Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1

Author:

Li Sisi,Xi Quansheng,Zhang Xiaoyu,Yu Dong,Li Lin,Jiang Zhenyang,Chen Qiuyun,Wang Qing K.,Traboulsi Elias I.

Funder

National Natural Science Foundation of China

National Heart, Lung, and Blood Institute

Hubei Province Natural Science Key Program

Chinese National Basic Research Programs

Hubei Province’s Outstanding Medical Academic Leader Program

Specialized Research Fund for the Doctoral Program of Higher Education from the Ministry of Education

“Innovative Development of New Drugs” Key Scientific Project

unrestricted grant from Research to Prevent Blindness

The Bureau of Human Resources and Social Security of Wuhan City

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Reference65 articles.

1. Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS (2013) Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res 23:236–247

2. Alstrom CH, Hallgren B, Nilsson LB, Asander H (1959) Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence–Moon–Bardet–Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl 129:1–35

3. Arfuzir NN, Lambuk L, Jafri AJ, Agarwal R, Iezhitsa I, Sidek S, Agarwal P, Bakar NS, Kutty MK, Yusof AP, Krasilnikova A, Spasov A, Ozerov A, Mohd Ismail N (2016) Protective effect of magnesium acetyltaurate against endothelin-induced retinal and optic nerve injury. Neuroscience 325:153–164

4. Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ (2013) Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet 22:1432–1442

5. Barbelanne M, Song J, Ahmadzai M, Tsang WY (2013) Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. Hum Mol Genet 22:2482–2494

同舟云学术

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