Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.
Klangjorhor J et al.
International Journal of Genomics, 2025
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.
Luo C et al.
Frontiers in Pediatrics, 2023
Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report.
Paine SK et al.
Molecular Genetics and Genomics : Mgg, 2022
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Nanda A et al.
International Journal of Dermatology, 2018
BPAG1, a distinctive role in skin and neurological diseases.
Ali A et al.
Seminars in Cell & Developmental Biology, 2017
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.
Mencía Á et al.
Experimental Dermatology, 2016
Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomes.
de Pereda JM et al.
The Embo Journal, 2009
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.
Jonkman MF et al.
The Journal of Investigative Dermatology, 2002
Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin.
Koster J et al.
The Journal of Investigative Dermatology, 2001
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH et al.
The British Journal of Dermatology, 2001
Advances and perspectives of the architecture of hemidesmosomes: lessons from structural biology.
de Pereda JM et al.
Cell Adhesion & Migration, 0
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