Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction-Reference-Cited by-同舟云学术

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Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

Published:2018-06-08 Issue:1 Volume:5 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Hayashi Shion,Yokoi Takayuki,Hatano Chihiro,Enomoto Yumi,Tsurusaki Yoshinori,Naruto Takuya,Kobayashi Masahisa,Ida Hiroyuki,Kurosawa Kenji

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-018-0011-0.pdf

Reference10 articles.

1. Visinoni, A. F., Lisboa-Costa, T., Pagnan, N. A. & Chautard-Freire-Maia, E. A. Ectodermal dysplasias: clinical and molecular review. Am. J. Med Genet A 149A, 1980–2002 (2009).

2. Guo, G. et al. Ligand-independent EGFR signaling. Cancer Res 75, 3436–3441 (2015).

3. Schneider, M. R. & Wolf, E. The epidermal growth factor receptor ligands at a glance. J. Cell Physiol. 218, 460–466 (2009).

4. Campbell, P. et al. Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. J. Invest Dermatol. 134, 2570–2578 (2014).

5. Ganetzky, R. et al. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. Mol. Genet Genom. Med 3, 452–458 (2015).

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