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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P. Kousal B, et al. Among authors: gurka j. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651 Free article.
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Musalkova D, Sticova E, Reboun M, Sokolova J, Krijt J, Honzikova J, Gurka J, Neroldova M, Honzik T, Zeman J, Jirsa M, Dvorakova L, Hrebicek M. Musalkova D, et al. Among authors: gurka j. Virchows Arch. 2018 Jun;472(6):1029-1039. doi: 10.1007/s00428-018-2345-x. Epub 2018 Apr 6. Virchows Arch. 2018. PMID: 29623395
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Majer F, Kousal B, Dusek P, Piherova L, Reboun M, Mihalova R, Gurka J, Krebsova A, Vlaskova H, Dvorakova L, Krihova J, Liskova P, Kmoch S, Kalina T, Kubanek M, Sikora J. Majer F, et al. Among authors: gurka j. Am J Med Genet A. 2020 Jan;182(1):219-223. doi: 10.1002/ajmg.a.61416. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729179
A large scale virtual screen of DprE1.
Wilsey C, Gurka J, Toth D, Franco J. Wilsey C, et al. Among authors: gurka j. Comput Biol Chem. 2013 Dec;47:121-5. doi: 10.1016/j.compbiolchem.2013.08.006. Epub 2013 Aug 30. Comput Biol Chem. 2013. PMID: 24055764
28 results