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Novel SLC12A3 mutation in Gitelman syndrome
BMJ Case Reports, 2021Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1–10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only diagnosed in adulthood.
Rita Veríssimo +3 more
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Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree [PDF]
Genes, 2021 Gitelman syndrome (GS) and Bartter syndrome (BS) type III are both rare, recessively inherited salt-losing tubulopathies caused by SLC12A3 and CLCNKB mutations, respectively. We described a 48-year-old male patient with fatigue, carpopedal spasm, arthralgia, hypokalemic alkalosis, mild renal dysfunction, hypomagnesemia, hypocalciuria, hyperuricemia ...
Mou, Lijun, Wu, Fengfen
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R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome
Frontiers of Medicine, 2022The dysfunction of Na+-Cl- cotransporter (NCC) caused by mutations in solute carrier family12, member 3 gene (SLC12A3) primarily causes Gitelman syndrome (GS). In identifying the pathogenicity of R158Q and G212S variants of SLC12A3, we evaluated the pathogenicity by bioinformatic, expression, and localization analysis of two variants from a patient in ...
Jiajun Zhao
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Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome [PDF]
Clinical Journal of the American Society of Nephrology: CJASN, 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 ...
Kandai Nozu, Min-hua Tseng, Shih-Hua Lin
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Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome
Scandinavian Journal of Clinical and Laboratory Investigation, 2021Mutations 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. The symptoms, laboratory results, management, and genotypes were analyzed.
Feng Wang +3 more
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Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome
Clinical Endocrinology, 2022AbstractObjectiveGitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide‐sensitive sodium‐chloride cotransporter (NCC). To date, more than 500 mutations have been identified in the SLC12A3 gene.
Qiao Ying +8 more
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Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome
Clinical Nephrology, 2021As the most frequent inherited tubulopathy, Gitelman syndrome (GS), has an incidence that has increased worldwide. The distribution of SLC12A3 gene mutation hotspots deserves exploration. In addition, GS is not a benign syndrome; however, the diagnostic process of GS has not yet been completely detailed.We report two cases of GS pedigrees involving two
Xinyi, Zheng +4 more
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