Results 21 to 30 of about 7,332 (203)

Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome [PDF]

QJM: An International Journal of Medicine, 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. Here, we investigated the mutation of SLC12A3 gene in a Chinese pedigree with GS and analyzed the clinical manifestations.
T Wang, Y Chen, X Yin, H Qiu
openaire   +2 more sources

Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder [PDF]

Endocrine Connections, 2022
Purposes This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimensional structure change of human Na–Cl co-transporter (hNCC), and to test the activity of these mutations and some novel mutations in vitro and in vivo.
Lanping Jiang, Xiaoyan Peng, Bingbin Zhao, Lei Zhang, Lubin Xu, Xuemei Li, Min Nie, Limeng Chen   +7 more
openaire   +2 more sources

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome

npj Genomic Medicine, 2021
Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown.
Ming-Tso Yan, Sung-Sen Yang, Min-Hua Tseng, Chih-Jen Cheng, Jeng-Daw Tsai, Chih-Chien Sung, Yu-Juei Hsu, Shih-Hua Lin   +7 more
doaj   +1 more source

HIV-1 Vpr suppresses expression of the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.

PLoS ONE, 2022
HIV-associated nephropathy (HIVAN) impairs functions of both glomeruli and tubules. Attention has been previously focused on the HIVAN glomerulopathy. Tubular injury has drawn increased attention because sodium wasting is common in hospitalized HIV/AIDS ...
Shashi Shrivastav, Hewang Lee, Koji Okamoto, Huiyan Lu, Teruhiko Yoshida, Khun Zaw Latt, Hidefumi Wakashin, James L T Dalgleish, Erik H Koritzinsky, Peng Xu, Laureano D Asico, Joon-Yong Chung, Stephen Hewitt, John J Gildea, Robin A Felder, Pedro A Jose, Avi Z Rosenberg, Mark A Knepper, Tomoshige Kino, Jeffrey B Kopp   +19 more
doaj   +2 more sources

A novel mutation of SLC12A3 gene causing Gitelman syndrome

SAGE Open Medical Case Reports, 2022
A 48-year-old patient with a history of diabetes mellitus, presented to a surgical ward with abdominal pain. She was found to have hypokalemia. Her younger sister had passed away due to sudden cardiac death at the age of 25 years. Further evaluation revealed an elevated trans-tubular potassium gradient suggestive of renal potassium loss, normal blood ...
Neomal De Silva, Sivatharshya Pathmanathan, Manilka Sumanatilleke, Chinthana Dematapitiya, Preethi Dissanayake, Umesha Wijenayake, Vindya Subasinghe, Vajira Dissanayake   +7 more
openaire   +2 more sources

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

BMC Nephrology, 2020
Background Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT).
Bingzi Dong, Ying Chen, Xinying Liu, Yangang Wang, Fang Wang, Yuhang Zhao, Xiaofang Sun, Wenjuan Zhao   +7 more
doaj   +1 more source

Two Brothers from Macedonia with Gitelman Syndrome

Balkan Journal of Medical Genetics, 2023
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene.
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D   +8 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, Hu Yue, Zhao Ling, Zhang Jinming, Zhang Yu, Wen Jianxuan   +5 more
doaj   +1 more source

SLC12A3 variants modulate LDL cholesterol levels in the Mongolian population [PDF]

Lipids in Health and Disease, 2017
Abnormalities in lipid metabolism are crucial factors in the pathogenesis of cardiovascular disease (CVD). Variants of many genes have been verified to confer risk for lipid metabolism abnormalities. However, the relationship between genetic variants of the NCC-encoding SLC12A3 gene and lipid metabolism in the Mongolian population remains unclear.
Caiyan An, Kejin Zhang, Xiulan Su
openaire   +2 more sources

Transcriptional and Functional Analyses of SLC12A3 Mutations [PDF]

Journal of the American Society of Nephrology, 2007
Gitelman syndrome (GS) is a recessive salt-losing tubulopathy that is caused by mutations in the SLC12A3 gene that encodes the sodium-chloride co-transporter (NCC). GS is characterized by significant inter- and intrafamilial phenotype variability, with early onset and/or severe clinical manifestations in some patients.
Riveira-Munoz, E., Chang, Q., Godefroid, N., Hoenderop, J.G.J., Bindels, R.J.M., Dahan, K., Devuyst, O.   +6 more
openaire   +3 more sources