Results 101 to 110 of about 6,819 (177)

Mutational spectrum of the SLC12A3 gene in a cohort of patients with Gitelman syndrome in north-eastern Italy

reservedIntroduction: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
MERLI, JACOPO NICOLÒ
core  

Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss.

, 2003
Item does not contain fulltextBACKGROUND: Based on genetic studies in families with hereditary renal Mg(2+) reabsorption disorders, several genes were shown to be involved in renal Mg(2+) transport.
Vliet, W.A. van der, Willems, J.L., Heuvel, L.P.W.J. van den, Knoers, N.V.A.M., Monnens, L.A.H., Hemmes, S., Meij, I.C.   +6 more
core  

Does hydrochlorothiazide-associated hyponatremia in hypertensive individuals have a genetic origin?

Clinical and Experimental Hypertension
Objective Hyponatremia is one of the most common electrolyte disorders in clinical practice and is frequently observed following thiazide use. Advanced age and female gender are implicated in the etiology of hydrochlorothiazide (HCTZ)-associated ...
Gulsum Ozkan, Caner Celik, Hilmi Tozkir, Semih Asıkovali, Nergiz Bayrakci   +4 more
doaj   +1 more source

Rol de variantes genéticas en el desarrollo de Enfermedad Renal Crónica en pacientes con Diabetes Mellitus Tipo 2.

Revista Methodo, 2018
La Enfermedad Renal Crónica (ERC) es una afección que perjudica a un gran número de pacientes. Una de las causas es la Nefropatía en pacientes con Diabetes Mellitus Tipo 2 (DM2).
Yang P, Ojeda V, Ruiz-Pecchio A, Soria NW   +3 more
doaj  

The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights

Frontiers in Endocrinology
BackgroundGitelman Syndrome (GS) patients frequently exhibit disrupted glucose metabolism, attributed to hypokalemia, hypomagnesemia and heightened aldosterone. This study delved into the genetic underpinnings linked to insulin resistance and diabetes in
Yaqi Yin, Liqin Li, Songyan Yu, Yu Xin, Lili Zhu, Xiao Hu, Kang Chen, Weijun Gu, Yiming Mu, Li Zang, Zhaohui Lyu   +10 more
doaj   +1 more source

SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy

, 2006
Diabetic nephropathy is the most common cause of end-stage renal disease (ESRD). Genetic susceptibility plays an important role in the development and progression of diabetic nephropathy.
Park, Kyong Soo, Park, Byung Lae, Moon, Min Kyong, Ahn, Curie, Lee, Hong Kyu, Cho, Young Min, Hwang, Young Hwan, Oh, Kook Whan, Kim, Jae Hyeon, Shin, Hyoung Doo, Kim, Seong Yeon   +10 more
core  

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

World Journal of Clinical Cases, 2019
To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype.The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing
openaire   +2 more sources

A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome

Gitelman syndrome (GS) is the most prevalent genetic tubulopathy characterized by several electrolyte abnormalities, including hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Lam, Karen Siu Ling, Tan, Kathryn Choon Beng, Woo, Yu Cho, Lam, Ching Wan, Lee, Alan Chun Hong, Ling, Tsz Ki, Woo, Chariene Shao Lin, Law, Chun Yiu, Chow, Wing Sun, Lee, Chi Ho, Lau, Eunice, Chang, Johnny Yau Cheung, Leung, Eunice Ka Hong, Lui, David Tak Wai   +13 more
core   +1 more source

Gitelman syndrome DD thiazide diuretics abuse

Open Medicine, 2014
Keller Karsten, Beule Johannes, Dippold Wolfgang   +2 more
doaj   +1 more source

Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling. [PDF]

Hum Genet
Zhang H, Zhao W, Ma L, Yang X, Gao J, Liu X, Xie YG, Hu Y, Luo H, Han J.   +9 more
europepmc   +1 more source