Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility

Many molecular and physiological mechanisms in the regulation of fertility are shared between female and male mammals. Here, Lee et al. report an association of CNVs in CSMD1 with early idiopathic menopause in women and show that loss of Csmd1 leads to gonadal dysfunction in both male and female mic...

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Autores principales:	Arthur S. Lee, Jannette Rusch, Ana C. Lima, Abul Usmani, Ni Huang, Maarja Lepamets, Katinka A. Vigh-Conrad, Ronald E. Worthington, Reedik Mägi, Xiaobo Wu, Kenneth I. Aston, John P. Atkinson, Douglas T. Carrell, Rex A. Hess, Moira K. O’Bryan, Donald F. Conrad
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/60cd321fd0b3463ab76d53b0cfcb3f9d
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spelling	oai:doaj.org-article:60cd321fd0b3463ab76d53b0cfcb3f9d2021-12-02T14:35:30ZRare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility10.1038/s41467-019-12522-w2041-1723https://doaj.org/article/60cd321fd0b3463ab76d53b0cfcb3f9d2019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12522-whttps://doaj.org/toc/2041-1723Many molecular and physiological mechanisms in the regulation of fertility are shared between female and male mammals. Here, Lee et al. report an association of CNVs in CSMD1 with early idiopathic menopause in women and show that loss of Csmd1 leads to gonadal dysfunction in both male and female mice.Arthur S. LeeJannette RuschAna C. LimaAbul UsmaniNi HuangMaarja LepametsKatinka A. Vigh-ConradRonald E. WorthingtonReedik MägiXiaobo WuKenneth I. AstonJohn P. AtkinsonDouglas T. CarrellRex A. HessMoira K. O’BryanDonald F. ConradNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Arthur S. Lee Jannette Rusch Ana C. Lima Abul Usmani Ni Huang Maarja Lepamets Katinka A. Vigh-Conrad Ronald E. Worthington Reedik Mägi Xiaobo Wu Kenneth I. Aston John P. Atkinson Douglas T. Carrell Rex A. Hess Moira K. O’Bryan Donald F. Conrad Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
description	Many molecular and physiological mechanisms in the regulation of fertility are shared between female and male mammals. Here, Lee et al. report an association of CNVs in CSMD1 with early idiopathic menopause in women and show that loss of Csmd1 leads to gonadal dysfunction in both male and female mice.
format	article
author	Arthur S. Lee Jannette Rusch Ana C. Lima Abul Usmani Ni Huang Maarja Lepamets Katinka A. Vigh-Conrad Ronald E. Worthington Reedik Mägi Xiaobo Wu Kenneth I. Aston John P. Atkinson Douglas T. Carrell Rex A. Hess Moira K. O’Bryan Donald F. Conrad
author_facet	Arthur S. Lee Jannette Rusch Ana C. Lima Abul Usmani Ni Huang Maarja Lepamets Katinka A. Vigh-Conrad Ronald E. Worthington Reedik Mägi Xiaobo Wu Kenneth I. Aston John P. Atkinson Douglas T. Carrell Rex A. Hess Moira K. O’Bryan Donald F. Conrad
author_sort	Arthur S. Lee
title	Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
title_short	Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
title_full	Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
title_fullStr	Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
title_full_unstemmed	Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
title_sort	rare mutations in the complement regulatory gene csmd1 are associated with male and female infertility
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/60cd321fd0b3463ab76d53b0cfcb3f9d
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Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility

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