Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan-Reference-Cited by-同舟云学术

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

Published:2017-06-06 Issue:1 Volume:177 Page:290-292
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Takeichi T.¹^ORCID,Tanahashi K.¹,Taki T.¹,Kono M.¹^ORCID,Sugiura K.²,Akiyama M.¹

Affiliation:

1. Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan

2. Department of Dermatology; Fujita Health University School of Medicine; Toyoake Japan

Funder

Japan Society for the Promotion of Science

Japan Intractable Diseases Research Foundation

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15070/fullpdf

Reference10 articles.

1. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH;Kazantseva;Science,2006

2. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth;Pasternack;Nat Genet,2008

3. Autosomal recessive hypotrichosis with woolly hair caused by a mutation in the keratin 25 gene expressed in hair follicles;Zernov;J Invest Dermatol,2016

4. Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations;Tanahashi;PLOS ONE,2014

5. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis;Shinkuma;Hum Mutat,2010

Cited by 7 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. Update of recent findings in genetic hair disorders;The Journal of Dermatology;2021-10-21

2. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies;Journal of the European Academy of Dermatology and Venereology;2021-06-04

3. Rabbit Genetic Resources Can Provide Several Animal Models to Explain at the Genetic Level the Diversity of Morphological and Physiological Relevant Traits;Applied Sciences;2021-01-02

4. Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis;The Journal of Dermatology;2020-09-09

5. Unusual Clinical Presentation of Autosomal Recessive Woolly Hair;Skin Appendage Disorders;2020