Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. - Wikidata - wikimedia - TriplyDB

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

http://www.wikidata.org/entity/Q48799866

about

Gitelman syndrome Rare independent mutations in renal salt handling genes contribute to blood pressure variation Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter Identification 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 syndrome Exonic 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 Syndrome Hyperemesis Gravidarum in Undiagnosed Gitelman's Syndrome Phosphorylation regulates NCC stability and transporter activity in vivo A 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.

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Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

http://www.wikidata.org/entity/Q48799866

description

2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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2007年學術文章

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Transcriptional and functional ...... ogenesis of Gitelman syndrome.

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Transcriptional and functional ...... ogenesis of Gitelman syndrome.

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Transcriptional and functional ...... ogenesis of Gitelman syndrome.

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Transcriptional and functional ...... ogenesis of Gitelman syndrome.

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Transcriptional and functional ...... ogenesis of Gitelman syndrome.

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Transcriptional and functional ...... ogenesis of Gitelman syndrome.

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Journal of the American Society of Nephrology

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Transcriptional and functional ...... ogenesis of Gitelman syndrome.

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Belgian Network for Study of Gitelman Syndrome

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Eva Riveira-Munoz

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Joost G Hoenderop

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Karin Dahan

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Nathalie Godefroid

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Olivier Devuyst

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Qing Chang

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René J Bindels

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1271-1283

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scholarly article

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10.1681/ASN.2006101095

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