Varaico: Literature-Extracted Genetic Variants

Gene:WNK4
Variant:p.D564A
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WNK4

NM_032387.5:p.D564A

Associated Papers

Familial Hyperkalemic Hypertension.

Cornelius RJ et al.

Comprehensive Physiology, 2024

Expression of the kidney anion exchanger 1 affects WNK4 and SPAK phosphorylation and results in claudin-4 phosphorylation.

Lashhab R et al.

Heliyon, 2023

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.

Sharma P et al.

Cell Communication and Signaling : Ccs, 2023

Identification of a novel KLHL3-interacting motif in the C-terminal region of WNK4.

Wang L et al.

Biochemical and Biophysical Research Communications, 2023

Sequence and structural variations determining the recruitment of WNK kinases to the KLHL3 E3 ligase.

Chen Z et al.

The Biochemical Journal, 2022

NCC regulation by WNK signal cascade.

Uchida S et al.

Frontiers in Physiology, 2022

WNK4 kinase: from structure to physiology.

Murillo-de-Ozores AR et al.

American Journal of Physiology. Renal Physiology, 2021

Investigating specificity of the anti-hypertensive inhibitor WNK463 against With-No-Lysine kinase family isoforms via multiscale simulations.

Jonniya NA et al.

Journal of Biomolecular Structure & Dynamics, 2020

A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.

Sakoh T et al.

Molecular Genetics & Genomic Medicine, 2019

Unveiling the Distinct Mechanisms by which Disease-Causing Mutations in the Kelch Domain of KLHL3 Disrupt the Interaction with the Acidic Motif of WNK4 through Molecular Dynamics Simulation.

Wang L et al.

Biochemistry, 2019

WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3.

Susa K et al.

Biochemical and Biophysical Research Communications, 2017

WNK signalling pathways in blood pressure regulation.

Murthy M et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Kelch-like 3/Cullin 3 ubiquitin ligase complex and WNK signaling in salt-sensitive hypertension and electrolyte disorder.

Sohara E et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016

Osmotic stress induces the phosphorylation of WNK4 Ser575 via the p38MAPK-MK pathway.

Maruyama J et al.

Scientific Reports, 2016

Degradation by Cullin 3 and effect on WNK kinases suggest a role of KLHL2 in the pathogenesis of Familial Hyperkalemic Hypertension.

Zhang C et al.

Biochemical and Biophysical Research Communications, 2016

Revisiting the NaCl cotransporter regulation by with-no-lysine kinases.

Bazúa-Valenti S et al.

American Journal of Physiology. Cell Physiology, 2015

Regulation of blood pressure and renal electrolyte balance by Cullin-RING ligases.

Uchida S

Current Opinion in Nephrology and Hypertension, 2014

Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation.

Schumacher FR et al.

The Biochemical Journal, 2014

Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurement.

Isobe K et al.

American Journal of Physiology. Renal Physiology, 2013

Decrease of WNK4 ubiquitination by disease-causing mutations of KLHL3 through different molecular mechanisms.

Mori Y et al.

Biochemical and Biophysical Research Communications, 2013

The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.

Ohta A et al.

The Biochemical Journal, 2013

Disease-causing R1185C mutation of WNK4 disrupts a regulatory mechanism involving calmodulin binding and SGK1 phosphorylation sites.

Na T et al.

American Journal of Physiology. Renal Physiology, 2013

Disease-causing mutations in the acidic motif of WNK4 impair the sensitivity of WNK4 kinase to calcium ions.

Na T et al.

Biochemical and Biophysical Research Communications, 2012

Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade.

Chiga M et al.

Journal of Cell Science, 2011

A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population.

Mendes AI et al.

Molecular Genetics and Metabolism, 2011

Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II.

Zhang C et al.

Nephron. Physiology, 2011

Pathophysiological roles of WNK kinases in the kidney.

Uchida S

Pflugers Archiv : European Journal of Physiology, 2010

[Study on the association between genetic polymorphism on WNK4 genes and essential hypertension among Kazakhs ethnic population, in Xinjiang].

Cao FF et al.

Zhonghua Liu Xing Bing Xue Za Zhi = Zhonghua Liuxingbingxue Zazhi, 2010

WNK4 polymorphisms and essential hypertension in the Uyghur population.

Lu M et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2009

A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene.

Gong H et al.

Endocrine, 2008

WNK kinases, renal ion transport and hypertension.

San-Cristobal P et al.

American Journal of Nephrology, 2008

Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model.

Yang SS et al.

Cell Metabolism, 2007

WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4.

Jiang Y et al.

American Journal of Physiology. Renal Physiology, 2007

Apical localization of renal K channel was not altered in mutant WNK4 transgenic mice.

Yamauchi K et al.

Biochemical and Biophysical Research Communications, 2005

Regulation of apical localization of the thiazide-sensitive NaCl cotransporter by WNK4 in polarized epithelial cells.

Yang SS et al.

Biochemical and Biophysical Research Communications, 2005

WNK kinases and the control of blood pressure.

Cope G et al.

Pharmacology & Therapeutics, 2005

Role of WNK kinases in regulating tubular salt and potassium transport and in the development of hypertension.

Gamba G

American Journal of Physiology. Renal Physiology, 2005

[WNK1 and WNK4, new players in salt and water homeostasis].

Hadchouel J et al.

Medecine Sciences : M/s, 2005

Three novel missense mutations of WNK4, a kinase mutated in inherited hypertension, in Japanese hypertensives: implication of clinical phenotypes.

Kamide K et al.

American Journal of Hypertension, 2004

Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins.

Yamauchi K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."