Results 21 to 30 of about 7,281,051 (191)
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.
T. Wang, Y. Chen, X. Yin, H. Qiu
semanticscholar +3 more sources
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome. [PDF]
Int J Gen Med, 2023 Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. The aim of this research is to investigate the genetic mutations and clinical features of patients with clinical suspicion of GS.Six families were enrolled. The symptoms, clinical examination, laboratory results, genotypes,
Xun Z +5 more
europepmc +5 more sources
Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene. [PDF]
Intern Med, 2021 The eligibility for kidney donation and long-term post-donation renal prognosis of patients with Gitelman syndrome (GS) are unknown. We herein report a 44-year-old woman with GS who donated her kidney for transplant.
Kamejima S +5 more
europepmc +2 more sources
Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient. [PDF]
Int J Gen Med, 2021 Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis. In this study, we investigated the clinical presentation and sequenced 26 exons of SLC12A3 gene in a patient with a clinical suspicion of GS.Clinical work-up including clinical examination, electrocardiography (ECG), chest X-ray, bone mineral ...
Zhong M +6 more
europepmc +6 more sources
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome
International Journal of General Medicine, 2023 Zeli Xun,1,* Pengfei Gao,2,3,* Yanan Du,1 Xue Yan,3 Jingmin Yang,2– 4 Zhihua Wang1 1Department of Endocrinology, Xi’an Children’s Hospital, Shanxi, People’s Republic of China; 2State Key Laboratory of Genetic Engineering, School of Life Sciences,
Xun Z +5 more
doaj +2 more sources
Stem Cell Research, 2021 Gitelman Syndrome (GS) is an inherited autosome recessive disorder syndrome, which can be caused by the gene mutations of solute carrier family 12 member 3 gene (SLC12A3).
Xiaoling Guo +9 more
doaj +2 more sources
Frontiers in Genetics, 2022 The SLC12A3 (Solute carrier family 12 member 3) gene encodes a sodium-chloride cotransporter and mediates Na+ and Cl− reabsorption in the distal convoluted tubule of kidneys.
Nan Li, Harvest F. Gu
doaj +3 more sources
Egyptian Journal of Medical Human Genetics, 2022 Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis.
Melis Akpinar Gozetici +2 more
doaj +2 more sources
Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient
International Journal of General Medicine, 2021 Mei Zhong,1,* Zhenwei Zhai,2,* Xing Zhou,1 Jingxia Sun,1 Hui Chen,1 Wensheng Lu1 1Department of Endocrinology, The Peoples Hospital of Guangxi Zhuang Autonomous Region, Guangxi, People’s Republic of China; 2Department of Endocrinology, Tongde ...
Zhong M +5 more
doaj +2 more sources
Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome [PDF]
Clinical Journal of the American Society of Nephrology, 2011 Summary Background and objectives Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na+-Cl− cotransporter (NCC). Despite meticulous sequencing of genomic DNA, approximately one-third of GS patients are negative or ...
Yi-Fen, Lo +9 more
openaire +4 more sources