Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference40 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010
2. Claudin-16 deficiency impairs tight junction function in ameloblasts, leading to abnormal enamel formation;Bardet;J. Bone Miner. Res.,2016
3. Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle;Blanchard;Kidney Int.,2001
4. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics;Claverie-Martin;Clin. Kidney J.,2015
5. Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis;Claverie-Martín;PLoS One,2013
Cited by 11 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. Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis;Ophthalmic Genetics;2024-08-29
2. Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease;Biomedicines;2023-11-17
3. Ocular manifestations of the genetic renal tubulopathies;Ophthalmic Genetics;2023-09-13
4. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features;Calcified Tissue International;2021-11-11
5. Dysregulated expression of claudins in cancer (Review);Oncology Letters;2021-07-07
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