Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

Riera-Escamilla A.; Enguita-Marruedo A.; Moreno-Mendoza D.; Chianese C.; Sleddens-Linkels E.; Contini E.; Benelli M.; Natali A.; Colpi G. M.; Ruiz-Castane E.; Maggi M.; Baarends W. M.; Krausz C.

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Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

机译：血吸虫男性“小鼠偶氮孢子蛋白”基因面板的测序：RNF212和STAG3突变的鉴定作为减数病的新遗传原因

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STUDY QUESTION: What is the diagnostic potential of next generation sequencing (NGS) based on a 'mouse azoospermia' gene panel in human non-obstructive azoospermia (NOA)?

机译：研究问题：基于“小鼠Azoospermia”基因面板的下一代测序（NGS）的诊断潜力是基于人的非阻塞性Azoospermia（NOA）？

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来源
《Human Reproduction》 |2019年第6期|共11页
作者
Riera-Escamilla A.; Enguita-Marruedo A.; Moreno-Mendoza D.; Chianese C.; Sleddens-Linkels E.; Contini E.; Benelli M.; Natali A.; Colpi G. M.; Ruiz-Castane E.; Maggi M.; Baarends W. M.; Krausz C.;
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作者单位

Univ Autonoma Barcelona Inst Invest Biomed St Pau IIB St Pau Fundacio Puigvert Androl Dept;

Erasmus MC Univ Dept Dev Biol Med Ctr NL-3015 GD Rotterdam Netherlands;

Univ Autonoma Barcelona Inst Invest Biomed St Pau IIB St Pau Fundacio Puigvert Androl Dept;

Univ Florence Dept Expt &

Clin Biomed Sci Mario Serio Ctr Excellence DeNothe I-50139 Florence;

Erasmus MC Univ Dept Dev Biol Med Ctr NL-3015 GD Rotterdam Netherlands;

Univ Florence Dept Expt &

Clin Med Ctr Res &

Innovat Myeloproliferat Neoplasms CRIMM AOU Careggi;

Hosp Prato Bioinformat Unit I-59100 Prato Italy;

Univ Florence Careggi Hosp Dept Urol I-50139 Florence Italy;

San Carlo Clin Dept Androl &

IVF I-20037 Paderno Dugnano Milano Italy;

Univ Autonoma Barcelona Inst Invest Biomed St Pau IIB St Pau Fundacio Puigvert Androl Dept;

Univ Florence Dept Expt &

Clin Biomed Sci Mario Serio Ctr Excellence DeNothe I-50139 Florence;

Erasmus MC Univ Dept Dev Biol Med Ctr NL-3015 GD Rotterdam Netherlands;

Univ Autonoma Barcelona Inst Invest Biomed St Pau IIB St Pau Fundacio Puigvert Androl Dept;

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原文格式 PDF
正文语种 eng
中图分类人体生理学;
关键词
genetics; male infertility; azoospermia; spermatogenesis; gene mutations;

机译：遗传学;男性不孕症;厌氧植物;精子发生;基因突变;

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专利

1. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest [J] . Riera-Escamilla A., Enguita-Marruedo A., Moreno-Mendoza D., Human Reproduction . 2019,第6期

机译：血吸虫男性“小鼠偶氮孢子蛋白”基因面板的测序：RNF212和STAG3突变的鉴定作为减数病的新遗传原因
2. An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility [J] . Yasuhiro Fujiwara, Hirokazu Matsumoto, Kouyou Akiyama, Reviews of Reproduction . 2015,第1期

机译：ENU诱导的小鼠Rnf212基因突变与男性减数分裂失败和不育症相关
3. An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility [J] . Yasuhiro Fujiwara, Hirokazu Matsumoto, Kouyou Akiyama, Reproduction: The official journal of the Society for the Study of Fertility . 2015,第1期

机译：ENU诱导的小鼠Rnf212基因突变与男性减数分裂失败和不育症相关
4. MULTISITE MULTIMODAL MASS SPECTROMETRY IMAGING OF GENETICALLY ENGINEERED MOUSE MODELS CONTAINING MUTATIONS LINKED TO BOWEL CANCER [C] . Chelsea J. Nikula, Rory T. Steven, Efstathios Elia, International Mass Spectrometry Conference . 2018

机译：含有肠癌突变的遗传工程小鼠模型的多态多峰质谱成像
5. A systems genetics approach to the identification of causal genes in heart failure using a large mouse panel. [D] . Rau, Christoph Daniel. 2013

机译：一种系统遗传学方法，可使用大型小鼠面板鉴定心力衰竭中的致病基因。
6. Identification of morc (microrchidia) a mutation that results in arrest of spermatogenesis at an early meiotic stage in the mouse [O] . Mark L. Watson, Andrew R. Zinn, Norimitsu Inoue, 1998

机译：鉴定morc（微棘皮虫）该突变导致小鼠减数分裂早期精子发生停止
7. Corrigendum. Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest [O] . A Riera-Escamilla, A Enguita-Marruedo, D Moreno-Mendoza, 2020

机译：勘误。血吸虫男性“小鼠Azoospermia”基因面板的测序：鉴定RNF212和Stag3突变作为减数分裂的新遗传原因

Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

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