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Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case. [PDF]

Front Immunol
Li Y, Lu Y, Wang Y, Yang X, Zhang Q, Xie Y.   +5 more
europepmc   +1 more source

Transcription factors ETV4 and ETV5 are required for nephron progenitor cell maintenance, distal nephron development and connection to the collecting system. [PDF]

Front Cell Dev Biol
Day K, Thorner K, Thumma M, Zhang Y, VordemEsche E, Kuhlman W, Varnell A, Hosawi A, Hammond B, Fraunfelter M, Gaikwad P, Kofron M, Costantini FD, Cebrian C.   +13 more
europepmc   +1 more source

Novel Heterozygous Mutation of SLC12A3 Gene in Gitelman Syndrome [PDF]

QJM - Monthly Journal of the Association of Physicians, 2021
BACKGROUND Gitelman syndrome (GS) is an autosomal recessive disease primarily caused by mutations in the SLC12A3 gene, characterized by the hypokalaemic metabolic alkalosis with hypomagnesemia.
Hongyu Qiu
exaly   +4 more sources

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Novel Mutations of the SLC12A3 Gene in Patients With Gitelman Syndrome

Scandinavian Journal of Clinical and Laboratory Investigation, 2021
Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS). This study aimed to investigate the genetic mutations and clinical features of patients with GS. Four pedigrees (4 GS patients and 14 family members) were enrolled.
Shaogang Ma
exaly   +4 more sources

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

Clinica Chimica Acta
Gitelman syndrome (GS) is the most prevalent genetic tubulopathy characterized by several electrolyte abnormalities, including hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Chun-yiu Law, D. Lui, Eunice Y. T. Lau, C. L. Woo, Johnny Yau-Cheung Chang, Eunice Leung, A. Lee, Chi-Ho Lee, Yu-Cho Woo, Wing-Sun Chow, K. Lam, K. Tan, T. Ling, Ching-Wan Lam   +13 more
semanticscholar   +4 more sources

Novel Mutations in the SLC12A3 Gene Causing Gitelman's Syndrome in Swedes

DNA Sequence, 2007
Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild ...
Martina Montagnana, Cristiano Fava, Gian Cesare Guidi   +2 more
exaly   +5 more sources

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome

Clinical Endocrinology, 2022
Gitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide‐sensitive sodium‐chloride cotransporter (NCC).
Qiao Ying, Zhinan Ye, W. Zhang, Yingying Pan, Linxiong Dai, Kai Lin, Xiao-Cheng Feng, Xue-hong Dong, Fei He   +8 more
semanticscholar   +3 more sources

Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.

Clinical Nephrology, 2021
As the most frequent inherited tubulopathy, Gitelman syndrome (GS), has an incidence that has increased worldwide. The distribution of SLC12A3 gene mutation hotspots deserves exploration.
Xin-Yi Zheng, Shunlai Shang, G. Cai, Xiang-Mei Chen, Qing-Gang Li   +4 more
semanticscholar   +3 more sources

A Novel Compound Heterozygous Mutation of SLC12A3 Gene in a Pedigree With Gitelman Syndrome and Literature Review

Genes and Genomics, 2020
Gitelman syndrome (GS) is a tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, which is caused by mutations in SLC12A3 gene.The objective of this study was to investigate the mutation of SLC12A3 gene in a pedigree with GS and analyzed the clinical manifestations.Next-generation sequencing and Sanger ...
Yaomin Hu, Yan Li, Yawen Chen
exaly   +4 more sources