NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights-Reference-Cited by-同舟云学术

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights

Published:2023-11-03 Issue:1 Volume:41 Page:135-146
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Jordan Pénélope,Verebi Camille,Perol Sandrine,Grotto Sarah,Fouveaut Corinne,Christin-Maitre Sophie,de la Perrière Aude Brac,Grouthier Virginie,Jonard-Catteau Sophie,Touraine Philippe,PLU-Bureau Geneviève,Dupont Jean Michel,El Khattabi Laila,Bienvenu Thierry^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10815-023-02981-y.pdf

Reference19 articles.

1. Christin-Maitre S, Givony M, Albarel F, Bachelot A, Bidet M, Blanc JV, Bouvattier C, Brac de la Perrière A, Catteau-Jonard S, Chevalier N, Carel JC, Coutant R, Donadille B, Duranteau L, El-Khattabi L, Hugon-Rodin J, Houang M, Grynberg M, Kerlan V, Leger J, Misrahi M, Pienkowski C, Plu-Bureau G, Polak M, Reynaud R, Siffroi JP, Sonigo C, Touraine P, Zenaty D. Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome). Ann Endocrinol (Paris). 2021;82(6):555–71. https://doi.org/10.1016/j.ando.2021.09.001.

2. Bouilly J, Bachelot A, Broutin I, Touraine P, Binart N. Novel NOBOX loss-of- function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. Hum Mutat. 2011;32(10):1108–13. https://doi.org/10.1002/humu.21543.

3. Jiao X, Ke H, Qin Y, Chen ZJ. Molecular genetics of premature ovarian insufficiency. Trends Endocrinol Metab. 2018;29(11):795–807. https://doi.org/10.1016/j.tem.2018.07.002.

4. Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science. 2004;305(5687):1157–9. https://doi.org/10.1126/science.1099755.

5. Lechowska A, Bilinski S, Choi Y, Shin Y, Kloc M, Rajkovic A. Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdown. J Assist Reprod Genet. 2011;28(7):583–9. https://doi.org/10.1007/s10815-011-9553-5.

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