A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Authors: Sikora, Jakub, Kmochová, Tereza, Mušálková, Dita, Pohludka, Michal, Přikryl, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Nosková, Lenka, Mrázová, Lenka, Stránecký, Viktor, Lunová, Mariia, Jirsa, Milan, Honsová, Eva, Dasari, Surendra, McPhail, Ellen D., Leung, Nelson, Živná, Martina, Bleyer, Anthony J., Rychlík, Ivan, Ryšavá, Romana, Kmoch, Stanislav

Source: Kidney international. 101(2):349-359

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164489323.0x000001&indx=1&recIds=ETOCvdc_100164489323.0x000001

Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease

Authors: Majer, Filip, Asfaw, Befekadu, Kuchař, Ladislav, Mušálková, Dita, Steiner‐Mrázová, Lenka, Dobrovolný, Robert, Ledvinová, Jana, Hřebíček, Martin

Source: Journal of inherited metabolic disease. 45(3):584-592

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154976199.0x000001&indx=1&recIds=ETOCvdc_100154976199.0x000001

Muzejní profese a veřejnost 2

Authors: Holubová, Zuzana, Kučera, Tomáš, Kyselá, Monika, Mažárová, Monika, Mertová, Mertová, Mrázová, Lenka, Ostřanská, Ivana, Palárik, Miroslav, Pešková, Jitka, Svátková, Barbora, Šebek, František, Tomešková, Kateřina, Vachůt, Vachůt, Velková, Jitka

Contributors: Jagošová, Lucie, Kirsch, Otakar

Subject Terms: museum, museum public, museum pedagogy, museum practice, museum professions, scientific disciplines in museum, Museology and heritage studies

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Access URL: https://directory.doabooks.org/handle/20.500.12854/80499
https://munispace.muni.cz/library/catalog/download/1430/3927/1870-1

Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Authors: Panovský, Roman, Pešl, Martin, Holeček, Tomáš, Máchal, Jan, Feitová, Věra, Mrázová, Lenka, Haberlová, Jana, Slabá, Alžběta, Vít, Pavel, Stará, Veronika, Kincl, Vladimír

Source: Orphanet journal of rare diseases. 14(1):1-10

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Authors: Grünert, Sarah Catharina, Schlatter, Sonja Marina, Schmitt, Robert Niklas, Gemperle-Britschgi, Corinne, Mrázová, Lenka, Balcı, Mehmet Cihan, Bischof, Felix, Çoker, Mahmut, Das, Anibh M., Demirkol, Mübeccel, de Vries, Maaike, Gökçay, Gülden, Häberle, Johannes, Uçar, Sema Kalkan, Lotz-Havla, Amelie Sophia, Lücke, Thomas, Roland, Dominique, Rutsch, Frank, Santer, René, Schlune, Andrea, Staufner, Christian, Schwab, Karl Otfried, Mitchell, Grant A., Sass, Jörn Oliver

Source: In Molecular Genetics and Metabolism July 2017 121(3):206-215

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Authors: Neřoldová, Magdaléna, Stránecký, Viktor, Hodaňová, Kateřina, Hartmannová, Hana, Piherová, Lenka, Přistoupilová, Anna, Mrázová, Lenka, Vrablík, Michal, Adámková, Věra, Hubáček, Jaroslav A, Jirsa, Milan, Kmoch, Stanislav

Source: Pharmacogenomics. 17(13):1405-1414

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139391403.0x000001&indx=1&recIds=ETOCvdc_100139391403.0x000001

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Authors: Neřoldová, Magdaléna, Ciara, Elżbieta, Slatinská, Janka, Fraňková, Soňa, Lišková, Petra, Kotalová, Radana, Globinovská, Janka, Šafaříková, Markéta, Pfeiferová, Lucie, Zůnová, Hana, Mrázová, Lenka, Stránecký, Viktor, Vrbacká, Alena, Fabián, Ondřej, Sticová, Eva, Skanderová, Daniela, Šperl, Jan, Kalousová, Marta, Zima, Tomáš, Macek, Milan

Source: PLoS ONE; 7/20/2023, Vol. 18 Issue 7, p1-15, 15p

Subject Terms: EXOMES, HETEROZYGOSITY, GLYCOGEN storage disease, LIVER diseases, ARNOLD-Chiari deformity, LAURENCE-Moon-Biedl syndrome, MISSENSE mutation, ETIOLOGY of diseases

MEZIOBOROVÁ TERÉNNÍ VÝUKA V RÁMCI LETNÍ ŠKOLY GEOCAMP. (Czech)

Alternate Title: Interdisciplinary Fieldwork Education within the Geocamp Summer School. (English)

Authors: RUBÁŠ, DOMINIK, MATĚJČEK, TOMÁŠ, MRÁZOVÁ, LENKA

Source: Biology-Chemistry-Geography / Biologie-Chemie-Zeměpis; 2023, Vol. 32 Issue 3, p2-16, 15p

Subject Terms: CONCEPT learning, INQUIRY-based learning, EDUCATIONAL planning, EDUCATIONAL objectives, COMPULSORY education

Geographic Terms: CZECH Republic

Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

Authors: Svobodová, Eva, Mrázová, Lenka, Lukšan, Ondřej, Elstein, Deborah, Zimran, Ari, Stolnaya, Larisa, Minks, Jakub, Eberová, Jitka, Dvořáková, Lenka, Jirsa, Milan, Hřebíček, Martin

Source: In Blood Cells, Molecules and Diseases 15 March 2011 46(3):239-245

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Authors: Neřoldová, Magdaléna, Ciara, Elżbieta, Slatinská, Janka, Fraňková, Soňa, Lišková, Petra, Kotalová, Radana, Globinovská, Janka, Šafaříková, Markéta, Pfeiferová, Lucie, Zůnová, Hana, Mrázová, Lenka, Stránecký, Viktor, Vrbacká, Alena, Fabián, Ondřej, Sticová, Eva, Skanderová, Daniela, Šperl, Jan, Kalousová, Marta, Zima, Tomáš, Macek, Milan

Source: PLoS ONE; 1/30/2025, Vol. 20 Issue 1, p1-1, 1p

Subject Terms: GENETIC variation, LIVER diseases, SHAVING

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Authors: Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.

Source: In The American Journal of Human Genetics 2006 79(5):807-819

Ohlédnutí za mezinárodní vědeckou konferencí Muze050.

Authors: Jagošová, Lucie, Mrázová, Lenka

Source: Museology & Cultural Heritage / Muzeologia a Kulturne Dedicstvo. 2015, Issue 1, p111-114. 4p.

A mutation in the SAA1promoter causes hereditary amyloid A amyloidosis

Authors: Sikora, Jakub, Kmochová, Tereza, Mušálková, Dita, Pohludka, Michal, Přikryl, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Nosková, Lenka, Mrázová, Lenka, Stránecký, Viktor, Lunová, Mariia, Jirsa, Milan, Honsová, Eva, Dasari, Surendra, McPhail, Ellen D., Leung, Nelson, Živná, Martina, Bleyer, Anthony J., Rychlík, Ivan, Ryšavá, Romana, Kmoch, Stanislav

Source: Kidney International; February 2022, Vol. 101 Issue: 2 p349-359, 11p

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

Authors: Hodaňová, Kateřina, Hřebı́ček, Martin, Červenková, Markéta, Mrázová, Lenka, Vepřeková, Lenka, Zeman, Jiřı́

Source: In Blood Cells, Molecules and Diseases October 1999 25(5):287-298

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Misprocessing of Alpha-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response

Authors: Živná, Martina, Dostálová, Gabriela, Barešová, Veronika, Mušálková, Dita, Svojšová, Klára, Meiseles, Doria, Kinstlinger, Sara, Kuchař, Ladislav, Asfaw, Befekadu, Poupětová, Helena, Vlášková, Hana, Kmochová, Tereza, Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Steiner-Mrázová, Lenka, Hnízda, Aleš, Živný, Jan, Radina, Martin, Votruba, Miroslav, Sovová, Jana, Trešlová, Helena, Stolnaja, Larisa, Reková, Petra, Roblová, Lenka, Honsová, Eva, Rychlík, Ivan, Dvela-Levitt, Moran, Bleyer, Anthony J., Linhart, Aleš, Sikora, Jakub, Kmoch, Stanislav

Source: Journal of the American Society of Nephrology; 20240101, Issue: Preprints

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