Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.

Li, Li; Yue, Jian-Fei; Kong, De-Qian; Sun, Miao-Miao; Li, Ke; Zheng, Guang-Ying

Li, Li; Yue, Jian-Fei; Kong, De-Qian; Sun, Miao-Miao; Li, Ke; Zheng, Guang-Ying.

Afiliação

Li L; Ophthalmologic Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China. redlily625@zzu.edu.cn.
Yue JF; Ophthalmologic Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Kong DQ; Ophthalmologic Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Sun MM; Ophthalmologic Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Li K; Ophthalmologic Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Zheng GY; Ophthalmologic Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China. zzzgy@zzu.edu.cn.

Mol Genet Genomics ; 298(2): 495-506, 2023 Mar.

Article em En | MEDLINE | ID: mdl-36719481

Assuntos

Catarata; Cristalinas; Criança; Humanos; Apoptose/genética; Catarata/genética; Catarata/congênito; Catarata/diagnóstico; Cristalinas/genética; Mutação; Linhagem

Palavras-chave

Cell apoptosis; Congenital cataract; Gene mutation; Reactive oxygen species; c-MAF

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Catarata / Cristalinas Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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