Results 61 to 70 of about 10,292,350 (166)
First case of Gitelman syndrome in a child in Macau
Global Pediatrics, 2023 The first case of a child with Gitelman syndrome (GS) in Macau was analyzed. The normotensive child presented with hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemia and hypocalciuria. SLC12A3 gene mutation was detected.
Yan Chen +3 more
doaj +1 more source
Molecular complexity analysis of the diagnosis of Gitelman syndrome in China
Open Life Sciences, 2023 Gitelman syndrome (GS) is an autosomal recessive renal tubal disease characterized by hypomagnesemia, hypokalemia, and hypocalciuria. The disease is caused by defects in the SLC12A3 gene, which encodes the thiazide diuretic-sensitive sodium chloride ...
Song Wei +5 more
doaj +1 more source
A uterine‐centric view of reproductive senescence: Genetic insights into late‐life performance in laying hens [PDF]
IMetaOmicsThis study identifies uterus weight as a heritable (h2 = 0.45) intermediate phenotype that independently associates with late‐life egg production and eggshell quality in aged laying hens. Genome‐wide association study (GWAS) reveals a genome‐wide significant locus on chromosome 3 and suggestive loci on chromosome 11 for uterus weight, mediation ...
Zhang J +7 more
europepmc +2 more sources
, 2022 (A) In the absence of Vpr, aldosterone binds MR in the cytoplasm. The activated MR translocates to the nucleus, where it binds the mineralocorticoid response element (MRE) in genomic DNA.
Hewang Lee (13839931) +19 more
core +1 more source
The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis
Case Reports in Nephrology and Dialysis, 2021 Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
doaj +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 ...
Hongjun Chen (132548) +4 more
core +1 more source
CRISPR/Cas9-based SLC12A3 gene knock in: a model for cellular feature analysis in Gitelman syndrome.
Kidney Research and Clinical PracticeBackground This study aims to investigate the effects of complete SLC12A3 gene knock-in using clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) in human-induced pluripotent stem cells (hiPSCs), focusing
Sun W. Lim +8 more
semanticscholar +1 more source
Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome [PDF]
BMC Pediatrics, 2019 Following publication of the original article [1], the editor informed that error was found.
Yuanmei Kong +6 more
openaire +2 more sources
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
, 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 ...
Hongjun Chen (132548) +4 more
core +1 more source