Results 111 to 120 of about 7,281,051 (191)
Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.Abstract Renal potassium wasting syndromes, such as Gitelman's syndrome (GS), are well documented in humans but rarely reported in veterinary medicine. This case describes a 6‐month‐old domestic medium‐hair cat presenting with chronic hypokalaemia, polyuria and polydipsia. Diagnostic evaluation revealed hypokalaemia, metabolic alkalosis, hypochloraemia
Kyle L. Granger Jr. +2 more
wiley +1 more source
A Network of SLC and ABC Transporter and DME Genes Involved in Remote Sensing and Signaling in the Gut-Liver-Kidney Axis. [PDF]
, 2019 Genes central to drug absorption, distribution, metabolism and elimination (ADME) also regulate numerous endogenous molecules. The Remote Sensing and Signaling Hypothesis argues that an ADME gene-centered network-including SLC and ABC "drug" transporters,
Bush, Kevin T +2 more
core +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.Abstract INTRODUCTION Cardiometabolic risks affect cognition during aging, yet genetic basis for both remain understudied in Indians. METHODS This study constructs an ancestry‐matched Indian haplotype reference panel for genotype imputation of 5111 rural Indians. Single‐locus, gene‐based, conditional genome‐wide association analyses are performed on 20
Shreya Chakraborty +10 more
wiley +1 more source
Stem Cell Research, 2020 We established a human induced pluripotent stem cells (hiPSC) line (CMCi002-A) from peripheral blood mononuclear cells (PBMCs) of 29-year-old male with Gitelman’s syndrome (GIT) caused by the mutation of solute carrier family 12 member 3 (SLC12A3) gene ...
Sun Woo Lim +7 more
doaj +1 more source
The role of renal transporters and novel regulatory interactions in the TAL that control blood pressure [PDF]
, 2017 Hypertension (HTN), a major public health issue is currently the leading factor in the global burden of disease, where associated complications account for 9.4 million deaths worldwide every year (98).
Dominiczak, Anna +2 more
core +1 more source
Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia [PDF]
, 2015 Deletion of exon 9 from Cullin‐3 (CUL3, residues 403–459: CUL3Δ403–459) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt).
Al Maskari, Raya S. +14 more
core +4 more sources
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
Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD [PDF]
, 2016 BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-
Bacallao, Robert L. +12 more
core +2 more sources
A comprehensive analysis of gene expression profiles in distal parts of the mouse renal tubule [PDF]
, 2018 The distal parts of the renal tubule play a critical role in maintaining homeostasis of extracellular fluids. In this review, we present an in-depth analysis of microarray-based gene expression profiles available for microdissected mouse distal nephron ...
Bonny, Olivier +4 more
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