Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
about
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaA homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresiaCloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosaPhenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutationsMutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.Multiple functions of the integrin alpha6beta4 in epidermal homeostasis and tumorigenesisThe tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomesThe beta4 integrin interactor p27(BBP/eIF6) is an essential nuclear matrix protein involved in 60S ribosomal subunit assemblyBinding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament bindingCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionLaminin 5 binds the NC-1 domain of type VII collagenIdentification of the alpha6 integrin as a candidate receptor for papillomavirusesEpidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunitStomach development, stem cells and diseaseIsolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cellsIntegrins as receptors for lamininsEpidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlationsReduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separationGenomic organization of the human integrin beta4 geneTargeting leukocyte integrins in human diseasesFibulin-2 binds to the short arms of laminin-5 and laminin-1 via conserved amino acid sequencesIdentification of a novel structural variant of the alpha 6 integrinIntegrin-mediated regulation of epidermal wound functionsLaminin-511 is an epithelial message promoting dermal papilla development and function during early hair morphogenesisA toll-like receptor 2-responsive lipid effector pathway protects mammals against skin infections with gram-positive bacteriaBeta4 integrin is required for hemidesmosome formation, cell adhesion and cell survivalMolecular pathology of the cutaneous basement membrane zone.Caspase proteolysis of the integrin beta4 subunit disrupts hemidesmosome assembly, promotes apoptosis, and inhibits cell migration.Integrin beta4 regulates migratory behavior of keratinocytes by determining laminin-332 organizationThe eye in epidermolysis bullosaGene therapy and dermatology: more than just skin deep.Binding of USF to a non-canonical E-box following stress results in a cell-specific derepression of the lama3 gene.Adhesion receptors in health and disease.Laminins and human disease.Cutaneous gene transfer and therapy: the present and the future.The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion.Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function
P2860
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P2860
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
description
1995 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1995
@ast
im Juni 1995 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1995/06/01)
@sk
vědecký článek publikovaný v roce 1995
@cs
wetenschappelijk artikel (gepubliceerd op 1995/06/01)
@nl
наукова стаття, опублікована в червні 1995
@uk
name
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@ast
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@en
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@nl
type
label
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@ast
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@en
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@nl
prefLabel
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@ast
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@en
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@nl
P2093
P2860
P356
P1433
P1476
Integrin beta 4 mutations asso ...... s bullosa with pyloric atresia
@en
P2093
A. M. Christiano
D. Aberdam
J. P. Ortonne
L. Pulkkinen
P2860
P2888
P304
P356
10.1038/NG0695-229
P407
P577
1995-06-01T00:00:00Z