KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
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Nedd4-2 and the regulation of epithelial sodium transportUpdate on the Kelch-like (KLHL) gene familyUbiquitylation and control of renal Na+ balance and blood pressureA molecular update on pseudohypoaldosteronism type IIProtein trafficking defects in inherited kidney diseasesGenetic linkage analysis in the age of whole-genome sequencingStructural and biochemical characterization of the KLHL3–WNK kinase interaction important in blood pressure regulationKelch proteins: emerging roles in skeletal muscle development and diseases.Disease-causing mutations in KLHL3 impair its effect on WNK4 degradationMonoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin FragilityCell-fate determination by ubiquitin-dependent regulation of translationEmerging Targets of Diuretic Therapy.Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterpartsNaCl cotransporter abundance in urinary vesicles is increased by calcineurin inhibitors and predicts thiazide sensitivity.Mechanism and synergism in epithelial fluid and electrolyte secretion.Developmental changes in renal tubular transport-an overview.Sympathetic stimulation of thiazide-sensitive sodium chloride cotransport in the generation of salt-sensitive hypertension.Regulation of with-no-lysine kinase signaling by Kelch-like proteins.Renal tubular NEDD4-2 deficiency causes NCC-mediated salt-dependent hypertensionThe promise of whole-exome sequencing in medical genetics.WNK4 is the major WNK positively regulating NCC in the mouse kidneyAngiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradationDistal convoluted tubuleCrystal structure of KLHL3 in complex with Cullin3Transcriptome analysis of newt lens regeneration reveals distinct gradients in gene expression patterns.A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3.SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation.SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3KLHL3 regulates paracellular chloride transport in the kidney by ubiquitination of claudin-8.Aldosterone modulates thiazide-sensitive sodium chloride cotransporter abundance via DUSP6-mediated ERK1/2 signaling pathway.Critical role of the SPAK protein kinase CCT domain in controlling blood pressureInfluence of Smoking Status and Intensity on Discovery of Blood Pressure Loci Through Gene-Smoking InteractionsKelch-Like Protein 2 Mediates Angiotensin II-With No Lysine 3 Signaling in the Regulation of Vascular Tonus.A unifying mechanism for WNK kinase regulation of sodium-chloride cotransporterCharacterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.Towards the Development of Small-Molecule MO25 Binders as Potential Indirect SPAK/OSR1 Kinase Inhibitors.Cullin-3 regulates vascular smooth muscle function and arterial blood pressure via PPARγ and RhoA/Rho-kinase.Cell-specific regulation of L-WNK1 by dietary K.Regulation of the renal Na+-Cl- cotransporter by phosphorylation and ubiquitylation.
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P2860
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
KLHL3 mutations cause familial ...... ransport in the distal nephron
@ast
KLHL3 mutations cause familial ...... ransport in the distal nephron
@en
KLHL3 mutations cause familial ...... ransport in the distal nephron
@en-gb
KLHL3 mutations cause familial ...... ransport in the distal nephron
@nl
type
label
KLHL3 mutations cause familial ...... ransport in the distal nephron
@ast
KLHL3 mutations cause familial ...... ransport in the distal nephron
@en
KLHL3 mutations cause familial ...... ransport in the distal nephron
@en-gb
KLHL3 mutations cause familial ...... ransport in the distal nephron
@nl
prefLabel
KLHL3 mutations cause familial ...... ransport in the distal nephron
@ast
KLHL3 mutations cause familial ...... ransport in the distal nephron
@en
KLHL3 mutations cause familial ...... ransport in the distal nephron
@en-gb
KLHL3 mutations cause familial ...... ransport in the distal nephron
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
KLHL3 mutations cause familial ...... ransport in the distal nephron
@en
P2093
Béatrice Fiquet
Chantal Mandet
Chebel Mourani
Christel Thauvin
Christelle Soukaseum
Christophe Simian
Françoise Broux
Geneviève Beaurain
Georg Ehret
Hélène Louis-Dit-Picard
P2860
P2888
P304
456-60, S1-3
P3181
P356
10.1038/NG.2218
P407
P50
P577
2012-04-01T00:00:00Z
P5875
P6179
1050920050