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Page 1
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD.
Jorge S, Kidd K, Vylet'al P, Nogueira E, Martin L, Howard K, Barešová V, Hodaňová K, Hnízda A, Moldovan O, Silveira C, Coutinho AM, Lopes JA, Bleyer AJ, Kmoch S, Živná M. Jorge S, et al. Among authors: kmoch s. Kidney Int Rep. 2023 Jan 16;8(5):1112-1116. doi: 10.1016/j.ekir.2023.01.017. eCollection 2023 May. Kidney Int Rep. 2023. PMID: 37180515 Free PMC article. No abstract available.
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH. van de Steeg E, et al. Among authors: kmoch s. J Clin Invest. 2012 Feb;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232210 Free PMC article.
A novel deficiency of mitochondrial ATPase of nuclear origin.
Houstek J, Klement P, Floryk D, Antonická H, Hermanská J, Kalous M, Hansíková H, Hout'ková H, Chowdhury SK, Rosipal T, Kmoch S, Stratilová L, Zeman J. Houstek J, et al. Among authors: kmoch s. Hum Mol Genet. 1999 Oct;8(11):1967-74. doi: 10.1093/hmg/8.11.1967. Hum Mol Genet. 1999. PMID: 10484764
HIF and reactive oxygen species regulate oxidative phosphorylation in cancer.
Hervouet E, Cízková A, Demont J, Vojtísková A, Pecina P, Franssen-van Hal NL, Keijer J, Simonnet H, Ivánek R, Kmoch S, Godinot C, Houstek J. Hervouet E, et al. Among authors: kmoch s. Carcinogenesis. 2008 Aug;29(8):1528-37. doi: 10.1093/carcin/bgn125. Epub 2008 May 29. Carcinogenesis. 2008. PMID: 18515279
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S. Gregersen N, et al. Among authors: kmoch s. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S. Cízková A, et al. Among authors: kmoch s. BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38. BMC Genomics. 2008. PMID: 18221507 Free PMC article.
166 results