A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia
Author:
Funder
Acibadem University Internal Funding
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0746-6.pdf
Reference54 articles.
1. Baran R, de Berker D, Holzberg M, Thomas L. Baran and Dawber’s diseases of the nails and their management. 4th ed. Oxford: Wiley- Blackwell; 2012.
2. Khan S, Basit S, Habib R, Kamal A, Muhammad N, Ahmad W. Genetics of human isolated hereditary nail disorders. Br J Dermatol. 2015;173(4):922–9.
3. Fröjmark AS, Schuster J, Sobol M, et al. Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am J Hum Genet. 2011;88:852–60.
4. Naz G, Pasternack SM, Perrin C, et al. FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol. 2012;166:1088–94.
5. Raza SI, Muhammad N, Khan S, Ahmad W. A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. Br J Dermatol. 2013;168:422–5.
Cited by 5 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. Long non‐coding RNA linc00659 promotes tumour progression by regulating FZD6/Wnt/β‐catenin signalling pathway in colorectal cancer via m6A reader IGF2BP1;The Journal of Gene Medicine;2023-11-27
2. Frizzled 6 mutation regulates reserpine-induced depression-like behavior and Wnt signaling pathway in mice;European Journal of Pharmacology;2023-10
3. Genome-Wide Search for Associations with Meat Production Parameters in Karachaevsky Sheep Breed Using the Illumina BeadChip 600 K;Genes;2023-06-19
4. Planar cell polarity (PCP) proteins support spermatogenesis through cytoskeletal organization in the testis;Seminars in Cell & Developmental Biology;2022-01
5. Integrating Evolutionary Genetics to Medical Genomics: Evolutionary Approaches to Investigate Disease-Causing Variants;Methods in Molecular Medicine;2021-01-20
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