Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4) - Wikidata - awgldk - TriplyDB

Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)

Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)

http://www.wikidata.org/entity/Q24678450

about

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.α6β4 integrin, a master regulator of expression of integrins in human keratinocytes.Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Epidermolysis bullosa with pyloric atresia.Molecular and genetic basis of inherited nephrotic syndrome Granzyme B is elevated in autoimmune blistering diseases and cleaves key anchoring proteins of the dermal-epidermal junction.

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Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)

http://www.wikidata.org/entity/Q24678450

description

1998 nî lūn-bûn

@nan

1998 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի հունվարին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

name

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@ast

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@en

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@nl

type

label

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@ast

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@en

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@nl

prefLabel

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@ast

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@en

Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@nl

P1433

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P2860

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The American Journal of Pathology

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Epidermolysis bullosa with pyl ...... he beta4 integrin gene (ITGB4)

@en

P2093

D U Kim

http://www.w3.org/2001/XMLSchema#string

J Uitto

http://www.w3.org/2001/XMLSchema#string

L Pulkkinen

http://www.w3.org/2001/XMLSchema#string

P2860

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia

Complete amino acid sequence of a novel integrin beta subunit (beta 6) identified in epithelial cells using the polymerase chain reaction

Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia

cDNA sequence of the human integrin beta 5 subunit

Molecular cloning of the human alpha 6 integrin subunit. Alternative splicing of alpha 6 mRNA and chromosomal localization of the alpha 6 and beta 4 genes

Cloning and sequence analysis of a novel beta 2-related integrin transcript from T lymphocytes: homology of integrin cysteine-rich repeats to domain III of laminin B chains

Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival

Desmosomes and hemidesmosomes: structure and function of molecular components.

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157-166

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scholarly article

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P433

1

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152

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1998-01-01T00:00:00Z

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9422533

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P932

1858138

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