Results 61 to 70 of about 2,467 (196)

Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion [PDF]

, 2013
Our study investigated the association of rare allelic variants with extremes of 24-hour urinary calcium excretion because higher urinary calcium excretion is a dominant risk factor for calcium-based kidney stone formation.
Curhan, Gary C., Genovese, Giulio, Mount, David B., Pollak, Martin R., Toka, Hakan R.   +4 more
core   +7 more sources

The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report

BMC Research Notes, 2017
Background Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene.
Randula Ranawaka, Nirmala Dushyanthi Sirisena, Kavinda Chandimal Dayasiri, Andrea G. Cogal, John C. Lieske, Manoji Prabashini Gamage, Vajira H. W. Dissanayake   +6 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line from a patient with dent disease

Stem Cell Research, 2023
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease.
Xianying Fang, Ji Hyun Kim, Sheng Cui, Yoo Jin Shin, Hanbi Lee, Eun Jeong Ko, Hae Il Cheong, Sejoong Kim, Hoon Seok Kim, Myungshin Kim, Chul Woo Yang, Sun Woo Lim, Byung Ha Chung   +12 more
doaj   +1 more source

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +1 more source

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon [PDF]

, 2021
Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight ...
Anglani, Franca, Cal\uf2, Lorenzo A, Del Prete, Dorella, Gianesello, Lisa   +3 more
core   +1 more source

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease

Molecular Genetics & Genomic Medicine, 2020
Background To characterize the phenotypic spectrum and assess the antialbuminuric response to angiotensin converting enzyme (ACE) inhibitor and/or angiotensin receptor blocker (ARB) therapy in a cohort of children with Dent disease. Methods The patients’
Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Hongwen Zhang, Xiaoyu Liu, Baige Su, Na Guan, Xuhui Zhong, Suxia Wang, Jie Ding, Fang Wang   +11 more
doaj   +1 more source

Characteristics of binding sites of intergenic, intronic and exonic miRNAs with mRNAs of oncogenes coding intronic miRNAs [PDF]

, 2013
International audienceThe interaction of 784 intergenic (ig-miRNA), 686 intronic (in-miRNA) and 49 exonic miRNAs (ex-miRNA) with mRNAs of 51 oncogenes coding in-miRNAs was investigated.
Berillo, Olga, Issabekova, Assel, Ivashchenko, Anatoly, Regnier, Mireille   +3 more
core   +2 more sources

Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate

Journal of Lipid Research, 2014
Sphingosine-1-phosphate (S1P) mediates several cytoprotective functions of HDL. apoM acts as a S1P binding protein in HDL. Erythrocytes are the major source of S1P in plasma. After glomerular filtration, apoM is endocytosed in the proximal renal tubules.
Iryna Sutter, Rebekka Park, Alaa Othman, Lucia Rohrer, Thorsten Hornemann, Markus Stoffel, Olivier Devuyst, Arnold von Eckardstein   +7 more
doaj   +1 more source

Role of CFTR and ClC-5 in Modulating Vacuolar H+-ATPase Activity in Kidney Proximal Tubule [PDF]

, 2010
Background/Aims: It has been widely accepted that chloride ions moving along chloride channels act to dissipate the electrical gradient established by the electrogenic transport of H+ ions performed by H+-ATPase into subcellular vesicles.
Bezerra, Camila N. A., Carraro-Lacroix, Luciene Regina, Girardi, Adriana C. C., Lessa, Lucilia M. A., Malnic, Gerhard, Morales, Marcelo M., Pessoa, Thaissa D., Souza-Menezes, Jackson   +7 more
core   +1 more source

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report

Frontiers in Pediatrics, 2021
Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen, Yan Cao, Liyun Xu, Jingqi Liu, Xiaochuan Wu   +4 more
doaj   +1 more source