Results 111 to 120 of about 7,332 (203)
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report
World Journal of Clinical Cases, 2019 To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype.The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing
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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 +10 more
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Research Analysis of SLC12A3 Gene Mutation and Molecular Mechanism in Gitelman Syndrome
罕见病研究ObjectiveThis study aimed at conducting retrospective analysis of the clinical symptoms and genetic mutations in 20 children with Gitelman syndrome treated at the Affiliated Children′s Hospital of Nanjing Medical University from August 2015 to November ...
WANG Chunli +6 more
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A comprehensive analysis of gene expression profiles in distal parts of the mouse renal tubule [PDF]
, 2018 The distal parts of the renal tubule play a critical role in maintaining homeostasis of extracellular fluids. In this review, we present an in-depth analysis of microarray-based gene expression profiles available for microdissected mouse distal nephron ...
Bonny, Olivier +4 more
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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
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Metabolic syndrome and the risk of calcium stones [PDF]
, 2017 Sakhaee et al in this issue have investigated whether the risk of the common calcium nephrolithiasis is associated with the metabolic syndrome (MS).
Adams-Huet, Beverley +6 more
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A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene
Nefrología (English Edition), 2016 Hypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome.A 26-year-old man was admitted to the hospital due to syncope with general and muscular weakness and muscle cramps. The patient's history revealed previous recurrent syncope events associated to hypokalaemia with the lowest serum ...
Wojciech Wolyniec +7 more
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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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Contribution of the sympathetic nervous system to the pathogenesis of salt-sensitive hypertension [PDF]
, 2016 Dysregulation of the sodium-chloride cotransporter (NCC) is believed to significantly impact blood pressure. Recent studies have implicated overactivity of the sympathetic nervous system as a mechanism driving renal NCC dysregulation to evoke the ...
Pazzol, Michael Lee
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