The COL7A1 mutation database-Reference-Cited by-同舟云学术

The COL7A1 mutation database

Published:2011-12-20 Issue:2 Volume:33 Page:327-331
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wertheim-Tysarowska Katarzyna,Sobczyńska-Tomaszewska Agnieszka,Kowalewski Cezary,Skroński Michał,Święćkowski Grzegorz,Kutkowska-Kaźmierczak Anna,Woźniak Katarzyna,Bal Jerzy

Funder

Unknown funding agency

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21651/fullpdf

Reference17 articles.

1. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa;Almaani;Acta Derm Venereol,2011

2. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa;Bruckner-Tuderman;Matrix Biol,1999

3. Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin;Chen;J Biol Chem,1997

4. Recommendations for locus-specific databases and their curation;Cotton;Hum Mutat,2008

5. Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases;Dallinger;Exp Dermatol,2003

Cited by 57 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. COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents;International Journal of Molecular Sciences;2023-02-22

2. Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa;Experimental and Therapeutic Medicine;2022-10-21

3. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa;Molecular Genetics & Genomic Medicine;2022-02-28

4. Somatic mutations in collagens are associated with a distinct tumor environment and overall survival in gastric cancer;BMC Cancer;2022-02-04

5. Application of topical gentamicin—a new era in the treatment of genodermatosis;World Journal of Pediatrics;2021-11-17