• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.日本男性 SEPTIN12 基因中的单核苷酸多态性可能与减数分裂阻滞导致的无精子症有关。
J Assist Reprod Genet. 2012 Jan;29(1):47-51. doi: 10.1007/s10815-011-9679-5. Epub 2011 Nov 25.
2
Single-nucleotide polymorphisms in HORMAD1 may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients.HORMAD1 中的单核苷酸多态性可能是导致日本患者减数分裂阻滞性无精子症的一个风险因素。
Asian J Androl. 2012 Jul;14(4):580-3. doi: 10.1038/aja.2011.180. Epub 2012 Mar 12.
3
Single nucleotide polymorphism in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.UBR2 基因中的单核苷酸多态性可能是导致日本不育症患者减数分裂阻滞的遗传风险因素。
J Assist Reprod Genet. 2011 Aug;28(8):743-6. doi: 10.1007/s10815-011-9576-y. Epub 2011 May 4.
4
Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.SEPTIN12基因中的单核苷酸多态性可能是日本唯支持细胞综合征患者的遗传危险因素。
J Androl. 2012 May-Jun;33(3):483-7. doi: 10.2164/jandrol.110.012146. Epub 2011 Jun 2.
5
Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.PRDM9（MEISETZ）基因中的两个单核苷酸多态性可能是日本无精子症患者减数分裂停滞的遗传危险因素。
J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):553-7. doi: 10.1007/s10815-008-9270-x. Epub 2008 Oct 22.
6
LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest.LMTK2 和 PARP-2 基因多态性与减数分裂阻滞导致的无精子症。
J Assist Reprod Genet. 2009 Sep-Oct;26(9-10):545-52. doi: 10.1007/s10815-009-9347-1. Epub 2009 Oct 6.
7
Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome.人类RAD21L基因中的单核苷酸多态性可能是日本无精症患者因减数分裂阻滞和唯支持细胞综合征导致无精症的一个遗传风险因素。
Hum Fertil (Camb). 2017 Sep;20(3):217-220. doi: 10.1080/14647273.2017.1292004. Epub 2017 Feb 21.
8
Bi-allelic loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.双等位基因功能丧失突变导致减数分裂阻滞和非阻塞性无精子症。
J Med Genet. 2021 Oct;58(10):679-686. doi: 10.1136/jmedgenet-2020-107042. Epub 2020 Sep 8.
9
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.对无精子症男性的“小鼠无精子症”基因panel 进行测序：鉴定 RNF212 和 STAG3 突变作为减数分裂阻滞的新的遗传原因。
Hum Reprod. 2019 Jun 4;34(6):978-988. doi: 10.1093/humrep/dez042.
10
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.人类MEI1基因的多态性等位基因与减数分裂停滞导致的人类无精子症相关。
J Hum Genet. 2006;51(6):533-540. doi: 10.1007/s10038-006-0394-5. Epub 2006 May 9.

引用本文的文献

1
Molecular basis of the morphogenesis of sperm head and tail in mice.小鼠精子头部和尾部形态发生的分子基础。
Reprod Med Biol. 2022 May 23;21(1):e12466. doi: 10.1002/rmb2.12466. eCollection 2022 Jan-Dec.
2
Homozygous Loss of , but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure.的纯合缺失而非其单倍剂量不足会导致男性不育和受精失败。
Front Cell Dev Biol. 2022 Apr 25;10:850052. doi: 10.3389/fcell.2022.850052. eCollection 2022.
3
Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.SEPT12基因单核苷酸多态性c.673C>A/p.Gln225Lys与中国东北地区男性特发性不育症精子发生失败的相关性
J Int Med Res. 2019 Feb;47(2):992-998. doi: 10.1177/0300060518811770. Epub 2018 Nov 29.
4
New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men.SEPT12基因中的新单核苷酸多态性G5508A可能与伊朗男性特发性不育症有关。
Iran J Reprod Med. 2015 Aug;13(8):503-6.

本文引用的文献

1
Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.SEPTIN12基因中的单核苷酸多态性可能是日本唯支持细胞综合征患者的遗传危险因素。
J Androl. 2012 May-Jun;33(3):483-7. doi: 10.2164/jandrol.110.012146. Epub 2011 Jun 2.
2
SEPT12 deficiency causes sperm nucleus damage and developmental arrest of preimplantation embryos.SEPT12 缺失导致精子核损伤和着床前胚胎发育停滞。
Fertil Steril. 2011 Jan;95(1):363-5. doi: 10.1016/j.fertnstert.2010.07.1064.
3
BCL2 Ala43Thr is a functional variant associated with protection against azoospermia in a Han-Chinese population.BCL2 Ala43Thr 是一个功能性变异，与汉族人群中抗无精子症的保护有关。
Biol Reprod. 2010 Oct;83(4):656-62. doi: 10.1095/biolreprod.109.082339. Epub 2010 Jul 7.
4
The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility.内皮型一氧化氮合酶（eNOS）T-786C、G894T 和 4a/b 基因多态性与特发性男性不育症风险的关系。
Mol Reprod Dev. 2010 Aug;77(8):720-7. doi: 10.1002/mrd.21210.
5
The expression level of septin12 is critical for spermiogenesis.Septin12的表达水平对精子发生至关重要。
Am J Pathol. 2009 May;174(5):1857-68. doi: 10.2353/ajpath.2009.080955. Epub 2009 Apr 9.
6
SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells.SEPT12与SEPT6相互作用，这种相互作用改变了HeLa细胞中SEPT6的丝状结构。
J Biochem Mol Biol. 2007 Nov 30;40(6):973-8. doi: 10.5483/bmbrep.2007.40.6.973.
7
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.SPATA16基因的纯合突变与人类圆头精子症中的男性不育相关。
Am J Hum Genet. 2007 Oct;81(4):813-20. doi: 10.1086/521314. Epub 2007 Aug 21.
8
Uniform testicular maturation arrest: a unique subset of men with nonobstructive azoospermia.均匀性睾丸成熟停滞：非梗阻性无精子症男性的一个独特亚组。
J Urol. 2007 Aug;178(2):608-12; discussion 612. doi: 10.1016/j.juro.2007.03.125. Epub 2007 Jun 13.
9
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.AURKC基因的纯合突变会产生大头多倍体精子，并导致男性不育。
Nat Genet. 2007 May;39(5):661-5. doi: 10.1038/ng2027. Epub 2007 Apr 15.
10
Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue.通过睾丸组织的微阵列分析鉴定参与人类精子发生的十个新基因。
Fertil Steril. 2006 Dec;86(6):1650-8. doi: 10.1016/j.fertnstert.2006.04.039. Epub 2006 Oct 30.

日本男性 SEPTIN12 基因中的单核苷酸多态性可能与减数分裂阻滞导致的无精子症有关。

Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.

机构信息

Department of Obstetrics and Gynecology, Asahikawa Medical University, Midorigaokahigashi 2-1-1-1, Asahikawa, Hokkaido, 078-8510, Japan.

出版信息

J Assist Reprod Genet. 2012 Jan;29(1):47-51. doi: 10.1007/s10815-011-9679-5. Epub 2011 Nov 25.

DOI:10.1007/s10815-011-9679-5
PMID:22116646
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3252415/
Abstract

PURPOSE

To investigate the association between SEPTIN12 gene variants and the risk of azoospermia caused by meiotic arrest.

METHODS

Mutational analysis of the SEPTIN12 gene was performed using DNA from 30 Japanese patients with azoospermia by meiotic arrest and 140 fertile male controls.

RESULTS

The frequencies of the c.204G>C (Gln38His) allele and the CC genotype were significantly higher in patients than in fertile controls (p < 0.05).

CONCLUSION

The c.204G>C (Gln38His) variant in the SEPTIN12 gene was associated with increased susceptibility to azoospermia caused by meiotic arrest.

摘要

目的

探讨 SEPTIN12 基因突变与减数分裂阻滞所致非梗阻性无精子症的风险之间的关联。

方法

对 30 名减数分裂阻滞所致非梗阻性无精子症患者和 140 名正常生育男性的 DNA 进行 SEPTIN12 基因突变分析。

结果

患者中 c.204G>C（Gln38His）等位基因和 CC 基因型的频率明显高于正常生育对照组（p<0.05）。

结论

SEPTIN12 基因 c.204G>C（Gln38His）变异与减数分裂阻滞所致非梗阻性无精子症的易感性增加有关。