• 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

Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia.

作者信息

Liu Wangjie, Wu Huan, Wang Li, Yang Xiaoyu, Liu Chunyu, He Xiaojin, Li Weiyu, Wang Jiajia, Chen Yujie, Wang Hongyan, Gao Yang, Tang Shuyan, Yang Shenmin, Jin Li, Zhang Feng, Cao Yunxia

机构信息

Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, Shanghai, 200011, China; Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China.

Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, 230022, China.

出版信息

J Genet Genomics. 2019 Jan 20;46(1):53-56. doi: 10.1016/j.jgg.2018.09.006. Epub 2018 Dec 6.

DOI:10.1016/j.jgg.2018.09.006
PMID:30745215
Abstract
摘要

相似文献

1
Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia.FSIP2基因的纯合功能丧失突变导致男性不育并伴有弱畸精子症。
J Genet Genomics. 2019 Jan 20;46(1):53-56. doi: 10.1016/j.jgg.2018.09.006. Epub 2018 Dec 6.
2
Novel Variants Induce Super-Length Mitochondrial Sheath and Asthenoteratozoospermia in Humans.新型变异导致人类超长线粒体鞘和弱精症。
Int J Biol Sci. 2023 Jan 1;19(2):393-411. doi: 10.7150/ijbs.76051. eCollection 2023.
3
Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects.动力蛋白轴丝重链17中的新型复合杂合变异导致弱畸精子症并伴有精子鞭毛缺陷。
J Genet Genomics. 2020 Nov 20;47(11):713-717. doi: 10.1016/j.jgg.2020.07.004. Epub 2020 Oct 9.
4
Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis.FSIP2 中的新型突变导致精子鞭毛的多种形态异常和 ICSI 预后不良。
Gene. 2021 May 20;781:145536. doi: 10.1016/j.gene.2021.145536. Epub 2021 Feb 23.
5
Novel Compound Heterozygous Mutation in FSIP2 Causes Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and Male Infertility.新型 FSIP2 复合杂合突变导致精子鞭毛多种形态异常（MMAF）和男性不育。
Reprod Sci. 2022 Sep;29(9):2697-2702. doi: 10.1007/s43032-022-00965-4. Epub 2022 Jun 7.
6
Association of gene polymorphisms with asthenozoospermia in Northeast Chinese patients.中国东北地区患者基因多态性与弱精子症的关联
Biosci Rep. 2019 Jun 20;39(6). doi: 10.1042/BSR20181450. Print 2019 Jun 28.
7
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.一种 DNAH17 错义变异导致鞭毛不稳定和弱精症。
J Exp Med. 2020 Feb 3;217(2). doi: 10.1084/jem.20182365.
8
Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report.一名中国弱精子症患者轴丝动力蛋白重链基因5的两个突变：病例报告
Medicine (Baltimore). 2020 Jul 10;99(28):e20813. doi: 10.1097/MD.0000000000020813.
9
Novel homozygous mutations of DNAH5 in Kartagener syndrome.卡塔格内综合征中DNAH5的新型纯合突变
QJM. 2022 May 10;115(5):319-320. doi: 10.1093/qjmed/hcab330.
10
Quantitative Proteomic Analysis of Human Seminal Plasma from Normozoospermic and Asthenozoospermic Individuals.正常精子症和弱精子症个体人类精浆的定量蛋白质组学分析
Biomed Res Int. 2019 Mar 10;2019:2735038. doi: 10.1155/2019/2735038. eCollection 2019.

引用本文的文献

1
Novel variants of FSIP2 and SPEF2 cause varying degrees of spermatozoa damage in MMAF patients and favorable ART outcomes.FSIP2和SPEF2的新型变异在多重形态异常精子症（MMAF）患者中导致不同程度的精子损伤，并带来良好的辅助生殖技术（ART）结局。
J Assist Reprod Genet. 2025 Mar;42(3):977-989. doi: 10.1007/s10815-024-03378-1. Epub 2025 Jan 3.
2
The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.精子鞭毛多种形态异常的分子基础及其对临床实践的影响。
Genes (Basel). 2024 Oct 13;15(10):1315. doi: 10.3390/genes15101315.
3
Genetic etiological spectrum of sperm morphological abnormalities.
精子形态异常的遗传病因谱
J Assist Reprod Genet. 2024 Nov;41(11):2877-2929. doi: 10.1007/s10815-024-03274-8. Epub 2024 Oct 17.
4
Structure and Composition of Spermatozoa Fibrous Sheath in Diverse Groups of Metazoa.多门类后生动物精子纤维鞘的结构与组成。
Int J Mol Sci. 2024 Jul 12;25(14):7663. doi: 10.3390/ijms25147663.
5
Conserved genes regulating human sex differentiation, gametogenesis and fertilization.调控人类性别分化、配子发生和受精的保守基因。
J Transl Med. 2024 May 19;22(1):473. doi: 10.1186/s12967-024-05162-2.
6
Osimertinib resistance prognostic gene signature: STRIP2 is associated with immune infiltration and tumor progression in lung adenocarcinoma.奥希替尼耐药预后基因特征：STRIP2 与肺腺癌的免疫浸润和肿瘤进展相关。
J Cancer Res Clin Oncol. 2023 Nov;149(17):15573-15588. doi: 10.1007/s00432-023-05294-w. Epub 2023 Aug 31.
7
Novel Variants Induce Super-Length Mitochondrial Sheath and Asthenoteratozoospermia in Humans.新型变异导致人类超长线粒体鞘和弱精症。
Int J Biol Sci. 2023 Jan 1;19(2):393-411. doi: 10.7150/ijbs.76051. eCollection 2023.
8
Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature.精子鞭毛形态异常的临床检测、诊断与治疗：文献综述
Front Genet. 2022 Nov 8;13:1034951. doi: 10.3389/fgene.2022.1034951. eCollection 2022.
9
LRRC46 Accumulates at the Midpiece of Sperm Flagella and Is Essential for Spermiogenesis and Male Fertility in Mouse.LRRC46 积累在精子鞭毛中段，对于精子发生和雄性生育力是必需的。
Int J Mol Sci. 2022 Jul 31;23(15):8525. doi: 10.3390/ijms23158525.
10
Whole-genome resequencing reveals molecular imprints of anthropogenic and natural selection in wild and domesticated sheep.全基因组重测序揭示了野生和家养绵羊中人为选择和自然选择的分子印记。
Zool Res. 2022 Sep 18;43(5):695-705. doi: 10.24272/j.issn.2095-8137.2022.124.