Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy-Reference-Cited by-同舟云学术

Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy

Published:2022-11-01 Issue:5 Volume:187 Page:826-828
ISSN:1365-2133
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Malovitski Kiril¹²,Meijers Odile¹,Cohen-Barak Eran³⁴,Bergman James⁵,Adir Noam⁶,Giladi Moshe⁷⁸,Shalev Stavit⁴⁹,Sarig Ofer¹^ORCID,Schwartz Janice¹⁰,Evans Holly¹⁰^ORCID,Sprecher Eli¹²¹⁰^ORCID,Samuelov Liat¹²^ORCID

Affiliation:

1. Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel

2. Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

3. Department of Dermatology Ha’Emek Medical Center Afula Israel

4. Bruce and Ruth Rappaport Faculty of Medicine, Technion Haifa Israel

5. Department of Dermatology & Skin Science The University of British Columbia Vancouver BC Canada

6. Schulich Faculty of Chemistry Technion - Israel Institute of Technology Haifa Israel

7. Ophthalmology Division Tel Aviv Sourasky Medical Center Tel Aviv Israel

8. Department of Physiology and Pharmacology, Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

9. Institute of Human Genetics Ha’Emek Medical Center Afula Israel

10. Pachyonychia Congenita Project Holladay UT USA

Abstract

Funder

Donation from the Ram family

Israel Science Foundation

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.21774

Reference8 articles.

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2. α6β4 integrin, a master regulator of expression of integrins in human keratinocytes;Kligys;J Biol Chem,2012

3. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense;Pulkkinen;Am J Hum Genet,1998

4. Heterozygosity for a novel missense mutation in the ITGB4 gene associated with autosomal dominant epidermolysis bullosa;Turcan;JAMA Dermatol,2016

5. Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhere;Whittaker;Mol Biol Cell,2002

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1. Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report;JAAD Case Reports;2024-08

2. A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa;Pediatric Dermatology;2023-02-22