Results 71 to 80 of about 7,332 (203)
Український Журнал Нефрології та Діалізу, 2023 Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalemia, metabolic alkalosis, and hypocalciuria. The syndrome develops as a result of various mutations in the SLC12A3 gene. This manuscript aims to highlight the
Melya Pelin Kırık, Can Hüzmeli
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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
core
BMC Nephrology, 2019 Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy ...
Eduardo De la Cruz-Cano +7 more
doaj +1 more source
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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Detection of prostate cancer-specific transcripts in extracellular vesicles isolated from post-DRE urine [PDF]
, 2017 Background: The measurement of gene expression in post-digital rectal examination (DRE) urine specimens provides a non-invasive method to determine a patient’s risk of prostate cancer.
Clark, Jeremy +9 more
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Clinical Case Reports, 2017 Key Clinical Message Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the ...
Ming‐Feng Xia +6 more
doaj +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
core
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]
, 2019 BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli +49 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