Associated Papers
Kidney stone biology: insights from genetics.
Spasiano A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.
Guleray Lafci N et al.
European Journal of Human Genetics : Ejhg, 2024
A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria.
Gorvin CM
European Journal of Human Genetics : Ejhg, 2024
Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.
Mitra P et al.
World Journal of Urology, 2020
Modeling the structural and dynamical changes of the epithelial calcium channel TRPV5 caused by the A563T variation based on the structure of TRPV6.
Wang L et al.
Journal of Biomolecular Structure & Dynamics, 2019
Unveiling the Distinct Mechanisms by which Disease-Causing Mutations in the Kelch Domain of KLHL3 Disrupt the Interaction with the Acidic Motif of WNK4 through Molecular Dynamics Simulation.
Wang L et al.
Biochemistry, 2019
Genetics of common complex kidney stone disease: insights from genome-wide association studies.
Palsson R et al.
Urolithiasis, 2019
The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.
Wang L et al.
Biochemical and Biophysical Research Communications, 2017
Molecular Modeling of the Structural and Dynamical Changes in Calcium Channel TRPV5 Induced by the African-Specific A563T Variation.
Wang L et al.
Biochemistry, 2016
Stones: Gene variants associated with formation.
Stone L
Nature Reviews. Urology, 2015
Common and rare variants associated with kidney stones and biochemical traits.
Oddsson A et al.
Nature Communications, 2015
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