Salt handling in the distal nephron: lessons learned from inherited human disorders. - Wikidata - awgldk - TriplyDB

Salt handling in the distal nephron: lessons learned from inherited human disorders.

Salt handling in the distal nephron: lessons learned from inherited human disorders.

http://www.wikidata.org/entity/Q36081267

about

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.Adenylyl cyclase 6 enhances NKCC2 expression and mediates vasopressin-induced phosphorylation of NKCC2 and NCC Molecular pathophysiology of Bartter's and Gitelman's syndromes.Developmental changes in renal tubular transport-an overview.Genetic causes of hypomagnesemia, a clinical overview Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome.The population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus.A case of Bartter syndrome type I with atypical presentations.Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels.An improved terminology and classification of Bartter-like syndromes.Analysis of claudin genes in pediatric patients with Bartter's syndrome Regulation of magnesium balance: lessons learned from human genetic disease A serum potassium level above 10 mmol/l in a patient predisposed to hypokalemia.Beyond Ussing's chambers: contemporary thoughts on integration of transepithelial transport.Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.Female ROMK null mice manifest more severe Bartter II phenotype on renal function and higher PGE2 production.Whites excrete a water load more rapidly than blacks Uriniferous tubule: structural and functional organization.ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.Pathophysiology and clinical presentations of salt-losing tubulopathies.A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases.Expression of vascular endothelial growth factor (VEGF)-B and its receptor (VEGFR1) in murine heart, lung and kidney.A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2.Dissecting a regulatory calcium-binding site of CLC-K kidney chloride channels A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.Status epilepticus as the only presentation of the neonatal Bartter syndrome Molecular Pharmacology of Kidney and Inner Ear CLC-K Chloride Channels.Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel.Mouse model of type II Bartter's syndrome. II. Altered expression of renal sodium- and water-transporting proteins.Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.Antenatal Bartter's syndrome: why is this not a lethal condition?SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

P2860

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P2860

Salt handling in the distal nephron: lessons learned from inherited human disorders.

http://www.wikidata.org/entity/Q36081267

description

2005 nî lūn-bûn

@nan

2005年の論文

@ja

2005年学术文章

@wuu

2005年学术文章

@zh-cn

2005年学术文章

@zh-hans

2005年学术文章

@zh-my

2005年学术文章

@zh-sg

2005年學術文章

@yue

2005年學術文章

@zh

2005年學術文章

@zh-hant

name

Salt handling in the distal nephron: lessons learned from inherited human disorders.

@ast

Salt handling in the distal nephron: lessons learned from inherited human disorders.

@en

type

label

Salt handling in the distal nephron: lessons learned from inherited human disorders.

@ast

Salt handling in the distal nephron: lessons learned from inherited human disorders.

@en

prefLabel

Salt handling in the distal nephron: lessons learned from inherited human disorders.

@ast

Salt handling in the distal nephron: lessons learned from inherited human disorders.

@en

P1433

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P356

AJPREGU.00600.2004

P1433

American Journal of Physiology - Regulatory, Integrative and Comparative Physiology

P1476

Salt handling in the distal nephron: lessons learned from inherited human disorders

@en

P2093

Hannsjörg W Seyberth

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

Karl P Schlingmann

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

Melanie Peters

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

Nikola Jeck

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

Siegfried Waldegger

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

Stephan C Reinalter

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

P2860

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

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

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity

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

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

A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity

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

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

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R782-95

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scholarly article

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10.1152/AJPREGU.00600.2004

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4

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288

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Martin Kömhoff

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2005-04-01T00:00:00Z

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15793031

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