Association mapping from sequencing reads using k-mers [PDF]
, 2018 Genome wide association studies (GWAS) rely on microarrays, or more recently mapping of sequencing reads, to genotype individuals. The reliance on prior sequencing of a reference genome limits the scope of association studies, and also precludes mapping ...
Eisen, Michael +3 more
core +1 more source
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
core +1 more source
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients [PDF]
, 2015 core +1 more source
Molecular bases of circadian rhythmicity in renal physiology and pathology [PDF]
, 2017 The physiological processes that maintain body homeostasis oscillate during the day. Diurnal changes characterize kidney functions, comprising regulation of hydro-electrolytic and acid-base balance, reabsorption of small solutes and hormone production ...
Bonny, Olivier +3 more
core
Therapeutics and Clinical Risk Management, 2018 Cristina Gug,1 Adelina Mihaescu,2 Ioana Mozos3,4 1Department of Microscopic Morphology, 22nd Department of Internal Medicine, 3Department of Functional Sciences, 4Center for Translational Research and Systems Medicine, “Victor Babes&rdquo ...
Gug C, Mihaescu A, Mozos I
doaj
The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review. [PDF]
BMC NephrolMa F +5 more
europepmc +1 more source
Genome-wide association and functional follow-up reveals new loci for kidney function [PDF]
, 2012 Borecki, Ingrid +5 more
core +1 more source
Novel nonsense mutation in the SLC12A3 gene in a Spanish case of Gitelman syndrome
Nefrología (English Edition), 2019 Roca-Argente, L +3 more
openaire +2 more sources
Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan
Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern JapanGitelman’s syndrome （GS） is considered to be a rare disorder. To assess the prevalence of GS in the Japanese general population and the relationships between mutations of related genes and blood pressure, we performed mutational analysis of the SLC12A3 gene on 1,567 subjects from Aomori Prefecture in northern Japan.
openaire
A novel variant of <i>SLC12A3</i> in Gitelman syndrome with hypertension: a case report. [PDF]
AME Case RepZhang Y +5 more
europepmc +1 more source