Property Summary

NCBI Gene PubMed Count 325
PubMed Score 1134.62
PubTator Score 923.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Aortic aneurysm 34 5.652 2.8
Disease Target Count Z-score Confidence
Lens subluxation 9 4.107 2.1
Disease Target Count
Marfan lipodystrophy syndrome 1

Expression

  Differential Expression (32)

Disease log2 FC p
malignant mesothelioma -6.400 5.1e-09
ependymoma 1.700 7.6e-03
psoriasis 1.500 6.9e-03
osteosarcoma 1.829 6.7e-03
atypical teratoid / rhabdoid tumor 2.200 1.3e-04
glioblastoma 1.100 1.0e-02
sonic hedgehog group medulloblastoma 2.100 1.6e-06
Duchenne muscular dystrophy 1.729 7.9e-07
limb girdle muscular dystrophy 2A 1.271 1.9e-03
Becker muscular dystrophy 1.276 9.5e-03
fascioscapulohumeral muscular dystrophy 1.493 1.6e-04
juvenile dermatomyositis 1.325 2.4e-07
Atopic dermatitis -1.900 1.0e-03
primary pancreatic ductal adenocarcinoma 3.494 7.5e-05
intraductal papillary-mucinous adenoma (... -2.000 2.5e-02
diabetes mellitus -1.100 3.0e-02
Breast cancer 2.500 2.6e-02
interstitial cystitis 1.600 1.8e-04
pilocytic astrocytoma 1.200 2.3e-03
primary Sjogren syndrome 1.300 2.7e-03
aldosterone-producing adenoma -1.027 2.6e-02
subependymal giant cell astrocytoma 1.362 3.8e-02
nasopharyngeal carcinoma 1.500 1.7e-04
lung carcinoma -1.700 5.5e-13
gastric carcinoma 2.600 4.5e-03
ductal carcinoma in situ -1.600 2.9e-02
invasive ductal carcinoma -2.100 1.5e-02
acute myeloid leukemia -1.700 3.0e-02
ulcerative colitis 2.200 7.0e-04
ovarian cancer -3.100 2.7e-05
pituitary cancer 1.400 5.1e-03
pancreatic cancer 3.800 7.6e-05

Protein-protein Interaction (7)

Gene RIF (257)

PMID Text
27026396 New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.
26875674 The R2726W FBN1 variant is associated with skeletal features of Marfan syndrome.
26694617 Data suggest that fibrillin-1 and ATP1B3 are binding partners of BST-2; fibrillin-1 (unlike ATP1B3) restricts of HIV-1 replication in a mechanism independent of BST-2.
26684006 Data indicate that abnormal fibrillin-1 (FBN1) transcripts were indicated in fibroblasts from patients with the splice site mutation c.4817-2delA and the missense mutation c.A4925G.
26601954 Data suggest that MFAP4 (microfibrillar-associated protein 4) binds tropoelastin, fibrillin-1/-2, and elastin cross-linking amino acid desmosine; MFAP4 co-localizes with fibrillin-1-positive fibers; MFAP4 promotes tropoelastin self-assembly.
26471116 This is the first report of ophthalmoplegia in association with stiff skin syndrome.
26410935 New FBN1 mutations in Russian Marfan syndrome patients
26281765 The review discuss FBN1 point mutations on the structure and function of the protein associated with Marfan syndrome in affected patients impairing protein folding and traficking, secretion, proteolysis or heparin binding.
26272055 Also, expansion of the mutation spectrum in FBN1 will be helpful in genetic counselling for Chinese patients with STAAD.
25979247 These results suggest fundamental differences in the dominant pathogenic mechanisms underlying Marfan syndrome , stiff skin syndrome and the acromelic dysplasias, which give rise to TGFbeta dysregulation associated with these diseases.
25957947 Different syndromes are associated with different structural abnormalities in the fibrillin microfibril scaffold and perhaps with specific cellular receptors (mechanosensors). [Review]
25901601 Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of the FBN1 gene mutation.
25900864 An early onset case of ectopia lentis in a child and his mother due to a FBN1 mutation with non-penetrance has been described.
25863307 Progressive pathological aortic root enlargement as the result of degeneration of microfibril architecture and consequential loss of extracellular matrix integrity due to fibrillin-1 (FBN1) mutations are commonly diagnosed clinical manifestations of MFS.
25805839 These findings suggest that the expression of alpha-smooth muscle actinis TGF-beta1 dependent, and fibrillin-1 degradation and downregulation might be implicated in the differentiation of myofibroblasts in dental pulp wound healing.
25749384 FBN1 acts downstream of Aur A and BRCA2, promoting ovarian cancer metastasis through p53 and SLUG-associated signaling.
25736269 A frameshift mutation in FBN1 contributing to familial congenital diaphragmatic hernia.
25729264 C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.
25656438 Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-beta signaling dysregulation in the pathophysiologic mechanisms.
25652400 A low level of residual WT FBN1 mRNA accounts for a high risk of ectopia lentis and pectus abnormality and tends to increase the risk of aortic dilatation in Marfan syndrome.
25652356 Frequencies of variants in FBN1 in Marfan syndrome.
25613431 Marfan patients with haploinsufficient FBN1 mutations seem to be more responsive to losartan therapy for inhibition of aortic root dilatation rate compared with dominant negative patients.
25583878 Studied snps of the fibrillin-1 (FBN1) gene in a case-control study for dilatative pathology of the ascending thoracic aorta (DPATA) from Lithuanians.
25519456 Letter/Case Report: recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome.
25370960 A novel variant (c.701G>T) in the FBN1 segregated with Marfan features in a large Danish family. This novel variant seems to cause a uniform and very detrimental set of disease characteristics including fatal aortic dissection.
25142510 New missense mutations in FBN1 gene were indentified in geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) patients.
25101912 Findings demonstrate a strong association of Marfan syndrome patients with truncating/splicing FBN1 mutations with both age-independent and age-dependent aortic events.
24982166 C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.
24940037 These results expand the mutation spectrum in FBN1 and enhance our knowledge of genotype-phenotype correlations underlying FBN1 mutations.
24867584 Fibrillin-1 was prominent in the outer anterior annulus fibrosus (AF) of the human foetal intervertebral disc and in fibres extending from the AF into the cartilaginous vertebral rudiments
24837032 No significant relationship was observed between FBN1 genotypes and the incidence of cardiovascular disease or all-cause mortality.
24833718 we demonstrate an important role for FBN1 and FBN2 in AIS pathogenesis. We show that rare variants are enriched in severely affected AIS patients and are significantly associated with curve severity.
24793577 genetic testing revealed new mutations in FBN1, TGFbetaR1, TGFbetaR2 and ACTA2 detected in patients with clinical diagnosis of Marfan Syndrome, Loeys-Dietz Syndrome and Thoracic Aortic Aneurysms and Dissections.
24743685 genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection
24698609 Autosomal dominant type 1 fibrillinopathy was the major cause for lens subluxation in this cohort despite the fact that families were inbred and thus at higher risk for recessive disease.
24665001 The results suggest clustering of null variants near exon 65 of FBN1 causing a phenotype strongly resembling Marfan syndrome with additional progeroid features.
24610719 we report a new FBN1 mutation in an Marfan syndrome family that had remained negative after extensive molecular genomic DNA FBN1 testing
24564502 FBN1 mutations in patients with bicuspid aortic valve without Marfan syndrome.
24504995 Cys2633Arg mutation in fibrillin-1 may manifest with significant and progressive enlargement of the aortic root, risk of aortic dissections, and minor skeletal abnormalities, without involving the ocular system (i.e., ectopia lentis).
24484584 Two new variants, including one nonsense SNP in the Marfan syndrome gene FBN1 and one missense mutation in exon 15 of LRP1, which may be related to the phenotype of the patients were identified
24413999 Identification of single nucleotide polymorphisms of FBN1 gene that are associated with essential hypertension in Han Chinese population.
24343123 We provide a systematic review of genetic Heritable-Thoracic aortic aneurysms and dissections and practical recommendations for genetic testing and patient management.
24199744 15 novel FBN1 mutations in children with the Marfan and Loeys-Dietz syndrome
24161884 LV dilatation in MFS patients is more often seen in patients with a non-missense mutation and in those patients without an FBN1 mutation
24078565 Four novel mutations were discovered at introns of FBN1 in patients with Marfan syndrome.
24070235 Fibrillins require the complete gelatin-binding region of fibronectin for interactions.
24039232 fibrillin-1 provides a potent negative feedback that limits osteoclast formation and function.
24039054 We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1
24035709 Heparan sulfate may sequester fibrillin at the cell surface via FUN-EGF3 prior to aggregation of the C terminus, thereby regulating microfibril assembly.
23991918 There is no consistent relationship of dural ectasia with any type of FBN1 mutation.
23963856 The hypermethylated FBN1 occurred in 72% (54/75) of these patients.
23963449 Cleaved versican G1 domain-containing fragments (VG1F) can be recaptured by microfibrils through VG1F homotypical interactions to enhance hyaluronan recruitment to microfibrils.
23897642 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
23860323 results indicate that both Sp1 and PARP1 contribute to FBN1 gene expression. These observations add to our understanding of the transcriptional regulation of FBN1 gene expression
23794388 Mutations in the integrin-binding fragment of FBN1 is associated with Juvenile idiopathic arthritis and mitral valve prolapse.
23762390 The aim of this study was to investigate the regulation of FBLN-1 by transforming growth factor beta 1 (TGF-beta1) (a pro-fibrotic stimulus) in primary human airway smooth muscle (ASM) cells.
23592911 Genotype-phenotype correlations in this study indicate that nonsense mutations of FBN1 may correlate with relatively severe systemic phenotypes when compared with cysteine substitutions, the most common type of FBN1 mutations.
23176764 Clinical features are more reliable predictors of mitral valve disease progression than FBN1 gene mutation characteristics.
23133647 Fibrillin mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
23124041 the mutation in the current patient was located in the TB5 domain, which suggests that abnormalities in this domain of FBN1 are responsible for GD.
23119075 Data indicate that TGF-beta1 was co-purified by specific interactions with nickel, and not by specific interactions with fibrillin-1 fragments.
23104139 Report immunolocalization of fibrillin-1/perlecan in human fetal intervertebral disc.
22950452 Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis.
22876116 A novel heterozygous missense mutation in FBN1 gene (c.2368T>A; p.Cys790Ser) was observed in exon 19. All affected family members presented with ectopia lentis, myopia and glaucoma, but lacked the cardinal cardiovascular features of Marfan syndrome.
22782528 Fibrillin 1 was also not detectable in either the matrix or the conditioned medium from these cells. This led to the surprising finding that fibrillin 1 gene expression is turned off in alpha5- and alphaV-reduced clones.
22772377 Exon 47 skipping of FBN1 leads preferentially to cardiovascular defects; human ancestries influence genotype-phenotype correlation in thoracic aortic aneurysms and dissections.
22736615 FBN1 mutations are associated with ectopia lentis and Marfan syndrome and may cause a cardiovascular risk for patients with these diseases.
22545955 The G-A substitution in the fibrillin-1 gene (rs11856553) is a rare genetic variant that is associated with an increased risk of prevalent hypertension, particularly of moderate to severe prevalent hypertension.
22539873 A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which causes isolated ectopia lentis in a Chinese family.
22393277 A p.Y754C mutation in the FBN1gene is the causative mutation for ectopia lentis in a Chinese family.
22262941 A novel missense mutation G214S (caused by a 640 A-->G heterozygous change) in FBN1 was identified in a Chinese family with autosomal dominant Marfan syndrome.
22242013 We conclude that local tissue-specific microenvironments, affected in WMS, are maintained by a fibrillin-1 microfibril scaffold, modulated by ADAMTSLIKE proteins in concert with ADAMTS enzymes
22219643 A novel FBN1 mutation has been identified in a Chinese family with autosomal dominant inherited ectopia lentis.
22034023 The diagnosis of a bilateral lens luxation must be followed by complete systemic examination and genetic analysis of the FBN1 gene in order to discard marfan syndrome due to its severe systemic complications.
22005308 The aim of the present work was to evaluate the frequency and type of FBN1 gene mutations in a population of Marfan syndrome
21976953 A novel p.S1235P mutation in the FBN1 gene has been identified that is linked to the Marfan syndrome in a Chinese family.
21936929 In our study, we identified two novel large deletions in the FBN1 gene in four patients of two unrelated families.
21909107 Common genetic variants at 15q21.1 that probably act via FBN1 are associated with sporadic thoracic aortic aneurysms and dissections.
21895641 missense mutations in FBN1 gene have an effect on splicing which can be identified by direct RNA analysis
21880733 ADAMTSL6beta has a role in fibrillin-1 microfibril formation
21851253 These results suggest that both fibrillin-1 and fibrillin-2 are essential for the formation of thick oxytalan fibers in the ciliary zonule.
21840105 The mutation is located in exon 54, in the 3' region, where 37% of the mutations of FBN1 have been described
21789464 in 4 families linkage with the FBN1 and TGFBR2 genes was excluded, and no mutations were identified in the coding region of TGFBR1, indicating the existence of other genes involved in Marfan syndrome.
21784848 Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
21726527 These results suggest that altered splicing may modulate Marfan disease severity, regulate FBN1 expression, and potentially represent a therapeutic target.
21683322 TGFbeta-binding protein-like domain 5 mutations in FBN1 are responsible for short stature phenotypes.
21617610 Report fibrillin 1 levels in varicose veins in relation to apoptosis and cell proliferation.
21594993 a specific clinical entity characterized by progeroid facial features, lipodystrophy, and at least some clinical signs of Marfan syndrome is associated with a subset of mutations located at the 3' end of FBN1.
21594992 phenotype with features of Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy is a distinct clinical entity due to frameshift mutations in exon 64 of the FBN1 gene.
21540769 Demonstrate specific immunolocalization of fibrillin-1, MAGP-1, and LTBP-1 with elastin in the outer annulus fibrosus of the fetal human intravertebral disc.
21527992 Common polymorphisms in four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia.
21402694 ADAMTS10 participates in microfibril biogenesis rather than in fibrillin-1 turnover
21331051 Our finding suggested there is a significant association of rs140598 of FBN1 gene with essential hypertension.
21211293 FBN1 gene mutation, c.2261A > G (p.Y754C), is the underlying molecular pathogenesis of this family with Marfan syndrome.
21135753 Data report the largest FBN1 genotyped series of probands with Marfan syndrome diagnosed before 1 y of life.
21063442 complete FBN1 allele deletion shows that haploinsufficiency has a major contribution to the pathogenesis of Marfan syndrome
21034599 mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome.
20886638 Heterozygous missense mutations were detected in FBN1 predicted to substitute the first aspartic acid of different calcium-binding Epidermal Growth Factor-like (cbEGF) fibrillin-1 domains.
20850568 Increased anti-fibrillin-1 IgM antibodies in RPL patients may be a secondary phenomenon of increased fibrillin-1 degradation and contribute to the pathogenesis of pregnancy losses.
20803651 NOVEL MUTATIONS IN NEONATALS WITH MARFAN SYNDROME
20729124 Sudden death case of a patient previously diagnosed as Marfan syndrome (MFS). The p.C1307Y substitution of the FBN1 gene may be associated with the pathology of the present case, and show a higher risk for aortic rupture and subsequent sudden death.
20709720 The cardiovascular risk remains important in patients with an FBN1 gene mutation and is present throughout life, justifying regular aortic monitoring.
20709720 Observational study of gene-disease association. (HuGE Navigator)
20686071 Data suggest that genetic fibrillin-1 deficiency could alter normal endothelial signaling.
20672986 Osteosarcoma in a Marfan patient with a novel premature termination codon in the FBN1 gene.
20662850 the connective tissue weakness does not relate to mutations in the genes FBN1, TGFBR1 and TGFBR2
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20564469 This study confirms that homozygous mutations in ADAMTSL4 are associated with autosomal-recessive ectopia lentis in British families.
20547088 Observational study of genotype prevalence. (HuGE Navigator)
20537417 Observational study of gene-disease association. (HuGE Navigator)
20478419 FBN1 deletion is associated with Marfan syndrome.
20455198 Postmortal molecular study revealed an unusually large deletion of exons 24-26 within the so-called neonatal region of the gene FBN1, which might explain the unfavourable course of the disease in our patient.
20451256 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20375004 Stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding.
20360993 Observational study of gene-disease association. (HuGE Navigator)
20199707 Study indicates the association between fibrillin-1 gene intron 56 polymorphism and mitral valve prolapse in Turkish children.
20199707 Observational study of gene-disease association. (HuGE Navigator)
20085885 Two novel deletion mutation and missense mutation of FBN1 gene is associated with the cause of Marfan syndrome in Han population.
20082464 analysis of FBN1 mutations in patients with descending thoracic aortic dissections [case report]
19996017 Clinical outcomes appear similar between treated patients with TGFBR2 mutations and individuals with FBN1 mutations in Marfan syndrome and related disorders.
19941982 analysis of skeletal manifestations in Hispanic families with FBN1 mutations
19913121 Observational study of gene-disease association. (HuGE Navigator)
19889633 Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
19863550 Observational study of gene-disease association. (HuGE Navigator)
19802897 Missense mutations affecting glycine residues located at the third position of this cb-EGF-like subtype suggest the existence of a cb-EGF domain subtype with implications for MFS variants and related diseases.
19725129 This is the first report of mutations in both FBN1 and PTPN11 with combined phenotypes of Marfan and LEOPARD syndromes.
19639654 Observational study of gene-disease association. (HuGE Navigator)
19618372 sequence analysis of FBN1 premature termination codons provides evidence for incomplete sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. in leukocytes.(
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19573590 The promoter region of the Marfan syndrome gene, FBN1, has been characterized.
19570982 fibulin-5 controlled elastin deposition on microfibrils, although fibulin-4 can also bind fibrillin-1.
19533785 A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel in Marfan syndrome.
19533785 Observational study of gene-disease association. (HuGE Navigator)
19430350 Rationale and design of a trial evaluating the effects of losartan vs. nebivolol vs. the association of both on the progression of aortic root dilation in Marfan syndrome with FBN1 gene mutations.
19396033 R2726W mutation is not responsible for skeletal malformation of primary protrusio acetabuli in our population, although there may be unidentified genetic variants in either FBN1 or other genes that control acetabular morphology
19396033 Observational study of gene-disease association. (HuGE Navigator)
19390640 We detected two novel mutations in FBN1 in two Chinese families with ectopia lentis (EL) and marfanoid habitus.
19361604 Observational study of gene-disease association. (HuGE Navigator)
19358237 A decreased gene signal and weaker immunoreactivity for fibrillin-1, important for the elastic fiber assembly, was discovered in women with SUI. Loss of tissue elasticity could lead to increased urethra hypermobility and SUI
19353630 patients with only one major clinical criterion and patients with only one to three minor criteria do exist but represent only 5% of the adult cohort of all patients with FBN1 mutation.
19353630 Observational study of gene-disease association. (HuGE Navigator)
19328768 This study evaluated the sensitivity of melting analysis as an alternative method for scanning a gene FBN1.
19328768 Observational study of genetic testing. (HuGE Navigator)
19293843 Data show that the best predictor of the identification of a mutation in the FBN1 gene was the presence of features in at least three organ systems, combining one major, and various minor criteria.
19293843 Observational study of genetic testing. (HuGE Navigator)
19182256 Observational study of gene-disease association. (HuGE Navigator)
19167375 Data revealed that fibulin-5 is able to separately interact with tropoelastin or fibrillin-1 in the culture medium. Moreover, elastin, fibrillin-1, and fibulin-5 co-localize in the extracellular matrix.
19161152 Observational study of gene-disease association. (HuGE Navigator)
19159394 We here report 22 novel and 9 recurrent mutations in the FBN1 gene in 36 patients with clinical features of Marfan syndrome
19119630 The expression of fibrillin 1 in keloid was positively correlated to the expression of TGF-beta1.
19117906 In addition to classic Marfan syndrome (MFS), pathogenic FBN1 mutations described in this review are responsible for a large phenotypic spectrum ranging from neonatal MFS to mild clinical entities.
19059503 certain trans-located FBN1 mutations might act as modifiers of phenotype explaining some of the intrafamilial variability in Marfan syndrome
19037100 Mapping studies revealed that the major binding interaction between fibrillins and fibronectin involves the collagen/gelatin-binding region between domains FNI(6) and FNI(9).
19002209 even if the exons 24-32 location appears as a major cause of the severity of the phenotype in patients with a FBN1 mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.
19002209 Observational study of gene-disease association. (HuGE Navigator)
18805282 The existence of "exonic DNA variants" involving the fibrillin-1 gene in 1 or more exons (exon 24-28)are more pronounced in patients with tetralogy of Fallot and dilated aorta in the presence of abnormal aortic histopathology.
18805282 Observational study of gene-disease association. (HuGE Navigator)
18795226 FBN1 pseudoexon mutation is associated with Marfan syndrome.
18669635 fibrillin-1 N-terminal interactions with heparin/heparan sulfate directly influence cell behavior, whereas C-terminal interactions with heparin/heparan sulfate regulate elastin deposition.
18615205 Clinical examination and pedigree analysis revealed that four members in three generations were affected by late-onset lens dislocation and secondary glaucoma showing linkage to FBN1.
18471089 Our data on two novel FBN1 gene mutations preliminarily establish a genotype-phenotype correlation in the diagnostic process of MFS and predominant ectopia lentis (EL) with Marfan-like features.
18448684 These results suggest a new mechanism for microfibril formation where fibrillin-1 first oligomerizes via its C terminus before the partially or fully assembled bead-like structures can further interact with other beads via the fibrillin-1 N termini.
18435798 detected FBN1 mutations in 88% of patients with MFS and in 36% of patients with other fibrillinopathies type I, confirming that FBN1 mutations are good predictors of classic MFS.
18435798 Observational study of gene-disease association. (HuGE Navigator)
18412115 Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy.
18339631 the fibrillin microfibril network has a role in the extracellular control of BMP signaling
18310266 The aim of the study was to identify patients who should be considered for FBN1 mutation screening.
18278837 No association was detected between the polymorphic markers of FBN1 and systemic sclerosis in 2 European Caucasian populations.
18278837 Observational study of gene-disease association. (HuGE Navigator)
18084245 a strong candidate to be involved in the etiology and pathogenesis of emphysema
18079676 Convincing evidence for a correlation of R240C and isolated ectopia lentis.
18062611 Report observed that fibrillin filament attachment sites to lymphatic endothelial cells merge with alphav-beta3 integrins and Focal Adhesion Protein-Tyrosine Kinases.
18006876 Discrete domains of fibrillins-1 and -2 interact with lung fibroblast integrins and direct their migration in the presence of platelet-derived growth factor (PDGF)-A.
17996480 Data show the ultraconservation within an alternate promoter of FBN1 and suggest that the ultraconservation may reflect the importance of finely tuned regulation of alternate transcription of FBN1..............
17984934 A novel non-synonymous missense mutation in the transforming growth factor beta binding protein-like (TB) domain of the FBN1 gene was found in exon 24. This mutation was present in the proband and in two other affected family members.
17701892 study investigated the correlation between the FBN1 genotype and the nature and severity of the clinical phenotype in 1,013 probands with Marfan syndrome or related phenotypes
17680538 Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.
17679947 This is the first report of cysteine residue loss in the unique NH2-terminal domain of fibrillin-1.
17663468 May be useful in predictive testing for Marfan syndrome.
17657824 Mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
17627385 Unrelated patients with Marfan syndrome phenotypes showed mutations including 93 different mutations in fibillin 1.
17568394 This family is the first molecularly confirmed recessive MFS
17492313 Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
17418587 Observational study of gene-disease association. (HuGE Navigator)
17324963 Co-operative dependence of domain folding where calcium binding to cbEGF13 is required before cbEGF12 can adopt a native Ca(2+)-dependent fold.
17293099 LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1
17285469 The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils.
17255108 ternary complex formation between fibrillin-1, fibulins, and tropoelastin demonstrated that fibulin-2 and -5 but much less fibulin-4, are able to act as molecular adaptors between fibrillin-1 and tropoelastin
17253931 Automated sequencing using the robotic systems is well suited as a primary strategy for diagnostic mutation identification in FBN1.
17242066 fibrillin-1, which forms extracellular microfibrils, can regulate the bioavailability of transforming growth factor (TGF) beta1
17209430 Observational study of gene-disease association. (HuGE Navigator)
17209430 We report 2 missense mutations occur in calcium-binding Epidermal Growth Factor-like (EGFcb) domains and 9 polymorphisms located both in coding and noncoding regions of FBN1 gene.
17158881 identifies integrin alphaVbeta6 as a novel cellular receptor for fibrillin-1 with a K(d) of approximately 0.45 mum
17158461 A model is proposed in which fibrillin-1 molecules are staggered in microfibrils; it suggests that the N-terminal half of fibrillin-1 is asymmetrically exposed in the outer filaments, whereas the C-terminal half is present in the microfibril interior.
17030689 A recombinant human fibrillin-1 fragment possesses chemotactic stimulatory activity for mouse macrophages similar to that of elastin degradation peptides.
17024364 Observational study of gene-disease association. (HuGE Navigator)
17024364 One of the SNPs, rs8033037, in exon 15 showed a significant correlation with the adult height, suggesting that FBN1 is one of the 'stature genes' of normal individuals.
16971892 Sequencing revealed a C965G substitution, resulting in an S322C coding change. This study expands the Marfan phenotype and demonstrates a possible link between guttae, glaucoma, and fibrillin 1 disorders.
16905551 mutations in fibrillin-1 may have a role in gross morphological alterations in Marfan syndrome
16880403 analysis of fibrillin-1, including conformation of EGF arrays and mechanism for extensibility
16835936 A comprehensive genetic analysis of FBN1 was performed in patients with Marfan synndrome or Marfan-related phenotypes.
16802364 AECA subsets in the sera of patients with systemic sclerosis (SSc) and diffuse SSc induce patterns of human dermal endothelial cells gene expression in the setting of apoptosis with increased caspase 3 activity and reexpression of fibrillin 1.
16765689 A recurrent mutation of FBN1 gene resulted in an arginine-to-cysteine residue (p.R62C), is responsible for the patients with isolated ectopia lentis in a Chinese family.
16677079 Fibrillin-1 misfolding has a role in Marfan syndrome (MFS) and homocystinuria (HC) [review]
16617303 five novel variants in the 5' upstream region of the FBN1 gene in probands fulfilling the Ghent diagnostic criteria or with features of Marfan syndrome were found
16540720 Observational study of gene-disease association. (HuGE Navigator)
16528372 Data indicate that fibrillin-1 is strongly expressed by the neoplastic cells of thyroid carcinomas in different degree in the various histologic types and might be implicated in cell-stroma interaction in terms of signaling, attachment and migration.
16467653 Observational study of gene-disease association. (HuGE Navigator)
16467653 data do not support the hypothesis that aortic pulse wave velocity or pulse pressure are influenced by the FBN-1 variable nucleotide tandem repeat genotype
16222657 Sixty-two novel mutations within the FBN1 gene are associated with Marfan syndrome and other fibrillinopathies.
16103519 Observational study of gene-disease association. (HuGE Navigator)
16103519 In conclusion, the fibrillin-1 2-3 genotype in men was associated with increased aortic stiffness and pulse pressure, indicative of an increased risk for cardiovascular disease.
16096271 structural and functional modifications as well as degradation processes of fibrillin-1 in the connective tissues of patients with homocystinuria play a major role in the pathogenesis of this disorder
16042404 Domain 16 of fibrillin-1 is an anchor point for tropoelastin at the microfibril-elastin junction during the initial stages of elastic fiber assembly.
15980072 analysis of heparin binding to fibrillin-1
15861007 Marfan syndrome, the founding member of connective tissue disorders, is characterized by involvement of three major systems (skeletal, ocular, and cardiovascular) due to alteration in microfibrils. FBN1 at 15q21.
15713466 The phenotypic similarities between homocystinuria and Marfan syndrome suggest that elevated homocysteine levels may result in an altered function of fibrillin-1.
15657057 High affinity interactions between fibrillin-1 and perlecan were found by kinetic binding studies with dissociation constants in the low nanomolar range.
15654955 abnormal production of tropoelastin and fibrillin by heat in human skin and that their degradation by various MMP, such as MMP-12, may contribute to the accumulation of elastotic material in photoaged skin.
15649891 Results describe the binding characteristics of six fibrillin-1 calcium-binding epidermal growth factor-like domains, each preceded by a transforming growth factor beta-binding protein-like (TB) domain.
15569675 fibrillin-1 interactions regulate microfibril assembly
15371449 cysteine in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1 have roles in stability and cellular trafficking of proteins
15254584 Data are consistent with a model that invokes haploinsufficiency for wild type fibrillin-1, rather than production of mutant protein, as the primary determinant of failed microfibrillar assembly in Marfan syndrome.
15241795 Observational study of genotype prevalence. (HuGE Navigator)
15241795 eightfive novel mutations were identified in FBN1 in 93 classical Marfan syndrome patients.
15161917 cysteine mutations have an effect in calcium-binding epidermal growth factor modules of fibrillin-1
15161620 Mutations in FBN1 gene are not responsible for the manifestation of the autosomal dominant form of familial spontaneous penumothorax.
15131124 Results identify MAGP-2 binding regions in the N-terminal portion of fibrillin-1 and -2 molecules.
15054843 We report a recurrent FBN1 mutation, R240C, in the kindred. This mutation has been reported three times before.
14730633 defect in fibrillin-1 containing microfibrils in dermal fibroblasts from systemic sclerosis patients
14613297 FBN1 is the most likely candidate gene on the chromosome 15 haplotype associated with systemic sclerosis in the Choctaw Indians.
14586646 In a patient with neonatal Marfan syndrome, molecular analysis showed a heterozygous missense mutation at nucleotide 3165 (3165T>G) in exon 25 of the FBN1 gene, resulting in the substitution of cysteine for tryptophan (C1055W).
12946356 Results describe the intrinsic elastic properties of individual fibrillin microfibrils, which act as reinforcing fibres in fibrous composite tissues.
12918850 Observational study of gene-disease association. (HuGE Navigator)
12918850 Patients with mitral valve prolapse (MVP) have higher frequencies of fibrillin-1 (FBN1) exon 15 TT and exon 27 GG genotypes, which supports a role of the FBN1 exon 15 and 27 polymorphisms in determining the risk of MVP.
12915484 Allelic variation in normal FBN1 expression was found in a family with Marfan syndrome.
12807887 fibrillin-1 has a role in mediating cell adhesion
12651868 disease associated with missense mutations in FBN1 is caused either by an intracellular dominant negative effect or haploinsufficiency
12590922 relaxin does not regulate its mRNA and protein expression by human dermal fibroblasts and murine fetal skin.
12575662 A missense mutation is described for this gene.
12525539 An in frame fibrillin-1 gene deletion shows that autosomal dominant Weill-Marchesani syndrome and Marfan syndrome are allelic conditions at the fibrillin-1 locus.
12524050 In kidney, liver, rib anlagen, notochord fibrillin-1 and fibrillin-2 are distributed differentially. Different roles for fibrillin-1 and -2 in the development of these structures.
12511552 all fibrillin-1 (cb)EGF-cbEGF pairs, characterized by a single interdomain linker residue, possess this rod-like structure. The domain arrangement of cbEGF12-13 is stabilized by additional interdomain packing interactions
12429739 there is a molecular basis for compensation of one fibrillin (1 or 2) by the other during fetal life
12429738 fibrillin-1 is found associated with latent transforming growth factor beta-binding protein 1 in microfibrils
12399449 interactions with fibrillin-2 constitute the basis for the assembly of microfibrils
12384286 Observational study of gene-disease association. (HuGE Navigator)
12384286 Sequence analysis revealed eight coding and 14 non-coding SNPs and other polymorphisms. Among them, a CT insertion in the 5'-untranslated region of exon A had a significant negative association with disease.
12130535 a nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
11933199 Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
11854120 Observational study of gene-disease association. (HuGE Navigator)
11829507 NMR study of effects of N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1
11748851 FBN1 screening could be a helpful tool to confirm and possibly anticipate the clinical diagnosis in familial cases.
11700157 Observational study of gene-disease association. (HuGE Navigator)
11524736 Characterised five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC).
11315929 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPG      1 - 70
WKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCNIRCMNGGSCSDDHCLCQKGY     71 - 140
IGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERDYRTGPCFTVISNQMCQGQLSGIVCTKTLCC    141 - 210
ATVGRAWGHPCEMCPAQPHPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLN    211 - 280
EVSQKCEDIDECSTIPGICEGGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLP    281 - 350
QSITKMQCCCDAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFP    351 - 420
PGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSCRCECNKGFQLDLRGECID    421 - 490
VDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRICNNGRCINTDGSFHCVCNAG    491 - 560
FHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKPGFQLASDGRYCKDINECETPGICMNGRCVN    561 - 630
TDGSYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCP    631 - 700
AQNSAEYQALCSSGPGMTSAGSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECV    701 - 770
LNSLLCDNGQCRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDP    771 - 840
TKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGYSRIKGTQCED    841 - 910
IDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFLRYEDEECTLPIAGRHRMDAC    911 - 980
CCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEITNGKPFFKDINECKMIPSLCTHGKCRNTIGS    981 - 1050
FKCRCDSGFALDSEERNCTDIDECRISPDLCGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRD   1051 - 1120
PLLCRGGVCHNTEGSYRCECPPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTP   1121 - 1190
DRLFCVDIDECSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGE   1191 - 1260
YRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGCTDINECEIGA   1261 - 1330
HNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADCKNTMGSYRCLCKEGYTGDGF   1331 - 1400
TCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSADGKACEDIDECSLPNICVFGTCHNLPGLFRC   1401 - 1470
ECEIGYELDRSGGNCTDVNECLDPTTCISGNCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRP   1471 - 1540
RGDNGDTACSNEIGVGVSKASCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDEC   1541 - 1610
QELPGLCQGGKCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQ   1611 - 1680
VNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPSTDEFATLCGS   1681 - 1750
QRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYNDKLLVCEDIDECQNGPVCQR   1751 - 1820
NAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNICSHGQCIDTVGSFYCLCHTGFKTNDDQTMCL   1821 - 1890
DINECERDACGNGTCRNTIGSFNCRCNHGFILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNE   1891 - 1960
GYEVAPDGRTCVDINECLLEPRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCS   1961 - 2030
NTEGSFKCLCPEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCP   2031 - 2100
TEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILAGNECVDTDEC   2101 - 2170
SVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFRCVNTYGSYECKCPVGYVLRE   2171 - 2240
DRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGYQRRPDGEGCVDENECQTKPGICENGRCLNT   2241 - 2310
RGSYTCECNDGFTASPNQDECLDNREGYCFTEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPF   2311 - 2380
QGTVAFKKLCPHGRGFMTNGADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQ   2381 - 2450
APKPCNFICKNTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHT   2451 - 2520
SCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHGCQNIIGGYRC   2521 - 2590
SCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYEQFSGGCQDINECGSAQAPCS   2591 - 2660
YGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPPVSGEMDDNSLSPEACYECKINGYPKRGRKR   2661 - 2730
RSTNETDASNIEDQSETEANVSLASWDVEKTAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNE   2731 - 2800
DGFFKINQKEGISYLHFTKKKPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLL   2801 - 2870
H//

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26601954 2016 Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation.
26471116 2016 The ocular phenotype of stiff-skin syndrome.
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26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
25957947 2015 The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?
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25900864 2015 Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.
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25805839 2015 Correlation between Fibrillin-1 Degradation and mRNA Downregulation and Myofibroblast Differentiation in Cultured Human Dental Pulp Tissue.
25749384 2015 Fibrillin-1, induced by Aurora-A but inhibited by BRCA2, promotes ovarian cancer metastasis.
25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.
25729264 2015 C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.
25656438 2015 Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
25652400 2015 The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.
25652356 2015 Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
25613431 2015 Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.
25583878 2015 FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta.
25519456 2015 Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome.
25406291 2014 Human eye development is characterized by coordinated expression of fibrillin isoforms.
25370960 2014 A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture.
25142510 2014 Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
25034023 2014 Heparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assembly.
24982166 2014 C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.
24940037 2014 Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.
24867584 2014 Confocal microscopy demonstrates association of LTBP-2 in fibrillin-1 microfibrils and colocalisation with perlecan in the disc cell pericellular matrix.
24837032 2014 Increased carotid plaque burden in men with the fibrillin-1 2/3 genotype.
24833718 2014 Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
24793577 2014 The spectrum of FBN1, TGF?R1, TGF?R2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).
24743685 2014 Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection.
24698609 2014 Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.
24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
24613577 2014 Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
24610719 2014 An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?
24564502 2014 Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.
24504995 2014 Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).
24484584 2014 Exome sequencing identified new mutations in a Marfan syndrome family.
24413999 2014 Association study of common variations of FBN1 gene and essential hypertension in Han Chinese population.
24343123 2013 New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24199744 2014 Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
24161884 2014 Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
24078565 2013 [Mutation analysis and prenatal diagnosis of FBN1 gene mutations for four patients with Marfan syndrome].
24070235 2013 Complex contributions of fibronectin to initiation and maturation of microfibrils.
24039232 2013 Fibrillin-1 directly regulates osteoclast formation and function by a dual mechanism.
24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
24035709 2013 Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.
23991918 2014 Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.
23979707 2013 SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.
23963856 2013 Detection of hypermethylated fibrillin-1 in the stool samples of colorectal cancer patients.
23963449 2013 Homotypic versican G1 domain interactions enhance hyaluronan incorporation into fibrillin microfibrils.
23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
23860323 2013 Regulation of fibrillin-1 gene expression by Sp1.
23794388 2013 Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.
23762390 2013 Differential regulation of extracellular matrix and soluble fibulin-1 levels by TGF-?? in airway smooth muscle cells.
23658023 2013 Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance.
23592911 2013 Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23176764 2013 FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.
23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
23124041 2013 A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.
23119075 2012 Immobilized metal affinity chromatography co-purifies TGF-?1 with histidine-tagged recombinant extracellular proteins.
23104139 2013 Comparative immunolocalisation of fibrillin-1 and perlecan in the human foetal, and HS-deficient hspg2 exon 3 null mutant mouse intervertebral disc.
23010571 A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module.
22950452 Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).
22876116 2012 Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
22782528 2012 Selective integrin subunit reduction disrupts fibronectin extracellular matrix deposition and fibrillin 1 gene expression.
22772377 2013 Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
22736615 2012 A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
22545955 2012 Fibrillin-1 genotype and risk of prevalent hypertension: a study in two independent populations.
22539873 2012 A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
22393277 2012 Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.
22355679 2011 Essential role of microfibrillar-associated protein 4 in human cutaneous homeostasis and in its photoprotection.
22262941 2012 A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
22242013 2012 Microenvironmental regulation by fibrillin-1.
22219643 2011 Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
22034023 Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma.
22005308 2011 [Genotypic characterization of a Portuguese population of Marfan syndrome patients].
21976953 2011 Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.
21936929 2011 Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.
21909107 2011 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
21895641 2012 Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
21880733 2011 ADAMTSL6? protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly.
21851253 2012 Fibrillin-1 and fibrillin-2 are essential for formation of thick oxytalan fibers in human nonpigmented ciliary epithelial cells in vitro.
21840105 2012 Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.
21789464 2011 Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.
21784848 2011 Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
21726527 2011 FBN1 isoform expression varies in a tissue and development-specific fashion.
21683322 2011 Mutations in the TGF? binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
21617610 2011 ?-smooth muscle actin, fibrillin-1, apoptosis and proliferation detection in primary varicose lower limb veins of women.
21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
21542060 2011 Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
21540769 2011 Comparative immunolocalization of the elastin fiber-associated proteins fibrillin-1, LTBP-2, and MAGP-1 with components of the collagenous and proteoglycan matrix of the fetal human intervertebral disc.
21527992 2011 A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.
21402694 2011 ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.
21331051 2011 Novel genetic variation in exon 28 of FBN1 gene is associated with essential hypertension.
21211293 2010 [Screening of FBN1 gene mutations in a family with Marfan syndrome].
21135753 2011 Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
21063442 2011 The clinical spectrum of complete FBN1 allele deletions.
21034599 2010 Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype.
20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
20886638 2010 The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
20850568 2011 Anti-fibrillin-1 autoantibodies in normal pregnancy and recurrent pregnancy loss.
20803651 2010 Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
20729124 2010 Postmortem genetic analysis for a sudden death case complicated with Marfan syndrome.
20709720 2010 Cardiovascular manifestations in men and women carrying a FBN1 mutation.
20686071 2010 Microfibrils and fibrillin-1 induce integrin-mediated signaling, proliferation and migration in human endothelial cells.
20672986 2011 Osteosarcoma in a Marfan patient with a novel premature termination codon in the FBN1 gene.
20662850 2011 Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
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.
20564469 2010 Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
20547088 2010 A Japanese-specific allele in the GALNT11 gene.
20537417 2011 Impact of genomic polymorphism on arterial hypertension after aortic coarctation repair.
20478419 De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
20455198 2010 Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.
20451256 2010 A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
20360993 2010 Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
20199707 2010 Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse.
20085885 2010 [Two novel mutations of FBN1 gene in the patients with MFS among Han population].
20082464 2010 FBN1 mutations in patients with descending thoracic aortic dissections.
19996017 2009 Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
19941982 Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19889633 2010 Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
19863550 2010 Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
19802897 2010 Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
19725129 2009 Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.
19639654 2009 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
19618372 2009 Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19573590 2009 Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1.
19570982 2009 Differential regulation of elastic fiber formation by fibulin-4 and -5.
19533785 2009 Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
19446531 2009 Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins.
19430350 2009 Rationale and design of a trial evaluating the effects of losartan vs. nebivolol vs. the association of both on the progression of aortic root dilation in Marfan syndrome with FBN1 gene mutations.
19396033 2009 Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip.
19390640 2009 Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.
19361604 2009 Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population.
19358237 2010 Decreased gene expression of fibrillin-1 in stress urinary incontinence.
19353630 2009 Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
19328768 2009 Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.
19293843 2009 Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
19182256 2009 Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
19167375 2009 DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner.
19161152 2009 Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
19159394 2009 Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19119630 2008 [The expression of fibrillin 1 in pathologic scars and its significance].
19117906 2009 Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
19059503 Compound-heterozygous Marfan syndrome.
19037100 2009 Fibrillin assembly requires fibronectin.
19002209 2009 Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
18805282 2008 Role of fibrillin-1 genetic mutations and polymorphism in aortic dilatation in patients undergoing intracardiac repair of tetralogy of Fallot.
18795226 2008 An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
18669635 2008 Heparan sulfate regulates fibrillin-1 N- and C-terminal interactions.
18615205 2008 Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
18471089 2008 The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
18448684 2008 Biogenesis of extracellular microfibrils: Multimerization of the fibrillin-1 C terminus into bead-like structures enables self-assembly.
18435798 2008 FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
18412115 2008 Severe Marfan syndrome due to FBN1 exon deletions.
18339631 2008 Targeting of bone morphogenetic protein growth factor complexes to fibrillin.
18310266 2008 Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
18278837 2008 Polymorphic markers of the fibrillin-1 gene and systemic sclerosis in European Caucasian patients.
18084245 2008 Aberrant fibrillin-1 expression in early emphysematous human lung: a proposed predisposition for emphysema.
18079676 2007 A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
18062611 2007 Mechanotransduction in lymphatic endothelial cells.
18006876 2008 Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration.
17996480 2008 A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.
17984934 2007 Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS).
17903305 2007 A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
17680538 2007 [Two gene mutations in fibrillin 1 of Marfan syndrome].
17679947 2007 Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
17663468 2007 Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
17627385 2007 Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
17568394 2007 Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
17492313 2007 Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
17418587 2007 Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
17324963 2007 Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
17293099 2007 LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein.
17285469 2007 Actual management of patients with familial ascending aortic aneurysms and type-A aortic dissections.
17255108 2007 Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.
17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
17242066 2007 Fibrillin-1 regulates the bioavailability of TGFbeta1.
17209430 [AFBN1 gene in patients with Marfan syndrome].
17158881 2007 alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity.
17158461 2007 Effects of fibrillin-1 degradation on microfibril ultrastructure.
17030689 2006 Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment.
17024364 2007 Fibrillin I gene polymorphism is associated with tall stature of normal individuals.
16971892 2006 Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.
16905551 2006 Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
16880403 2006 Nanostructure of fibrillin-1 reveals compact conformation of EGF arrays and mechanism for extensibility.
16835936 2006 Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
16802364 2006 Induction of apoptosis and fibrillin 1 expression in human dermal endothelial cells by scleroderma sera containing anti-endothelial cell antibodies.
16765689 2006 Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.
16677079 Fibrillin-1 misfolding and disease.
16617303 2006 Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16540720 2006 Influence of fibrillin-1 genotype on aortic stiffness in men: a note of caution.
16528372 2006 Fibrillin expression and localization in various types of carcinomas of the thyroid gland.
16467653 2006 Genetic variation in fibrillin-1 gene is not associated with arterial stiffness in apparently healthy individuals.
16222657 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
16220557 2005 Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
16103519 2005 Influence of fibrillin-1 genotype on the aortic stiffness in men.
16096271 2005 Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria.
16042404 2005 Coacervation is promoted by molecular interactions between the PF2 segment of fibrillin-1 and the domain 4 region of tropoelastin.
15980072 2005 Fibrillin-1 interactions with heparin. Implications for microfibril and elastic fiber assembly.
15861007 2005 Molecular genetics of Marfan syndrome.
15790312 2005 Fibulin-5 interacts with fibrillin-1 molecules and microfibrils.
15781745 2005 Treatment of aortic disease in patients with Marfan syndrome.
15776436 2005 Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.
15713466 2005 Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria.
15657057 2005 Microfibrils at basement membrane zones interact with perlecan via fibrillin-1.
15654955 2005 Heat modulation of tropoelastin, fibrillin-1, and matrix metalloproteinase-12 in human skin in vivo.
15649891 2005 Ca2+-dependent interface formation in fibrillin-1.
15569675 2005 Homotypic fibrillin-1 interactions in microfibril assembly.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15371449 2004 Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.
15254584 2004 Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.
15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
15221638 2004 Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.
15165854 2004 Molecular structure and interaction of recombinant human type XVI collagen.
15161917 2004 Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
15161620 2004 Familial spontaneous pneumothorax and FBN1 mutations.
15131124 2004 MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils.
15062093 2004 Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization.
15054843 2004 Ectopia lentis phenotypes and the FBN1 gene.
14730633 2004 Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma).
14695540 2004 Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
14613297 2003 Examination of the possible role of biologically relevant genes around FBN1 in systemic sclerosis in the Choctaw population.
14586646 2004 Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.
12946356 2003 Fibrillin microfibrils are stiff reinforcing fibres in compliant tissues.
12918850 2003 Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse.
12915484 2003 Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
12807887 2003 Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins.
12695261 2003 Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.
12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
12590922 2003 Relaxin regulates fibrillin 2, but not fibrillin 1, mRNA and protein expression by human dermal fibroblasts and murine fetal skin.
12575662 2003 Gene symbol: FBN1. Disease: Marfan syndrome.
12525539 2003 In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
12524050 2002 Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development.
12511552 2003 Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12429739 2003 Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences.
12429738 2003 Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein.
12402346 2002 Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
12399449 2002 Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils.
12384286 2002 Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma.
12203992 2002 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
12203987 2002 Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
12161601 2002 Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
12122015 2002 Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly.
11933199 2002 Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
11923248 2002 Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes.
11854120 2002 Fibrillin-1 genotype is associated with aortic stiffness and disease severity in patients with coronary artery disease.
11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
11726670 2002 Versican interacts with fibrillin-1 and links extracellular microfibrils to other connective tissue networks.
11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
11481325 2001 Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1.
11461921 2001 Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly.
11315929 2001 Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations.
11108952 2000 Fibrillin-1, a calcium binding protein of extracellular matrix.
10931876 2000 New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse.
10825173 2000 Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly.
10793130 2000 The microfibrillar proteins MAGP-1 and fibrillin-1 form a ternary complex with the chondroitin sulfate proteoglycan decorin.
10694921 1998 A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.
10636927 2000 Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1.
10633129 2000 The molecular genetics of Marfan syndrome and related microfibrillopathies.
10547375 1999 Regulation of fibrillin carboxy-terminal furin processing by N-glycosylation, and association of amino- and carboxy-terminal sequences.
10504303 1999 Fibrillin assembly: dimer formation mediated by amino-terminal sequences.
10441597 1999 Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
10425041 1999 Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
10424889 1999 Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues.
10359653 1999 N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly.
10085138 1999 Processing of the fibrillin-1 carboxyl-terminal domain.
10036187 1999 Revised genomic organization of FBN1 and significance for regulated gene expression.
9886271 1999 Confocal laser scanning analysis of the association of fibulin-2 with fibrillin-1 and fibronectin define different stages of skin regeneration.
9837823 1998 Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
9817919 1998 Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
9452085 1998 Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
9401003 1997 Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
9362480 1997 Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils.
9338588 1997 P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
9338581 1997 Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
9254848 1997 A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
9150726 1997 The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
9016526 1997 Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
8988160 1997 P1148A in fibrillin-1 is not a mutation anymore.
8914744 1996 Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.
8882780 1996 Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
8863159 1996 Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
8702639 1996 Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues.
8653794 1996 Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders.
8594563 1996 Software and database for the analysis of mutations in the human FBN1 gene.
8568869 1996 Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1.
8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
8504310 1993 A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
8430317 1993 The skipping of constitutive exons in vivo induced by nonsense mutations.
8406497 1993 Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
8364578 1993 Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
8281141 1993 Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
8188302 1994 A novel mutation of the fibrillin gene causing ectopia lentis.
8136837 1994 Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
8120105 1994 Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.
8071963 1994 A new missense mutation of fibrillin in a patient with Marfan syndrome.
8040326 1994 An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
8004112 1994 Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
7977366 1994 A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
7951214 1994 Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
7911051 1994 Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
7870075 1994 A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
7762551 1995 A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
7738200 1995 A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
7691719 1993 Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end.
7611299 1995 Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7534784 1995 The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study.
3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.
2739055 1989 Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum.
1860873 1991 Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils.
1852208 1991 Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
1852207 1991 Partial sequence of a candidate gene for the Marfan syndrome.
1852206 1991 Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
1769651 1991 Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.
1569206 1992 Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
1301946 1992 Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.