Results 121 to 130 of about 7,281,051 (191)
, 2021 Gitelman syndrome (GS) is a kind of salt-losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which exonic variants disrupt normal pre-mRNA splicing, has been related to a variety of diseases.
Xiaomeng Shi +9 more
openaire +1 more source
Evaluación de la contribución del factor de transcripción hand2 en la morfogénesis del pronefros durante el desarrollo en pez Cebra [PDF]
, 2014 Las enfermedades y problemas renales son más frecuentes en la actualidad. A nivel mundial, aproximadamente 1 de cada 1000 personas requieren un trasplante de riñón, y solo el 10% logra conseguirlo a tiempo.
Guio Vega, Gina Paola
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Gitelman Syndrome: a Сlinical and Molecular Overview
Počki, 2015 Gitelman syndrome (OMIM #263800) is an autosomal recessive renal tubular disorder due to loss of function mutations of SLC12A3 gene, encoding the thiazide-inhibitable, electroneutral Na+-Cl– cotransporter (NCC) of the distal convoluted tubule.
Maria Luisa Querques +3 more
doaj +1 more source
Living with Gitelman disease: an insight into patients' daily experiences [PDF]
, 2017 Background Gitelman disease presents with musculoskeletal complaints and fatigue. Surprisingly, there is no clear-cut correlation between biochemical abnormalities and symptoms.
Bettinelli, Alberto +5 more
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Frontiers in EndocrinologyBackgroundGitelman Syndrome (GS) patients frequently exhibit disrupted glucose metabolism, attributed to hypokalemia, hypomagnesemia and heightened aldosterone. This study delved into the genetic underpinnings linked to insulin resistance and diabetes in
Yaqi Yin +10 more
doaj +1 more source
Clinical and genetic features in 30 children with Gitelman syndrome
BMC NephrologyBackground Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder caused by SLC12A3 gene variants. This study aimed to retrospectively analyze the clinical and genetic characteristics of pediatric GS patients and validate the ...
Qian-qian Sheng +2 more
doaj +1 more source
Analysis of phenotype and genotype in 12 Chinese patients with Gitelman syndrome
Linchuang shenzangbing zazhi, 2022 ObjectiveTo explore the clinical and genetic characteristics of Chinese patients with Gitelman syndrome （GS） and take new evidence into further understanding of this disease.MethodsFrom January 2019 to December 2020，patients diagnosed as GS by clinical ...
Liu Tao +4 more
doaj
Consideration of the diagnosis of hypertension accompanied with hypokalaemia: monism or dualism?
Journal of International Medical Research, 2018 This case report describes a 53-year-old male patient with persistent hypertension and hypokalaemia. Laboratory tests showed that the patient had hypokalaemia, hypocalcaemia and reduced urine calcium/creatinine.
Qingguo Lü +7 more
doaj +1 more source
Genes for blood pressure: an opportunity to understand hypertension [PDF]
, 2017 Hypertension (HTN) is quantitatively the major cardiovascular risk factor and responsible for ∼50% of cardiovascular morbidity and mortality. Blood pressure (BP) is also a classical complex genetic trait with heritability estimates of 30-50%.
Caulfield, Mark J., Ehret, Georg B.
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Resequencing the whole MYH7 gene (including the intronic, promoter, and 3´ UTR sequences) in hypertrophic cardiomyopathy [PDF]
, 2012 MYH7 mutations are found in approximately 20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides resulting in omission of single exon ...
Alonso, Belén +13 more
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