Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
Author:
Funder
U.S. Department of Health & Human Services | National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
https://www.nature.com/articles/s41588-020-0707-1.pdf
Reference35 articles.
1. Skafidas, E. et al. Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol. Psychiatry 19, 504–510 (2014).
2. Beales, P. L. et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet–Biedl syndrome. Am. J. Hum. Genet. 72, 1187–1199 (2003).
3. Katsanis, N. et al. Triallelic inheritance in Bardet–Biedl syndrome, a Mendelian recessive disorder. Science 293, 2256–2259 (2001).
4. Badano, J. L. et al. Dissection of epistasis in oligogenic Bardet–Biedl syndrome. Nature 439, 326–330 (2006).
5. Cardenas-Rodriguez, M. et al. The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex. Hum. Mol. Genet. 22, 4031–4042 (2013).
Cited by 28 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. The Role of Cilia and the Complex Genetics of Congenital Heart Disease;Annual Review of Genomics and Human Genetics;2024-08-27
2. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations;European Journal of Human Genetics;2024-07-31
3. Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1‐related ciliopathy spectrum;American Journal of Medical Genetics Part A;2024-06-25
4. The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications;2024-03-26
5. Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9;Current Issues in Molecular Biology;2024-03-18
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