Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa-Reference-Cited by-同舟云学术

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Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa

Published:2018-04 Issue:4 Volume:138 Page:987-991
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Chmel Nadja,Bornert Olivier,Hausser Ingrid,Grüninger Gabriele,Borozkin Wiktor,Kohlhase Jürgen,Nyström Alexander,Has Cristina

Funder

German Research Foundation

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference16 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. Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy;Bornert;Mol Ther,2016

3. RNA-based therapies for genodermatoses;Bornert;Exp Dermatol,2017

4. Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils;Brittingham;J Biol Chem,2005

5. Development and characterization of a recombinant truncated type VII collagen “minigene”. Implication for gene therapy of dystrophic epidermolysis bullosa;Chen;J Biol Chem,2000

Cited by 13 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. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16

2. Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders;BMC Medical Genomics;2023-08-21

3. Stairways to Advanced Therapies for Epidermolysis Bullosa;Cold Spring Harbor Perspectives in Biology;2022-09-27

4. Integrated Management Strategies for Epidermolysis Bullosa: Current Insights;International Journal of General Medicine;2022-05

5. Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease;Disease Models & Mechanisms;2021-06-01

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