Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng1092-103.pdf
Reference20 articles.
1. Bimbaumer, M. et al. Molecular cloning of the receptor for human antidiuretic hormone. Nature 357, 333–335 (1992).
2. Lolait, S.J. et al. Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature 357, 336–339 (1992).
3. Knoers, N. et al. Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome. Hum. Genet. 30, 31–38 (1988).
4. Jans, D.A., van Oost, B.A., Ropers, H.H. & Fahrenholz, F. Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors. J. bioL. Chem. 265, 15379–15382 (1990).
5. Savarese, R.M. & Fraser, C.M. In vitro mutagenesis and the search for structure-function relationships among G protein-coupled receptors. Biochem. J. 283, 1–19 (1992).
Cited by 168 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. Diabetes Insipidus;Pediatric Kidney Disease;2023
2. Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus;Journal of Personalized Medicine;2022-01-17
3. Renal cell markers: lighthouses for managing renal diseases;American Journal of Physiology-Renal Physiology;2021-12-01
4. Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development;JIMD Reports;2021-09-29
5. Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis;Biomedicines;2021-03-15
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