The genetics of kidney stone disease and nephrocalcinosis

P Singh, PC Harris, DJ Sas, JC Lieske - Nature Reviews Nephrology, 2022 - nature.com
Kidney stones (also known as urinary stones or nephrolithiasis) are highly prevalent,
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …

CLC chloride channels and transporters: structure, function, physiology, and disease

TJ Jentsch, M Pusch - Physiological reviews, 2018 - journals.physiology.org
CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery

P Imbrici, A Liantonio, GM Camerino… - Frontiers in …, 2016 - frontiersin.org
In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

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

L Gianesello, D Del Prete, F Anglani, LA Calò - Human genetics, 2021 - Springer
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 …

Learning physiology from inherited kidney disorders

J van der Wijst, H Belge, RJM Bindels… - Physiological …, 2019 - journals.physiology.org
The identification of genes causing inherited kidney diseases yielded crucial insights in the
molecular basis of disease and improved our understanding of physiological processes that …

Structural basis of adenine nucleotides regulation and neurodegenerative pathology in ClC-3 exchanger

Y Wan, S Guo, W Zhen, L Xu, X Chen, F Liu… - Nature …, 2024 - nature.com
The ClC-3 chloride/proton exchanger is both physiologically and pathologically critical, as it
is potentiated by ATP to detect metabolic energy level and point mutations in ClC-3 lead to …

[HTML][HTML] Observations of a large Dent disease cohort

A Blanchard, E Curis, T Guyon-Roger, D Kahila… - Kidney international, 2016 - Elsevier
Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with
nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and …

Impaired endosome maturation mediates tubular proteinuria in dent disease cell culture and mouse models

KE Shipman, CJ Baty, KR Long, Y Rbaibi… - Journal of the …, 2023 - journals.lww.com
Background Loss of function of the 2Cl−/H+ antiporter ClC-5 in Dent disease impairs the
uptake of filtered proteins by the kidney proximal tubule, resulting in tubular proteinuria …

Update on Dent disease

AM Ehlayel, L Copelovitch - Pediatric Clinics, 2019 - pediatric.theclinics.com
Dent disease is a renal proximal tubular disorder characterized by low molecular weight
(LMW) proteinuria, hypercalciuria, and nephrocalcinosis. Nephrolithiasis, chronic kidney …

Hepatocyte nuclear factor-1β controls mitochondrial respiration in renal tubular cells

A Casemayou, A Fournel, A Bagattin… - Journal of the …, 2017 - journals.lww.com
AKI is a frequent condition that involves renal microcirculation impairment, infiltration of
inflammatory cells with local production of proinflammatory cytokines, and subsequent …