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Ann N Y Acad Sci. 2010 Dec;1214:E1-E17. doi: 10.1111/j.1749-6632.2010.05917.x.
2
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4
[Genetics of male sterility].[雄性不育的遗传学]
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7
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S100a9 might act as a modulator of the Toll-like receptor 4 transduction pathway in chronic rhinosinusitis with nasal polyps.S100a9 可能在伴有鼻息肉的慢性鼻-鼻窦炎的 Toll 样受体 4 转导通路中作为一种调节剂。
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Neuroplastin Expression in Male Mice Is Essential for Fertility, Mating, and Adult Testosterone Levels.神经纤层蛋白在雄性小鼠中的表达对于生育能力、交配和成年期睾酮水平至关重要。
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Etiology of Male Infertility: an Update.男性不育症的病因学:最新进展。
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Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.拷贝数变异(CNVs)和核型分析在无精子症和少精子症男性中的应用。
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Transcriptomic signatures for human male infertility.人类男性不育的转录组特征
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Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR):  Molecular Cytogenetic Analysis.两兄弟均不育(无精子症和严重少精子症)——携带 t(1;7) 复杂染色体重排(CCR):分子细胞遗传学分析。
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本文引用的文献

1
Mutations in the protamine locus: association with spermatogenic failure?精蛋白基因座突变:与精子发生失败有关?
Mol Hum Reprod. 2009 Nov;15(11):733-8. doi: 10.1093/molehr/gap056. Epub 2009 Jul 14.
2
Genetics of human male infertility.人类男性不育症的遗传学
Singapore Med J. 2009 Apr;50(4):336-47.
3
Human male infertility caused by mutations in the CATSPER1 channel protein.由阳离子通道精子相关蛋白1(CATSPER1)通道蛋白突变引起的男性不育症。
Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2.
4
The neurokinin B pathway in human reproduction.人类生殖中的神经激肽B通路。
Nat Genet. 2009 Mar;41(3):269-70. doi: 10.1038/ng0309-269.
5
The biology of infertility: research advances and clinical challenges.不孕症生物学:研究进展与临床挑战
Nat Med. 2008 Nov;14(11):1197-213. doi: 10.1038/nm.f.1895. Epub 2008 Nov 6.
6
Tektin 3 is required for progressive sperm motility in mice.Tektin 3对小鼠精子的渐进性运动是必需的。
Mol Reprod Dev. 2009 May;76(5):453-9. doi: 10.1002/mrd.20957.
7
USP26 gene variations in fertile and infertile men.可育和不育男性的USP26基因变异
Hum Reprod. 2009 Feb;24(2):477-84. doi: 10.1093/humrep/den374. Epub 2008 Oct 16.
8
Testicular histology in boys with Prader-Willi syndrome: fertile or infertile?普拉德-威利综合征男孩的睾丸组织学:生育能力如何?
J Urol. 2008 Oct;180(4 Suppl):1800-4. doi: 10.1016/j.juro.2008.03.113. Epub 2008 Aug 21.
9
Androgen insensitivity syndrome: clinical features and molecular defects.雄激素不敏感综合征:临床特征与分子缺陷
Hormones (Athens). 2008 Jul-Sep;7(3):217-29. doi: 10.14310/horm.2002.1201.
10
FSHB promoter polymorphism within evolutionary conserved element is associated with serum FSH level in men.进化保守元件内的卵泡刺激素β亚基基因启动子多态性与男性血清卵泡刺激素水平相关。
Hum Reprod. 2008 Sep;23(9):2160-6. doi: 10.1093/humrep/den216. Epub 2008 Jun 21.

男性不育的孟德尔遗传学。

Mendelian genetics of male infertility.

机构信息

Scott Department of Urology, Baylor College of Medicine, Houston, TX, USA.

出版信息

Ann N Y Acad Sci. 2010 Dec;1214:E1-E17. doi: 10.1111/j.1749-6632.2010.05917.x.

DOI:10.1111/j.1749-6632.2010.05917.x
PMID:21382200
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3654696/
Abstract

Infertility is defined as the inability of a couple to conceive despite trying for a year, and it affects approximately 15% of the reproductive-age population. It is considered a genetically lethal factor, as the family lineage stops at that individual with no progeny produced. A genetic defect associated with an infertile individual cannot be transmitted to the offspring, ensuring the maintenance of reproductive fitness of the species. However, with the advent of assisted reproductive techniques (ART), we are now able to overcome sterility and bypass nature's protective mechanisms that developed through evolution to prevent fertilization by defective or deficient sperm.

摘要

不孕不育定义为夫妻双方在尝试怀孕一年后仍无法受孕,约影响 15%的育龄人群。它被认为是一种遗传致死因素,因为家族血脉在该个体处终止,没有后代产生。与不孕个体相关的遗传缺陷不会传递给后代,从而确保了物种生殖适应性的维持。然而,随着辅助生殖技术(ART)的出现,我们现在能够克服不育症,并绕过自然进化过程中为防止缺陷或不足精子受精而发展起来的保护机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9fdf/3654696/691606ea4de8/nihms458794f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9fdf/3654696/691606ea4de8/nihms458794f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9fdf/3654696/691606ea4de8/nihms458794f1.jpg