myocardial dysfunction in an apparently healthy, middle-aged individual.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages
23861385 proposde that lamin A/C acts as a modulator of local gene expression outcome through interaction with adjustable sites on promoters, and that these position-dependent transcriptional readouts may be reset upon differentiation
23850366 The results demonstrate that Bacteroides fragilis Bfp60 surface adhesin is responsible for the recognition of laminin and plasminogen-plasmin activation.
23846499 LMNA p.R482 mutations, responsible for familial partial lipodystrophy, exert a direct proatherogenic effect in endothelial cells, which could contribute to patients' early atherosclerosis.
23831462 Changes in vimentin, lamin A/C and mitofilin expression induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients.
23811080 Implantable cardioverter-defibrillator is an effective treatment in cardiac conduction disorders with lamin a/c mutation for the prevention of sudden cardiac death and ventricular arrhythmias.
23793583 The LMNA gene insertion mutation (T510Y frameshift mutation) can cause dilated cardiomyopathy, conduction system disease, and sudden cardiac death.
23746545 report on a 46-year-old female patient with a heterozygous p.R28W LMNA mutation, who presented with a novel clinical phenotype comprising severe limb-girdle muscular dystrophy
23702046 Dilated cardiomyopathy patients with LMNA mutations have poor prognosis, however considerable clinical variability is present among family members.
23701190 Lamin A protein mutations cause significant alterations in the secondary and tertiary structure in dilated cardiomyopathy
23684604 A mutation in lamin A/C was identified in a case of cardiomyopathy with overlap features of arrhythmogenic right ventricular dysplasia (ARVC).
23666920 a LMNA mutation distal from the lamin A tail leads to LMNA-associated cardiocutaneous progeria syndrome
23659872 We report a novel lamin A/C (LMNA) mutation, p.Glu223Lys, in a family with extensive atherosclerosis, diabetes mellitus and steatosis hepatis.
23631840 A whole-exome analysis of a multiplex family with dilated cardiomyopathy (DCM) exhibiting gender difference revealed a DCM-linked LMNA mutation, p.R225X. LMNA-linked DCM patients demonstrated a nuclear accumulation of androgen receptor.
23605101 12 CpG sites Of LMNA gene differed significantly between two groups while the remaining eight CpG sites differed non-significantly.
23582089 In patients with the LMNA mutation, the majority had ECG abnormalities related to ventricular dysfunction.
23564641 Prelamin A accelerates vascular calcification via activation of the DNA damage response and senescence-associated secretory phenotype in vascular smooth muscle cells.
23450819 This review suggested that there is no single explanation of how LMNA gene alterations may cause these disorders.
23430973 Akt phosphorylation at S404 targets the precursor prelamin A for degradation. Akt also regulates Lmna transcription.
23427149 Specific myopathic lamin A mutations interfere with lamin assembly and result in a loss of nuclear stability.
23349452 A PLN founder mutation and LMNA mutations were most prevalent and often demonstrated a specific phenotype in dilated cardiomyopathy patients
23329710 Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue.
23328570 Letter: cine MRI showed that myocardial fibrosis is an intrinsic feature of cardiomyopathy in LMNA mutation carriers.
23324461 LMNA mutant cells can lack the characteristic actin cap running above the nucleus.
23319047 Lamin A/C has a role in the restart of stalled replication forks.
23313286 We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA).
23243001 SUMO1-modification of the lamin A tail is reduced by two familial partial lipodystrophy-causing mutations, G465D and K486N.
23197810 Sp1 transcription factor interaction with accumulated prelamin a impairs adipose lineage differentiation in human mesenchymal stem cells: essential role of sp1 in the integrity of lipid vesicles.
23183350 This large cohort of LMNA mutation carriers demonstrates a high cardiac disease penetrance and a high mortality in mutation carriers.
23073275 Lamin A mutation is independently associated with increased risk of arterial and venous thromboemolism complications.
23064282 Cardiac and skeletal muscle pathology in transgenic mice can be attributed to elevated MTORC1 signaling leading to impairment of autophagic flux.
23062543 Reduced expression of LMNA gene is a biomarker for cardiolaminopathies with parallel loss of protein expression in cardiomyocytes.
23049808 Lamin A/C plays a central role in the differentiation of human neuroblastoma cells; the loss of this protein gave rise to a more aggressive tumor phenotype.
23048029 Dusp4 mediates cardiomyopathy caused by LMNA gene mutation.
22893709 Expression of the Hutchinson-Gilford progeria mutation in lamin A during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties
22840390 miR-9 negatively controls lamin A and progerin expression in neural cells.
22806367 Cardiac involvement represents a very common phenotypic expression of LMNA gene mutation.
22773734 LMNA missense mutation caused abnormal p38alpha signaling in dilated cardiomyopathy.
22700598 LMNA mutations are identified in phenotypically diverse lipodystrophies.
22560296 S100A6 interacts with lamin A/C, a protein known to be implicated in colon carcinogenesis.
22555846 Indoxyl sulfate accelerates senescent vascular smooth muscle cells via upregulation of p53, p21, and prelamin A by oxidative stress in a nephrectomized uremic rat model.
22549407 novel homozygous c.1580G>T LMNA mutation found in 3 patients with mandibuloacral dysplasia and progeria.
22533413 the Lamin-A regulatory network has epigenetic involvement in Hutchinson-Gilford progeria syndrome
22431096 The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygote mutation in exon 4 of LMNA
22413764 LMNA mutations are not a frequent cause of atrial fibrillation even when conduction disease is present.
22340368 Results suggest that LMNA variants may play a role in human lifespan.
22326558 study describes the biochemical phenotype of neuromuscular laminopathies in samples derived from LMNA mutant patients
22301279 data suggest that lamin A/C proteins are positively involved in malignant behavior of PC cells through the PI3K/AKT/PTEN pathway. Lamin A/C may represent a new oncogenic factor and a novel therapeutic target for PC
22281253 Carriers of LMNA mutations with a high risk of MVA can be identified using these risk factors. This facilitates selection of LMNA mutation carriers who are most likely to benefit from an ICD.
22266370 the mutations R335W and E347K may interfere with the binding of components within the nuclear lamina, or of nuclear factors, that have been proposed to interact/associate with lamin A/C in dilated cardiomyopathy .
22231515 lamin A is up-regulated in osteoarthritis chondrocytes, and that increased nuclear accumulation of lamin A in response to catabolic stress may account for the premature aging phenotype and apoptosis of osteoarthritis chondrocytes.
22224630 In six small nuclear families with dilated cardiomyopathy heterozygous mutations in LMNA were identified.
22199124 Lamin A/C gene mutations can be found in severe forms of arrhythmogenic right ventricular cardiomyopathy and should be added to desmosomal genes when genetically testing patients with suspected ARVC when they also have ECG evidence for conduction disease.
22186027 LMNA variants caused cytoplasmic distribution of nuclear pore proteins in human muscle from patients with muscle weakness characteristic of muscular dystrophy.
22079058 Human age-related nuclear cataract is not associated with LMNA gene mutations or truncation of lamin A.
22071332 The present study gives evidence that blood glutathione decrease in subjects with LMNA mutation is associated with early cardiac involvement
22065502 Heterozygous mutations of the LMNA gene were found in two patients with coronary artery disease with a Werner syndrome-like form of progeria.
22057372 expression of lamin A/C was not suppressed in gastrointestinal cancer cell lines different from hematologic malignant cells and it is not regulated through DNA methylation.
22029807 Large deletions and duplications were screened in 58 dilated cardiomyopathy probands negative for point mutations in LMNA.
21993218 In vitro, the tail regions of prelamin A, lamin A and lamin C bind a polypeptide of SREBP1.
21982404 Mutations in LMNA cause more than 10 different disorders, called "laminopathies." These diseases affect tissues in a specific (striated muscle, adipose tissue, peripheral nerve) or in a systemic manner (premature ageing syndromes). Review.
21980471 low and high expressing alleles of the LMNA gene
21945321 only cervical fat from patients with LMNA mutations or who had received protease inhibitor therapy accumulated prelamin A and exhibited similar remodeling toward a brown-like phenotype with UCP1 overexpression and mitochondrial alterations
21941106 Lamin A sheets made from E145K filaments have a higher Young's modulus compared to wild type filaments.
21915271 Data suggest that activation of LMNA alternative splicing is involved in vascular remodeling in the circulatory system during normal neonatal ductus arteriosus closure.
21903150 results of our study of Chinese elderly males without dementia did not support the findings in a UK elderly population that polymorphism in the LMNA and near a SERPINA13 gene may affect cognitive function in the elderly.
21875900 Changes in the splicing ratio between lamin A and progerin are key factors for lifespan.
21846512 LMNA mutations represent the most prevalent genetic cause for dilated cardiomyopathy.
21818408 A dominant LMNA mutation, E161K, that causes inherited cardiomyopathy was studied.
21724554 Three of 87 patients with metabolic syndrome carry a heterozygous mutation in LMNA or in ZMPSTE24.
21689390 Cardiac magnetic resonance imaging is an accurate tool to determine the typical cardiac involvement in lamin A/C dilated cardiomyopathy.
21670498 Results suggest a synergistic relationship between telomere dysfunction and progerin production during the induction of cell senescence, providing mechanistic insight into how progerin may participate in the normal aging process.
21670151 the cellular effects of progerin expression in Hutchinson-Gilford progeria syndrome are transduced, at least in part, through reduced function of the Ran GTPase and E2 SUMOylation pathways
21655223 Data found that expression of lamin A but not lamin C partly restored the nuclear envelope localization of SUN2.
21632249 LMNA mutation should be considered in myopathy patients with inflammatory changes during infancy
21627864 The loss of nuclear envelope structural proteins lamin A/C in breast cancer underlies the two hallmarks of cancer aberrations in nuclear morphology and aneuploidy.
21621406 Study indicates that LMNA protein expression has potential as a prognostic biomarker to aid therapy selection for stage II and III colon cancer patients. In particular, patients with LMNA-low expressing tumours may benefit from adjuvant chemotherapy.
21599722 LMNA 1908T/T and C/T genotypes emerged as independent genetic risk factors for generalized obesity in Asian north Indians.
21596650 The results focused gene correction of multiple mutations on lamin A (LMNA), which are associated with various degenerative diseases.
21535365 Depletion of lamin A in primary cells does not increase cell proliferation but triggers a senescent cell cycle arrest.
21486941 Data provide evidence that 4.1R has functional interactions with emerin and A-type lamin that impact upon nuclear architecture, centrosome-nuclear envelope association and the regulation of beta-catenin transcriptional co-activator activity.
21462476 The article presents clinical description of nucleopathies in children, their causative mutations and pathophysiology.
21462202 The first mutation on the LMNA gene that interferes with the polypyrimidine tract has been discovered and described.
21439080 conclude that the loss of nuclear envelope structural proteins, such as lamin A/C, may underlie two of the hallmarks of cancer--aberrations in nuclear morphology and aneuploidy.
21406687 Results identify a complex LMNA gene rearrangement involving a double deletion in a 4-generation Dutch family with progressive conduction system disease.
21400569 Studies indicate that the majority of laminopathies are caused by mutations in the LMNA gene, encoding lamin A/C, but manifest as diverse pathologies including muscular dystrophy, lipodystrophy.
21350821 Upon 18 days of fat cell differentiation, the fraction of adipocytes expressing lamins A, C and B1 at the nuclear rim increased, though overall lamin A/C protein levels were low.
21346069 We reveal that a homozygous mutation of prelamin-A preventing its farnesylation leads to a severe lipodystrophic laminopathy in humans
21327842 Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy
21327074 recombinant C-terminal tail domain of human A- and B-type lamins binds directly to purified actin
21311568 These results demonstrate that the interplay between SUN1 and farnesylated prelamin A contributes to nuclear positioning in human myofibers and may be implicated in pathogenetic mechanisms.
21289091 Data suggest that a pool of Nup88 on the nuclear side of the nuclear pore complex provides a novel, unexpected binding site for nuclear lamin A.
21179469 LMNA mutations perturb the intranuclear positioning and compaction of chromosomal domains
21151901 LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart
21085127 The role of LMNA mutations at position R541 in dilated familial cardiomyopathy cases with segmental LV wall motion akinesis/dyskinesis.
20974128 accumulation of any partially processed prelamin A protein alters cellular homeostasis to some degree, even though the most dramatic effects are caused by variants with a permanently farnesylated carboxyl-terminal tail.
20886652 study reports the genetic and clinical characteristics of two unrelated LMNA-related congenital muscular dystrophy patients; patient 1 harbored a novel, L35P mutation and patient 2 a previously reported R249W mutation
20884875 HIV protease inhibitors triggered premature senescence in endothelial cells by a mechanism involving prelamin A accumulation.
20848652 15 novel mutations of Emery-Dreifuss muscular dystrophy characterized in study and include 8 missense mutations, 3 splice site mutations, 1 duplication/in frame insertion, 1 deletion, and 2 silent mutations.
20819672 The data suggest that selective deficiency of lamin C protein is associated with a case of laminopathy with ovarian cystadenoma.
20732854 Data show that the maximum lamin A/C gene silencing efficiency occurred at Day 2 or 3.
20709679 Two sequence variations c.269G-->A and c.274A-->G were detected in LITAF gene and two sequence variations c.1243G-->A and c.1910C-->T were detected in LMNA gene in Chinese Charcot-Marie-Tooth disease.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20627339 NT-proBNP reliably detected the presence of reduced LV/RV contractility in LMNA patients.
20625965 We present the first Polish family with Familial Partial Lipodystrophy confirmed genetically with a heterozygous LMNA mutation.
20615561 Arg101Pro mutation of the lamin A/C gene can have limb girdle muscular dystrophy 1B phenotype
20605919 Findings establish that HGPS premature cellular senescence results from progerin-induced telomere dysfunction.
20581439 These findings are supported by coimmunoprecipitation of prelamin A or progerin with BAF in vivo and suggest that BAF could mediate prelamin A-induced chromatin effects.
20526372 The dynamics of LaA processing and associated cellular effects during PI or FTI treatment and following inhibitor washout, was investigated.
20501691 The LMNA rs4641 T-allele is associated with increased lean body mass and fat mass with more fat relative to muscle in elderly twins, which may impact risk of type 2 diabetes.
20501691 Observational study of gene-disease association. (HuGE Navigator)
20498703 Mislocalized lamins can induce ubiquitin-mediated proteasomal degradation of certain HP1 isoforms by activation of FBXW10, a member of the F-box family of proteins that is involved in E3 ubiquitin ligase activity.
20497714 findings suggest that LMNA E82K significantly reduced the Cx43 expression and altered its localization which may be one of the pathological mechanisms underlying LMNA-related heart disease
20485444 Observational study of gene-disease association. (HuGE Navigator)
20474083 Observational study of genetic testing. (HuGE Navigator)
20458013 study shows that prelamin A is a novel biomarker of vascular smooth muscle cell aging and disease that acts to accelerate senescence
20307303 novel missense mutation (R189W), near the most prevalent lamin A/C mutation (R190W), suggesting a "hot spot" region at exon 3 in dilated cardiomyopahty
20160190 Analyses of the LMNA variants in nonsegregation pedigrees identified in our DCM cohort support pathogenicity of 4 of 6 and argue for the existence of a second, unidentified causative factor in these families.
20155465 The E82K mutation caused atrioventricular block as the prominent phenotype in dilated cardiomyopathy in this family.
20147387 These results suggest that essential roles of Epstein-Barr virus BGLF4 during lytic viral replication include the phosphorylation and dispersion of lamin A/C.
20130076 Our study suggests imbalance between lipid oxidation and oxidative glucose metabolism in Type 2 familial partial lipodystrophy and LGMD1B patients
20127487 A large deletion in LMNA associated with reduced levels of the protein in the nuclear envelope suggests a haploinsufficiency mechanism that can lead to cardiomyocyte nuclear envelope disruption and underlie the pathogenesis of dilated cardiomyopathy.
20092787 R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.
20079404 Lamin A-type lamins affect both nuclear membrane and telomere dynamics, as demonstrated in nonsense mutations in progeria.
20054742 Certain patients presenting a typical EDMD phenotype in which no mutations in the EMD or LMNA genes can be confirmed. This may indicate that an Emery-Dreifuss-like dystrophy could also be associated with mutations in other genes.
20045150 low lamin A/C expression in SC adipose tissue is associated with significant alterations in the lipid profile and increased fat cell lipolysis, independent of the level of total or abdominal adiposity.
20041886 further evidence of association of a multisystem dystrophy syndrome in familial partial lipodystrophy patients harboring amino-terminal mutations in LMNA
20004208 These findings indicate that a lamin dimer principally has the freedom for a "combinatorial" head-to-tail association with all types of lamins, a property that might be of significant importance for the assembly of the nuclear lamina.
19958786 Progerin triggers accumulation of oxidized proteins, ATP decrease and MnSOD overexpression in fibroblasts from Hutchinson Gilford progeria patients.
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19938095 Mutations in Lamin A/C (LMNA) gene in four Wiedemann-Rautenstrauch syndrome patients, and in particular.
19933576 perturbations in lamin A-SUN1 and SUN2 protein interactions may underlie the opposing effects of EDMD and HGPS mutations on nuclear and cellular mechanics
19926845 The results show that the central rod domain mutation affects nuclear architecture in a fashion distinctly different from the changes found in the most common form of progeria caused by the expression of LADelta50/progerin.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19882644 LMNA-gene-mutated patients devoid of any clinically detectable skeletal muscle involvement have the same pattern of leg muscle involvement as patients with overt skeletal muscle compromise.
19875478 study reports 11 patients with atypical progeroid syndrome from 9 families, many with novel heterozygous missense LMNA mutations, such as P4R, E111K, D136H, E159K & C588R; these and previously reported patients now reveal a spectrum of clinical features
19875404 The LMNA gene consists of 12 exons and encodes the intermediate filament proteins Lamin A and C, which maintain the structural integrity of the nuclear envelope and organize chromatin within the nucleus.
19875404 Observational study of gene-disease association. (HuGE Navigator)
19859838 A clinical picture related to the LMNA Arg482Gln mutation may be more diversified than it was previously considered and include low BMI and pulmonary fibrosis.
19859838 Observational study of gene-disease association. (HuGE Navigator)
19855837 analysis of Drosophila and human A-type lamins
19841875 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19775189 Results show that decline in Hela lamin A/C expression correlates with modified cell signaling and minor alterations in metabolism coupled with changes in expression in structural proteins of the cytoskeleton.
19768759 the exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation is associated with a novel phenotype featuring cardiac involvement followed by late lipodystrophy, diabetes, and peripheral axonal neuropathy.
19680556 Observational study of gene-disease association. (HuGE Navigator)
19672032 Observational study of gene-disease association. (HuGE Navigator)
19645629 results suggest that LMNA, ZMPSTE24, and LBR sequence variations are not major genetic determinants involved in scleroderma pathogenesis
19644448 These findings reveal the existence of an 80 bp D4Z4 human subtelomeric repeat sequence that is sufficient to position an adjacent telomere to the nuclear periphery in a CTCF and A-type lamins-dependent manner.
19638735 Lamin A/C gene mutations may have a role in familial cardiomyopathy with advanced atrioventricular block and arrhythmia
19589617 Impaired nuclear functions lead to increased senescence and inefficient cell differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene.
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19574635 The crystal structure of the lamin A/C mutant R482W, a variant that causes FPLD, has been determined at 1.5 A resolution.
19524666 Results suggest that a functional emerin-lamin A/C complex is required for cell spreading and proliferation, possibly acting through ERK1/2 signalling.
19490114 Data demonstrated that the phosphorylation of hsMOK2 interfered with its ability to bind lamin A/C.
19446900 We describe 7 transplanted heart recipients from a single family with limb-girdle muscular dystrophy type 1B linked to a mutation of the LMNA gene in the splice donor site of the exon 9 (IVS 9+1:g>a).
19442658 This is the first study of a direct link between LaA mutant expression and reduced nuclear protein import.
19427440 LMNA mutations rarely cause lone AF and routine genetic testing of LMNA in these patients does not appear warranted.
19427440 Observational study of gene-disease association. (HuGE Navigator)
19424285 Mutations in the LMNA gene do not cause axonal Charcot-Marie-Tooth.
19424285 Observational study of gene-disease association. (HuGE Navigator)
19401371 Common variation in the lamin a/c gene does not contribute to the etiology of PCOS in women of European ancestry.
19401371 Observational study of gene-disease association. (HuGE Navigator)
19384091 Lamin A/C deficiency is an important cause of dilated cardiomyopathy.
19351612 inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells
19328042 mutations in LMNA were identified in individuals with isolated cardiac involvement, specifically DCM, AVB, and infrequently atrial arrhythmias, including AF
19323649 Non-farnesylated and farnesylated carboxymethylated lamin A precursors in human fibroblasts modifies emerin localization.
19318026 Observational study of genetic testing. (HuGE Navigator)
19283854 Two unrelated young women experienced premature ovarian failure, and both were found to have the same heterozygous novel missense mutation c.176T>G in exon 1 of the LMNA gene.
19270485 Atypical Werner's syndrome with the severe metabolic complications, the extent of the lipodystrophy is associated with A133L mutation in the LMNA gene and these patients present with phenotypically heterogeneous disorders.
19247430 Regulation of the D4Z4 array depends on both the number of repeats and the presence of CTCF and A-type Lamins in facio-scapulo-humeral dystrophy.
19220582 The R439C mutation causes oligomerization of the C-terminal globular domain of lamins A and C, which increases its binding affinity for DNA.
19204888 Male subjects with familial partial lipodystrophy due to a lamin A/C R482W mutation may develop metabolic abnormalities. including hypoleptinemia
19201734 Transgenic mice express the LMNA mutation that causes familial partial lipodystrophy of the Dunnigan type (FPLD2). The phenotype in FPLD-transgenic mice resembles human FPLD2, including lack of fat accumulation, insulin resistance, and fatty liver.
19172989 lamin A Delta 150 transcript is present in unaffected controls but its expression is >160-fold lower than in HGPS patients. Lamin A Delta 150 transcript increases in late passage cells from HGPS patients and parental controls.
19144202 lamin A/C is involved in the pathogenesis of gastric carcinoma
19141474 Silencing lamin B1 expression dramatically increases the lamina meshwork size and the mobility of nucleoplasmic lamin A
19126678 process of adipogenesis is affected by a dynamic link between complexes of emerin and lamins A/C at the nuclear envelope and nucleocytoplasmic distribution of beta-catenin, to influence cellular plasticity and differentiation.
19124654 Lamin A/C-mediated neuromuscular junction defects contribute to the autosomal dominant Emery-Dreifuss muscular dystrophy disease phenotype
19084400 We present a consanguineous family in which two children have early onset LMNA-related myopathy likely due to paternal germinal mosaicism.
19022376 Knockdown of A-type lamins and emerin in HeLa and C2C12 stimulated phosphorylation and nuclear translocation of ERK as well as activation of genes encoding downstream transcription factors.
19015316 Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelope.
18982914 Progeria is caused by mutation in the gene of LMNA, encoding a nuclear protein, lamin A, which has been shown to affect RNA polymerase II transcription.
18959190 During detailed studies of the cells from this patient the nuclear lamina aberrations were detected.
18950579 The intranuclear accumulation of lamin A precursors which cannot be fully processed & exert a toxic effect on nuclear homeostasis leads to various genetic syndromes. Review.
18946024 plasma-membrane-anchored growth factor pro-amphiregulin binds A-type lamin and regulates global transcription
18926329 Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias.
18923140 Results suggest that prelamin A is imported directly into the nucleus where it is processed by Zmpste24 and Icmt, which exhibit a dual localization to the inner nuclear membrane as well as the ER membrane.
18848371 The mechanisms underlying the associations with cognitive impairment and LOAD require further elucidation, but both genes are interesting candidates for involvement in age-related cognitive impairment.
18848371 Observational study of gene-disease association. (HuGE Navigator)
18843043 Data show that hTERT activity or inactivation of p53 can suppress the cell proliferation defects associated with lamin A mutants that are incorrectly processed.
18830724 Meta-analysis of gene-disease association. (HuGE Navigator)
18816602 We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene.
18805829 prelamin A accumulation in peripheral scAT is associated with a reduced expression of several genes involved in adipogenesis.
18795223 Testing LMNA in families of people with familial dilated cardiomyopathy is recommended because genotype information in an individual could definitely be useful for the clinician.
18767923 lamin A/C is essential for proper RANKL-dependent osteoblastogenesis
18714801 Studiy identified a large French Canadian family with the LGMD 1B phenotype and a cardiac conduction disease phenotype that carried a new new (IVS9-3C > G) LMNA gene mutation.
18714339 Report links A-type lamin expression to colorectal tumour progression and raises the profile from one implicated in multiple but rare genetic conditions to a gene involved in one of the commonest diseases in the Western World.
18691775 we present a family with sudden cardiac death in the absence of left ventricular dysfunction, related to a Lamin A/C mutation
18667561 Binding of T. foetus to LMN-1 rendered the parasite toxic to HeLa cell monolayers.
18646565 Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD).
18643848 In human keratinocytes, we found BMP-4 facilitates trichohyalin (THH) transcription, and lamin C plays a key role in the posttranslational stabilization of THH.
18612243 The silencing of lamin A/C expression resulted in a decrease in the volume and surface area of chromosome territories, especially in chromosomes with high heterochromatin content.
18611980 A mutation within the LMNA gene is associated with heart-hand syndrome of Slovenian type.
18606848 These results suggest that SUMO modification is important for normal lamin A function and implicate an involvement for altered sumoylation in the E203G/E203K lamin A cardiomyopathies.
18604166 results indicate that accumulation of the lamin A precursor protein determines a defect in DNA damage response after X-ray exposure, supporting a crucial role of lamin A in regulating DNA repair process and cell cycle control
18585512 Observational study of gene-disease association. (HuGE Navigator)
18564364 the first cases of laminopathies from Russia are reported: In 10 unrelated families, 9 different mutations were identified and three phenotypes were observed
18551513 study describes a new entity of congenital muscular dystrophies caused by de novo LMNA mutations
18549403 Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.
18538321 The inability of lamin C mutants to join the nuclear rim in the absence of lamin A is a potential pathophysiological mechanism for laminopathies.
18524819 lamin A/C, lamin B1, and viral US3 kinase have roles in viral infectivity, virion egress, and the targeting of herpes simplex virus U(L)34-encoded protein to the inner nuclear membrane
18502446 D192G mutation in LMNA gene may lead to the disruption of the nuclear wall in cardiomyocytes, thus supporting the mechanical hypothesis of dilated cardiomyopathy development in humans, which might be mutation-specific.
18497734 Lamin A/C may be involved in the adipocyte gene profile observed in obesity and type 2 diabetes.
18478590 This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation.
18442998 Expression of progerin leads to alterations in nuclear morphology, which may underlie pathology in Hutchinson-Gilford progeria syndrome.
18442054 bone resorption activity of osteoclasts obtained in the presence of high prelamin A levels is lower with respect to control osteoclasts
18396274 The influence of expression of the Emery-Dreifuss muscular dystrophy R453W mutation and of the Dunnigan-type partial lipodystrophy R482W mutation of lamin A on transcription and epigenetic regulation of the myogenin gene and on chromatin organization.
18364375 In these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility, and gestational diabetes was higher than in the general population.
18348272 Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
18339564 We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene.
18337098 patients bearing a LMNA gene mutation associated to an apparently selective cardiac phenotype may present subclinical skeletal muscle involvement
18311132 Data suggest that Lamin A-dependent misregulation of adult stem cells is associated with accelerated aging.
18308323 Systematic comparison of the mechanical behavior of the wild-type protein and a missense mutated protein with the point mutation p.Glu358Lys show that the nanomechanical tensile behavior of the dimer segment does not vary with the mutation.
18093584 These results may be used to evaluate downstream effects of FTIs or other prelamin A inhibitors potentially useful for the therapy of laminopathies.
18077842 Correlation between LMNA adipose expression and cytokine and adipogenic gene markers in HIV-positive patients, regardless of presence or absence of lipodystrophy.
18041775 present case illustrates that mutations of the LMNA codon cause familial partial lipodystrophy that is inherited in an autosomal dominant pattern with variable expressivity
18035086 study highlights the role of LMNA mutations in dilated cardiomyopathy and related disorders. A severe phenotype in p.N195K mutation carriers and preferential cardiac conduction disease in p.R225X carriers was encountered.
18031308 A novel clinical form of familial partial lipodystrophy 2, due to a mutation affecting lamin A only, with cardiac involvement.
17994215 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17987279 Nonsense mediated decay is not sufficient to completely prevent the expression of truncated lamin A and that even trace amounts of it may negatively interfere with structural and/or regulatory functions of lamin A/C.
17935239 Homozygous missense mutation in LMNA gene is associated with Mandibuloacral dysplasia and severe progressive skeletal changes
17893350 both patients had markedly increased neck fat content, specifically surrounding the trachea.The association with sleep apnea might be related to the repartitioning of adipose tissue in patients with this type of lipodystrophy.
17881656 The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria. Dermal fibroblast cells have dysmorphic nuclei containing numerous blebs and lobulations, which progressively accumulate as cells age in culture.
17870066 Our findings raise a hypothesis that changes in lamina organization may cause accelerated telomere attrition, with different kinetics for overexpession of wild-type and mutant lamin A, which leads to rapid replicative senescence and progroid phenotypes.
17848622 RNA interference (RNAi) knockdown of XPA in Hutchinson-Gilford progeria syndrome cells partially restored double-strand breaks repair as evidenced by Western blot analysis, immunofluorescence and comet assays
17760566 Results indicate that pathogenic mutations in lamin A/C lead to sequestration of hsMOK2 into nuclear aggregates, which may deregulate MOK2 target genes.
17718387 Mutations in LMNA gene are the cause of many different diseases, called laminopathies. Among laminopathies are muscle tissue diseases, adipose tissue diseases and also progerias, the premature aging syndromes.
17711925 Mutations in the LMNA gene are responsible for several laminopathies, including lipodystrophies, with complex genotype/phenotype relationships
17701980 The findings from these cases further expand the clinical spectrum associated with mutations in the LMNA gene.
17612587 LMNA mutations and protease inhibitor treatment result in accumulation of farnesylated prelamin A and oxidative stress that trigger premature cellular senescence.
17605093 Malignant mutation in lamin A/C gene causing progressive conduction system disease and early death in limb-girdle muscular dystrophy.
17536044 findings highlight the crucial role of lamin A/C-emerin interactions, with evidence for synergistic effects of these mutations that lead to Emery-Dreifuss muscular dystrophy as the worsened result of digenic mechanism in this family
17469202 Unusual LMNA mutations associated with severe progeria.
17459035 LMNA p.G608G mutation results in a uniform phenotype through early to mid-childhood, in keeping with that described in classical Hutchinson-Gilford progeria syndrome
17454124 a lamin A/C mutation has a role in amyotrophic quadricipital syndrome with cardiac involvement
17428859 US3 kinase activity regulates HSV-1 capsid nuclear egress at least in part by phosphorylation of lamin A/C
17360355 Progerin/LADelta50 mislocalizes into insoluble cytoplasmic aggregates and membranes during mitosis and causes abnormal chromosome segregation and binucleation.
17360326 These results provide insights into the mechanisms responsible for premature aging and also shed light on the role of lamins in the normal process of human aging.
17352743 a change in the amount of lamin A, rather than appearance of its truncated form, is responsible for growth retardation in affected cells
17334235 found three LMNA mutations including a case having a previously described (Glu161Lys) mutation and two having novel mutations (Glu53Val and Glu186Lys)
17327461 Observational study of gene-disease association. (HuGE Navigator)
17327461 The results of 2 case-control studies of type 2 diabetes mellitus and a separate study of metabolic syndrome and LMNA polymorphisms is reported.
17327460 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17327460 A meta-analysis and a case-control study evaluating the role of LMNA mutations in the development of type 2 diabetes are reported.
17327437 Observational study of gene-disease association. (HuGE Navigator)
17327437 Eight tag single nucleotide polymorphisms in the LMNA locus were genotyped in 7,495 Danish whites and related to metabolic and anthropometric traits.
17301031 The major causal mutation associated with HGPS triggers abnormal messenger RNA splicing of the lamin A gene leading to changes in the nuclear architecture.
17291448 data suggest that the unprenylated prelamin A is not toxic to the cells
17227891 Results suggest that LAP2alpha and lamin A/C are involved in controlling retinoblastoma protein localization and phosphorylation, and a lack or mislocalization of either protein leads to cell cycle arrest in fibroblasts.
17150192 Since it has been reported that progeroid features are associated with increased extracellular matrix in dermal tissues, we compared a subset of these components in fibroblast cultures from LMNA mutants with those of control fibroblasts.
17136397 If neurogenic atrophy is combined with a cardiac disease in a family, this should prompt LMNA mutation analysis.
17117676 Neither emerin nor LMNA mutations in a subset of families with EDMD-like phenotypes that may imply an existence of other genes causing similar disorders.
17097067 Mislocalization of emerin to the endoplasmic reticulum in human cells lacking A-type lamin leads to its degradation and provides the first evidence that its degradation is mediated by the proteasome.
17090536 This review summarizes the abnormalities caused by an LMNA gene mutation which targets the nuclear envelope, where it interferes with the integrity of the nuclear envelope and causes misshapen cell nuclei, leading to progeroid syndromes.
16981056 The most frequently encountered mutations associated with Dilated Cardiomiopathy are found in LMNA, coding for lamins A and C, intermediate filament proteins.
16825283 Expression of a lamin A mutant that induces alterations in nuclear morphology can cause tissue and organ damage in mice with a normal complement of wild-type lamins.
16823856 We found that in inclusion-body myositis (IBM) muscle vacuoles were immunoreactive for the inner nuclear membrane proteins emerin and lamin A/C.
16772334 A subset of lamin A mutants might hinder the response of components of the DNA repair machinery to DNA damage by altering interactions with chromatin.
16738054 The epigenetic changes described most likely represent molecular mechanisms responsible for the rapid progression of premature aging in Hutchinson-Gilford Progeria Syndrome (HGPS) patients.
16697197 Lamin A/C mutations form 'nuclear aggregates' when overexpressed by transfection and in cultured skin fibroblasts from EDMD patients. However, inappropriate lamin A/C assembly may be preventable by manipulation of cell growth conditions.
16645051 observations implicate lamin A in physiological aging
16518869 caspase-6 and its cleavage of lamin A are critical in apoptotic signaling triggered by resveratrol in the colon carcinoma cells, which can be activated in the absence of Bax or p53
16481476 Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation, with deficient cells displaying delayed differentiation kinetics that may underlie dystrophic phenotypes.
16461887 The mutant lamin A (progerin) accumulates in the nucleus in a cellular age-dependent manner.
16415973 The Charcot-Marie-Tooth diseases resulted from the mutations of LMNA gene are rare.
16410549 Results suggest that the C-terminus of nuclear titin binds lamins A and B in vivo and might contribute to nuclear organization during interphase.
16371512 Ser-4 phosphorylation inhibits BAF binding to emerin and lamin A, and thereby weakens emerin-lamin interactions during both mitosis and interphase.
16357800 Description of the clinical, morphological and biological features that should lead clinicians to consider the diagnosis of laminopathy in a diabetic patient. (review)
16344005 lamin A has a role in sensitivity to DNA damaging agents, the DNA damage response, and a senescent phenotype
16289535 The redistribution into lamin A-/pre-lamin A-containing aggregates of proteins such as pRb and SREBP1a could represent a key aspect underlying the molecular pathogenesis of certain laminopathies.
16288872 This study reports a case of early onset myopathy due to a heterozygous LMNA mutation in exon 9, characterized by the presence of a marked number of cytoplasmic bodies with extensive myofibrillar abnormalities and Z-disk disruption in skeletal muscle.
16266469 The missense mutation E82K in LMNA gene was associated with a malignant phenotype of severe clinical symptoms of familial dilated cardiomyopathy.
16262891 Observational study of gene-disease association. (HuGE Navigator)
16248985 Thus, we did not find evidence for uniquely interacting partner proteins using this approach, but did identify four new lamin A/C interactive partners
16246140 Data show that chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
16239243 The presence of the expanded CGG-repeat FMR1 mRNA results in reduced cell viability as well as the disruption of the normal architecture of lamin A/C within the nucleus.
16218190 These data identify specific functional roles for the emerin-lamin C- and emerin-lamin A- containing protein complexes and is the first report to suggest that the A-type lamin mutations may be differentially dysfunctional for the same LMNA mutation.
16179429 Our results identify the absence of A-type lamin expression as a novel marker for undifferentiated ES cells and further support a role for nuclear lamins in cell maintenance and differentiation.
16129833 blocking farnesylation of authentic progerin in transiently transfected HeLa, HEK 293, and NIH 3T3 cells with farnesyltransferase inhibitors (FTIs) restored normal nuclear architecture
16126733 These results implicate the abnormal farnesylation of progerin in the cellular phenotype in HGPS cells and suggest that FTIs may represent a therapeutic option for patients with HGPS
16117820 Observational study of gene-disease association. (HuGE Navigator)
16084085 Missense mutation in peripheral nerve disease in an individual.
15998779 Two homozygous missense LMNA mutations involving the arginine 527 and alanine 529 residues cause MAD with subtle variations in phenotype.
15982412 results suggest that a mutant truncated lamin A, even when expressed at low levels, causes defective cell stability, which may be responsible for phenotypic abnormalities in Hutchinson-Gilford progeria syndrome
15961312 Two patients with 'Dropped head syndrome' due to mutations in LMNA genes.
15919811 This study further extends the vast range of diseases linked to LMNA mutations and identifies another genetic cause for the type A insulin resistance syndrome.
15798706 Mutations in LMNA cause a severe and progressive dilated cardiomyopathy in a relevant proportion of patients.
15748902 Our findings suggest a loss of function of A-type lamin mutant proteins in the organization of intranuclear chromatin and predict the loss of gene regulatory function in laminopathies.
15639119 This study identified a novel mutation in the 5' region of the LMNA gene -3del15, resulting in the loss of 15 nucleotides from -3 to +12, including the translation ATG initiator codon.
15636422 Observational study of gene-disease association. (HuGE Navigator)
15622532 this is the first report of a patient combining features of these two phenotypes because of a single mutation(S143F) mutation in LMNA.
15551023 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
15372542 mutations in lamins A and C may lead to a weakening of a structural support network in the nuclear envelope in fibroblasts and that nuclear architecture changes depend upon the location of the mutation
15342704 partial splice site selection in Hutchinson-Gilford progeria syndrome
15317753 Heterozygous splicing mutation in the LMNA gene, leading to the complete or partial loss of exon 11 in mRNAs encoding Lamin A in restrictive dermopathy was found.
15298354 a novel mutation associated with familial partial lipodystrophy
15284226 the distinctive ensemble of heterotypic lamin interactions in a particular cell type affects the stability of the lamin polymer
15219508 Observational study of gene-disease association. (HuGE Navigator)
15205220 Review. Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C.
15205219 Observational study of gene-disease association. (HuGE Navigator)
15205219 The H566H polymorphism was associated with metabolic syndrome and also higher mean fasting triglyceride and lower mean HDL-cholesterol concentrations in the Old Order Amish.
15080529 Review. Naturally occurring mutations in LMNA have been shown to be responsible for distinct diseases called laminopathies, including dilated cardiomyopathy with or without conduction defect and with or without variable skeletal muscle involvement.
15026149 identified the epitope recognized by a new panel of mAbs against lamin A/C as a sequence of 9 amino acids that contain a complete beta-strand of the Ig-like globular domain; the major site of lipodystrophy missense mutation, R482 is present in the epitope
14985400 LMNA represents the first gene implicated in both recessive and dominant forms of Charcot-Marie-Tooth disease
14675861 A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction.
14644157 data demonstrate that lamin C and lamin A interact in vivo directly with nesprin-1alpha and with emerin and that lamin A or C is sufficient for the correct anchorage of emerin and nesprin-1alpha at the nuclear envelope in human cells
14597414 Nuclear lamin A/C aggregates and a reduced incorporation of bromouridine were noted in fibroblasts from a familial partial lipodystrophy patient carrying an R482L lamin A/C mutation, demonstrating RNA transcription interference
13129702 REVIEW: The recent explosion in the number of identified mutations within the LMNA gene, which encodes two protein products lamins A and C, has allowed the identification of an allelic series of disorders, all caused by mutations within this one gene
12920062 A specific phenotype characterized by early atrial fibrillation is associated with LMNA mutation.
12844477 In this study, we excluded mutations within the complete coding region and the promoter of LMNA and the CRABP II gene in HIV-1 infected patients
12783988 the lamin a-emerin complex might have a role in muscular dystrophy and cardiomyopathy
12768443 LMNA mutation was studied in Hutchinson-Gilford progeria. It does not occur in Wiedemann-Rautenstrauch progeroid syndrome.
12729796 Results suggest that nuclear aggregate formation is in part due to overexpression of lamin A, but that there are also mutant-specific effects.
12718522 The carboxyl-terminal region common to lamins A and C contains a DNA binding domain.
12714972 point mutations in Hutchinson-Gilford progeria syndrome
12702809 Hutchinson-Gilford progeria appears to represent a novel laminopathy, caused by a single heterozygous splicing mutation in the LMNA gene, leading to a major loss of Lamin A expression, intimately associated to nuclear alterations
12673789 French family affected with a new phenotype composed of autosomal dominant severe dilated cardiomyopathy & a specific quadriceps muscle myopathy;identified missense mutation in the lamin A/C gene that cosegregated with the disease
12628721 Mutations in LMNA cause a severe and progressive dilated cardiomyopathy in a relevant proportion of patients.
12524233 LMNA missense mutations in nondiabetic carriers with Dunnigan-type familial partial lipodystrophy (FPLD) are associated with elevated levels of serum C-reactive protein and free fatty acid, particularly in women.
12467734 The autosomal recessive axonal Charcot-Marie-Tooth type 2 due to mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2.
12409453 In this study, we identify a novel interaction between lamin A/C and hsMOK2 by using the yeast two-hybrid system
12196663 Mutations in the lamin A/C gene found associated with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
12145775 Observational study of gene-disease association. (HuGE Navigator)
12138353 Absence of mutations in exon 8 of the gene in combination antiretroviral therapy-associated partial lipodystrophy.
12112001 regions of PKC-alpha that are crucial for binding to lamin A, and vice versa
12075506 mutation causes mandibuloacral dysplasia
12057196 solution structure of the human lamin A/C C-terminal globular domain which contains specific mutations causing four different heritable diseases
12032588 LMNA mutation is associated with autosomal dominant Emery-Dreifuss mucular dystrophy amd limb-girdle muscular dystrophy
12018485 1H, 13C and 15N resonance assignments of the C-terminal domain
12015247 Novel missense mutations in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and cardiomyopathy suggest a multisystem dystrophy syndrome due to LMNA mutations.
11973618 genes known to be responsible for Emery-Dreifuss muscular dystrophy
11897440 LMNA gene mutations account for 33% of the dilated cardiomyopathies with atrioventricular block, all familial autosomal dominant.
11799477 homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
11792821 Lamin A-binding is mediated by the central region of emerin, residues 70-178, outside the LEM-domain.
11792811 A population of cultured skin fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene present dysmorphic nuclei or a disorganization of the nuclear lamina, or both.
11792810 Certain dilated cardiomyopathy- and Emery-Dreyfuss muscular dystrophy-associated LMNA mutations result in misassembly of A-type lamins and give rise to a variety of nuclear structure abnormalities which may contribute to disease progression.
11792809 Some lamin A mutants causing disease can be aberrantly localized, partially disrupt the endogenous lamina and alter emerin localization, whereas others localize normally in transfected cells.
11691994 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages
11440372 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11243729 Observational study of gene-disease association. (HuGE Navigator)
9436978 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages
2544227 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages
2406262 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages
1667585 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages

AA Sequence

METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVV      1 - 70
SREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEAL     71 - 140
LNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNI    141 - 210
YSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAER    211 - 280
NSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRA    281 - 350
RMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK    351 - 420
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLK    421 - 490
AGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD    491 - 560
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVG    561 - 630
GSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM                                        631 - 664
//

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PMID Year Title
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25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
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25127216 2014 Matrix elasticity regulates lamin-A,C phosphorylation and turnover with feedback to actomyosin.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
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24485160 2014 LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
24375749 2014 Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
24349489 2013 Whole-exome sequencing to identify a novel LMNA gene mutation associated with inherited cardiac conduction disease.
24343626 2013 [Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy].
24315443 2013 Human iPSC-based modeling of late-onset disease via progerin-induced aging.
24294364 2013 Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.
24293108 2013 The clinicopathological significance of lamin A/C, lamin B1 and lamin B receptor mRNA expression in human breast cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24211782 2014 Nuclear localization of bradykinin B(2) receptors reflects binding to the nuclear envelope protein lamin C.
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24101728 2013 MicroRNA-141-3p plays a role in human mesenchymal stem cell aging by directly targeting ZMPSTE24.
24080738 2013 Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.
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24001739 2013 The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.
23990565 2013 Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiation.
23979707 2013 SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.
23977161 2013 Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
23923041 2013 The innate immunity adaptor SARM translocates to the nucleus to stabilize lamins and prevent DNA fragmentation in response to pro-apoptotic signaling.
23912926 A patient with ventricular tachycardia due to a novel mutation of the lamin A/C gene: case presentation and mini review.
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23850366 2013 The Bfp60 surface adhesin is an extracellular matrix and plasminogen protein interacting in Bacteroides fragilis.
23846499 2013 Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction.
23831462 2013 Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients.
23811080 2013 Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders.
23793583 2013 A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.
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23695662 2013 Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
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23659872 2013 A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.
23658700 2013 A-type lamins maintain the positional stability of DNA damage repair foci in mammalian nuclei.
23631840 2013 Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.
23605101 2013 The relationship between insulin resistance and CpG island methylation of LMNA gene in polycystic ovary syndrome.
23582089 2013 Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.
23564641 2013 Prelamin A accelerates vascular calcification via activation of the DNA damage response and senescence-associated secretory phenotype in vascular smooth muscle cells.
23450819 2013 Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.
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23328570 2013 CMR-verified interstitial myocardial fibrosis as a marker of subclinical cardiac involvement in LMNA mutation carriers.
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23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
23243001 2013 Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations.
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23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
23073275 2013 Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications.
23064282 2013 Elevated MTORC1 signaling and impaired autophagy.
23062543 2012 Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.
23049808 2012 LMNA knock-down affects differentiation and progression of human neuroblastoma cells.
23048029 2012 Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation.
22893709 2012 Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties.
22840390 2012 Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA.
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22773734 2012 Abnormal p38? mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.
22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
22560296 2012 S100A6 is transcriptionally regulated by ?-catenin and interacts with a novel target, lamin A/C, in colorectal cancer cells.
22555846 2012 Indoxyl sulfate promotes vascular smooth muscle cell senescence with upregulation of p53, p21, and prelamin A through oxidative stress.
22555292 2012 LINC complex alterations in DMD and EDMD/CMT fibroblasts.
22549407 2012 A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
22533413 2012 A bioinformatics analysis of Lamin-A regulatory network: a perspective on epigenetic involvement in Hutchinson-Gilford progeria syndrome.
22431096 2012 Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
22413764 2012 Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation.
22399800 2012 The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA cleavage in vivo.
22355414 2012 Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.
22340368 2012 Human longevity and common variations in the LMNA gene: a meta-analysis.
22326558 2012 Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.
22301279 2012 Lamin A/C protein is overexpressed in tissue-invading prostate cancer and promotes prostate cancer cell growth, migration and invasion through the PI3K/AKT/PTEN pathway.
22281253 2012 Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study.
22266370 2012 Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies.
22231515 2012 Perturbation of nuclear lamin A causes cell death in chondrocytes.
22224630 2012 Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.
22199124 2012 Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.
22186027 2012 LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
22079058 2012 C1824T mutation in the LMNA gene has no association with senile cataract.
22071332 2012 Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.
22065502 2011 Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
22057372 2012 Methylation status of lamin A/C in gastric cancer cell lines.
22029807 2011 Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathy.
21993218 2011 Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins.
21982404 2011 [Laminopathies: one gene, several diseases].
21980471 2011 Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development.
21949239 2011 Myotonic dystrophy protein kinase is critical for nuclear envelope integrity.
21945321 2011 LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue.
21941106 Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus.
21915271 2011 Differential temporal and spatial progerin expression during closure of the ductus arteriosus in neonates.
21903150 2011 Polymorphisms in LMNA and near a SERPINA13 gene are not associated with cognitive performance in Chinese elderly males without dementia.
21875900 2011 A conserved splicing mechanism of the LMNA gene controls premature aging.
21846512 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
21818408 Gene expression, chromosome position and lamin A/C mutations.
21791255 LMNA mutation in progeroid syndrome in association with strokes.
21724554 2011 High prevalence of laminopathies among patients with metabolic syndrome.
21689390 2011 Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.
21670498 2011 Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.
21670151 2011 The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9.
21655223 2011 Subcellular localization of SUN2 is regulated by lamin A and Rab5.
21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.
21627864 2011 Loss of A-type lamin expression compromises nuclear envelope integrity in breast cancer.
21621406 2011 Loss of lamin A/C expression in stage II and III colon cancer is associated with disease recurrence.
21599722 2011 Genotype of the LMNA 1908C>T variant is associated with generalized obesity in Asian Indians in North India.
21596650 2011 Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs.
21535365 2011 Retinoblastoma-independent regulation of cell proliferation and senescence by the p53-p21 axis in lamin A?/C-depleted cells.
21498514 2011 Identification of a novel muscle A-type lamin-interacting protein (MLIP).
21486941 2011 Structural protein 4.1R is integrally involved in nuclear envelope protein localization, centrosome-nucleus association and transcriptional signaling.
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21462202 2011 Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5.
21439080 2011 Nuclear envelope structural defects cause chromosomal numerical instability and aneuploidy in ovarian cancer.
21418524 2011 Substrate preference and phosphatidylinositol monophosphate inhibition of the catalytic domain of the Per-Arnt-Sim domain kinase PASKIN.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21406687 2011 A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death.
21400569 2011 Laminopathies and lamin-associated signaling pathways.
21350821 2011 Reorganization of the nuclear lamina and cytoskeleton in adipogenesis.
21346069 2011 A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
21327842 2011 Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease.
21327074 Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail.
21311568 2011 Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle.
21289091 2011 The nucleoporin Nup88 is interacting with nuclear lamin A.
21269460 2011 Initial characterization of the human central proteome.
21179469 2010 Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.
21151901 2010 LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.
21085127 2011 A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
20974128 2011 Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis.
20886652 2010 Two children with "dropped head" syndrome due to lamin A/C mutations.
20884875 2010 Premature senescence of vascular cells is induced by HIV protease inhibitors: implication of prelamin A and reversion by statin.
20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
20819672 2010 Lamin C protein deficiency in the primary fibroblasts from a new laminopathy case with ovarian cystadenoma.
20810912 2010 Hypoxia downregulates p53 but induces apoptosis and enhances expression of BAD in cultures of human syncytiotrophoblasts.
20732854 2010 Kinetic analysis of RNA interference for lamin A/C in HeLa cells.
20709679 2010 [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20627339 2011 N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations.
20625965 Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.
20618440 2010 Proteomic and biochemical analysis of 14-3-3-binding proteins during C2-ceramide-induced apoptosis.
20615561 2010 Identification of a lamin A/C gene mutation in a Taiwanese family with limb girdle muscular dystrophy and cardiomyopathy.
20605919 2010 Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence.
20581439 2010 Lamin A precursor induces barrier-to-autointegration factor nuclear localization.
20580717 2010 Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin.
20526372 2010 Dynamics of lamin-A processing following precursor accumulation.
20501691 2010 LMNA rs4641 and the muscle lamin A and C isoforms in twins--metabolic implications and transcriptional regulation.
20498703 2010 Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10.
20497714 2010 Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.
20485444 2010 Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
20458013 2010 Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.
20307303 2010 A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report.
20160190 2010 Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
20155465 2010 Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.
20147387 2010 Simian virus 40 T/t antigens and lamin A/C small interfering RNA rescue the phenotype of an Epstein-Barr virus protein kinase (BGLF4) mutant.
20130076 2010 LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.
20127487 2010 Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.
20092787 2009 R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.
20079404 2010 Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20054742 Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.
20045150 2010 Adipose tissue lamin A/C messenger RNA expression in women.
20041886 2010 Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
20004208 2010 Characterization of the head-to-tail overlap complexes formed by human lamin A, B1 and B2 "half-minilamin" dimers.
20000738 2010 Proteomic dissection of cell type-specific H2AX-interacting protein complex associated with hepatocellular carcinoma.
19958786 2010 Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19938095 2009 Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients.
19933576 2010 Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
19926845 2009 A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19882644 2010 Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
19875478 2009 Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
19875404 2009 The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
19859838 2009 LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype.
19855837 2009 A comparative study of Drosophila and human A-type lamins.
19841875 2010 Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study.
19775189 2009 Reduced expression of lamin A/C results in modified cell signaling and metabolism coupled with changes in expression of structural proteins.
19768759 2010 Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
19680556 2009 Genetic variation in healthy oldest-old.
19672032 2009 A promoter polymorphism of lamin A/C gene is an independent genetic predisposition to arterial stiffness in a Japanese general population (the Tanno and Sobetsu study).
19645629 2009 LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
19644448 2009 Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF.
19638735 2009 Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19589617 2009 Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19574635 2009 Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD).
19524666 2009 Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.
19490114 2009 Phosphorylation-dependent binding of human transcription factor MOK2 to lamin A/C.
19446900 2009 Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.
19442658 2009 Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants.
19427440 2009 Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.
19424285 2009 Mutations in the LMNA gene do not cause axonal CMT in Czech patients.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19401371 2009 The role of genetic variation in the lamin a/c gene in the etiology of polycystic ovary syndrome.
19384091 2009 Lamin A/C deficiency as a cause of familial dilated cardiomyopathy.
19351612 Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria.
19328042 2009 A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.
19323649 2009 Emerin-prelamin A interplay in human fibroblasts.
19318026 2009 Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
19283854 2009 Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
19270485 2009 Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.
19247430 2009 The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.
19220582 2009 The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
19204888 2009 Comparison of phenotypes in male and female individuals of a new family with Dunnigan type of familial partial lipodystrophy due to a lamin A/C R482W mutation.
19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.
19172989 2009 Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.
19144202 2009 Reduced expression of lamin A/C correlates with poor histological differentiation and prognosis in primary gastric carcinoma.
19141474 2008 The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription.
19126678 2009 Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-catenin.
19124654 2009 Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.
19084400 2009 Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
19022376 2009 Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.
19015316 2008 Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelope.
18982914 2008 Model of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromes.
18959190 2008 [The atypical of Werner syndrome: effect of laminopathy].
18950579 2008 [A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects].
18946024 2008 Plasma-membrane-anchored growth factor pro-amphiregulin binds A-type lamin and regulates global transcription.
18926329 2008 Long-term outcome and risk stratification in dilated cardiolaminopathies.
18923140 2008 Analysis of prelamin A biogenesis reveals the nucleus to be a CaaX processing compartment.
18848371 2010 Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people.
18843043 2008 Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53.
18830724 2009 Assessment of Alzheimer's disease case-control associations using family-based methods.
18816602 2008 A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
18809582 2008 Nucleophosmin serves as a rate-limiting nuclear export chaperone for the Mammalian ribosome.
18805829 2009 Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.
18795223 2009 Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.
18767923 2009 Inhibition of lamin A/C attenuates osteoblast differentiation and enhances RANKL-dependent osteoclastogenesis.
18714801 2008 A novel mutation in a large French-Canadian family with LGMD1B.
18714339 2008 Lamin A/C is a risk biomarker in colorectal cancer.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18691775 2010 Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18667561 2008 The binding of Tritrichomonas foetus to immobilized laminin-1 and its role in the cytotoxicity exerted by the parasite.
18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
18643848 2009 Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.
18612243 2008 Lamin A/C and polymeric actin in genome organization.
18611980 2008 Heart-hand syndrome of Slovenian type: a new kind of laminopathy.
18606848 2008 Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
18604166 2008 The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.
18585512 2008 Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
18564364 2008 Laminopathies in Russian families.
18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.
18549403 2008 Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.
18538321 2008 Specific contribution of lamin A and lamin C in the development of laminopathies.
18524819 2008 Effects of lamin A/C, lamin B1, and viral US3 kinase activity on viral infectivity, virion egress, and the targeting of herpes simplex virus U(L)34-encoded protein to the inner nuclear membrane.
18502446 2008 Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.
18497856 2008 Role for A-type lamins in herpesviral DNA targeting and heterochromatin modulation.
18497734 2008 LMNA mRNA expression is altered in human obesity and type 2 diabetes.
18478590 2008 Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
18442998 2008 Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin.
18442054 2008 Effects of prelamin A processing inhibitors on the differentiation and activity of human osteoclasts.
18396274 2008 Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.
18364375 2008 Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.
18348272 2008 Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
18339564 2008 Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.
18337098 2008 Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.
18311132 2008 Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing.
18308323 2008 Muscle dystrophy single point mutation in the 2B segment of lamin A does not affect the mechanical properties at the dimer level.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18093584 2008 Drugs affecting prelamin A processing: effects on heterochromatin organization.
18077842 2007 LMNA messenger RNA expression in highly active antiretroviral therapy-treated HIV-positive patients.
18060063 2007 The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.
18041775 2007 The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
18035086 2007 High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
18031308 2008 A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17994215 2008 Evaluating the association of common LMNA variants with type 2 diabetes and quantitative metabolic phenotypes in French Europids.
17987279 2008 Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.
17935239 2007 Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
17924679 2007 Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.
17893350 2007 Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.
17881656 2007 Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
17870066 2008 Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A.
17848622 2008 Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A.
17760566 2008 Mislocalization of human transcription factor MOK2 in the presence of pathogenic mutations of lamin A/C.
17718387 2007 [The role of lamins and mutations of LMNA gene in physiological and premature aging].
17711925 2007 New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
17701980 2007 A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
17612587 2007 Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence.
17605093 2007 Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
17550303 2007 Vascular endothelial growth factor mediates intracrine survival in human breast carcinoma cells through internally expressed VEGFR1/FLT1.
17536044 2007 Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
17469202 2007 Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
17459035 2007 Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.
17454124 2007 Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutation.
17428859 2007 US3 of herpes simplex virus type 1 encodes a promiscuous protein kinase that phosphorylates and alters localization of lamin A/C in infected cells.
17360355 2007 A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
17360326 2007 Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging.
17352743 2007 Accumulation of multiple forms of lamin A with down-regulation of FACE-1 suppresses growth in senescent human cells.
17334235 2007 Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.
17327461 2007 Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.
17327460 2007 Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects.
17327437 2007 Common variation in LMNA increases susceptibility to type 2 diabetes and associates with elevated fasting glycemia and estimates of body fat and height in the general population: studies of 7,495 Danish whites.
17301031 2007 Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome.
17291448 2007 Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells.
17250669 2007 Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
17227891 2007 Nucleoplasmic LAP2alpha-lamin A complexes are required to maintain a proliferative state in human fibroblasts.
17150192 2007 Collagen expression in fibroblasts with a novel LMNA mutation.
17136397 2007 Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
17117676 2006 [Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
17097067 2006 Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.
17090536 2006 Prelamin A farnesylation and progeroid syndromes.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17069459 2006 Changes in the expression of human cell division autoantigen-1 influence Toxoplasma gondii growth and development.
16981056 2006 Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16916647 2006 Substrate and functional diversity of lysine acetylation revealed by a proteomics survey.
16825283 2006 Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.
16823856 2006 Nuclear membrane proteins are present within rimmed vacuoles in inclusion-body myositis.
16791210 2006 Dynamic proteomics in individual human cells uncovers widespread cell-cycle dependence of nuclear proteins.
16779558 2006 Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
16772334 2006 Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci.
16738054 2006 Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16697197 2006 Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition.
16645051 2006 Lamin A-dependent nuclear defects in human aging.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16518869 2006 Functional proteomics of resveratrol-induced colon cancer cell apoptosis: caspase-6-mediated cleavage of lamin A is a major signaling loop.
16481476 2006 Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.
16461887 2006 Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.
16415973 2006 No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients.
16410549 2006 Nuclear titin interacts with A- and B-type lamins in vitro and in vivo.
16371512 2006 Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo.
16357800 2005 Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations?
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16344005 2006 Dysfunction of lamin A triggers a DNA damage response and cellular senescence.
16289535 2006 Laminopathy-inducing lamin A mutants can induce redistribution of lamin binding proteins into nuclear aggregates.
16288872 2005 Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
16278265 2006 A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
16266469 2005 [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].
16262891 2005 Aging syndrome genes and premature coronary artery disease.
16248985 2005 Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C.
16246140 2005 Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
16239243 2005 Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
16236267 2005 Proteomic analysis of SUMO4 substrates in HEK293 cells under serum starvation-induced stress.
16218190 2005 Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.
16179429 2006 Lamin A/C expression is a marker of mouse and human embryonic stem cell differentiation.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16156025 2005 Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.
16129833 2005 Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.
16126733 2005 Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
16117820 2005 Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in Japanese men with type 2 diabetes.
16084085 2005 Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.
16083285 Global phosphoproteome of HT-29 human colon adenocarcinoma cells.
16061563 2005 In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
15998779 2005 A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
15982412 2005 Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.
15961312 2005 Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
15919811 2005 Type A insulin resistance syndrome revealing a novel lamin A mutation.
15798706 2005 [Lamine gene mutations in dilated cardiomyopathy].
15793835 2005 Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
15748902 2005 Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.
15744034 2005 Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
15671068 2005 Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle.
15668447 2005 The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
15639119 2005 Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
15636422 2004 The Val81 missense mutation of the melanocortin 3 receptor gene, but not the 1908c/T nucleotide polymorphism in lamin A/C gene, is associated with hyperleptinemia and hyperinsulinemia in obese Greek caucasians.
15635413 2005 Nucleolar proteome dynamics.
15622532 2005 p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
15551023 2005 Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
15527767 2004 Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15476822 2004 Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins.
15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
15342704 2004 Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome.
15317753 2004 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15298354 2004 Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.
15286156 2004 Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
15284226 2004 The stability of the nuclear lamina polymer changes with the composition of lamin subtypes according to their individual binding strengths.
15265697 2004 Lco1 is a novel widely expressed lamin-binding protein in the nuclear interior.
15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
15205220 2004 Laminopathies and atherosclerosis.
15205219 2004 Variation in the lamin A/C gene: associations with metabolic syndrome.
15184648 2004 Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.
15161933 2004 Comprehensive proteomic analysis of interphase and mitotic 14-3-3-binding proteins.
15140953 2004 Conformational changes in the nuclear lamina induced by herpes simplex virus type 1 require genes U(L)31 and U(L)34.
15140538 2004 A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.
15080529 2004 [Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know].
15060110 2004 Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
15032975 2004 Paternal origin of LMNA mutations in Hutchinson-Gilford progeria.
15026149 2004 A lamin A/C beta-strand containing the site of lipodystrophy mutations is a major surface epitope for a new panel of monoclonal antibodies.
14985400 2004 A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
14759373 2004 CTCF tethers an insulator to subnuclear sites, suggesting shared insulator mechanisms across species.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
14675861 2003 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
14644157 2003 Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.
14627682 2003 Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
14597414 2003 Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.
13129702 2003 The strange case of the "lumper" lamin A/C gene and human premature ageing.
12927431 2003 LMNA mutations in atypical Werner's syndrome.
12920062 2003 Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
12844477 2003 Lack of mutations in LMNA, its promoter region, and the cellular retinoic acid binding protein II (CRABP II) in HIV associated lipodystrophy.
12788894 2003 Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
12783988 2003 Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.
12768443 2003 LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
12729796 2003 Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells.
12718522 2003 The carboxyl-terminal region common to lamins A and C contains a DNA binding domain.
12714972 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
12702809 2003 Lamin a truncation in Hutchinson-Gilford progeria.
12673789 2003 Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
12649505 2003 Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
12629077 2003 A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
12628721 2003 Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
12534602 2003 Lamin expression in normal human skin, actinic keratosis, squamous cell carcinoma and basal cell carcinoma.
12524233 2003 Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy.
12486434 2002 A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12475961 2002 Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein.
12467752 2002 Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
12467734 2003 The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
12429849 2002 Functional proteomic analysis of human nucleolus.
12409453 2002 In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.
12196663 2002 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
12154369 2002 Life at the edge: the nuclear envelope and human disease.
12145775 2002 An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese.
12112001 2002 Molecular characterization of protein kinase C-alpha binding to lamin A.
12075506 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
12057196 2002 The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.
12032588 2002 Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
12018485 2002 1H, 13C and 15N resonance assignments of the C-terminal domain of human lamin A/C.
12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
11973618 2002 Emery-Dreifuss muscular dystrophy.
11953316 2002 Caspase-6 gene disruption reveals a requirement for lamin A cleavage in apoptotic chromatin condensation.
11929849 2002 A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.
11901143 2002 Structure of the globular tail of nuclear lamin.
11897440 2002 Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
11836312 2002 Lamin expression in human adipose cells in relation to anatomical site and differentiation state.
11833462 2001 [Major insulin resistance syndromes: clinical and physiopathological aspects].
11801724 2002 Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C.
11799477 2002 Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
11792821 2001 Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.
11792810 2001 Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.
11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
11790298 2002 Directed proteomic analysis of the human nucleolus.
11709282 2001 The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases.
11691994 2001 Dynamic disruptions in nuclear envelope architecture and integrity induced by HIV-1 Vpr.
11576443 2001 The nuclear envelope in muscular dystrophy and cardiovascular diseases.
11561226 2001 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
11532159 2001 Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
11525883 2001 A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
11503164 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
11440372 2001 Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians.
11344241 2001 Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.
11243729 2001 Subcutaneous abdominal adipocyte size, a predictor of type 2 diabetes, is linked to chromosome 1q21--q23 and is associated with a common polymorphism in LMNA in Pima Indians.
11231979 2001 Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.
11173535 2001 Interaction between emerin and nuclear lamins.
10999791 2000 LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.
10984438 2000 Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins.
10960149 2000 The inner nuclear membrane.
10939567 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
10908904 2000 Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
10814726 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
10806082 2000 Review: nuclear lamins--structural proteins with fundamental functions.
10739764 2000 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
10727209 2000 Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening.
10673356 2000 Direct interaction between emerin and lamin A.
10662742 2000 Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
10580070 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
10514485 1999 Prenylated prelamin A interacts with Narf, a novel nuclear protein.
10508479 1999 Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
10381623 1999 A novel adenovirus E1B19K-binding protein B5 inhibits apoptosis induced by Nip3 by forming a heterodimer through the C-terminal hydrophobic region.
10080180 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
9563518 1998 In vitro interaction of the carboxy-terminal domain of lamin A with actin.
9436978 1998 HIV-1 Vpr interacts with the nuclear transport pathway to promote macrophage infection.
9367621 1997 Expression of nuclear lamins in human tissues and cancer cell lines and transcription from the promoters of the lamin A/C and B1 genes.
9274531 1997 Nuclear lamin expression in normal testis and testicular germ cell tumours of adolescents and adults.
9243284 1997 A- and B-type lamins are differentially expressed in normal human tissues.
9106535 1997 Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
9030603 1997 In vitro assay and characterization of the farnesylation-dependent prelamin A endoprotease.
8978814 1996 Lamin proteolysis facilitates nuclear events during apoptosis.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8838815 1996 Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.
8621584 1996 An alternative splicing product of the lamin A/C gene lacks exon 10.
8511676 1993 Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10.
8477740 1993 Identification of novel phosphorylation sites in murine A-type lamins.
8344919 1993 Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C.
8324822 1993 Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation.
8278403 1994 The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein.
8175923 1994 The processing pathway of prelamin A.
8058329 1994 Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction.
7951328 1994 A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.
7925482 1993 Functional analysis of phosphorylation sites in human lamin A controlling lamin disassembly, nuclear transport and assembly.
3462705 1986 cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.
3453101 1986 Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins.
3403563 1988 Nuclear lamina heterogeneity in mammalian cells. Differential expression of the major lamins and variations in lamin B phosphorylation.
2544227 1989 Association of Tat protein and viral mRNA with nuclear matrix from HIV-1-infected H9 cells.
2406262 1990 Functional characterization of Tat protein from human immunodeficiency virus. Evidence that Tat links viral RNAs to nuclear matrix.
2344612 1990 Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis.
2209722 1990 Induction of nuclear lamins A/C in macrophages in in vitro cultures of rat bone marrow precursor cells and human blood monocytes, and in macrophages elicited in vivo by thioglycollate stimulation.
1667585 1991 Interaction of human immunodeficiency virus type I Rev protein with nuclear scaffold nucleoside triphosphatase activity.
1602151 1992 Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.
1599464 1992 Mouse and human hemopoietic cell lines of erythroid lineage express lamins A,B and C.