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Page 1
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
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M, Sikora J, Magner M, Wiederlechnerová H, Černá A, Poupětová H, Štorkánova G, Mušálková D, Dostálová G, Goláň L, Linhart A, Dvořáková L. Řeboun M, et al. Among authors: sikora j. Am J Med Genet A. 2022 Jul;188(7):1979-1989. doi: 10.1002/ajmg.a.62728. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338595
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
Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.
Živná M, Dostálová G, Barešová V, Mušálková D, Svojšová K, Meiseles D, Kinstlinger S, Kuchař L, Asfaw B, Poupětová H, Vlášková H, Kmochová T, Vyleťal P, Hartmannová H, Hodaňová K, Stránecký V, Steiner-Mrázová L, Hnízda A, Živný J, Radina M, Votruba M, Sovová J, Trešlová H, Stolnaja L, Reková P, Roblová L, Honsová E, Rychlík I, Dvela-Levitt M, Bleyer AJ, Linhart A, Sikora J, Kmoch S. Živná M, et al. Among authors: sikora j. J Am Soc Nephrol. 2024 Nov 12. doi: 10.1681/ASN.0000000535. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39704415 No abstract available.
54 results