Molecular Characterization of A Novel Mutation In The Renal NaCl Cotransporter Causing Gitelman's Syndrome By Impairing Transporter Trafficking [PDF]
, 2017 Mutations affecting the sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the nephron are causative of Gitelman's syndrome (GS), a rare autosomal recessive disease characterized by electrolytic alterations similar to those induced by
Ravarotto, Verdiana
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ENaC activity in collecting ducts modulates NCC in cirrhotic mice. [PDF]
, 2015 Cirrhosis is a frequent and severe disease, complicated by renal sodium retention leading to ascites and oedema. A better understanding of the complex mechanisms responsible for renal sodium handling could improve clinical management of sodium retention.
Beatrice, R. +8 more
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Parvalbumin: calcium and magnesium buffering in the distal nephron [PDF]
, 2017 Parvalbumin (PV) is a classical member of the EF-hand protein superfamily that has been described as a Ca2+ buffer and Ca2+ transporter/shuttle protein and may also play an additional role in Mg2+ handling.
Devuyst, Olivier +4 more
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Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: Early diagnosis by ultrasonographic study [PDF]
, 2015 Gitelman's syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia. The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and ...
Zabotti, Alen +5 more
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Advanced Science, Volume 13, Issue 7, 3 February 2026.In this study, scRNA‐seq and chemoproteomics are integrated to characterize CDDP‐bound proteins at single‐cell resolution in tumor‐bearing mice. Additionally, the research demonstrates that ICA alleviates CDDP‐induced nephrotoxicity while enhancing its chemotherapeutic efficacy.
Piao Luo +19 more
wiley +1 more source
Polymorphisms in the WNK1 gene are asociated with blood pressure variation and urinary potassium excretion [PDF]
, 2009 WNK1 - a serine/threonine kinase involved in electrolyte homeostasis and blood pressure (BP) control - is an excellent candidate gene for essential hypertension (EH). We and others have previously reported association between WNK1 and BP variation. Using
Brown, M +34 more
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Two Brothers from Macedonia with Gitelman Syndrome
Balkan Journal of Medical Genetics, 2023 Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene.
Janchevska A +8 more
doaj +1 more source
A single-nucleus RNA-sequencing pipeline to decipher the molecular anatomy and pathophysiology of human kidneys [PDF]
, 2019 Defining cellular and molecular identities within the kidney is necessary to understand its organization and function in health and disease. Here we demonstrate a reproducible method with minimal artifacts for single-nucleus Droplet-based RNA sequencing (
Chen, Song +12 more
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Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella +22 more
wiley +1 more source
Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction? [PDF]
, 2017 We report on a 27-year-old patient presenting with chronic hypokalaemia, inappropriate kaliuresis, hypomagnesaemia and alkalosis, associated with moderate proteinuria.
Auberger, Ines +7 more
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