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本文引用的文献

1
Chaperoning G protein-coupled receptors: from cell biology to therapeutics.陪伴G蛋白偶联受体：从细胞生物学到治疗学
Endocr Rev. 2014 Aug;35(4):602-47. doi: 10.1210/er.2013-1121. Epub 2014 Mar 24.
2
Transitioning pharmacoperones to therapeutic use: in vivo proof-of-principle and design of high throughput screens.将药物伴侣分子转化为治疗用途：体内原理验证及高通量筛选设计
Pharmacol Res. 2014 May;83:38-51. doi: 10.1016/j.phrs.2013.12.004. Epub 2013 Dec 25.
3
LHRH and LHR genotypes and prostate cancer incidence and survival.促黄体激素释放激素（LHRH）和促黄体激素受体（LHR）基因型与前列腺癌发病率及生存率
Int J Mol Epidemiol Genet. 2013 Nov 28;4(4):228-34. eCollection 2013.
4
Genetics of male infertility.男性不育的遗传学。
Urol Clin North Am. 2014 Feb;41(1):1-17. doi: 10.1016/j.ucl.2013.08.009. Epub 2013 Oct 23.
5
Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.影响受体运输和生殖功能的 G 蛋白偶联受体突变。
Mol Cell Endocrinol. 2014 Jan 25;382(1):411-423. doi: 10.1016/j.mce.2013.06.024. Epub 2013 Jun 24.
6
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.两家具有正常嗅觉先天性促性腺功能减退性性腺功能减退症和 KISS1R（KISS1 受体）双等位基因突变的患者：一种新突变的临床评估和分子特征。
PLoS One. 2013;8(1):e53896. doi: 10.1371/journal.pone.0053896. Epub 2013 Jan 18.
7
Regulatory processes governing the cell surface expression of LH and FSH receptors.调控促黄体生成素（LH）和促卵泡生成素（FSH）受体细胞表面表达的过程。
Subcell Biochem. 2012;63:113-29. doi: 10.1007/978-94-007-4765-4_7.
8
Mice harboring Gnrhr E90K, a mutation that causes protein misfolding and hypogonadotropic hypogonadism in humans, exhibit testis size reduction and ovulation failure.携带GnRHR E90K突变的小鼠表现出睾丸尺寸减小和排卵失败，该突变在人类中会导致蛋白质错误折叠和低促性腺激素性性腺功能减退。
Mol Endocrinol. 2012 Nov;26(11):1847-56. doi: 10.1210/me.2012-1072. Epub 2012 Aug 23.
9
Hypogonadism in a patient with two novel mutations of the luteinizing hormone β-subunit gene expressed in a compound heterozygous form.黄体生成素β亚单位基因突变的复合杂合形式导致患者出现低促性腺激素型性腺功能减退症。
J Clin Endocrinol Metab. 2012 Sep;97(9):3031-8. doi: 10.1210/jc.2012-1986. Epub 2012 Jun 21.
10
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.三兄弟因促性腺激素释放激素（GnRH）受体突变导致的先天性低促性腺激素性性腺功能减退揭示了影响构象和偶联的位点。
PLoS One. 2012;7(6):e38456. doi: 10.1371/journal.pone.0038456. Epub 2012 Jun 5.

"Been hit twice": a novel bi-allelic heterozygous mutation in LHCGR.

作者信息

Kumar T Rajendra

机构信息

Department of Molecular and Integrative Physiology, Department of Pathology and Laboratory Medicine, Center for Reproductive Sciences, Institute of Reproductive Health and Regenerative Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS, 66160, USA,

出版信息

J Assist Reprod Genet. 2014 Jul;31(7):783-6. doi: 10.1007/s10815-014-0284-2.

DOI:10.1007/s10815-014-0284-2
PMID:24974358
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4096889/
Abstract
摘要