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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hůlková H, Pompach P, Novák P, Weinberg RB, Bedard K, Živná M, Sikora J, Bleyer AJ Sr, Kmoch S. Kmochová T, et al. Among authors: kmoch s. Kidney Int. 2024 Apr;105(4):799-811. doi: 10.1016/j.kint.2023.11.021. Epub 2023 Dec 12. Kidney Int. 2024. PMID: 38096951
Amino acid polymorphism (Gly209Ser) in the ACADS gene.
Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N. Kristensen MJ, et al. Among authors: kmoch s. Hum Mol Genet. 1994 Sep;3(9):1711. doi: 10.1093/hmg/3.9.1711-a. Hum Mol Genet. 1994. PMID: 7833941 No abstract available.
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M. Tanaka K, et al. Among authors: kmoch s. Pediatr Res. 1997 Feb;41(2):201-9. doi: 10.1203/00006450-199702000-00008. Pediatr Res. 1997. PMID: 9029639
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
158 results