Varaico: Literature-Extracted Genetic Variants

Gene:WNK4
Variant:p.R1185C
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WNK4

NM_032387.5:p.R1185C

Associated Papers

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

Wang L et al.

Biochemical and Biophysical Research Communications, 2023

The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.

Lin SC et al.

Biomedicines, 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

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

Physiological Processes Modulated by the Chloride-Sensitive WNK-SPAK/OSR1 Kinase Signaling Pathway and the Cation-Coupled Chloride Cotransporters.

Murillo-de-Ozores AR et al.

Frontiers in Physiology, 2020

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2C

WNK signalling pathways in blood pressure regulation.

Murthy M et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study.

Wang L et al.

Protein Science : a Publication of the Protein Society, 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

Disorders of aldosterone synthesis, secretion, and cellular function.

Root AW

Current Opinion in Pediatrics, 2014

Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation.

Wu G et al.

Febs Letters, 2013

WNK4 is an essential effector of anterior formation in FGF signaling.

Shimizu M et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 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

WNK4 inhibits NCC protein expression through MAPK ERK1/2 signaling pathway.

Zhou B et al.

American Journal of Physiology. Renal Physiology, 2012

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

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

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

WNK4 kinase regulates surface expression of the human sodium chloride cotransporter in mammalian cells.

Cai H et al.

Kidney International, 2006

Cellular mechanisms of WNK4-mediated regulation of ion transport proteins in the distal tubule.

Peng JB et al.

Kidney International, 2006

[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

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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."