Varaico: Literature-Extracted Genetic Variants

Gene:WNK4
Variant:p.Q565E
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WNK4

NM_032387.5:p.Q565E

Associated Papers

Familial Hyperkalemic Hypertension.

Cornelius RJ et al.

Comprehensive Physiology, 2024

Association of Familial Hyperkalemia and Hypertension with Proximal Renal Tubular Acidosis and Epileptic Seizures.

Shirin N et al.

Nephron, 2024

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

Sharma P et al.

Cell Communication and Signaling : Ccs, 2023

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

Peces R et al.

Genes, 2023

Gordon's syndrome in pregnancy.

Morton A

Obstetric Medicine, 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

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

Lin SC et al.

Biomedicines, 2022

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

Chen Z et al.

The Biochemical Journal, 2022

WNK4 kinase: from structure to physiology.

Murillo-de-Ozores AR et al.

American Journal of Physiology. Renal Physiology, 2021

The sodium/proton exchanger NHA2 regulates blood pressure through a WNK4-NCC dependent pathway in the kidney.

Anderegg MA et al.

Kidney International, 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

Hypertension Accompanied by Hyperaldosteronism, Hyperkalemia, and Hyperchloremic Acidosis: A Case Report and Literature Review.

Yang Y et al.

Case Reports in Endocrinology, 2020

The Molecular Genetics of Gordon Syndrome.

Mabillard H et al.

Genes, 2019

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

Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment.

Wang Q et al.

Chinese Medical Journal, 2018

WNK signalling pathways in blood pressure regulation.

Murthy M et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Familial Hyperkalemia and Hypertension (FHHt) and KLHL3: Description of a Family with a New Recessive Mutation (S553L) Compared to a Family with a Dominant Mutation, Q309R, with Analysis of Urinary Sodium Chloride Cotransporter.

Kliuk-Ben Bassat O et al.

Nephron, 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

Hypercalciuria in familial hyperkalemia and hypertension with KLHL3 mutations.

Mayan H et al.

Nephron, 2015

Comprehensive assessment of the association of WNK4 polymorphisms with hypertension: evidence from a meta-analysis.

Guo XG et al.

Scientific Reports, 2014

Disorders of aldosterone synthesis, secretion, and cellular function.

Root AW

Current Opinion in Pediatrics, 2014

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

Schumacher FR et al.

The Biochemical Journal, 2014

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

Glover M et al.

Clinical Science (london, England : 1979), 2014

TRPV5: a Ca(2+) channel for the fine-tuning of Ca(2+) reabsorption.

Na T et al.

Handbook of Experimental Pharmacology, 2014

A molecular update on pseudohypoaldosteronism type II.

Pathare G et al.

American Journal of Physiology. Renal Physiology, 2013

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

An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II).

Chowdhury JA et al.

Clinical Science (london, England : 1979), 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

Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension.

Wakabayashi M et al.

Cell Reports, 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

Effect of age and affection status on blood pressure, serum potassium and stature in familial hyperkalaemia and hypertension.

Farfel A et al.

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

The WNKs: atypical protein kinases with pleiotropic actions.

McCormick JA et al.

Physiological Reviews, 2011

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

Zhang C et al.

Nephron. Physiology, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

[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

Hereditary tubular transport disorders: implications for renal handling of Ca2+ and Mg2+.

Dimke H et al.

Clinical Science (london, England : 1979), 2009

Familial hyperkalemia and hypertension: pathogenetic insights based on lithium clearance.

Mayan H et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

WNK4 polymorphisms and essential hypertension in the Uyghur population.

Lu M et al.

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

Mechanism of regulation of renal ion transport by WNK kinases.

Huang CL et al.

Current Opinion in Nephrology and Hypertension, 2008

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

Gong H et al.

Endocrine, 2008

Distinct pathways for the involvement of WNK4 in the signaling of hypertonicity and EGF.

Shaharabany M et al.

The Febs Journal, 2008

Increased urinary Na-Cl cotransporter protein in familial hyperkalaemia and hypertension.

Mayan H et al.

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

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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."