Publications:

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

Biomedicines

Lin, Shiuan-Chen SC; Ma, Chun C; Chang, Kao-Jung KJ; Cheong, Han-Ping HP; Lee, Ming-Cheng MC; Lan, Yuan-Tzu YT; Wang, Chien-Ying CY; Chiou, Shih-Hwa SH; Huo, Teh-Ia TI; Hsu, Tsui-Kang TK; Tsai, Ping-Hsing PH; Yang, Yi-Ping YP

Publication Date: 2022-09-02

Variant appearance in text: WNK4: E562K

PubMed Link: 36140271

Variant Present in the following documents:

• Main text
• biomedicines-10-02169.pdf

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

The Biochemical Journal

Chen, Zhuoyao Z; Zhang, Jinwei J; Murillo-de-Ozores, Adrián R AR; Castañeda-Bueno, María M; D'Amico, Francesca F; Heilig, Raphael R; Manning, Charlotte E CE; Sorrell, Fiona J FJ; D'Angiolella, Vincenzo V; Fischer, Roman R; Mulder, Monique P C MPC; Gamba, Gerardo G; Alessi, Dario R DR; Bullock, Alex N AN

Publication Date: 2022-03-18

Variant appearance in text: WNK4: E562K

PubMed Link: 35179207

Variant Present in the following documents:

• Main text
• BCJ-479-661.pdf

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Crosstalk between phosphorylation and ubiquitination is involved in high salt-induced WNK4 expression.

Experimental And Therapeutic Medicine

Zhao, Xiaoyue X; Lai, Guangrui G; Tu, Jianqiao J; Liu, Shuchang S; Zhao, Yanyan Y

Publication Date: 2021-02

Variant appearance in text: WNK4: E562K

PubMed Link: 33376515

Variant Present in the following documents:

• Main text

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The Molecular Genetics of Gordon Syndrome.

Genes

Mabillard, Holly H; Sayer, John A JA

Publication Date: 2019-11-29

Variant appearance in text: WNK4: E562K

PubMed Link: 31795491

Variant Present in the following documents:

• Main text
• genes-10-00986.pdf

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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.

Biochemistry

Wang, Lingyun L; Jiang, Chen C; Cai, Ruiqi R; Chen, Xing-Zhen XZ; Peng, Ji-Bin JB

Publication Date: 2019-04-23

Variant appearance in text: WNK4: E562K

PubMed Link: 30931564

Variant Present in the following documents:

• Main text

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: WNK4: E562K; rs137853093

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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

Scientific Reports

Maruyama, Junichi J; Kobayashi, Yumie Y; Umeda, Tsuyoshi T; Vandewalle, Alain A; Takeda, Kohsuke K; Ichijo, Hidenori H; Naguro, Isao I

Publication Date: 2016-01-06

Variant appearance in text: WNK4: E562K

PubMed Link: 26732173

Variant Present in the following documents:

• Main text
• srep18710.pdf

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

Biochemical And Biophysical Research Communications

Zhang, Chong C; Meermeier, Nicholas P NP; Terker, Andrew S AS; Blankenstein, Katharina I KI; Singer, Jeffrey D JD; Hadchouel, Juliette J; Ellison, David H DH; Yang, Chao-Ling CL

Publication Date: 2016-01-01

Variant appearance in text: WNK4: E562K

PubMed Link: 26607111

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: WNK4: E562K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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

American Journal Of Physiology. Cell Physiology

Bazúa-Valenti, Silvana S; Gamba, Gerardo G

Publication Date: 2015-05-15

Variant appearance in text: WNK4: E562K

PubMed Link: 25788573

Variant Present in the following documents:

• Main text

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Distal convoluted tubule.

Comprehensive Physiology

McCormick, James A JA; Ellison, David H DH

Publication Date: 2015-01

Variant appearance in text: WNK4: E562K

PubMed Link: 25589264

Variant Present in the following documents:

• Main text

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

The Biochemical Journal

Schumacher, Frances-Rose FR; Sorrell, Fiona J FJ; Alessi, Dario R DR; Bullock, Alex N AN; Kurz, Thimo T

Publication Date: 2014-06-01

Variant appearance in text: WNK4: E562K

PubMed Link: 24641320

Variant Present in the following documents:

• Main text

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

Clinical Science (London, England : 1979)

Glover, Mark M; Ware, James S JS; Henry, Amanda A; Wolley, Martin M; Walsh, Roddy R; Wain, Louise V LV; Xu, Shengxin S; Van't Hoff, William G WG; Tobin, Martin D MD; Hall, Ian P IP; Cook, Stuart S; Gordon, Richard D RD; Stowasser, Michael M; O'Shaughnessy, Kevin M KM

Publication Date: 2014-05

Variant appearance in text: WNK4: E562K

PubMed Link: 24266877

Variant Present in the following documents:

• Main text
• cs1260721.pdf

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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.

The Biochemical Journal

Ohta, Akihito A; Schumacher, Frances-Rose FR; Mehellou, Youcef Y; Johnson, Clare C; Knebel, Axel A; Macartney, Thomas J TJ; Wood, Nicola T NT; Alessi, Dario R DR; Kurz, Thimo T

Publication Date: 2013-04-01

Variant appearance in text: WNK4: E562K

PubMed Link: 23387299

Variant Present in the following documents:

• Main text
• bj4510111.pdf

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

American Journal Of Physiology. Renal Physiology

Na, Tao T; Wu, Guojin G; Zhang, Wei W; Dong, Wen-Ji WJ; Peng, Ji-Bin JB

Publication Date: 2013-01-01

Variant appearance in text: WNK4: E562K

PubMed Link: 23054253

Variant Present in the following documents:

• Main text

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

Biochemical And Biophysical Research Communications

Na, Tao T; Wu, Guojin G; Peng, Ji-Bin JB

Publication Date: 2012-03-09

Variant appearance in text: WNK4: E562K

PubMed Link: 22342722

Variant Present in the following documents:

• Main text

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

American Journal Of Physiology. Renal Physiology

Zhou, Bo B; Wang, Dexuan D; Feng, Xiuyan X; Zhang, Yiqian Y; Wang, Yanhui Y; Zhuang, Jieqiu J; Zhang, Xuemei X; Chen, Guangping G; Delpire, Eric E; Gu, Dingying D; Cai, Hui H

Publication Date: 2012-03-01

Variant appearance in text: WNK4: E562K

PubMed Link: 22114204

Variant Present in the following documents:

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The thiazide-sensitive Na+-Cl- cotransporter: molecular biology, functional properties, and regulation by WNKs.

American Journal Of Physiology. Renal Physiology

Gamba, Gerardo G

Publication Date: 2009-10

Variant appearance in text: WNK4: E562K

PubMed Link: 19474192

Variant Present in the following documents:

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WNK kinases, renal ion transport and hypertension.

American Journal Of Nephrology

San-Cristobal, Pedro P; de los Heros, Paola P; Ponce-Coria, José J; Moreno, Erika E; Gamba, Gerardo G

Publication Date: 2008

Variant appearance in text: WNK4: E562K

PubMed Link: 18547946

Variant Present in the following documents:

• Main text

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Negative regulators of sodium transport in the kidney: key factors in understanding salt-sensitive hypertension?

The Journal Of Clinical Investigation

Rossier, Bernard C BC

Publication Date: 2003-04

Variant appearance in text: WNK4: E562K

PubMed Link: 12671041

Variant Present in the following documents:

• Main text

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Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wilson, Frederick H FH; Kahle, Kristopher T KT; Sabath, Ernesto E; Lalioti, Maria D MD; Rapson, Alicia K AK; Hoover, Robert S RS; Hebert, Steven C SC; Gamba, Gerardo G; Lifton, Richard P RP

Publication Date: 2003-01-21

Variant appearance in text: WNK4: E562K

PubMed Link: 12515852

Variant Present in the following documents:

• Main text

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