Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella-Reference-Cited by-同舟云学术

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Published:2018-08-13 Issue:10 Volume:33 Page:1973-1984
ISSN:0268-1161
Container-title:Human Reproduction
language:en
Short-container-title:

Author:

Martinez Guillaume¹²,Kherraf Zine-Eddine¹³,Zouari Raoudha⁴,Fourati Ben Mustapha Selima⁴,Saut Antoine¹²,Pernet-Gallay Karin⁵,Bertrand Anne⁵,Bidart Marie⁶,Hograindleur Jean Pascal¹,Amiri-Yekta Amir¹⁶⁷,Kharouf Mahmoud⁴,Karaouzène Thomas¹⁸,Thierry-Mieg Nicolas⁸,Dacheux-Deschamps Denis⁹¹⁰,Satre Véronique¹²,Bonhivers Mélanie⁹¹⁰,Touré Aminata¹¹¹²¹³,Arnoult Christophe¹,Ray Pierre F¹³^ORCID,Coutton Charles¹²

Affiliation:

1. University Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France

2. CHU Grenoble Alpes, UM de Génétique Chromosomique, Grenoble, France

3. CHU de Grenoble, UM GI-DPI, Grenoble, France

4. Clinique des Jasmins, 23, Av. Louis BRAILLE 1002 Belvedere, Tunis, Tunisia

5. Grenoble Neuroscience Institute, INSERM 1216, Grenoble, France

6. CHU Grenoble Alpes, UM de Biochimie Génétique et Moléculaire, Grenoble, France

7. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

8. University Grenoble Alpes/CNRS, TIMC-IMAG, Grenoble, France

9. Université de Bordeaux, Microbiologie Fondamentale et Pathogénicité, CNRS UMR, Bordeaux, France

10. Institut Polytechnique de Bordeaux, Microbiologie Fondamentale et Pathogénicité, UMR-CNRS 5234, Bordeaux, France

11. INSERM U1016, Institut Cochin, Paris, France

12. Centre National de la Recherche Scientifique UMR8104, Paris, France

13. Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France

Funder

French ANR and the DGOS

Fondation Maladies Rares

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynaecology,Rehabilitation,Reproductive Medicine

Link

http://academic.oup.com/humrep/article-pdf/33/10/1973/25808206/dey264.pdf

Reference58 articles.

1. An integrated map of genetic variation from 1,092 human genomes;1000 Genomes Project Consortium;Nature,2012

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations;Amiri-Yekta;Hum Reprod,2016

4. Another look at human sperm morphology;Auger;Hum Reprod,2016

5. Gene deletions in an infertile man with sperm fibrous sheath dysplasia;Baccetti;Hum Reprod,2005

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