Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS‐derived melanocytes

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成果类型：

期刊论文

作者：

Wen, Jie;Song, Jian;Chen, Jiale;Feng, Zhili;Jing, Qiancheng;...

通讯作者：

Feng, Y;Ma, Lu

作者机构：

[Feng, Yong; Kang, Xiaoming; Gong, Wei; Jing, Qiancheng; Feng, Zhili; Wen, Jie] Univ South China, Affiliated Changsha Cent Hosp, Hengyang Med Sch, Dept Otorhinolaryngol, Changsha, Peoples R China.

[Feng, Yong; Ma, Lu; Kang, Xiaoming; Gong, Wei; Jing, Qiancheng; Feng, Zhili; Wen, Jie] Univ South China, Inst Otorhinolaryngol Head & Neck Surg, Changsha, Peoples R China.

[Mei, Lingyun; Song, Jian; He, Chufeng] Cent South Univ, Dept Otorhinolaryngol, Xiangya Hosp, Changsha, Peoples R China.

[Feng, Yong; Mei, Lingyun; Song, Jian; He, Chufeng] Prov Key Lab Otolaryngol Crit Dis, Changsha, Peoples R China.

[Chen, Jiale] Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha, Peoples R China.

通讯机构：

[Ma, L; Feng, Y ]

Univ South China, Affiliated Changsha Cent Hosp, Hengyang Med Sch, Dept Otorhinolaryngol, Changsha, Peoples R China.

Univ South China, Inst Otorhinolaryngol Head & Neck Surg, Changsha, Peoples R China.

语种：

英文

关键词：

induced pluripotent stem cells;melanocytes;microphthalmia-associated transcription factor;neural crest cells;RNA-seq;Waardenburg syndrome

期刊：

Pigment Cell & Melanoma Research

ISSN：

1755-1471

年：

2024

卷：

期：

页码：

21-35

DOI：

10.1111/pcmr.13118

基金类别：

National Natural Science Foundation of China [81700923, 81873705, 82071065, 82271187, 82201304]; Major State Basic Research Development Program of China (973 Program) [2014CB541702]; Hunan Province Natural Science Foundation [C2019188]; Science and Technology Innovation Program of Hunan Province China [2020RC2013]; National Key Research and Development Program of China [2020YFC2005204]; Hunan Provincial Key Research and Development Program [2020SK2106]; University of South China [201RGC002]; University of South China Clinical Research 4310 Program; Major State Basic Research Development Program of China [2014CB541702]; Natural Science Foundation of Hunan Province [C2019188]; University of South~China; University of South China Clinical Research 4310 Program [201RGC002]

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本校为第一且通讯机构

摘要：

Waardenburg Syndrome (WS) is a rare genetic disorder that leads to congenital hearing loss and pigmentation defects. Microphthalmia-associated transcription factor (MITF) is one of its significant pathogenic genes. Despite the comprehensive investigation in animal models, the pathogenic mechanism is still poorly described in humans due to difficulties accessing embryonic tissues. In this work, we used induced pluripotent stem cells derived from a WS patient carrying a heterozygous mutation in the MITF gene c.626A>T (p.His209Leu), and differentiated toward melanocyte lineage, which is the most ...

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Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS‐derived melanocytes

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