Pathogenic variant in ACTL7A causes severe teratozoospermia characterized by bubble-shaped acrosomes and male infertility.

Dai, Jing; Chen, Yongzhe; Li, Qi; Zhang, Tianlei; Zhou, Qinwei; Gong, Fei; Lu, Guangxiu; Zheng, Wei; Lin, Ge

Dai, Jing; Chen, Yongzhe; Li, Qi; Zhang, Tianlei; Zhou, Qinwei; Gong, Fei; Lu, Guangxiu; Zheng, Wei; Lin, Ge.

Afiliación

Dai J; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Chen Y; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
Li Q; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, China.
Zhang T; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Zhou Q; Xiangya Hospital Central South University, Changsha, China.
Gong F; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
Lu G; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, China.
Zheng W; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
Lin G; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, China.

Mol Hum Reprod ; 28(8)2022 07 29.

Article en En | MEDLINE | ID: mdl-35863052

Asunto(s)

Infertilidad Masculina; Teratozoospermia; Acrosoma/metabolismo; Animales; Humanos; Infertilidad Masculina/patología; Masculino; Ratones; Semen; Espermatozoides/metabolismo; Teratozoospermia/genética; Teratozoospermia/metabolismo; Teratozoospermia/patología

Palabras clave

ACTL7A; PLCÎ¶; actin-like 7A; actin-like protein; bubble-shaped acrosome; fertilization failure; polymorphism

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Teratozoospermia / Infertilidad Masculina Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Humans / Male Idioma: En Revista: Mol Hum Reprod Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA REPRODUTIVA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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