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Journal Abstract Search
120 related items for PubMed ID: 34159796
1. A rare case of persistent hyperkalaemia. Lewis T, Roberts G, Zouwail S. Ann Clin Biochem; 2021 Nov; 58(6):661-665. PubMed ID: 34159796 [Abstract] [Full Text] [Related]
4. Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report. Park JH, Kim JH, Ahn YH, Kang HG, Ha IS, Cheong HI. J Pediatr Endocrinol Metab; 2022 Feb 23; 35(2):253-257. PubMed ID: 34480842 [Abstract] [Full Text] [Related]
5. Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations. Anglani F, Salviati L, Cassina M, Rigato M, Gobbi L, Calò LA. J Nephrol; 2022 Apr 23; 35(3):859-862. PubMed ID: 34089516 [Abstract] [Full Text] [Related]
11. Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations. Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J. Curr Opin Nephrol Hypertens; 2012 Jan 23; 21(1):39-45. PubMed ID: 22080857 [Abstract] [Full Text] [Related]
12. A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life. Etges A, Hellmig N, Walenda G, Haddad BG, Machtens JP, Morosan T, Rump LC, Scholl UI. Nephron; 2022 Jan 23; 146(4):418-428. PubMed ID: 35093948 [Abstract] [Full Text] [Related]
14. A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1. Peces R, Peces C, Espinosa L, Mena R, Blanco C, Tenorio-Castaño J, Lapunzina P, Nevado J. Genes (Basel); 2023 Sep 27; 14(10):. PubMed ID: 37895227 [Abstract] [Full Text] [Related]
16. A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4. Sakoh T, Sekine A, Mori T, Mizuno H, Kawada M, Hiramatsu R, Hasegawa E, Hayami N, Yamanouchi M, Suwabe T, Sawa N, Ubara Y, Fujimaru T, Sohara E, Shinichi U, Hoshino J, Takaichi K. Mol Genet Genomic Med; 2019 Jun 27; 7(6):e705. PubMed ID: 31044551 [Abstract] [Full Text] [Related]
17. Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice. Susa K, Sohara E, Rai T, Zeniya M, Mori Y, Mori T, Chiga M, Nomura N, Nishida H, Takahashi D, Isobe K, Inoue Y, Takeishi K, Takeda N, Sasaki S, Uchida S. Hum Mol Genet; 2014 Oct 01; 23(19):5052-60. PubMed ID: 24821705 [Abstract] [Full Text] [Related]
18. Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling. Ishizawa K, Wang Q, Li J, Yamazaki O, Tamura Y, Fujigaki Y, Uchida S, Lifton RP, Shibata S. Proc Natl Acad Sci U S A; 2019 Feb 19; 116(8):3155-3160. PubMed ID: 30718414 [Abstract] [Full Text] [Related]
19. Association of Familial Hyperkalemia and Hypertension with Proximal Renal Tubular Acidosis and Epileptic Seizures. Shirin N, Rabinowitz G, Blatt I, Karlish SJD, Farfel Z, Mayan H. Nephron; 2024 Feb 19; 148(3):179-184. PubMed ID: 37666233 [Abstract] [Full Text] [Related]