Literature DB >> 33431240

Strategies to Identify Genetic Variants Causing Infertility.

Xinbao Ding1, John C Schimenti2.   

Abstract

Genetic causes are thought to underlie about half of infertility cases, but understanding the genetic bases has been a major challenge. Modern genomics tools allow more sophisticated exploration of genetic causes of infertility through population, family-based, and individual studies. Nevertheless, potential therapies based on genetic diagnostics will be limited until there is certainty regarding the causality of genetic variants identified in an individual. Genome modulation and editing technologies have revolutionized our ability to functionally test such variants, and also provide a potential means for clinical correction of infertility variants. This review addresses strategies being used to identify causative variants of infertility.
Copyright © 2020 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  CRISPR/Cas9 genome editing; genome-wide association study; high-throughput sequencing; infertility; precision medicine; variants of uncertain significance

Mesh：

Year:  2021        PMID： 33431240      PMCID： PMC8263794          DOI： 10.1016/j.molmed.2020.12.008

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN： 1471-4914            Impact factor:   15.272


  107 in total

1.  Functional genetic screens for enhancer elements in the human genome using CRISPR-Cas9.

Authors:  Gozde Korkmaz; Rui Lopes; Alejandro P Ugalde; Ekaterina Nevedomskaya; Ruiqi Han; Ksenia Myacheva; Wilbert Zwart; Ran Elkon; Reuven Agami
Journal:  Nat Biotechnol       Date:  2016-01-11       Impact factor: 54.908

2.  A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.

Authors:  Zine-Eddine Kherraf; Amir Amiri-Yekta; Denis Dacheux; Thomas Karaouzène; Charles Coutton; Marie Christou-Kent; Guillaume Martinez; Nicolas Landrein; Pauline Le Tanno; Selima Fourati Ben Mustapha; Lazhar Halouani; Ouafi Marrakchi; Mounir Makni; Habib Latrous; Mahmoud Kharouf; Karin Pernet-Gallay; Hamid Gourabi; Derrick R Robinson; Serge Crouzy; Michael Blum; Nicolas Thierry-Mieg; Aminata Touré; Raoudha Zouari; Christophe Arnoult; Mélanie Bonhivers; Pierre F Ray
Journal:  Am J Hum Genet       Date:  2018-08-16       Impact factor: 11.025

3.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

4.  Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.

Authors:  Sylvie Jaillard; Rajini Sreenivasan; Marion Beaumont; Gorjana Robevska; Christèle Dubourg; Ingrid M Knarston; Linda Akloul; Jocelyn van den Bergen; Sylvie Odent; Brittany Croft; Guilhem Jouve; Sonia R Grover; Solène Duros; Céline Pimentel; Marc-Antoine Belaud-Rotureau; Katie L Ayers; Célia Ravel; Elena J Tucker; Andrew H Sinclair
Journal:  Maturitas       Date:  2019-11-09       Impact factor: 4.342

5.  Efficient mouse genome engineering by CRISPR-EZ technology.

Authors:  Andrew J Modzelewski; Sean Chen; Brandon J Willis; K C Kent Lloyd; Joshua A Wood; Lin He
Journal:  Nat Protoc       Date:  2018-05-10       Impact factor: 13.491

6.  Point-of-care whole-exome sequencing of idiopathic male infertility.

Authors:  Khalid A Fakhro; Haitham Elbardisi; Mohamed Arafa; Amal Robay; Juan L Rodriguez-Flores; Alya Al-Shakaki; Najeeb Syed; Jason G Mezey; Charbel Abi Khalil; Joel A Malek; Abdulla Al-Ansari; Sami Al Said; Ronald G Crystal
Journal:  Genet Med       Date:  2018-04-12       Impact factor: 8.822

7.  Human GV oocytes generated by mitotically active germ cells obtained from follicular aspirates.

Authors:  Xinbao Ding; Guishu Liu; Bo Xu; Changqing Wu; Ning Hui; Xin Ni; Jian Wang; Meirong Du; Xiaoming Teng; Ji Wu
Journal:  Sci Rep       Date:  2016-06-30       Impact factor: 4.379

8.  BRCA2 deficiency is a potential driver for human primary ovarian insufficiency.

Authors:  Yilong Miao; Pan Wang; Bingteng Xie; Mo Yang; Sen Li; Zhaokang Cui; Yong Fan; Mo Li; Bo Xiong
Journal:  Cell Death Dis       Date:  2019-06-17       Impact factor: 8.469

9.  A genome-wide association study of early menopause and the combined impact of identified variants.

Authors:  John R B Perry; Tanguy Corre; Tõnu Esko; Daniel I Chasman; Krista Fischer; Nora Franceschini; Chunyan He; Zoltan Kutalik; Massimo Mangino; Lynda M Rose; Albert Vernon Smith; Lisette Stolk; Patrick Sulem; Michael N Weedon; Wei V Zhuang; Alice Arnold; Alan Ashworth; Sven Bergmann; Julie E Buring; Andrea Burri; Constance Chen; Marilyn C Cornelis; David J Couper; Mark O Goodarzi; Vilmundur Gudnason; Tamara Harris; Albert Hofman; Michael Jones; Peter Kraft; Lenore Launer; Joop S E Laven; Guo Li; Barbara McKnight; Corrado Masciullo; Lili Milani; Nicholas Orr; Bruce M Psaty; Paul M Ridker; Fernando Rivadeneira; Cinzia Sala; Andres Salumets; Minouk Schoemaker; Michela Traglia; Gérard Waeber; Stephen J Chanock; Ellen W Demerath; Melissa Garcia; Susan E Hankinson; Frank B Hu; David J Hunter; Kathryn L Lunetta; Andres Metspalu; Grant W Montgomery; Joanne M Murabito; Anne B Newman; Ken K Ong; Tim D Spector; Kari Stefansson; Anthony J Swerdlow; Unnur Thorsteinsdottir; Rob M Van Dam; André G Uitterlinden; Jenny A Visser; Peter Vollenweider; Daniela Toniolo; Anna Murray
Journal:  Hum Mol Genet       Date:  2013-01-09       Impact factor: 6.150

Review 10.  A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.

Authors:  Brendan J Houston; Donald F Conrad; Moira K O'Bryan
Journal:  Hum Genet       Date:  2020-04-04       Impact factor: 5.881
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