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Select item 12871791.

A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension

Sandra Disse-Nicodème, Jean-Michel Achard, Isabelle Desitter, Anne-Marie Houot, Albert Fournier, Pierre Corvol, Xavier Jeunemaitre

Am J Hum Genet. 2000 Aug; 67(2): 302–310. Published online 2000 Jun 22. doi: 10.1086/303020

PMCID:: PMC1287179

Abstract Article PDF–569K

Select item 106066082.

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

Ramón Peces, Carlos Peces, Laura Espinosa, Rocío Mena, Carolina Blanco, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevado

Genes (Basel) 2023 Oct; 14(10): 1878. Published online 2023 Sep 27. doi: 10.3390/genes14101878

PMCID:: PMC10606608

Abstract Article PDF–919K

Select item 95080733.

WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway

Masahiro Shimizu, Hiroshi Shibuya

Sci Rep. 2022; 12: 15858. Published online 2022 Sep 23. doi: 10.1038/s41598-022-20271-y

PMCID:: PMC9508073

Abstract Article PDF–6.4M

Select item 93938314.

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life

Annika Etges, Nicole Hellmig, Gudrun Walenda, Bassam G. Haddad, Jan-Philipp Machtens, Thomas Morosan, Lars Christian Rump, Ute I. Scholl

Nephron Clin Pract. 2022 Jul; 146(4): 418–428. Published online 2022 Jan 28. doi: 10.1159/000521626

PMCID:: PMC9393831

Abstract Article

Select item 91698265.

UBR5 is a novel regulator of WNK1 stability

Ji-Ung Jung, Anwesha B. Ghosh, Svetlana Earnest, Staci L. Deaton, Melanie H. Cobb

Am J Physiol Cell Physiol. 2022 Jun 1; 322(6): C1176–C1186. Published online 2022 Apr 20. doi: 10.1152/ajpcell.00417.2021

PMCID:: PMC9169826

Abstract Article

Select item 90229956.

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

Zhuoyao Chen, Jinwei Zhang, Adrián R. Murillo-de-Ozores, María Castañeda-Bueno, Francesca D'Amico, Raphael Heilig, Charlotte E. Manning, Fiona J. Sorrell, Vincenzo D'Angiolella, Roman Fischer, Monique P. C. Mulder, Gerardo Gamba, Dario R. Alessi, Alex N. Bullock

Biochem J. 2022 Mar 18; 479(5): 661–675. Prepublished online 2022 Feb 18. Published online 2022 Mar 4. doi: 10.1042/BCJ20220019

PMCID:: PMC9022995

Abstract Article PDF–6.4M

Select item 81748097.

Role of KLHL3 and dietary K⁺ in regulating KS-WNK1 expression

Mauricio Ostrosky-Frid, María Chávez-Canales, Jinwei Zhang, Olena Andrukhova, Eduardo R. Argaiz, Fernando Lerdo-de-Tejada, Adrian Murillo-de-Ozores, Andrea Sanchez-Navarro, Lorena Rojas-Vega, Norma A. Bobadilla, Norma Vazquez, María Castañeda-Bueno, Dario R. Alessi, Gerardo Gamba

Am J Physiol Renal Physiol. 2021 May 1; 320(5): F734–F747. Published online 2021 Mar 8. doi: 10.1152/ajprenal.00575.2020

PMCID:: PMC8174809

Abstract Article

Select item 81412378.

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism

Rui Zhang, Simin Zhang, Yingying Luo, Meng Li, Xin Wen, Xiaoling Cai, Xueyao Han, Linong Ji

BMC Endocr Disord. 2021; 21: 103. Published online 2021 May 22. doi: 10.1186/s12902-021-00767-w

PMCID:: PMC8141237

Abstract Article PDF–657K

Select item 76857309.

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

Hélène Louis-Dit-Picard, Ilektra Kouranti, Chloé Rafael, Irmine Loisel-Ferreira, Maria Chavez-Canales, Waed Abdel-Khalek, Eduardo R. Argaiz, Stéphanie Baron, Sarah Vacle, Tiffany Migeon, Richard Coleman, Marcio Do Cruzeiro, Marguerite Hureaux, Nirubiah Thurairajasingam, Stéphane Decramer, Xavier Girerd, Kevin O’Shaugnessy, Paolo Mulatero, Gwenaëlle Roussey, Ivan Tack, Robert Unwin, Rosa Vargas-Poussou, Olivier Staub, Richard Grimm, Paul A. Welling, Gerardo Gamba, Eric Clauser, Juliette Hadchouel, Xavier Jeunemaitre

J Clin Invest. 2020 Dec 1; 130(12): 6379–6394. Published online 2020 Oct 26. doi: 10.1172/JCI94171

PMCID:: PMC7685730

Abstract Article PDF–4.5M

Select item 656554510.

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

Takashi Sakoh, Akinari Sekine, Takayasu Mori, Hiroki Mizuno, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Noriko Hayami, Masayuki Yamanouchi, Tatsuya Suwabe, Naoki Sawa, Yoshifumi Ubara, Takuya Fujimaru, Eisei Sohara, Uchida Shinichi, Junichi Hoshino, Kenmei Takaichi

Mol Genet Genomic Med. 2019 Jun; 7(6): e705. Published online 2019 May 1. doi: 10.1002/mgg3.705

PMCID:: PMC6565545

Abstract Article PDF–311K

Select item 641080211.

WNK4 kinase is a physiological intracellular chloride sensor

Jen-Chi Chen, Yi-Fen Lo, Ya-Wen Lin, Shih-Hua Lin, Chou-Long Huang, Chih-Jen Cheng

Proc Natl Acad Sci U S A. 2019 Mar 5; 116(10): 4502–4507. Published online 2019 Feb 14. doi: 10.1073/pnas.1817220116

PMCID:: PMC6410802

Abstract Article PDF–1.2M

Select item 603468412.

Glucocorticoid-induced leucine zipper protein regulates sodium and potassium balance in the distal nephron

Priyanka Rashmi, GianLuca Colussi, Michael Ng, Xinhao Wu, Atif Kidwai, David Pearce

Kidney Int. Author manuscript; available in PMC 2018 Jul 6.

Published in final edited form as: Kidney Int. 2017 May; 91(5): 1159–1177. Published online 2017 Jan 13. doi: 10.1016/j.kint.2016.10.038

PMCID:: PMC6034684

Abstract Article PDF–3.0M

Select item 600240113.

WNK1 regulates skeletal muscle cell hypertrophy by modulating the nuclear localization and transcriptional activity of FOXO4

Shintaro Mandai, Takayasu Mori, Naohiro Nomura, Taisuke Furusho, Yohei Arai, Hiroaki Kikuchi, Emi Sasaki, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida

Sci Rep. 2018; 8: 9101. Published online 2018 Jun 14. doi: 10.1038/s41598-018-27414-0

PMCID:: PMC6002401

Abstract Article PDF–4.9M

Select item 535942714.

KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3

Emi Sasaki, Koichiro Susa, Takayasu Mori, Kiyoshi Isobe, Yuya Araki, Yuichi Inoue, Yuki Yoshizaki, Fumiaki Ando, Yutaro Mori, Shintaro Mandai, Moko Zeniya, Daiei Takahashi, Naohiro Nomura, Tatemitsu Rai, Shinichi Uchida, Eisei Sohara

Mol Cell Biol. 2017 Apr 1; 37(7): e00508-16. Prepublished online 2017 Jan 4. Published online 2017 Mar 17. doi: 10.1128/MCB.00508-16

PMCID:: PMC5359427

Abstract Article PDF–2.0M

Select item 496714015.

With no lysine L-WNK1 isoforms are negative regulators of the K⁺-Cl⁻ cotransporters

Adriana Mercado, Paola de los Heros, Zesergio Melo, María Chávez-Canales, Adrián R. Murillo-de-Ozores, Erika Moreno, Silvana Bazúa-Valenti, Norma Vázquez, Juliette Hadchouel, Gerardo Gamba

Am J Physiol Cell Physiol. 2016 Jul 1; 311(1): C54–C66. Published online 2016 May 11. doi: 10.1152/ajpcell.00193.2015

PMCID:: PMC4967140

Abstract Article

Select item 467580116.

Cell-specific regulation of L-WNK1 by dietary K⁺

Tennille N. Webb, Rolando Carrisoza-Gaytan, Nicolas Montalbetti, Anna Rued, Ankita Roy, Alexandra M. Socovich, Arohan R. Subramanya, Lisa M. Satlin, Thomas R. Kleyman, Marcelo D. Carattino

Am J Physiol Renal Physiol. 2016 Jan 1; 310(1): F15–F26. Published online 2015 Oct 14. doi: 10.1152/ajprenal.00226.2015

PMCID:: PMC4675801

Abstract Article

Select item 460192617.

A unifying mechanism for WNK kinase regulation of sodium-chloride cotransporter

Chou-Long Huang, Chih-Jen Cheng

Pflugers Arch. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Pflugers Arch. 2015 Nov; 467(11): 2235–2241. Published online 2015 Apr 24. doi: 10.1007/s00424-015-1708-2

PMCID:: PMC4601926

Abstract Article PDF–732K

Select item 434725418.

Hyperkalemic hypertension–associated cullin 3 promotes WNK signaling by degrading KLHL3

James A. McCormick, Chao-Ling Yang, Chong Zhang, Brittney Davidge, Katharina I. Blankenstein, Andrew S. Terker, Bethzaida Yarbrough, Nicholas P. Meermeier, Hae J. Park, Belinda McCully, Mark West, Aljona Borschewski, Nina Himmerkus, Markus Bleich, Sebastian Bachmann, Kerim Mutig, Eduardo R. Argaiz, Gerardo Gamba, Jeffrey D. Singer, David H. Ellison

J Clin Invest. 2014 Nov 3; 124(11): 4723–4736. Published online 2014 Sep 24. doi: 10.1172/JCI76126

PMCID:: PMC4347254

Abstract Article PDF–2.0M

Select item 433276919.

Potassium Modulates Electrolyte Balance and Blood Pressure through Effects on Distal Cell Voltage and Chloride

Andrew S. Terker, Chong Zhang, James A. McCormick, Rebecca A. Lazelle, Chengbiao Zhang, Nicholas P. Meermeier, Dominic A. Siler, Hae J. Park, Yi Fu, David M. Cohen, Alan M. Weinstein, Wen-Hui Wang, Chao-Ling Yang, David H. Ellison

Cell Metab. Author manuscript; available in PMC 2016 Jan 6.

Published in final edited form as: Cell Metab. 2015 Jan 6; 21(1): 39–50. doi: 10.1016/j.cmet.2014.12.006

PMCID:: PMC4332769

Abstract Article PDF–720K

Select item 421291320.

WNK4 is the major WNK positively regulating NCC in the mouse kidney

Daiei Takahashi, Takayasu Mori, Naohiro Nomura, Muhammad Zakir Hossain Khan, Yuya Araki, Moko Zeniya, Eisei Sohara, Tatemitsu Rai, Sei Sasaki, Shinichi Uchida

Biosci Rep. 2014; 34(3): e00107. Prepublished online 2014 Mar 21. Published online 2014 May 9. doi: 10.1042/BSR20140047

PMCID:: PMC4212913

Abstract Article PDF–1.1M

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