Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations-Reference-Cited by-同舟云学术

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Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations

Published:2018-03-12 Issue:5 Volume:63 Page:639-646
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Wang Xue-Ping,Liu Ya-Lan,Mei Ling-Yun,He Chu-Feng,Niu Zhi-Jie,Sun Jie,Zhao Yu-lin,Feng Yong,Zhang Hua

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0425-z.pdf

Reference39 articles.

1. Touraine RL, Attie-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet. 2000;66:1496–503.

2. Jiang L, Chen H, Jiang W, Hu Z, Mei L, Xue J, et al. Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome. Biochem Biophys Res Commun. 2011;408:620–4.

3. Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol. 1998;7:17–20.

4. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010;31:391–406.

5. Ogawa Y, Kono M, Akiyama M. Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation. Pigment Cell Melanoma Res. 2017;30:501–4.

Cited by 15 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. Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes;BMC Genomics;2024-07-24

2. Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS‐derived melanocytes;Pigment Cell & Melanoma Research;2023-08-09

3. Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing;Functional & Integrative Genomics;2023-03-31

4. Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing;Molecular Genetics & Genomic Medicine;2022-11-04

5. PPP6C, a serine-threonine phosphatase, regulates melanocyte differentiation and contributes to melanoma tumorigenesis through modulation of MITF activity;Scientific Reports;2022-04-02

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