Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Daniela Gašperíková"'
Autor:
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G. Feichtinger, Johannes A. Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
Publikováno v:
Genes, Vol 14, Iss 12, p 2174 (2023)
Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype
Externí odkaz:
https://doaj.org/article/38a5936ad93a48b8b8e97277fcd14f4b
Autor:
Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin. Some of these mutations may be
Externí odkaz:
https://doaj.org/article/58aa5c5e672e4c6588e7c62331ab660a
Autor:
Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková, Vlasta Čejnová, Dagmar Rašková, Filip Lhota, Daniela Gašperíková, Pavel Seeman
Publikováno v:
Genes, Vol 12, Iss 5, p 684 (2021)
Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting di
Externí odkaz:
https://doaj.org/article/95b93eb1903d4d9380e5435ff174e456
Autor:
Ivica Mašindová, Andrea Šoltýsová, Lukáš Varga, Petra Mátyás, Andrej Ficek, Miloslava Hučková, Martina Sůrová, Dana Šafka-Brožková, Saima Anwar, Judit Bene, Slavomír Straka, Ingrid Janicsek, Zubair M Ahmed, Pavel Seeman, Béla Melegh, Milan Profant, Iwar Klimeš, Saima Riazuddin, Ľudevít Kádasi, Daniela Gašperíková
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0124232 (2015)
In the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia and Hungary), and 2) to analyze a possible common origin of the c.1331+2T>C mutation among
Externí odkaz:
https://doaj.org/article/2211c17f1c124b1f8927900caae4f350
Autor:
Lucia Valentínová, Nicola L Beer, Juraj Staník, Nicholas D Tribble, Martijn van de Bunt, Miroslava Hučková, Amy Barrett, Iwar Klimeš, Daniela Gašperíková, Anna L Gloyn
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34541 (2012)
Heterozygous glucokinase (GCK) mutations cause a subtype of maturity-onset diabetes of the young (GCK-MODY). Over 600 GCK mutations have been reported of which ∼65% are missense. In many cases co-segregation has not been established and despite the
Externí odkaz:
https://doaj.org/article/dcb84374485d4c3eb7c33ea7ba2112e7
Autor:
Kristina Podolakova, Lubomir Barak, Emilia Jancova, Simona Tarnokova, Ludmila Podracka, Zuzana Dobiasova, Martina Skopkova, Daniela Gasperikova, Juraj Stanik
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Little is known about complete remission in Type 1 diabetes mellitus (T1D) with the discontinuance of insulin treatment for a period of time. In this retrospective study we analysed the frequency and factors of onset and duration of 1. remis
Externí odkaz:
https://doaj.org/article/a1782293193f42c8add2061e0b80e967
Autor:
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-letha
Externí odkaz:
https://doaj.org/article/c27a06cd61034359a5ceaf3ef16fd41c
Publikováno v:
Vnitrni lekarstvi. 62(11 Suppl 4)
Congenital hyperinsulinism (CHI) is the most common cause of severe persistent hypoglycemia in neonates and infants. Early diagnosis and effective treatment (based on the principles of pharmacogenetics) play the key role for the prognosis. The DNA an
Autor:
Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Piotr Radkowski, Przemysław Kapusta, Julita Machlowska, Stepanka Pruhova, Daniela Gasperikova, Christine Bellanne-Chantelot, Andrew Hattersley, Balamurugan Kandasamy, Lisa Letourneau-Freiberg, Louis Philipson, Alessandro Doria, Paweł P. Wołkow, Maciej T. Małecki, Tomasz Klupa
Publikováno v:
Molecular Medicine, Vol 28, Iss 1, Pp 1-13 (2022)
Abstract Background HNF1A-MODY is a monogenic form of diabetes caused by variants in the HNF1A gene. Different HNF1A variants are associated with differences in age of disease onset, but other factors are postulated to influence this trait. Here, we
Externí odkaz:
https://doaj.org/article/1277379c6c1841b58fa7e39cbf7164b8
Autor:
Zuzana Pavlenkova, Lukas Varga, Silvia Borecka, Miloslav Karhanek, Miloslava Huckova, Martina Skopkova, Milan Profant, Daniela Gasperikova
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract The genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying causal genes associated with mid-frequency hearing loss (HL), which contributes to
Externí odkaz:
https://doaj.org/article/d07c4be76fda4d4d81919144ffb8c089