PLACK syndrome resulting from a new homozygous insertion mutation in CAST-Reference-Cited by-同舟云学术

PLACK syndrome resulting from a new homozygous insertion mutation in CAST

Published:2017-11 Issue:2 Volume:88 Page:256-258
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Alkhalifah Azzam,Chiaverini Christine,Del Giudice Pascal,Supsrisunjai Chavalit,Hsu Chao-Kai,Liu Lu,Charlesworth Alexandra,McGrath John A.,Lacour Jean-Philippe

Funder

National Institute for Health Research (NIHR) Biomedical Research Centre

St Thomas’ NHS Foundation Trust and King’s College London, UK

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference8 articles.

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2. Loss-of-function mutations in CAST cause peeling skinleukonychia, acral punctate keratoses, cheilitis, and knuckle pads;Lin;Am. J. Hum. Genet.,2015

3. Role of calpain in pathogenesis of human disease processes;Potz;J. Nat. Sci.,2016

4. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J. Am. Acad. Dermatol.,2014

5. The calpain system;Goll;Physiol. Rev.,2003

Cited by 11 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. Novel nonsense CAST mutation in two siblings with PLACK syndrome;International Journal of Dermatology;2023-06-30

2. A patient with PLACK syndrome with a novel splicing mutation in CAST: the evidence for a loss-of-function mechanism through mis-splicing;Clinical and Experimental Dermatology;2023-05-23

3. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene;Indian Journal of Dermatology, Venereology and Leprology;2023-05-03

4. Thermostable Proteins from HaCaT Keratinocytes Identify a Wide Breadth of Intrinsically Disordered Proteins and Candidates for Liquid–Liquid Phase Separation;International Journal of Molecular Sciences;2022-11-18

5. Leukonychia: What Can White Nails Tell Us?;American Journal of Clinical Dermatology;2022-02-02