Genetics of common complex kidney stone disease: insights from genome-wide association studies

R Palsson, OS Indridason, VO Edvardsson, A Oddsson - Urolithiasis, 2019 - Springer
mineral density at the hip (p = 0.00039) and spine (p = 0.0077) in a sample of 8450 …
signal associating with kidney stones was a sequence variant in the first intron of CLDN14, …

Association study of CLDN14 variations in patients with kidney stones

W Shehzad, MY Zahoor - degruyter.com
variants in the CLDN14 gene were reportedly linked to kidney stone formation and reduced
bone mineral density … Previously, nonsynonymous homozygous mutations in CLDN14 were …

Association study of CLDN14 variations in patients with kidney stones

I Ullah, K Murtaza, H Ammara, Misbah… - Open Life …, 2022 - degruyter.com
variants in the CLDN14 gene were reportedly linked to kidney stone formation and reduced
bone mineral density … Previously, nonsynonymous homozygous mutations in CLDN14 were …

The Role of Claudin Gene Variants in Calcium-Based Kidney Stone Formation

S Feinstein - 2023 - search.proquest.com
… those in CLDN14 have been associated with Bidney stones in … stones to determine if they
had DNA sequence variants in … KO, including reduced bone mineral density, hypocalcemia, …

[HTML][HTML] Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children

MF Elshamaa, FI Fadel, S Kamel, H Farouk… - Turkish Journal of …, 2021 - ncbi.nlm.nih.gov
… In this study, the sequence variant ALPL rs1256328 T allele had … associated 1 binding site
within the CLDN14 risk haplotype have a higher likelihood of hypercalciuria and kidney stones

Expression Profiles of Claudin Gene Family Members in Patients with Recurrent Calcium Oxalate Kidney Stones

U Uysal, CB Mogul, V Caner, OL Tuncay - 2024 - researchsquare.com
… in CLDN14 gene were associated with kidney stones, calcium excretion and bone mineral
density [… reported that rs199565725 in CLDN14 showed the strongest association with kidney

Genetics of kidney stone disease—polygenic meets monogenic

J Halbritter - Néphrologie & Thérapeutique, 2021 - Elsevier
… , was shown to increase renal CLDN14 expression at the thick … Dysregulation of the so called
CaSR–CLDN14/16/19 axis … cumulatively indicates that genetic kidney stone disease is an …

The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation

F Khatami, A Gorji, M Khoshchehreh, R Mashhadi… - BMC Medical …, 2022 - Springer
… 14 (CLDN14) genes in recurrent kidney stones. We enrolled 30 consecutive recurrent kidney
stone … To identify promoter methylation, two target regions from each candidate gene were …

[图书][B] The Role of Claudin Sequence Variants in the Formation of Kidney Stones

Y Zhuang - 2021 - search.proquest.com
… , I hypothesize that sequence variants in claudin genes that … would result in a decrease in
Cldn14 expression (81). 32 1.6 … stone formation and low bone mineral density in a GWAS study …

The genetics of kidney stone disease and nephrocalcinosis

P Singh, PC Harris, DJ Sas, JC Lieske - Nature Reviews Nephrology, 2022 - nature.com
… common gene variants in the pathogenesis of kidney stones; … sequence variants known to
be associated with kidney stoneVariants in CLDN14, which encodes claudin-14, have been …