• 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

男性假两性畸形：一项利用全外显子组测序对46,XY性发育障碍进行的病例研究。

Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.

作者信息

Naumova Oxana Yu, Rychkov Sergey Yu, Burenkova Olga V, Solodunova Maria Yu, Polyanskaya Irina V, Arintcina Irina A, Zhukova Marina A, Ovchinnikova Irina V, Zhukova Olga V, Grigorenko Elena L

机构信息

Vavilov Institute of General Genetics Russian Academy of Sciences Moscow Russia.

Saint Petersburg State University Saint Petersburg Russia.

出版信息

Clin Case Rep. 2020 Sep 10;8(12):2889-2894. doi: 10.1002/ccr3.3286. eCollection 2020 Dec.

DOI:10.1002/ccr3.3286
PMID:33363845
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7752474/
Abstract

The study shows that whole-exome sequencing is a promising approach to detect novel variants-and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.

摘要

该研究表明，全外显子组测序是检测性发育障碍（DSD）中新变异和候选基因的一种有前景的方法，作为未来的一个方向，它可能会改进针对这种异质性疾病的诊断基因 panel。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4320/7752474/9c464142f592/CCR3-8-2889-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4320/7752474/3adccf5c7df9/CCR3-8-2889-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4320/7752474/9c464142f592/CCR3-8-2889-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4320/7752474/3adccf5c7df9/CCR3-8-2889-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4320/7752474/9c464142f592/CCR3-8-2889-g002.jpg

相似文献

1
Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.男性假两性畸形：一项利用全外显子组测序对46,XY性发育障碍进行的病例研究。
Clin Case Rep. 2020 Sep 10;8(12):2889-2894. doi: 10.1002/ccr3.3286. eCollection 2020 Dec.
2
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.中国一系列 46,XY 性发育障碍患者的遗传谱。
Andrology. 2024 Jan;12(1):98-108. doi: 10.1111/andr.13446. Epub 2023 May 19.
3
Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study.一种新型雄激素受体基因突变的鉴定及其在完全雄激素不敏感综合征（CAIS）伊朗家系中的特征：分子动力学模拟研究。
J Biomol Struct Dyn. 2023 Nov;41(19):9850-9864. doi: 10.1080/07391102.2022.2148125. Epub 2022 Nov 21.
4
Case Report of Male Pseudohermaphroditism (Androgen Insensitivity Syndrome): Congenital Disorder of Sexual Differentiation.男性假两性畸形（雄激素不敏感综合征）病例报告：先天性性分化障碍
J Assoc Physicians India. 2023 Jan;71(1):1.
5
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.一项中国前瞻性研究中46,XY性发育障碍儿童的临床特征与基因扩展情况
Endocr Connect. 2023 Sep 4;12(10). doi: 10.1530/EC-23-0029. Print 2023 Oct 1.
6
46,XY disorders of sex development: the use of NGS for prevalent variants.46,XY性发育障碍：二代测序技术用于检测常见变异体
Hum Genet. 2022 Dec;141(12):1863-1873. doi: 10.1007/s00439-022-02465-6. Epub 2022 Jun 21.
7
Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.基于游离血浆 DNA 与靶向二代测序的 46,XY 性发育障碍（DSD）检测。
Genes (Basel). 2021 Nov 25;12(12):1890. doi: 10.3390/genes12121890.
8
The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome.FKBP4 基因，编码雄激素受体信号通路的调节剂，是雄激素不敏感综合征的一个新的候选基因。
Int J Mol Sci. 2020 Nov 9;21(21):8403. doi: 10.3390/ijms21218403.
9
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.XY女性全基因组测序病例报告：鉴定一种新型SRY突变并修正雄激素不敏感综合征的误诊
BMC Endocr Disord. 2016 Nov 8;16(1):58. doi: 10.1186/s12902-016-0141-7.
10
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. 额外证据表明染色体失衡以及 SOX8、ZNRF3 和 HHAT 基因变异在人类早期睾丸发育中的作用。
Reprod Biol Endocrinol. 2023 Jan 11;21(1):2. doi: 10.1186/s12958-022-01045-7.

本文引用的文献

1
CADD: predicting the deleteriousness of variants throughout the human genome.CADD：预测整个人类基因组中变异的有害性。
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894. doi: 10.1093/nar/gky1016.
2
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.下一代测序揭示了表型多变的 46, XY 性发育障碍患者的遗传特征。
Hum Genet. 2018 Mar;137(3):265-277. doi: 10.1007/s00439-018-1879-y. Epub 2018 Mar 26.
3
Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
.
17β-羟类固醇脱氢酶3型缺乏症患者的青春期发育
Horm Res Paediatr. 2017;87(5):354-358. doi: 10.1159/000453613. Epub 2016 Dec 12.
4
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
5
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.类固醇17-羟化酶和17,20-裂解酶缺乏症，遗传学与药理学
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):71-78. doi: 10.1016/j.jsbmb.2016.02.002. Epub 2016 Feb 6.
6
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.Phenolyzer：基于表型对人类疾病候选基因进行优先级排序。
Nat Methods. 2015 Sep;12(9):841-3. doi: 10.1038/nmeth.3484. Epub 2015 Jul 20.
7
UniProt: a hub for protein information.通用蛋白质数据库（UniProt）：蛋白质信息中心。
Nucleic Acids Res. 2015 Jan;43(Database issue):D204-12. doi: 10.1093/nar/gku989. Epub 2014 Oct 27.
8
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.鲨烯醇增多症：胆固醇合成障碍诊断模糊性的一个例证
Orphanet J Rare Dis. 2014 Jun 25;9:94. doi: 10.1186/1750-1172-9-94.
9
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.人类表型本体论项目：通过表型数据将分子生物学和疾病联系起来。
Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11.
10
Defects in androgen biosynthesis causing 46,XY disorders of sexual development.雄激素生物合成缺陷导致的 46,XY 性发育障碍。
Semin Reprod Med. 2012 Oct;30(5):417-26. doi: 10.1055/s-0032-1324726. Epub 2012 Oct 8.