Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 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
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Tetraspanin CD151 and integrin α3β1 contribute to the stabilization of integrin α6β4-containing cell-matrix adhesions.
Te Molder L et al.
Journal of Cell Science, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
BPAG1, a distinctive role in skin and neurological diseases.
Ali A et al.
Seminars in Cell & Developmental Biology, 2017
The molecular architecture of hemidesmosomes, as revealed with super-resolution microscopy.
Nahidiazar L et al.
Journal of Cell Science, 2015
Epidermolysis bullosa with pyloric atresia.
Chung HJ et al.
Dermatologic Clinics, 2010
Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomes.
de Pereda JM et al.
The Embo Journal, 2009
Genetics of focal segmental glomerulosclerosis.
Woroniecki RP et al.
Pediatric Nephrology (berlin, Germany), 2007
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
The interaction of plectin with actin: evidence for cross-linking of actin filaments by dimerization of the actin-binding domain of plectin.
Fontao L et al.
Journal of Cell Science, 2001
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
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
Kambham N et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2000
Formation of hemidesmosome-like structures in the absence of ligand binding by the (alpha)6(beta)4 integrin requires binding of HD1/plectin to the cytoplasmic domain of the (beta)4 integrin subunit.
Nievers MG et al.
Journal of Cell Science, 2000
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: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
Mellerio JE et al.
The British Journal of Dermatology, 1998
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.
Pulkkinen L et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 1997
Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.
Wallerstein R et al.
Pediatric Dermatology, 0
Advances and perspectives of the architecture of hemidesmosomes: lessons from structural biology.
de Pereda JM et al.
Cell Adhesion & Migration, 0