Majer F - Search Results

1

Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements.

Majer F, Sikora J. Majer F, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1830. doi: 10.1002/mgg3.1830. Epub 2021 Oct 1. Mol Genet Genomic Med. 2021. PMID: 34596355 Free PMC article. No abstract available.

2

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans.

Sikora J, Urinovská J, Majer F, Poupetová H, Hlavatá J, Kostrouchová M, Ledvinová J, Hrebícek M. Sikora J, et al. Among authors: majer f. Mol Cell Biochem. 2010 Aug;341(1-2):51-63. doi: 10.1007/s11010-010-0436-3. Epub 2010 Mar 27. Mol Cell Biochem. 2010. PMID: 20349118

3

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J. Majer F, et al. Gene. 2012 May 1;498(2):183-95. doi: 10.1016/j.gene.2012.02.004. Epub 2012 Feb 21. Gene. 2012. PMID: 22365987

4

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Majer F, et al. J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29. J Inherit Metab Dis. 2014. PMID: 23716275

5

LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers.

Sikora J, Majer F, Kalina T. Sikora J, et al. Among authors: majer f. J Cardiol. 2015 Jul;66(1):88-9. doi: 10.1016/j.jjcc.2014.12.014. Epub 2015 Jan 27. J Cardiol. 2015. PMID: 25636828 Free article. No abstract available.

6

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Majer F, Piherova L, Reboun M, Stara V, Pelak O, Norambuena P, Stranecky V, Krebsova A, Vlaskova H, Dvorakova L, Kmoch S, Kalina T, Kubanek M, Sikora J. Majer F, et al. Am J Med Genet A. 2018 Nov;176(11):2430-2434. doi: 10.1002/ajmg.a.40430. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194816

7

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. 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

8

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Musalkova D, Majer F, Kuchar L, Luksan O, Asfaw B, Vlaskova H, Storkanova G, Reboun M, Poupetova H, Jahnova H, Hulkova H, Ledvinova J, Dvorakova L, Sikora J, Jirsa M, Vanier MT, Hrebicek M. Musalkova D, et al. Among authors: majer f. Orphanet J Rare Dis. 2020 Apr 5;15(1):85. doi: 10.1186/s13023-020-01360-5. Orphanet J Rare Dis. 2020. PMID: 32248828 Free PMC article.

9

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Jedličková I, Přistoupilová A, Nosková L, Majer F, Stránecký V, Hartmannová H, Hodaňová K, Trešlová H, Hýblová M, Solár P, Minárik G, Giertlová M, Kmoch S. Jedličková I, et al. Among authors: majer f. Mol Genet Genomic Med. 2020 Jul;8(7):e1238. doi: 10.1002/mgg3.1238. Epub 2020 Apr 26. Mol Genet Genomic Med. 2020. PMID: 32337852 Free PMC article.

10

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: majer f. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651 Free article.

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