A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria.
作者信息
Gorvin Caroline M
机构信息
Institute of Metabolism and Systems Research (IMSR) and Centre for Diabetes, Endocrinology and Metabolism (CEDAM), University of Birmingham, Birmingham, B15 2TT, UK.
Centre for Membrane Proteins and Receptors (COMPARE), Universities of Birmingham and Nottingham, Birmingham, B15 2TT, UK.
出版信息
Eur J Hum Genet. 2024 Nov;32(11):1345-1346. doi: 10.1038/s41431-024-01613-y. Epub 2024 Jun 5.
Abstract
摘要
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本文引用的文献
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Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.双等位基因TRPV5突变导致的钙通透性降低会引发常染色体隐性遗传性肾性钙流失性高钙尿症。
Eur J Hum Genet. 2024 Nov;32(11):1506-1514. doi: 10.1038/s41431-024-01589-9. Epub 2024 Mar 25.
2
Molecular mechanisms altering tubular calcium reabsorption.改变管状钙重吸收的分子机制。
Pediatr Nephrol. 2022 Apr;37(4):707-718. doi: 10.1007/s00467-021-05049-0. Epub 2021 Apr 1.
3
Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.TRPV5 基因多态性与钙结石形成的相关性：来自印度西孟加拉邦的病例对照研究。
World J Urol. 2020 May;38(5):1311-1322. doi: 10.1007/s00345-019-02911-7. Epub 2019 Aug 19.
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The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.与复发性肾结石相关的L530R变异会损害TRPV5的结构和功能。
Biochem Biophys Res Commun. 2017 Oct 21;492(3):362-367. doi: 10.1016/j.bbrc.2017.08.102. Epub 2017 Aug 25.
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Common and rare variants associated with kidney stones and biochemical traits.与肾结石及生化特征相关的常见和罕见变异
Nat Commun. 2015 Aug 14;6:7975. doi: 10.1038/ncomms8975.
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A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients.瞬时受体电位香草酸亚型5（TRPV5）钙通道基因中的单核苷酸多态性（rs4236480）与钙肾结石患者的结石多发性相关。
Mediators Inflamm. 2015;2015:375427. doi: 10.1155/2015/375427. Epub 2015 May 18.
7
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.常染色体显性高钙尿症在一种由于上皮钙通道 TRPV5 突变的小鼠模型中。
PLoS One. 2013;8(1):e55412. doi: 10.1371/journal.pone.0055412. Epub 2013 Jan 30.
8
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Nephrol Dial Transplant. 2009 Jun;24(6):1919-24. doi: 10.1093/ndt/gfn735. Epub 2009 Jan 8.
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Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5.缺乏TRPV5的小鼠出现肾钙流失、钙吸收增加和骨厚度降低。
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