Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome
Author:
Affiliation:
1. Unidad de Investigacion, Hospital Nuestra Señora de Candelaria
2. Servicio de Rehabilitación, Hospital Nuestra Señora de Candelaria
3. Servicio de Pediatría, Hospital Nuestra Señora de Candelaria
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/8/1/8_2018.01131/_pdf
Reference27 articles.
1. 1. Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017; 469:927-936.
2. 2. Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005; 13:935-946.
3. 3. Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, Figeac M, Porchet N, Manouvrier-Hanu S, Escande F. Nail-Patella Syndrome: Clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016; 24:44-50.
4. 4. Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Spectrum of LMX1B mutations: From nail-patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017; 32:1845-1850.
5. 5. Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA. Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: Tissue-specific expression and linkage mapping on chromosome 9.Genomics. 1997; 15:520-524.
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. Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese Family;2024-03-14
2. Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl;Frontiers in Pediatrics;2021-06-14
3. Nail‑Patella syndrome with early onset end‑stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report;Biomedical Reports;2020-09-04
4. Insights into the regulatory molecules involved in glaucoma pathogenesis;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-09
5. Regulation of the Actin Cytoskeleton in Podocytes;Cells;2020-07-16
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