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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 50695412.

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

Marie Mitani, Munehiro Furuichi, Satoshi Narumi, Tomonobu Hasegawa, Motoko Chiga, Shinichi Uchida, Seiji Sato

Clin Pediatr Endocrinol. 2016 Oct; 25(4): 127–134. Published online 2016 Oct 18. doi: 10.1297/cpe.25.127

PMCID:: PMC5069541

Abstract Article PDF–739K

Select item 81412373.

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 37337494.

A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3

Shoji Tsuji, Miyoko Yamashita, Gen Unishi, Reiko Takewa, Takahisa Kimata, Kiyoshi Isobe, Motoko Chiga, Shinichi Uchida, Kazunari Kaneko

BMC Nephrol. 2013; 14: 166. Published online 2013 Jul 31. doi: 10.1186/1471-2369-14-166

PMCID:: PMC3733749

Abstract Article PDF–590K

Select item 58329715.

A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II

Leping Shao, Li Cui, Jingru Lu, Yanhua Lang, Irene Bottillo, Xiangzhong Zhao

FEBS Open Bio. 2018 Mar; 8(3): 461–469. Published online 2018 Feb 10. doi: 10.1002/2211-5463.12389

PMCID:: PMC5832971

Abstract Article PDF–743K

Select item 108748876.

Pseudohypoaldosteronism Type II or Gordon Syndrome: A Rare Syndrome of Hyperkalemia and Hypertension With Normal Renal Function

FNU Manas, Sneha Singh

Cureus. 2024 Jan; 16(1): e52594. Published online 2024 Jan 19. doi: 10.7759/cureus.52594

PMCID:: PMC10874887

Abstract Article PDF–83K

Select item 53594277.

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 47283498.

Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene

Yuya Araki, Tatemitsu Rai, Eisei Sohara, Takayasu Mori, Yuichi Inoue, Kiyoshi Isobe, Eriko Kikuchi, Akihito Ohta, Sei Sasaki, Shinichi Uchida

Biol Open. 2015 Nov 15; 4(11): 1509–1517. Published online 2015 Oct 21. doi: 10.1242/bio.013276

PMCID:: PMC4728349

Abstract Article PDF–961K

Select item 93938319.

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 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 1013309811.

Cullin 3 and blood pressure regulation: insights from Familial Hyperkalemic Hypertension

Yujiro Maeoka, Ryan J. Cornelius, James A. McCormick

Hypertension. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Hypertension. 2023 May; 80(5): 912–923. Published online 2023 Mar 2. doi: 10.1161/HYPERTENSIONAHA.123.20525

PMCID:: PMC10133098

Abstract Article PDF–1.6M

Select item 623074112.

Dual gain and loss of cullin 3 function mediates familial hyperkalemic hypertension

Ryan J. Cornelius, Chong Zhang, Kayla J. Erspamer, Larry N. Agbor, Curt D. Sigmund, Jeffrey D. Singer, Chao-Ling Yang, David H. Ellison

Am J Physiol Renal Physiol. 2018 Oct 1; 315(4): F1006–F1018. Published online 2018 Jun 13. doi: 10.1152/ajprenal.00602.2017

PMCID:: PMC6230741

Abstract Article

Select item 494583613.

ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3^Δ403‐459 mutation

Meena Murthy, Thimo Kurz, Kevin M. O'Shaughnessy

Physiol Rep. 2016 Jul; 4(13): e12850. Published online 2016 Jul 4. doi: 10.14814/phy2.12850

PMCID:: PMC4945836

Abstract Article PDF–1.1M

Select item 960293514.

Cullin 3 mutant causing familial hyperkalemic hypertension lacks normal activity in the kidney

Yujiro Maeoka, Ryan J. Cornelius, Mohammed Zubaerul Ferdaus, Avika Sharma, Luan T. Nguyen, James A. McCormick

Am J Physiol Renal Physiol. 2022 Nov 1; 323(5): F564–F576. Published online 2022 Aug 26. doi: 10.1152/ajprenal.00153.2022

PMCID:: PMC9602935

Abstract Article

Select item 101274115.

Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.

F Halal, F C Fraser

J Med Genet. 1979 Apr; 16(2): 149–150. doi: 10.1136/jmg.16.2.149

PMCID:: PMC1012741

Summary Page Browse PDF–447K

Select item 644781916.

Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms

Yanbo Ma, Yantao Zhao, Zhen Cai, Xiuyan Hao

Exp Ther Med. 2019 May; 17(5): 3518–3524. Published online 2019 Mar 13. doi: 10.3892/etm.2019.7381

PMCID:: PMC6447819

Abstract Article PDF–1.3M

Select item 910523517.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 897505618.

Combined Kelch-like 3 and Cullin 3 Degradation is a Central Mechanism in Familial Hyperkalemic Hypertension in Mice

Yujiro Maeoka, Mohammed Z. Ferdaus, Ryan J. Cornelius, Avika Sharma, Xiao-Tong Su, Lauren N. Miller, Joshua A. Robertson, Susan B. Gurley, Chao-Ling Yang, David H. Ellison, James A. McCormick

J Am Soc Nephrol. 2022 Mar; 33(3): 584–600. Published online 2022 Mar. doi: 10.1681/ASN.2021081099

PMCID:: PMC8975056

Abstract Article

Select item 877074419.

Low Salt Delivery Triggers Autocrine Release of Prostaglandin E2 From the Aldosterone-Sensitive Distal Nephron in Familial Hyperkalemic Hypertension Mice

Ava M. Zapf, Paul R. Grimm, Lama Al-Qusairi, Eric Delpire, Paul A. Welling

Front Physiol. 2021; 12: 787323. Published online 2022 Jan 6. doi: 10.3389/fphys.2021.787323

PMCID:: PMC8770744

Abstract Article PDF–1.7M

Select item 376158520.

Emmanuelle Vidal-Petiot, Emilie Elvira-Matelot, Kerim Mutig, Christelle Soukaseum, Véronique Baudrie, Shengnan Wu, Lydie Cheval, Elizabeth Huc, Michèle Cambillau, Sebastian Bachmann, Alain Doucet, Xavier Jeunemaitre, Juliette Hadchouel

Proc Natl Acad Sci U S A. 2013 Aug 27; 110(35): 14366–14371. Published online 2013 Aug 12. doi: 10.1073/pnas.1304230110