Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. - Wikidata - awgldk - TriplyDB

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

http://www.wikidata.org/entity/Q27693302

about

Regulation of NKCC2 activity by inhibitory SPAK isoforms: KS-SPAK is a more potent inhibitor than SPAK2 Rare mutations in renal sodium and potassium transporter genes exhibit impaired transport function.Developmental changes in renal tubular transport-an overview.Genetic causes of hypomagnesemia, a clinical overview PharmGKB summary: Diuretics pathway, pharmacodynamics.Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome.Flufenamic acid as an ion channel modulator.Rare inherited kidney diseases: challenges, opportunities, and perspectives.Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications.Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels.A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.Effects of MEK inhibitors GSK1120212 and PD0325901 in vivo using 10-plex quantitative proteomics and phosphoproteomics.Molecular physiology of SPAK and OSR1: two Ste20-related protein kinases regulating ion transport.Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.Associations of Urinary Uromodulin with Clinical Characteristics and Markers of Tubular Function in the General Population.Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.Antenatal bartter syndrome: a review.The molecular basis of blood pressure variation.Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.Vasopressin regulation of sodium transport in the distal nephron and collecting duct.Pathophysiology and clinical presentations of salt-losing tubulopathies.Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome.Urinary proteomics for the study of genetic kidney diseases.Potassium regulation in the neonate.Dynamic coupling between TRPV4 and Ca2+-activated SK1/3 and IK1 K+ channels plays a critical role in regulating the K+-secretory BK channel in kidney collecting duct cells.Demonstration of the functional impact of vasopressin signaling in the thick ascending limb by a targeted transgenic rat approach.Paradoxical hypertension and salt wasting in Type II Bartter syndrome SPAK and OSR1 play essential roles in potassium homeostasis through actions on the distal convoluted tubule.Gitelman syndrome in an infant.Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.Unusual Complication of Multidrug Resistant Tuberculosis.Acetyl salicylic acid treatment in neonatal Bartter syndrome--a commentary letter.Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.

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Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

http://www.wikidata.org/entity/Q27693302

description

2011 nî lūn-bûn

@nan

2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@ast

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@en

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@nl

type

label

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@ast

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@en

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@nl

prefLabel

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@ast

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@en

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@nl

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Pediatric Nephrology

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Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

@en

P2093

Schlingmann KP

http://www.w3.org/2001/XMLSchema#string

Seyberth HW

http://www.w3.org/2001/XMLSchema#string

P2860

Gitelman syndrome

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

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Gitelman syndrome

genitourinary system

Bartter disease

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3163795

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