Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21543/fullpdf
Reference21 articles.
1. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure;Aittomaki;Cell,1995
2. Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure;Bachelot;Eur J Endocrinol,2009
3. Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome;Chaney;Biochemistry,2005
4. Characterization of NOBOX DNA binding specificity and its regulation of Gdf9 and Pou5f1 promoters;Choi;J Biol Chem,2006
5. Primary ovarian insufficiency;De Vos;Lancet,2010
Cited by 97 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs;Biology of Sex Differences;2024-09-02
2. Genetics of Premature Ovarian Insufficiency;Fertility Science and Research;2024-06-15
3. Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing;BMC Medical Genomics;2024-04-22
4. HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF;Hormones;2024-02-05
5. NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights;Journal of Assisted Reproduction and Genetics;2023-11-03
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3