Results 1 to 10 of about 10,292,350 (166)

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority.
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao   +10 more
doaj   +7 more sources

A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene [PDF]

BMC Nephrology, 2018
Background Gitelman syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Since the symptoms are not severe and laboratory results are not always clear, Gitelman syndrome can go ...
Qin Chen, Yaqin Wu, Jingya Zhao, Ying Jia, Wei Wang   +4 more
doaj   +7 more sources

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree [PDF]

BMC Medical Genetics, 2018
Background Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities ...
Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li   +5 more
doaj   +7 more sources

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report [PDF]

Frontiers in Genetics, 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 ...
Wenqing Chen, Wenqing Chen, Wenqing Chen, Wenqing Chen, Qin Zhou, Qin Zhou, Qin Zhou, Qin Zhou, Hongjun Chen, Hongjun Chen, Hongjun Chen, Hongjun Chen, Heng Li, Heng Li, Heng Li, Heng Li, Jianghua Chen, Jianghua Chen, Jianghua Chen, Jianghua Chen   +19 more
doaj   +5 more sources

Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report [PDF]

BMC Nephrology, 2017
Background Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney.
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake   +6 more
doaj   +4 more sources

Polymorphisms in the SLC12A3 Gene Encoding Sodium-Chloride Cotransporter are Associated with Hypertension: A Family-Based Study in the Mongolian Population

Kidney & Blood Pressure Research, 2016
Background/Aims: Hypertension or persistent high blood pressure (BP) is a leading cause of death worldwide. Extensive evidence indicates that the thiazide-sensitive Na+-Cl- cotrans-porter (NCC) affects BP via regulation of renal sodium reabsorption ...
Caiyan An, Junqing Liang, Kejin Zhang, Xiulan Su   +3 more
doaj   +5 more sources

Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review [PDF]

BMC Endocrine Disorders, 2018
Background Gitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH.
Haiyang Zhou, Xinhuan Liang, Yingfen Qing, Bihui Meng, Jia Zhou, Song Huang, Shurong Lu, Zhenxing Huang, Haiyan Yang, Yan Ma, Zuojie Luo   +10 more
doaj   +4 more sources

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report [PDF]

BMC Medical Genomics, 2021
Background Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.
Zhiying Liu, Sai Wang, Ruixiao Zhang, Cui Wang, Jingru Lu, Leping Shao   +5 more
doaj   +3 more sources

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

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   +3 more sources

Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review [PDF]

BMC Nephrology, 2019
Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy ...
Eduardo De la Cruz-Cano, Cristina del C. Jiménez-González, Vicente Morales-García, Conny Pineda-Pérez, Juan G. Tejas-Juárez, Francisco J. Rendón-Gandarilla, Silvia Jiménez-Morales, José A. Díaz-Gandarilla   +7 more
doaj   +3 more sources