Search Results - "Gašperíková, Daniela"

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report by Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela

“…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…”
Get full text

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin by Mašindová, Ivica, Šoltýsová, Andrea, Varga, Lukáš, Mátyás, Petra, Ficek, Andrej, Hučková, Miloslava, Sůrová, Martina, Šafka-Brožková, Dana, Anwar, Saima, Bene, Judit, Straka, Slavomír, Janicsek, Ingrid, Ahmed, Zubair M, Seeman, Pavel, Melegh, Béla, Profant, Milan, Klimeš, Iwar, Riazuddin, Saima, Kádasi, Ľudevít, Gašperíková, Daniela

“…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…”
Get full text

Clinical implications of the glucokinase impaired function - GCK MODY today by Hulín, J, Škopková, M, Valkovičová, T, Mikulajová, S, Rosoľanková, M, Papcun, P, Gašperíková, D, Staník, J

“…Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the…”
Get full text

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia by Valentínová, Lucia, Beer, Nicola L, Staník, Juraj, Tribble, Nicholas D, van de Bunt, Martijn, Hučková, Miroslava, Barrett, Amy, Klimeš, Iwar, Gašperíková, Daniela, Gloyn, Anna L

“…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…”
Get full text

Increased thyroid volume, prevalence of thyroid antibodies and impaired fasting glucose in young adults from organochlorine cocktail polluted area: Outcome of transgenerational transmission? by Langer, Pavel, Kočan, Anton, Tajtáková, Mária, Koška, Juraj, Rádiková, Žofia, Kšinantová, Lucia, Imrich, Richard, Hučková, Miloslava, Drobná, Beáta, Gašperíková, Daniela, Šeböková, Elena, Klimeš, Iwar

“…In 137 females (F) and 94 males (M) aged 21–35 years from organochlorines (OCs) polluted area (POLL) increased thyroid volume (ThV), prevalence of antibodies…”
Get full text

Adipokine Protein Expression Pattern in Growth Hormone Deficiency Predisposes to the Increased Fat Cell Size and the Whole Body Metabolic Derangements by Ukropec, Jozef, Penesová, Adela, Škopková, Martina, Pura, Mikuláš, Vlček, Miroslav, Rádiková, Žofia, Imrich, Richard, Ukropcová, Barbara, Tajtáková, Mária, Koška, Juraj, Zórad, Štefan, Belan, Vítazoslav, Vaňuga, Peter, Payer, Juraj, Eckel, Juergen, Klimeš, Iwar, Gašperíková, Daniela

“…Context: GH deficiency (GHD) in adults is associated with central adiposity, dyslipidemia, and insulin resistance. Objective: The objective of the study was to…”
Get full text

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool by Kušíková, Katarína, Šoltýsová, Andrea, Ficek, Andrej, Feichtinger, René G, Mayr, Johannes A, Škopková, Martina, Gašperíková, Daniela, Kolníková, Miriam, Ornig, Karoline, Kalev, Ognian, Weis, Serge, Weis, Denisa

“…X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the gene. XLMTM has a high…”
Get full text

Immunologic phenotype of a child with the MEHMO syndrome by Trochanová, I, Staníková, D, Škopková, M, Haštová, K, Gašperíková, D, Staník, J, Čižnár, P

“…MEHMO syndrome is a rare X-linked syndrome characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect…”
Get full text

Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans by GASPERIKOVA, Daniela, TRIBBLE, Nicolas D, BERECZKOVA, Eva, MICHILEK, Jozef, WICKS, Kate, COLCLOUGH, Kevin, KNIGHT, Julian C, ELLARD, Sian, KLIMES, Iwar, GLOYN, AnnaL, STANIK, Juraj, HUCKOVA, Miroslava, MISOVICOVA, Nadezda, VAN DE BUNT, Martin, VALENTINOVA, Lucia, BARROW, Beryl A, BARAK, L'ubomir, DOBRANSKY, Radoslav

“…Identification of a Novel β-Cell Glucokinase ( GCK ) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding…”
Get full text

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation? by Varga, Lukáš, Kabátová, Zuzana, Mašindová, Ivica, Nechojdomová, Daniela, Gašperíková, Daniela, Klimeš, Iwar, Profant, Milan

“…Abstract Conclusions: Implanted children with GJB2 mutations tended to achieve better functional outcomes than the two control groups, although clear-cut…”
Get full text

Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes by Staník, Juraj, Lethby, Mark, Flanagan, Sarah E, Gašperíková, Daniela, Milošovičová, Beata, Lever, Margaret, Bullman, Hilary, Zubcevic, Lejla, Hattersley, Andrew T, Ellard, Sian, Ashcroft, Frances M, Klimeš, Iwar

“…OBJECTIVE:--Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in…”
Get full text

Multiple adverse thyroid and metabolic health signs in the population from the area heavily polluted by organochlorine cocktail (PCB, DDE, HCB, dioxin) by Langer, Pavel, Kocan, Anton, Tajtáková, Mária, Susienková, Katarína, Rádiková, Zofia, Koska, Juraj, Ksinantová, Lucia, Imrich, Richard, Hucková, Miloslava, Drobná, Beáta, Gasperíková, Daniela, Trnovec, Tomás, Klimes, Iwar

“…Several our previous studies showed associations of increasing blood level of persistent organochlorinated pollutants (POPs) with individual thyroid and…”
Get full text

Novel insights into genetics and clinics of the HNF1A-MODY by Valkovicova, Terezia, Skopkova, Martina, Stanik, Juraj, Gasperikova, Daniela

“…MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a pathogenic effect of gene mutations. Up to date, 13 MODY genes are known…”
Get full text

Effects of obesity, diabetes and exercise on Fndc5 gene expression and irisin release in human skeletal muscle and adipose tissue: in vivo and in vitro studies by Kurdiova, Timea, Balaz, Miroslav, Vician, Marek, Maderova, Denisa, Vlcek, Miroslav, Valkovic, Ladislav, Srbecky, Miroslav, Imrich, Richard, Kyselovicova, Olga, Belan, Vitazoslav, Jelok, Ivan, Wolfrum, Christian, Klimes, Iwar, Krssak, Martin, Zemkova, Erika, Gasperikova, Daniela, Ukropec, Jozef, Ukropcova, Barbara

“…Key points Considerable controversy exists regarding the role of irisin, a putative exercise‐induced myokine, in human metabolism. We therefore studied irisin…”
Get full text

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss by Pavlenkova, Zuzana, Varga, Lukas, Borecka, Silvia, Karhanek, Miloslav, Huckova, Miloslava, Skopkova, Martina, Profant, Milan, Gasperikova, Daniela

“…The genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying…”
Get full text

Mitochondria and mitochondrial disorders: an overview update by Rambani, Vibhuti, Hromnikova, Dominika, Gasperikova, Daniela, Skopkova, Martina

“…Mitochondria, the cell powerhouse, are membrane-bound organelles present in the cytoplasm of almost all the eukaryotic cells. Their main function is to…”
Get full text

Complete remission in children and adolescents with type 1 diabetes mellitus—prevalence and factors by Podolakova, Kristina, Barak, Lubomir, Jancova, Emilia, Tarnokova, Simona, Podracka, Ludmila, Dobiasova, Zuzana, Skopkova, Martina, Gasperikova, Daniela, Stanik, Juraj

“…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…”
Get full text

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability by Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela

“…Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia…”
Get full text

Medium-chain fatty acids ameliorate insulin resistance caused by high-fat diets in rats by Wein, Silvia, Wolffram, Siegfried, Schrezenmeir, Jürgen, Gašperiková, Daniela, Klimeš, Iwar, Šeböková, Elena

“…Background High dietary intake of saturated fat impairs insulin sensitivity and lipid metabolism. The influence of fatty acid chain length, however, is not yet…”
Get full text

Serum Afamin a Novel Marker of Increased Hepatic Lipid Content by Kurdiova, Timea, Balaz, Miroslav, Kovanicova, Zuzana, Zemkova, Erika, Kuzma, Martin, Belan, Vitazoslav, Payer, Juraj, Gasperikova, Daniela, Dieplinger, Hans, Ukropcova, Barbara, Ukropec, Jozef

“…Afamin is a liver-produced glycoprotein, a potential early marker of metabolic syndrome. Here we investigated regulation of afamin in a course of the metabolic…”
Get full text