Associated Papers
Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Ellis C et al.
Jaad Case Reports, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4.
Yoshida K et al.
The Journal of Dermatology, 2019
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
Schumann H et al.
The British Journal of Dermatology, 2013
Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator.
Frew JW et al.
The Australasian Journal of Dermatology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Dang N et al.
Acta Dermato-venereologica, 2008
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
Pfendner E et al.
The Journal of Investigative Dermatology, 2005
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia.
Micheloni A et al.
The British Journal of Dermatology, 2004
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.
Jonkman MF et al.
The Journal of Investigative Dermatology, 2002
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH et al.
The British Journal of Dermatology, 2001
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
Inoue M et al.
The Journal of Investigative Dermatology, 2000
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