A novel compound heterozygous mutation of the luteinizing hormone receptor –implications for fertility-Reference-Cited by-同舟云学术

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A novel compound heterozygous mutation of the luteinizing hormone receptor –implications for fertility

Published:2014-05-22 Issue:7 Volume:31 Page:787-794
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Mitri Frederic,Bentov Yaakov,Behan Lucy Ann,Esfandiari Navid,Casper Robert F.

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1007/s10815-014-0249-5.pdf

Reference40 articles.

1. McGee EA, Hsueh AJ. Initial and cyclic recruitment of ovarian follicles. Endocr Rev. 2000;21:200–14.

2. Hsieh M, Lee D, Panigone S, et al. Luteinizing hormone-dependent activation of the epidermal growth factor network is essential for ovulation. Mol Cell Biol. 2007;27:1914–24.

3. Otsuka F, McTavish KJ, Shimasaki S. Integral role of GDF-9 and BMP-15 in ovarian function. Mol Reprod Dev. 2011;78:9–21.

4. Ascoli M, Fanelli F, Segaloff DL. The lutropin/choriogonadotropin receptor, a 2002 perspective. Endocr Rev. 2002;23:141–74.

5. Arnhold IJ, Lofrano-Porto A, Latronico AC. Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women. Horm Res. 2009;71:75–82.

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1. Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome;Journal of Obstetrics and Gynaecology Research;2023-07-18

2. Genetic variants of gonadotrophins and their receptors: Impact on the diagnosis and management of the infertile patient;Best Practice & Research Clinical Endocrinology & Metabolism;2021-11

3. Unconventional Actions of Glycoprotein Hormone Subunits: A Comprehensive Review;Frontiers in Endocrinology;2021-09-21

4. LHCGR and ALMS1 defects likely cooperate in the development of polycystic ovary syndrome indicated by double-mutant mice;Journal of Genetics and Genomics;2021-05

5. The Luteinizing Hormone Receptor Knockout Mouse as a Tool to Probe the In Vivo Actions of Gonadotropic Hormones/Receptors in Females;Endocrinology;2021-02-19

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