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
1
Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.
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.
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.
World J Urol. 2020 May;38(5):1311-1322. doi: 10.1007/s00345-019-02911-7. Epub 2019 Aug 19.
4
The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.
Biochem Biophys Res Commun. 2017 Oct 21;492(3):362-367. doi: 10.1016/j.bbrc.2017.08.102. Epub 2017 Aug 25.
5
Common and rare variants associated with kidney stones and biochemical traits.
Nat Commun. 2015 Aug 14;6:7975. doi: 10.1038/ncomms8975.
6
A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients.
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.
PLoS One. 2013;8(1):e55412. doi: 10.1371/journal.pone.0055412. Epub 2013 Jan 30.
8
TRPV5 gene polymorphisms in renal hypercalciuria.
Nephrol Dial Transplant. 2009 Jun;24(6):1919-24. doi: 10.1093/ndt/gfn735. Epub 2009 Jan 8.
9
Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5.
J Clin Invest. 2003 Dec;112(12):1906-14. doi: 10.1172/JCI19826.
10
Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria.
Nephrol Dial Transplant. 2002 Sep;17(9):1614-20. doi: 10.1093/ndt/17.9.1614.
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