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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.
J Am Soc Nephrol. 2018.
PMID: 29967284
Free PMC article.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Vylet'al P, Kidd K, Ainsworth HC, Springer D, Vrbacká A, Přistoupilová A, Hughey RP, Alper SL, Lennon N, Harrison S, Harden M, Robins V, Taylor A, Martin L, Howard K, Bitar I, Langefeld CD, Barešová V, Hartmannová H, Hodaňová K, Zima T, Živná M, Kmoch S, Bleyer AJ.
Vylet'al P, et al. Among authors: vrbacka a.
Am J Nephrol. 2021;52(5):378-387. doi: 10.1159/000515810. Epub 2021 Jun 7.
Am J Nephrol. 2021.
PMID: 34098564
Free PMC article.
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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidd K, Vylet'al P, Schaeffer C, Olinger E, Živná M, Hodaňová K, Robins V, Johnson E, Taylor A, Martin L, Izzi C, Jorge SC, Calado J, Torres RJ, Lhotta K, Steubl D, Gale DP, Gast C, Gombos E, Ainsworth HC, Chen YM, Almeida JR, de Souza CF, Silveira C, Raposeiro R, Weller N, Conlon PJ, Murray SL, Benson KA, Cavalleri GL, Votruba M, Vrbacká A, Amoroso A, Gianchino D, Caridi G, Ghiggeri GM, Divers J, Scolari F, Devuyst O, Rampoldi L, Kmoch S, Bleyer AJ.
Kidd K, et al. Among authors: vrbacka a.
Kidney Int Rep. 2020 Jul 3;5(9):1472-1485. doi: 10.1016/j.ekir.2020.06.029. eCollection 2020 Sep.
Kidney Int Rep. 2020.
PMID: 32954071
Free PMC article.
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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: vrbacka a.
J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1065-1071. doi: 10.1093/jnen/nlaa070.
J Neuropathol Exp Neurol. 2020.
PMID: 32827029
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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: vrbacka a.
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
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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M.
Neřoldová M, et al. Among authors: vrbacka a.
PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023.
PLoS One. 2023.
PMID: 37471416
Free PMC article.
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