Associated Papers
High prevalence of extracutaneous involvement in ITG junctional epidermolysis bullosa.
Bonigen J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Epidermolysis bullosa with pyloric atresia.
Chung HJ et al.
Dermatologic Clinics, 2010
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
Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
Pfendner EG et al.
International Journal of Dermatology, 2007
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia.
Micheloni A et al.
The British Journal of Dermatology, 2004
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
Masunaga T et al.
Experimental Dermatology, 2004
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Nakano A et al.
Pediatric Research, 2001
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH et al.
The British Journal of Dermatology, 2001
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
Pulkkinen L et al.
American Journal of Human Genetics, 1998
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Mutlu M et al.
The Turkish Journal of Pediatrics, 0