Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
about
Inherited epidermolysis bullosaIdentification of the junctional plaque protein plakophilin 3 in cytoplasmic particles containing RNA-binding proteins and the recruitment of plakophilins 1 and 3 to stress granulesThe desmosomeA homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesiclesDefining desmosomal plakophilin-3 interactionsDefining the interactions between intermediate filaments and desmosomesHow do keratinizing disorders and blistering disorders overlap?Desmosome regulation and signaling in diseasePlakophilin-3 is required for late embryonic amphibian development, exhibiting roles in ectodermal and neural tissuesInteraction between Erbin and a Catenin-related protein in epithelial cellsProtein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signalingGenotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stabilityPlakophilins: multifunctional scaffolds for adhesion and signalingVE-cadherin: adhesion at arm's lengthLoss of desmoplakin tail causes lethal acantholytic epidermolysis bullosaRequirement of plakophilin 2 for heart morphogenesis and cardiac junction formationMutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathyDesmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkageMechanistic basis of desmosome-targeted diseasesThe function of plakophilin 1 in desmosome assembly and actin filament organizationIntermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strengthThe 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.Salivary proteomics in bisphosphonate-related osteonecrosis of the jaw.Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Mapping complex traits in diseases of the hair and skin.Molecular genetics of the hair follicle: the state of the art.A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.Loss of the desmosomal component perp impairs wound healing in vivo.Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.Ectodermal dysplasias: a new clinical-genetic classificationPalmitoylation of plakophilin is required for desmosome assemblyEctodermal dysplasias: not only 'skin' deep.The biology of the desmosome-like junction a versatile anchoring junction and signal transducer in the seminiferous epithelium.Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.Hair on a gene string: recent advances in understanding the molecular genetics of hair loss.Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000.Desmosomes: structure and function in normal and diseased epidermis.The genetics of human skin disease.Desmosome assembly and dynamics
P2860
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P2860
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@ast
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@en
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@en-gb
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@nl
type
label
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@ast
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@en
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@en-gb
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@nl
prefLabel
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@ast
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@en
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@en-gb
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@nl
P2093
P3181
P356
P1433
P1476
Mutations in the plakophilin 1 ...... plasia/skin fragility syndrome
@en
P2093
P2888
P304
P3181
P356
10.1038/NG1097-240
P407
P577
1997-10-01T00:00:00Z
P6179
1044195340