A pathogenic DMC1 frameshift mutation causes nonobstructive azoospermia but not primary ovarian insufficiency in humans.

Cao, Dandan; Shi, Fu; Guo, Chenxi; Liu, Ye; Lin, Zexiong; Zhang, Juanhui; Li, Raymond Hang Wun; Yao, Yuanqing; Liu, Kui; Ng, Ernest Hung Yu; Yeung, William Shu Biu; Wang, Tianren

Cao, Dandan; Shi, Fu; Guo, Chenxi; Liu, Ye; Lin, Zexiong; Zhang, Juanhui; Li, Raymond Hang Wun; Yao, Yuanqing; Liu, Kui; Ng, Ernest Hung Yu; Yeung, William Shu Biu; Wang, Tianren.

Afiliación

Cao D; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Shi F; Guangdong-Hong Kong Metabolism & Reproduction Joint Laboratory, Guangzhou, China.
Guo C; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Liu Y; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Lin Z; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Zhang J; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Li RHW; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Yao Y; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Liu K; Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Ng EHY; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Yeung WSB; Guangdong-Hong Kong Metabolism & Reproduction Joint Laboratory, Guangzhou, China.
Wang T; Shenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.

Mol Hum Reprod ; 27(9)2021 09 01.

Article en En | MEDLINE | ID: mdl-34515795

Asunto(s)

Azoospermia/genética; Proteínas de Ciclo Celular/genética; Proteínas de Unión al ADN/genética; Adulto; Animales; Células Cultivadas; China; Análisis Mutacional de ADN; Femenino; Mutación del Sistema de Lectura; Predisposición Genética a la Enfermedad; Humanos; Masculino; Ratones; Ratones Endogámicos C57BL; Ratones Noqueados; Linaje; Insuficiencia Ovárica Primaria/genética

Palabras clave

DNA meiotic Recombinase 1 (DMC1); diminished ovarian reserve; homozygous frameshift mutation; human study; mouse study; nonobstructive azoospermia; oogenesis; sexual dimorphism; spermatogenesis; whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Proteínas de Unión al ADN / Azoospermia Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Animals / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Mol Hum Reprod Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA REPRODUTIVA Año: 2021 Tipo del documento: Article País de afiliación: China

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