Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense-Reference-Cited by-同舟云学术

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Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense

Published:1998-11 Issue:5 Volume:63 Page:1376-1387
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Pulkkinen Leena,Rouan Fatima,Bruckner-Tuderman Leena,Wallerstein Robert,Garzon Maria,Brown Tod,Smith Lynne,Carter William,Uitto Jouni

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and β4 integrin, hemidesmosomal components of basal keratinocytes;Aho;Biochem Biophys Res Commun,1998

2. A radiation hybrid and physical map of human chromosome 17q25;Bhalerao;Am J Hum Genet Suppl,1997

3. The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the β4 integrin subunit;Borradori;J Cell Biol,1997

4. Defective integrin α6β4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia;Brown;J Invest Dermatol,1996

5. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in ten families by mutation and haplotype analysis in the type VII collagen gene (COL7A1);Christiano;Mol Med,1996

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1. Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement;Journal of Investigative Dermatology;2023-11

2. Association analysis for SNPs of LIPE and ITGB4 genes with cashmere production performance, body measurement traits and milk production traits in Liaoning cashmere goats;Animal Biotechnology;2023-07-10

3. Junctional epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-01-27

4. SCD1 Sustains Homeostasis of Bulge Niche via Maintaining Hemidesmosomes in Basal Keratinocytes;Advanced Science;2022-12-11

5. Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy;British Journal of Dermatology;2022-11-01

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