Publications by authors named "Filip Majer"

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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Ange-Line Bruel, Anil Kumar Ganga, Lenka Nosková, Irene Valenzuela, Jelena Martinovic, Filip Majer

Hum Mol Genet· September 2023

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Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.
Filip Majer, Befekadu Asfaw, Ladislav Kuchař, Dita Mušálková, Lenka Steiner-Mrázová

J Inherit Metab Dis· May 2022

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Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements.
Filip Majer, Jakub Sikora

Mol Genet Genomic Med· December 2021

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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.
Bohdan Kousal, Filip Majer, Hana Vlaskova, Lenka Dvorakova, Lenka Piherova

Acta Ophthalmol· February 2021

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Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
Jiri Gurka, Lenka Piherova, Filip Majer, Anna Chaloupka, Daniela Zakova

ESC Heart Fail· October 2020

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Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký

Mol Genet Genomic Med· July 2020

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw

Orphanet J Rare Dis· April 2020

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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Filip Majer, Bohdan Kousal, Petr Dusek, Lenka Piherova, Martin Reboun

Am J Med Genet A· January 2020

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LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Filip Majer, Lenka Piherova, Martin Reboun, Veronika Stara, Ondrej Pelak

Am J Med Genet A· November 2018

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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.
Jakub Sikora, Filip Majer, Tomas Kalina

J Cardiol· July 2015

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Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.
Filip Majer, Ondrej Pelak, Tomas Kalina, Hana Vlaskova, Lenka Dvorakova

J Inherit Metab Dis· January 2014

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Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans.
Jakub Sikora, Jana Urinovská, Filip Majer, Helena Poupetová, Jitka Hlavatá

Mol Cell Biochem· August 2010

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Two aspartic proteinases secreted by the pathogenic yeast Candida parapsilosis differ in expression pattern and catalytic properties.
Olga Hrusková-Heidingsfeldová, Jirí Dostál, Filip Majer, Jana Havlíkova, Martin Hradilek

Biol Chem· March 2009

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Photodynamic therapy of nonmelanoma skin cancer with topical hypericum perforatum extract--a pilot study.
Denisa Kacerovská, Karel Pizinger, Filip Majer, Frantisek Smíd

Photochem Photobiol· September 2008

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Changes in GM1 ganglioside content and localization in cholestatic rat liver.
Marie Jirkovská, Filip Majer, Jaroslava Smídová, Jan Stríteský, Gouse Mohiddin Shaik

Glycoconj J· July 2007

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Estrogen-induced cholestasis results in a dramatic increase of b-series gangliosides in the rat liver.
Filip Majer, Ladislav Trnka, Libor Vítek, Marie Jirkovská, Zdenek Marecek

Biomed Chromatogr· May 2007

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Structure-based specificity mapping of secreted aspartic proteases of Candida parapsilosis, Candida albicans, and Candida tropicalis using peptidomimetic inhibitors and homology modeling.
Filip Majer, Libuse Pavlícková, Pavel Majer, Martin Hradilek, Elena Dolejsí

Biol Chem· September 2006

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Identification of bilirubin reduction products formed by Clostridium perfringens isolated from human neonatal fecal flora.
Libor Vítek, Filip Majer, Lucie Muchová, Jaroslav Zelenka, Alena Jirásková

J Chromatogr B Analyt Technol Biomed Life Sci· April 2006

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