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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: sikora j. 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
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M, Kidd K, Zaidan M, Vyleťal P, Barešová V, Hodaňová K, Sovová J, Hartmannová H, Votruba M, Trešlová H, Jedličková I, Sikora J, Hůlková H, Robins V, Hnízda A, Živný J, Papagregoriou G, Mesnard L, Beck BB, Wenzel A, Tory K, Häeffner K, Wolf MTF, Bleyer ME, Sayer JA, Ong ACM, Balogh L, Jakubowska A, Łaszkiewicz A, Clissold R, Shaw-Smith C, Munshi R, Haws RM, Izzi C, Capelli I, Santostefano M, Graziano C, Scolari F, Sussman A, Trachtman H, Decramer S, Matignon M, Grimbert P, Shoemaker LR, Stavrou C, Abdelwahed M, Belghith N, Sinclair M, Claes K, Kopel T, Moe S, Deltas C, Knebelmann B, Rampoldi L, Kmoch S, Bleyer AJ. Živná M, et al. Among authors: sikora j. Kidney Int. 2020 Dec;98(6):1589-1604. doi: 10.1016/j.kint.2020.06.041. Epub 2020 Aug 1. Kidney Int. 2020. PMID: 32750457 Free PMC article.
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Sikora J, Kmochová T, Mušálková D, Pohludka M, Přikryl P, Hartmannová H, Hodaňová K, Trešlová H, Nosková L, Mrázová L, Stránecký V, Lunová M, Jirsa M, Honsová E, Dasari S, McPhail ED, Leung N, Živná M, Bleyer AJ, Rychlík I, Ryšavá R, Kmoch S. Sikora J, et al. Kidney Int. 2022 Feb;101(2):349-359. doi: 10.1016/j.kint.2021.09.007. Epub 2021 Sep 21. Kidney Int. 2022. PMID: 34560138
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Vylet'al P, et al. Among authors: sikora j. Kidney Int. 2006 Sep;70(6):1155-69. doi: 10.1038/sj.ki.5001728. Epub 2006 Aug 2. Kidney Int. 2006. PMID: 16883323 Free article.
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Zivná M, et al. Among authors: sikora j. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664745 Free PMC article.
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I, Cadieux-Dion M, Přistoupilová A, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Hůlková H, Sikora J, Nosková L, Mušálková D, Vyleťal P, Sovová J, Cossette P, Andermann E, Andermann F, Kmoch S; Adult NCL Gene Discovery Consortium. Jedličková I, et al. Among authors: sikora j. Eur J Hum Genet. 2020 Jun;28(6):783-789. doi: 10.1038/s41431-019-0567-2. Epub 2020 Jan 9. Eur J Hum Genet. 2020. PMID: 31919451 Free PMC article.
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.
Jedlickova I, Pristoupilova A, Hulkova H, Vrbacka A, Stranecky V, Hruba E, Jesina P, Honzik T, Hrdlicka I, Fremuth J, Pivovarcikova K, Bitar I, Matej R, Kmoch S, Sikora J. Jedlickova I, et al. Among authors: sikora j. J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1065-1071. doi: 10.1093/jnen/nlaa070. J Neuropathol Exp Neurol. 2020. PMID: 32827029
474 results