Results 91 to 100 of about 10,292,350 (166)
Characteristics of SBP lowering genetic variants in ACE, ADRB1, and SLC12A3.
, 2022 Characteristics of SBP lowering genetic variants in ACE, ADRB1, and SLC12A3.
Andrea Gsur (9900039) +22 more
core +1 more source
Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review
Case Reports in Perinatal Medicine, 2022 Gitelman syndrome is a rare salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene, which is expressed in the distal convoluted tubule and accounts for 5–10% of renal sodium reabsorption.
Cao Yang +5 more
doaj +1 more source
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
, 2022 (A) Human DCT cells were exposed to aldosterone or vehicle, with or without sVpr, and were processed for the ChIP assay, using anti-FLAG antibody, targeting FLAG-MR.
Hewang Lee (13839931) +19 more
core +1 more source
Molecular Ecology, Volume 35, Issue 1, January 2026.ABSTRACT Salinity—an essential factor shaping marine species distributions—is rapidly shifting due to global change, yet the mechanisms of salinity tolerance and adaptation remain poorly understood. We investigated local adaptation in the calanoid copepod Acartia tonsa, a broadly distributed marine species that thrives in the brackish Baltic Sea. Using
Alexandra Hahn +4 more
wiley +1 more source
A Rare Case of Bartter Syndrome Type 3 Diagnosed in Elderly Age
Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.Bartter syndrome (BS) type 3 typically presents in childhood and is caused by defects in NaCl transporters of the thick ascending limb of the loop of Henle. We report a 66‐year‐old woman with asymptomatic but severe hypokalemia (2.0 mmol/L), metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Tsuyoshi Okura +6 more
wiley +1 more source
Genetics and Molecular Research, 2015 Mounting evidence has implicated the SLC12A3 gene in essential hypertension. Here, we examined the potential associations of common variants of the SLC12A3 gene with blood pressure traits in Mongolians in China. Genomic DNA was extracted from 508 unrelated Mongolian patients with essential hypertension and 246 normotensive Mongolian subjects for ...
J Q, Liang, Y G, Xi, C Y, An, X L, Su
openaire +2 more sources
Case Reports in Nephrology, Volume 2026, Issue 1, 2026.Gitelman syndrome (GS) is a rare inherited renal salt‐wasting tubulopathy characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its nonspecific presentation often overlaps with that of more common pediatric conditions, leading to delayed diagnosis, particularly in resource‐limited settings.
Erneus Ernest +2 more
wiley +1 more source
, 2020 Background Gitelman's syndrome (GS) is a rare salt-losing renal tubular disorder associated with SLC12A3 gene mutations, which encodes the Na-Cl co-transporter (NCCT).
B. Dong +7 more
semanticscholar +1 more source
Journal of Diabetes Research, Volume 2026, Issue 1, 2026.Background Diabetic kidney disease (DKD) is a common diabetes complication that increases global morbidity and mortality. To identify DKD biomarkers and explore autophagy‐related mechanisms to find potential therapeutic targets for DKD treatment. Methods After standardizing and analyzing the GSE142025 and Merged_GSE47183_GSE32591 datasets, DKD‐related ...
Qin Wang +5 more
wiley +1 more source