Results 71 to 80 of about 10,292,350 (166)
New SLC12A3 disease causative mutation of Gitelman's syndrome
, 2016 Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter.
Bombardiere, Francesco +8 more
core +1 more source
, 2023 Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Heng Li +9 more
core +1 more source
Cancer Medicine, Volume 15, Issue 8, August 2026.ABSTRACT Radiation therapy (RT) is a mainstay of treatment for a myriad of cancers, often utilized for tumors that are unable to be resected, as well as an adjunct to surgery and chemotherapy. Unfortunately, many cancers are resistant to RT‐induced damage and subsequent cell death.
Joseph Carmicheal +4 more
wiley +1 more source
Gitelman syndrome combined with complete growth hormone deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Se Ra Min +4 more
doaj +1 more source
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder
Endocrine Connections, 2022 Purposes: This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimensional structure change of human Na–Cl co-transporter (hNCC), and to test the activity of these ...
Lanping Jiang +7 more
doaj +1 more source
Advanced Science, Volume 13, Issue 40, 17 July 2026.PD‐L1 is primarily expressed in renal tubules and upregulated in both murine models of AKI and renal biopsy samples from patients with AKI. PD‐L1 can promote adaptive TECs repair through interacting with BRCA1, independent of its canonical immunomodulatory function of T cells, and PD‐L1 supplementation may represent a promising therapeutic strategy for
Wei Jiang +17 more
wiley +1 more source
Home Parenteral Support in Severe Gitelman Syndrome: A Case Report
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Gitelman syndrome (GS), also known as familial hypokalaemia‐hypomagnesemia, is a rare autosomal recessive renal tubular disorder characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Electrolyte replacement of potassium and magnesium remains the mainstay of management, with oral supplementation achieving this ...
Georgia Martin +2 more
wiley +1 more source
Advanced Science, Volume 13, Issue 26, 8 May 2026.This study delineates macrophage heterogeneity along the acute kidney injury to chronic kidney disease transition. Single‐cell RNA sequencing reveals a TRAP5+ scar‐associated macrophage subset driven by Spp1–Cd44 signaling and mitochondrial metabolic reprogramming.
Chenxi Wang +13 more
wiley +1 more source
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
doaj +1 more source
Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models
Advanced Science, Volume 13, Issue 25, 4 May 2026.Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka +9 more
wiley +1 more source