A Novel Homozygous Mutation Affecting Integrin α6 in a Case of Junctional Epidermolysis Bullosa with Pyloric Atresia Detected In Utero by Ultrasound Examination-Reference-Cited by-同舟云学术

A Novel Homozygous Mutation Affecting Integrin α6 in a Case of Junctional Epidermolysis Bullosa with Pyloric Atresia Detected In Utero by Ultrasound Examination

Published:1998-11 Issue:5 Volume:111 Page:914-916
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Gache Yannick,Romero-Graillet Christine,Spadafora Anne,Lépinard Catherine,Descamps Philippe,Bardon Claudine Blanchet,Ortonne Jean Paul,Meneguzzi Guerrino

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference7 articles.

1. Hemidesmosome assembly assessed by expression of a wild type integrin β4 cDNA in junctional epidermolysis bullosa keratinocytes;Gagnoux‐palacios;Lab Invest,1997

2. Hemidesmosome ontogeny in digit skin of the human fetus;McMillan;Arch Dermatol Res,1996

3. HD4 a 180 kD bullous pemphigoid antigen is a major transmembrane glycoprotein of the hemidesmosome;Nishizawa;Biochemistry,1993

4. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia;Pulkkinen;Hum Mol Genet,1997

5. A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia;Ruzzi;J Clin Invest,1997

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. (New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature;European Journal of Obstetrics & Gynecology and Reproductive Biology;2023-11

2. Compound heterozygosity for novel splice site mutations ofITGA6in lethal junctional epidermolysis bullosa with pyloric atresia;The Journal of Dermatology;2016-09-08

3. A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing;Experimental Dermatology;2010-10-18

4. Usage of heparan sulfate, integrins, and FAK in HPV16 infection;Virology;2010-07

5. Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients;American Journal of Medical Genetics Part A;2008