Property Summary

NCBI Gene PubMed Count 123
PubMed Score 786.48
PubTator Score 108.45

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
interstitial lung disease 292 0.0 2.0
Disease Target Count Z-score Confidence
Arrhythmogenic right ventricular cardiomyopathy 27 0.0 5.0

Expression

  Differential Expression (15)

Disease log2 FC p
Waldenstrons macroglobulinemia -1.709 6.7e-03
chronic lymphocytic leukemia -1.745 1.7e-03
malignant mesothelioma 2.100 1.5e-06
oligodendroglioma -1.800 3.0e-02
group 4 medulloblastoma 3.200 1.7e-08
cystic fibrosis -2.059 7.5e-06
non-small cell lung cancer 3.805 1.3e-26
lung cancer 4.000 2.7e-07
interstitial cystitis -2.200 7.5e-04
lung adenocarcinoma 1.930 3.4e-04
atypical teratoid/rhabdoid tumor 1.400 1.9e-02
posterior fossa group A ependymoma 1.100 8.5e-03
lung carcinoma 1.600 1.8e-09
ductal carcinoma in situ 2.700 1.4e-02
ovarian cancer 3.200 2.9e-05

 GWAS Trait (1)

Gene RIF (64)

PMID Text
26604139 Syndrome featuring erythrokeratodermia and cardiomyopathy (EKC) caused by mutation in DSP was described. Specific region of DSP protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin was identified.
26073755 novel de novo heterozygous missense mutation caused severe dermatitis, multiple allergies, and metabolic wasting syndrome
25900994 Case Report: PKP2/DSP mutations in patient with Brugada syndrome and ventricular tachycardia.
25771974 Patients whose MPM tissues expressed elevated mRNA levels of BIRC5, DSP, NME2, and THBS2 showed a statistically significant shorter overall survival.
25733715 GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
25616123 There is higher incidence of Myocarditis in DSP mutation carriers affected by Arrhythmogenic right ventricular dysplasia.
25516398 Genetic testing revealed a novel combination of two heterozygous mutations in the DSP gene encoding desmoplakin
25227139 Case Reports: desmoplakin mutations associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations.
25225338 a subset of arrhythmogenic cardiomyopathy mutations, in addition to a mutation associated with skin fragility/woolly hair syndrome, impair gap junction localization and function by misregulating DP-EB1 interactions and altering microtubule dynamics.
25010392 our data indicate that DP phosphorylation at S2849 represents an important mechanism in pemphigus pathogenesis
23954618 Arrhythmogenic right ventricular cardiomyopathy patients of a three-generation Spanish family with a novel nonsense genetic variation in the DSP gene.
23546957 Data indicate that desmoplakin (DSP) and cystatin A (CSTA) interaction and insulin-like growth factor 1 (IGF-1), IGF-binding protein 7 (IGFBP7) and syndecan 1 (SDC1) interaction were observed in protein-protein interaction (PPI) network.
23137101 The cardiomyopathy mechanisms varied accordingly to the specific types of DSP mutation identified and included haploinsufficiency, dominant-negative effects, or a combination hereof.
22949226 In two unrelated patients with Naxos-Carvajal syndrome, a single heterozygous de novo mutation in the desmoplakin gene DSP, p.Leu583Pro and p.Thr564Ile, leading to severe phenotypes was found.
22898789 Desmoplakin and pGSK3beta constitute independent good prognostic factors for progression free survival in Ewing Sarcoma patients.
22791817 DSP is inactivated in lung cancer by an epigenetic mechanism, increases the sensitivity to anticancer drug-induced apoptosis and has tumor-suppressive function, possibly through inhibition of the Wnt/beta-catenin signaling pathway in NSCLC cells.
22454510 DSP splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
22304020 desmoplakin I levels, determined within 1-3 months of the first ischemic stroke, could be a biomarker for statin responsiveness against a new vascular event in post-ischemic stroke patients taking statins
22240500 Desmoplakin disease causes connexin mislocalization in the mouse & man preceding overt histological abnormalities resulting in significant alterations in conduction repolarization kinetics prior to morphological changes detectable on cardiac imaging
22213780 desmoplakin is a promising candidate for supportive CSF marker to rule out 14-3-3 false positive cases in sporadic Creutzfeldt-Jakob disease differential diagnosis.
22190034 The expression of desmoplakin (DSP) gene is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells
22132232 Palmitate significantly reduces DSP expression, and treatment with insulin restores the lost expression of DSP.
22082156 Knockdown of desmoplakin (DSP) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N
21993560 DP Ser2849Gly promotes hyperadhesion
21789513 Case Report: desmoplakin mutation responsible for juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
21756917 Mutations in desmoplakin protein is associated with cardiomyopathy.
21536047 intimate intramolecular association of the SH3 domain with the preceding SR is also observed in plectin, another plakin protein suggesting that the SH3 domain of plakins contributes to the stability and rigidity of this subfamily of SR-containing proteins
21458130 A novel nonsense mutation in the desmoplakin gene and the truncated protein which it produces caused left dominant arrhythmogenic cardiomyopathy
21397041 We detected a novel mutations: DSP T1373A and it may be associated with a risk for tachycardia
21156808 SERCA2-deficient cells exhibited up to a 60% reduction in border translocation of desmoplakin (DP), the desmosomal cytolinker protein necessary for intermediate filament (IF) anchorage to sites of robust cell-cell adhesion
20940358 autosomal-dominant mutations in the DSP gene are associated with hypo/oligodontia in the setting of Carvajal/Naxos syndrome
20864495 Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2.
20738328 Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all skin fragility-woolly hair syndrome affected family members.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20525856 Observational study of gene-disease association. (HuGE Navigator)
20524011 A novel minor isoform of desmoplakin that is also produced by alternative splicing of the desmoplakin gene, is described.
20215590 Observational study of genetic testing. (HuGE Navigator)
20139419 The expression of desmoplakin (DSP) gene is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells
20031617 Observational study of gene-disease association. (HuGE Navigator)
19945626 Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP)
19924139 we describe a combination of DP mutation phenotypes affecting the skin, heart, hair, and teeth
19913121 Observational study of gene-disease association. (HuGE Navigator)
19863551 Observational study of genetic testing. (HuGE Navigator)
19386346 Altered DSP expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer.
19271751 Three proteins were significantly elevated in PTB cases: desmoplakin isoform 1, stratifin, and thrombospondin 1 precursor, providing a foundation for further validation in larger patient cohorts.
19016709 Loss-of-function mutations in the DSP gene can result in a phenotype similar to ectodermal dysplasia-skin fragility syndrome resulting from PKP1 mutations but only DSP pathology is associated with cardiac disease
18632414 Mutations in the desmosome genes were identified in four of the five patients (three with a DSG2 mutation and one with a DSP mutation). Five gene mutations were noted in four patients and all mutations were novel (one patient had a DSG2 double mutation).
18596851 Observational study of gene-disease association. (HuGE Navigator)
17593084 The Ki67+ proliferation index was inversely correlated with desmoplakin and plakophilin-1 during cervical squamous cell carcinogenesis
17475244 Dp may participate in the regulation of keratinocyte cell proliferation by, in part at least, regulating cell cycle progression
16917092 Mutation analysis of 66 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients identified 4 variants in DSP; V30M, Q90R, W233X, and R2834H. A cause and effect relationship between those DSP missense mutations and ARVD/C was extablished.
16628197 A novel insertion mutation in desmoplakin is associated with early death from cardiomyopathy in a family with dominant striate palmoplantar keratoderma and wooly hair.
16467215 This is the first description of a phenotype caused by a mutation affecting only one DSP isoform.
16365169 Our data are consistent with the idea that DP assembles into nascent junctions from both diffusible and particulate pools in a temporally overlapping series of events triggered by cell-cell contact and regulated by actin and DP-IF interactions.
16175511 dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of desmoplakin in epidermal integrity
16061754 dominant mutation in desmoplakin that causes left-sided arrhythmogenic left ventricular cardiomyopathywith arrhythmias of left ventricular origin.
15500642 the involvement of desmoplakin (DP), plectin, and periplakin in the destruction of epithelial cell integrity ensures the efficient elimination of cytoskeleton, but also provides specificity for selectively targeting individual adhesion molecules
15494820 Naxos disease is not caused by the desmoplakin gene mutation in an arab family.
15381698 terminal tail is responsible for discerning among binding of factors to the armadillo domain
15190119 desmoplakin has a role in capillary formation
12373648 Mutation (S299R) in exon 7 of desmoplakin causes arrhythmogenic right ventricular cardiomyopathy, unlinked to other causes.
11955647 non-small cell lung carcinoma subtypes have specific patterns of desmoplakin 1 and 2 and cytokeratin 18 gene expression, protein content and biodistribution
11841538 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. haploinsufficiency

AA Sequence

MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTGTMSRHQNQNT      1 - 70
IQELLQNCSDCLMRAELIVQPELKYGDGIQLTRSRELDECFAQANDQMEILDSLIREMRQMGQPCDAYQK     71 - 140
RLLQLQEQMRALYKAISVPRVRRASSKGGGGYTCQSGSGWDEFTKHVTSECLGWMRQQRAEMDMVAWGVD    141 - 210
LASVEQHINSHRGIHNSIGDYRWQLDKIKADLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATS    211 - 280
REIMWINDCEEEELLYDWSDKNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAY    281 - 350
MDTLQTQWSWILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKE    351 - 420
LEKEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNER    421 - 490
SKWYVTGPGGVDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKI    491 - 560
RAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMFGDDDKRKIQSQFTDAQKHYQTLVIQLPGYP    561 - 630
QHQTVTTTEITHHGTCQDVNHNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSH    631 - 700
HITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTV    701 - 770
RALLQAILQTEDMLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHS    771 - 840
QTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCKWLYDAKRRQD    841 - 910
SLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKDYELQLASYTSGLETLLNIPI    911 - 980
KRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSE    981 - 1050
NCNKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIED   1051 - 1120
EKRRRKSVEDRFDQQKNDYDQLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYEN   1121 - 1190
ELAKVRNHYNEEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSI   1191 - 1260
LQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTIQDKNKEIERL   1261 - 1330
KAEFQEEAKRRWEYENELSKVRNNYDEEIISLKNQFETEINITKTTIHQLTMQKEEDTSGYRAQIDNLTR   1331 - 1400
ENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEVSQRKQQLEVELRQVTQMRTEESVRYKQSLD   1401 - 1470
DAAKTIQDKNKEIERLKQLIDKETNDRKCLEDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRI   1471 - 1540
DYERVSQERTVKDQDITRFQNSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEGMRRSLKEQAI   1541 - 1610
KITNLTQQLEQASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHL   1611 - 1680
RNEHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSEADSDKNATIL   1681 - 1750
ELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQESKNQCTQVVQERESLLVKIK   1751 - 1820
VLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSER   1821 - 1890
EKNSLRSEIERLQAEIKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWT   1891 - 1960
VDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYS   1961 - 2030
LVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF   2031 - 2100
SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQK   2101 - 2170
NFVDPVTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQ   2171 - 2240
ISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGFIVDPVSNLRL   2241 - 2310
PVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDP   2311 - 2380
KESHRLPVDIAYKRGYFNEELSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKK   2381 - 2450
KQVQTSQKNTLRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLV   2451 - 2520
DRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESV   2521 - 2590
SKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERGIVDSITGQRLLEAQACTGGI   2591 - 2660
IHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKEKWLPYEAGQRFLEFQ   2661 - 2730
YLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGL   2731 - 2800
RLLEAASVSSKGLPSPYNMSSAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIG   2801 - 2870
H//

Text Mined References (134)

PMID Year Title
26604139 2016 Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
26073755 2015 Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
25900994 2015 Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes.
25771974 2015 Expression status of candidate genes in mesothelioma tissues and cell lines.
25733715 2015 GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
25616123 2015 Genetics of myocarditis in arrhythmogenic right ventricular dysplasia.
25516398 Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
25227139 2015 Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
25225338 2014 Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.
25010392 2014 A desmoplakin point mutation with enhanced keratin association ameliorates pemphigus vulgaris autoantibody-mediated loss of cell cohesion.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23979707 2013 SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.
23954618 2013 Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy.
23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
23546957 2013 Protein interaction and microRNA network analysis in osteoarthritis meniscal cells.
23381804 2013 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23137101 2013 Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
22949226 2012 De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.
22898789 2012 Epithelial cell adhesion molecules and epithelial mesenchymal transition (EMT) markers in Ewing's sarcoma family of tumors (ESFTs). Do they offer any prognostic significance?
22889254 2013 Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy.
22795705 2012 Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.
22791817 2012 Desmoplakin acts as a tumor suppressor by inhibition of the Wnt/?-catenin signaling pathway in human lung cancer.
22781308 2012 Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22454510 2012 The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
22304020 2012 Plasma desmoplakin I biomarker of vascular recurrence after ischemic stroke.
22240500 2012 Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study.
22213780 2012 Desmoplakin as a potential candidate for cerebrospinal fluid marker to rule out 14-3-3 false positive rates in sporadic Creutzfeldt-Jakob disease differential diagnosis.
22132232 2011 Synergy analysis reveals association between insulin signaling and desmoplakin expression in palmitate treated HepG2 cells.
21993560 2012 Desmoplakin regulates desmosome hyperadhesion.
21789513 2011 Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
21756917 2011 The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21536047 2011 Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain.
21458130 2011 [Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin].
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21397041 2011 Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
21269460 2011 Initial characterization of the human central proteome.
21156808 2011 The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCα signaling.
21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
20940358 2011 A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
20859650 2011 E-cadherin and plakoglobin recruit plakophilin3 to the cell border to initiate desmosome assembly.
20738328 2011 Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
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.
20613772 2010 Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.
20525856 2010 Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin.
20524011 2010 Identification and characterization of DSPIa, a novel isoform of human desmoplakin.
20458337 MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
20302578 2010 Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
20215590 2010 Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
19945626 2010 Lethal acantholytic epidermolysis bullosa.
19924139 2010 Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19386346 2009 Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19271751 2009 Identification and quantification of preterm birth biomarkers in human cervicovaginal fluid by liquid chromatography/tandem mass spectrometry.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19016709 2009 Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18632414 2008 Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations.
18596851 2008 Arrhythmogenic right ventricular dysplasia.
18474624 2008 Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17593084 2007 The Ki67+ proliferation index correlates with increased cellular retinol-binding protein-1 and the coordinated loss of plakophilin-1 and desmoplakin during progression of cervical squamous lesions.
17475244 2007 Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
16628197 2006 Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16467215 2006 Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
16365169 2005 Desmoplakin assembly dynamics in four dimensions: multiple phases differentially regulated by intermediate filaments and actin.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16175511 2005 Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.
16061754 2005 Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.
15941723 2005 Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
15500642 2004 Plakin proteins are coordinately cleaved during apoptosis but preferentially through the action of different caspases.
15494820 2004 Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15381698 2004 beta-Catenin and plakoglobin N- and C-tails determine ligand specificity.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15190119 2004 Desmoplakin is required for microvascular tube formation in culture.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12875771 2003 A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.
12802069 2003 Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus.
12482924 2003 Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12426320 2003 The Armadillo family protein p0071 is a VE-cadherin- and desmoplakin-binding protein.
12373648 2002 Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
12366696 2002 Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin.
12101406 2002 Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure.
11955647 2002 Differential expression and biodistribution of cytokeratin 18 and desmoplakins in non-small cell lung carcinoma subtypes.
11841538 2002 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
11790773 2002 Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.
11790298 2002 Directed proteomic analysis of the human nucleolus.
11781569 2001 Desmoplakin is essential in epidermal sheet formation.
11500511 2001 The fate of desmosomal proteins in apoptotic cells.
11132762 2000 Epithelial structural proteins of the skin and oral cavity: function in health and disease.
11063735 2000 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
10852826 2000 Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.
10801826 2000 Platelet-endothelial cell adhesion molecule-1 (CD31), a scaffolding molecule for selected catenin family members whose binding is mediated by different tyrosine and serine/threonine phosphorylation.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
9887343 1999 Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
9739078 1998 VE-cadherin and desmoplakin are assembled into dermal microvascular endothelial intercellular junctions: a pivotal role for plakoglobin in the recruitment of desmoplakin to intercellular junctions.
9651377 1998 Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope.
9606214 1998 Defining the interactions between intermediate filaments and desmosomes.
9417921 1997 Fine mapping of 39 ESTs on human chromosome 6p23-p25.
9348293 1997 The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes.
9261168 1997 Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments.
9229116 1997 The plakin family: versatile organizers of cytoskeletal architecture.
8999895 1997 Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope.
8769422 1996 Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly.
7693716 1993 Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks.
7525601 1994 Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins.
7525582 1994 Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks.
2391353 1990 Structure of the human desmoplakins. Implications for function in the desmosomal plaque.
2247105 1990 Paraneoplastic pemphigus. An autoimmune mucocutaneous disease associated with neoplasia.
1889810 1991 Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).
1731325 1992 Molecular structure of the human desmoplakin I and II amino terminus.
1716629 1991 Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins.
1689290 1990 Structure of the human desmoplakins. Implications for function in the desmosomal plaque.