Literature DB >> 18627047

SOX10 mutation in Waardenburg syndrome type II.

Manami Iso1, Maki Fukami, Reiko Horikawa, Noriyuki Azuma, Nobuko Kawashiro, Tsutomu Ogata.   

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Year:  2008        PMID： 18627047     DOI： 10.1002/ajmg.a.32403

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

Review 1.  Sox proteins in melanocyte development and melanoma.

Authors:  Melissa L Harris; Laura L Baxter; Stacie K Loftus; William J Pavan
Journal:  Pigment Cell Melanoma Res       Date:  2010-04-22       Impact factor: 4.693

2.  Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

Authors:  Hua Zhang; Hongsheng Chen; Hunjin Luo; Jing An; Lin Sun; Lingyun Mei; Chufeng He; Lu Jiang; Wen Jiang; Kun Xia; Jia-Da Li; Yong Feng
Journal:  Hum Genet       Date:  2011-10-01       Impact factor: 4.132

3.  Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.

Authors:  Yoko Izumi; Ikuma Musha; Erina Suzuki; Manami Iso; Tomoko Jinno; Reiko Horikawa; Shin Amemiya; Tsutomu Ogata; Maki Fukami; Akira Ohtake
Journal:  Endocrine       Date:  2014-10-02       Impact factor: 3.633

4.  A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

Authors:  Yunfang Shi; Xiaozhou Li; Duan Ju; Yan Li; Xiuling Zhang; Ying Zhang
Journal:  Exp Ther Med       Date:  2016-02-01       Impact factor: 2.447

5.  A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.

Authors:  Ying Li; Yajuan Xu; Genxia Li; Kang Chen; Haiyang Yu; Jinshuang Gao; Weifang Tian; Yuehua Liu; Pingping Liu; Linlin Zhang; Zhan Zhang
Journal:  Mol Syndromol       Date:  2021-06-14

6.  Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.

Authors:  Xiaoyu Yu; Yun Lin; Hao Wu
Journal:  Neural Plast       Date:  2020-08-28       Impact factor: 3.599

Review 7.  Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development.

Authors:  Elizabeth N Schock; Carole LaBonne
Journal:  Front Physiol       Date:  2020-12-08       Impact factor: 4.566

8.  Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Authors:  Maan Abdullah Albarry; Muhammad Latif; Ahdab Qasem Alreheli; Mohammed A Awadh; Ahmad M Almatrafi; Alia M Albalawi; Sulman Basit
Journal:  PLoS One       Date:  2021-02-11       Impact factor: 3.240

9.  A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.

Authors:  Tetsuji Wakabayashi; Akihito Takei; Nobukazu Okada; Miki Shinohara; Manabu Takahashi; Shuichi Nagashima; Kenta Okada; Ken Ebihara; Shun Ishibashi
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2021-04-01
  9 in total

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