Results 141 to 150 of about 6,819 (177)

Pregnancy complicated with Gitelman syndrome: A case report and literature review. [PDF]

Medicine (Baltimore)
Zhang L, Wu X, Li N, Huo F.
europepmc   +1 more source

Integration of genetic evidence to identify approved drug targets. [PDF]

Genome Med
Moix S, Sadler MC, Kutalik Z.
europepmc   +1 more source

Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians. [PDF]

Int J Mol Sci
Vecino-Pérez M, García-Murias M, Carrera N, Pedrosa P, García-González MÁ.   +4 more
europepmc   +1 more source

Higher Expression of miR-155 and miR-103 in Patients with Gitelman Syndrome: Potential Implications for Angiotensin II-Induced Cardiovascular Remodeling in Hypertension.

Kidney Blood Press Res
Cacciapuoti M, Caputo I, Driussi G, Davis PA, Nalesso F, Calò LA.   +5 more
europepmc   +1 more source

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   +4 more sources

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Novel SLC12A3 mutation in Gitelman syndrome

BMJ Case Reports, 2021
Gitelman 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, Luís Leite de Sousa, Tiago J Carvalho, Pedro Fidalgo   +3 more
openaire   +2 more sources

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
exaly   +3 more sources

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. The symptoms, laboratory results, management, and genotypes were analyzed.
Feng Wang, Manli Guo, Jing Li, Shaogang Ma   +3 more
openaire   +2 more sources