Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
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Gitelman syndromeRare independent mutations in renal salt handling genes contribute to blood pressure variationBartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndromeInterleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporterIdentification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.PharmGKB summary: Diuretics pathway, pharmacodynamics.Rare inherited kidney diseases: challenges, opportunities, and perspectives.Spectrum of mutations in Gitelman syndrome.Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndromeExonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.Gitelman's syndrome complicated by mild renal insufficiency and high anion gap acidosis; a rare presentation in a young female.Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report.Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like SyndromeHyperemesis Gravidarum in Undiagnosed Gitelman's SyndromePhosphorylation regulates NCC stability and transporter activity in vivoA novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.Gitelman syndrome-associated severe hypokalemia and hypomagnesemia: case report and review of the literature.Gitelman syndrome: pathophysiological and clinical aspects.Hypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCT.Parvalbumin: calcium and magnesium buffering in the distal nephron.Molecular insights from dysregulation of the thiazide-sensitive WNK/SPAK/NCC pathway in the kidney: Gordon syndrome and thiazide-induced hyponatraemia.Inherited disorders of renal hypomagnesaemia.Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.Clinical utility gene card for: Gitelman syndrome.A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.Gitelman's syndrome associated with chondrocalcinosis: a case report.Comment on Gitelman's syndrome: Rare presentation with growth retardation.New SLC12A3 disease causative mutation of Gitelman's syndrome.Gitelman syndrome: a rare life-threatening case of hypokalemic paralysis mimicking Guillain-Barré syndrome during pregnancy and review of the literature.Monomorphic Outflow Tract Ventricular Tachycardia: Unique Presenting Manifestation of Gitelman's Syndrome.Living with Gitelman disease: an insight into patients' daily experiences.Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.Hypokalaemic metabolic alkalosis resembing Gitelman syndrome with focal segmental glomerulosclerosis.Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg(2+) handling.
P2860
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P2860
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Transcriptional and functional ...... ogenesis of Gitelman syndrome.
@en
Transcriptional and functional ...... ogenesis of Gitelman syndrome.
@nl
type
label
Transcriptional and functional ...... ogenesis of Gitelman syndrome.
@en
Transcriptional and functional ...... ogenesis of Gitelman syndrome.
@nl
prefLabel
Transcriptional and functional ...... ogenesis of Gitelman syndrome.
@en
Transcriptional and functional ...... ogenesis of Gitelman syndrome.
@nl
P2093
P356
P1476
Transcriptional and functional ...... ogenesis of Gitelman syndrome.
@en
P2093
Belgian Network for Study of Gitelman Syndrome
Eva Riveira-Munoz
Joost G Hoenderop
Karin Dahan
Nathalie Godefroid
Olivier Devuyst
Qing Chang
René J Bindels
P304
P356
10.1681/ASN.2006101095
P577
2007-02-28T00:00:00Z