Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

Multiple morphological abnormalities of the sperm flagella (MMAF) is a cause of male infertility. Here the authors identify homozygous nonsense mutations of the glutamine rich 2 (QRICH2) gene in two MMAF patients from 2 consanguineous families and show using QRICH2 knockout mice that the protein is...

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Autores principales:	Ying Shen, Feng Zhang, Fuping Li, Xiaohui Jiang, Yihong Yang, Xiaoliang Li, Weiyu Li, Xiang Wang, Juan Cheng, Mohan Liu, Xueguang Zhang, Guiping Yuan, Xue Pei, Kailai Cai, Fengyun Hu, Jianfeng Sun, Lanzhen Yan, Li Tang, Chuan Jiang, Wenling Tu, Jinyan Xu, Haojuan Wu, Weiqi Kong, Shuying Li, Ke Wang, Kai Sheng, Xudong Zhao, Huanxun Yue, Xiaoyu Yang, Wenming Xu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/7f434c531ab1482fa370de4f562ac05c
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spelling	oai:doaj.org-article:7f434c531ab1482fa370de4f562ac05c2021-12-02T16:58:25ZLoss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella10.1038/s41467-018-08182-x2041-1723https://doaj.org/article/7f434c531ab1482fa370de4f562ac05c2019-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-08182-xhttps://doaj.org/toc/2041-1723Multiple morphological abnormalities of the sperm flagella (MMAF) is a cause of male infertility. Here the authors identify homozygous nonsense mutations of the glutamine rich 2 (QRICH2) gene in two MMAF patients from 2 consanguineous families and show using QRICH2 knockout mice that the protein is required for sperm flagellar formation and motility.Ying ShenFeng ZhangFuping LiXiaohui JiangYihong YangXiaoliang LiWeiyu LiXiang WangJuan ChengMohan LiuXueguang ZhangGuiping YuanXue PeiKailai CaiFengyun HuJianfeng SunLanzhen YanLi TangChuan JiangWenling TuJinyan XuHaojuan WuWeiqi KongShuying LiKe WangKai ShengXudong ZhaoHuanxun YueXiaoyu YangWenming XuNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Ying Shen Feng Zhang Fuping Li Xiaohui Jiang Yihong Yang Xiaoliang Li Weiyu Li Xiang Wang Juan Cheng Mohan Liu Xueguang Zhang Guiping Yuan Xue Pei Kailai Cai Fengyun Hu Jianfeng Sun Lanzhen Yan Li Tang Chuan Jiang Wenling Tu Jinyan Xu Haojuan Wu Weiqi Kong Shuying Li Ke Wang Kai Sheng Xudong Zhao Huanxun Yue Xiaoyu Yang Wenming Xu Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
description	Multiple morphological abnormalities of the sperm flagella (MMAF) is a cause of male infertility. Here the authors identify homozygous nonsense mutations of the glutamine rich 2 (QRICH2) gene in two MMAF patients from 2 consanguineous families and show using QRICH2 knockout mice that the protein is required for sperm flagellar formation and motility.
format	article
author	Ying Shen Feng Zhang Fuping Li Xiaohui Jiang Yihong Yang Xiaoliang Li Weiyu Li Xiang Wang Juan Cheng Mohan Liu Xueguang Zhang Guiping Yuan Xue Pei Kailai Cai Fengyun Hu Jianfeng Sun Lanzhen Yan Li Tang Chuan Jiang Wenling Tu Jinyan Xu Haojuan Wu Weiqi Kong Shuying Li Ke Wang Kai Sheng Xudong Zhao Huanxun Yue Xiaoyu Yang Wenming Xu
author_facet	Ying Shen Feng Zhang Fuping Li Xiaohui Jiang Yihong Yang Xiaoliang Li Weiyu Li Xiang Wang Juan Cheng Mohan Liu Xueguang Zhang Guiping Yuan Xue Pei Kailai Cai Fengyun Hu Jianfeng Sun Lanzhen Yan Li Tang Chuan Jiang Wenling Tu Jinyan Xu Haojuan Wu Weiqi Kong Shuying Li Ke Wang Kai Sheng Xudong Zhao Huanxun Yue Xiaoyu Yang Wenming Xu
author_sort	Ying Shen
title	Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
title_short	Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
title_full	Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
title_fullStr	Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
title_full_unstemmed	Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
title_sort	loss-of-function mutations in qrich2 cause male infertility with multiple morphological abnormalities of the sperm flagella
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/7f434c531ab1482fa370de4f562ac05c
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Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

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