C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-27928-7.pdf
Reference47 articles.
1. Collin, R. W. et al. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. American journal of human genetics 86, 783–788, https://doi.org/10.1016/j.ajhg.2010.03.016 (2010).
2. Nishimura, D. Y. et al. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet 86, 686–695, https://doi.org/10.1016/j.ajhg.2010.03.005 (2010).
3. Hebrard, M. et al. Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. Eur J Hum Genet 19, 1256–1263, https://doi.org/10.1038/ejhg.2011.133 (2011).
4. Xu, Y. et al. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Human genetics 133, 1255–1271, https://doi.org/10.1007/s00439-014-1460-2 (2014).
5. Bocquet, B. et al. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. Molecular vision 19, 2487–2500 (2013).
Cited by 18 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. Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort;Journal of Ophthalmology;2024-03-04
2. Early Macular Involvement in Non-syndromic Retinitis Pigmentosa;Macular Diseases - An Update [Working Title];2023-12-06
3. Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases;International Journal of Molecular Sciences;2023-06-26
4. Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology;Cells;2023-06-10
5. Zebrafish and inherited photoreceptor disease: Models and insights;Progress in Retinal and Eye Research;2022-11
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