Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis-Reference-Cited by-同舟云学术

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis

Published:2017-03-11 Issue:6 Volume:44 Page:e109-e110
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Honda Aki¹,Umegaki-Arao Noriko¹,Sasaki Takashi¹²,Nakabayashi Kazuhiko³,Hata Kenichiro³,Matsubara Yoichi⁴,Tanikawa Akiko¹,Amagai Masayuki¹,Kubo Akiharu¹^ORCID

Affiliation:

1. Department of Dermatology; Keio University School of Medicine; Tokyo Japan

2. Center for Supercentenarian Research; Keio University School of Medicine; Tokyo Japan

3. Department of Maternal-Fetal Biology; National Research Institute for Child Health and Development; Tokyo Japan

4. National Research Institute for Child Health and Development; Tokyo Japan

Funder

Practical Research Project for Rare/Intractable Diseases

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.13801/fullpdf

Reference5 articles.

1. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat Genet,2005

2. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development;Siegel;Br J Dermatol,2012

3. HRAS mutation mosaicism causing urothelial cancer and epidermal nevus;Hafner;N Engl J Med,2011

4. Somatic HRAS p. G12S mutation causes woolly hair and epidermal nevi;Levinsohn;J Invest Dermatol,2014

5. Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome;Sun;J Invest Dermatol,2013

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1. Somatische HRAS p.G12S‐Mutation verursacht Mosaik‐Costello‐Syndrom mit speziellen Hautmanifestationen;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-09

2. Somatic HRAS p.G12S mutation causes mosaic Costello syndrome with special cutaneous manifestations;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-08-20

3. Topical everolimus therapy for epidermal nevi associated with woolly hair nevus in a patient with a mosaic HRAS mutation;Pediatric Dermatology;2024-04

4. HRAS mosaicism in linear palmoplantar keratoderma;Journal of the European Academy of Dermatology and Venereology;2023-11-10

5. Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation;Frontiers in Genetics;2023-08-10