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1.

001-es BibID:BIBFORM091893
Első szerző:Bessenyei Beáta (molekuláris biológus)
Cím:Genetic investigation of the LIS1, DCX and TUBA1A genes in patients with lissencephaly / B. Bessenyei, A. Mokanszki, O. Nagy, K. Szakszon, A. Zimmermann, M. Zombor, E. Horvath, A. Ujfalusi, I. Balogh, L. Sztriha
Dátum:2019
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
folyóiratcikk
Megjelenés:European Journal of Human Genetics. - 27 (2019), p. 286. -
További szerzők:Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató) Nagy Orsolya (1990-) (PhD hallgató) Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Zimmermann Alíz Zombor Melinda Horváth E. Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Balogh István (1972-) (molekuláris biológus, genetikus) Sztriha László
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2.

001-es BibID:BIBFORM119059
035-os BibID:(WoS)001147414902541
Első szerző:Csók Ádám (biológus)
Cím:Assessing the potential of miRNA biomarkers for the differential diagnosis of Wilms' tumor and diffuse hyperplastic perilobar nephroblastomatosis / Á. Csók, T. Micsik, Z. Magyar, T. Tornóczky, L. Kuthi, Y. Nishi, B. Soltész, K. Szirák, I. Balogh, G. Buglyó
Dátum:2024
ISSN:1018-4813
Tárgyszavak:Orvostudományok Elméleti orvostudományok idézhető absztrakt
folyóiratcikk
Megjelenés:European Journal Of Human Genetics. - 32 : S1 (2024), p. 553. -
További szerzők:Micsik Tamás Magyar Zsófia Tornóczky Tamás Kuthi Levente Nishi, Yumika Soltész Beáta (1987-) (molekuláris biológus) Szirák Krisztina (1973-) (molekuláris genetikus) Balogh István (1972-) (molekuláris biológus, genetikus) Buglyó Gergely (1980-) (genetikus)
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3.

001-es BibID:BIBFORM044276
Első szerző:Einarsdottir, Elisabet
Cím:Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations / Einarsdottir Elisabet, Bevova Marianna R., Zhernakova Alexandra, Monsuur Alienke, Koskinen Lotta L. E., van't Slot Ruben, Mulder Chris, Mearin M. Luisa, Korponay-Szabo Ilma R., Kaukinen Katri, Kurppa Kalle, Kere Juha, Mäki Markku, Wijmenga Cisca, Saavalainen Päivi
Dátum:2011
ISSN:1018-4813
Megjegyzések:Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes. We performed fine mapping on 446 independent individuals with celiac disease and 641 controls of Dutch origin, testing 872 tagging SNPs in a 22 Mb region of chromosome 6. The 12 most promising SNPs were followed up in 2071 individuals from 284 Finnish and 357 Hungarian celiac disease families to identify risk variants in this region. Multiple markers in the region were significantly associated with celiac disease in the Dutch material. Two SNPs, rs9391227 and rs4946111, were significantly associated with celiac disease in the Finnish population. The association to rs9391227 represents the strongest association signal found in the Finnish (P = 0.003, OR 0.66) as well as the combined Dutch, Finnish and Hungarian populations (P = 3.6 ? 10(-5), OR 0.76). The rs9391227 is situated downstream of the HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene and is contained within a region of strong linkage disequilibrium enclosing HACE1. Two additional, independent, susceptibility variants in the 6q21-22 region were also found in a meta-analysis of the three populations. The 6q21-22 region was confirmed as a celiac disease susceptibility locus and harbors multiple independent associations, some of which may implicate ubiquitin-pathways in celiac disease susceptibility.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:European Journal Of Human Genetics. - 19 : 6 (2011), p. 682-686. -
További szerzők:Bevova, Marianna R. Zhernakova, Alexandra Monsuur, Alienke Koskinen, Lotta L. E. van't Slot, Ruben Mulder, Chris J. Mearin, Maria Luisa Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kaukinen, Katri Kurppa, Kalle Kere, Juha Mäki, Markku Wijmenga, Cisca Saavalainen, Päivi
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DOI
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4.

001-es BibID:bibEBI00021206
Első szerző:Hilgert, Nele
Cím:Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene / Hilgert N., Huentelman M.J., Thorburn A.Q., Fransen E., Dieltjens N., Mueller-Malesinska M., Pollak A., Skorka A., Waligora J., Ploski R., Castorina P., Primignani P., Ambrosetti U., Murgia A., Orzan E., Pandya A., Arnos K., Norris V., Seeman P., Janousek P., Feldmann D., Marlin S., Denoyelle F., Nishimura C.J., Janecke A., Nekahm-Heis D., Martini A., Mennucci E., Tóth T., Sziklai I., Del Castillo I., Moreno F., Petersen M.B., Iliadou V., Tekin M., Incesulu A., Nowakowska E., Bal J., Van de Heyning P., Roux A. F., Blanchet C., Goizet C., Lancelot G., Fialho G., Caria H., Liu X.Z., Xiaomei O., Govaerts P., Gronskov K., Hostmark K., Frei K., Dhooge I., Vlaeminck S., Kunstmann E., Van Laer L., Smith R.J., Van Camp G.
Dátum:2009
Megjegyzések:Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound. We hypothesise that this phenotypic variability is at least partly caused by the influence of modifier genes. By performing a whole-genome association (WGA) study on 35delG homozygotes, we sought to identify modifier genes. The association study was performed by comparing the genotypes of mild/moderate cases and profound cases. The first analysis included a pooling-based WGA study of a first set of 255 samples by using both the Illumina 550K and Affymetrix 500K chips. This analysis resulted in a ranking of all analysed single-nucleotide polymorphisms (SNPs) according to their P-values. The top 250 most significantly associated SNPs were genotyped individually in the same sample set. All 192 SNPs that still had significant P-values were genotyped in a second independent set of 297 samples for replication. The significant P-values were replicated in nine SNPs, with combined P-values between 3 x 10(-3) and 1 x 10(-4). This study suggests that the phenotypic variability in 35delG homozygous patients cannot be explained by the effect of one major modifier gene. Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
connexin 26
35delG
hereditary hearing loss
association study
modifier gene
Megjelenés:European Journal of Human Genetics. - 17 : 4 (2009), p. 517-524. -
További szerzők:Huentelman, Matthew J. Thorburn, Ashley Q. Fransen, Erik Dieltjens, Nele Mueller-Malesinska, Malgorzata Pollak, Agnieszka Skorka, Agata Waligora, Jaroslaw Ploski, Rafal Castorina, Pierangela Primignani, Paola Ambrosetti, Umberto Murgia, Alessandra Orzan, Eva Pandya, Arti Arnos, Kathleen Norris, Virginia Seeman, Pavel Janousek, Petr Feldmann, Delphine Marlin, Sandrine Denoyelle, Francoise Nishimura, Carla J. Janecke, Andreas Nekahm-Heis, Doris Martini, Alessandro Mennucci, Elena Tóth Tímea (1974-) (fül-orr-gégész) Sziklai István (1954-) (fül-orr-gégész) Del Castillo, Ignacio Moreno, Felipe Petersen, Michael B. Iliadou, Vasiliki Tekin, Mustafa Incesulu, Armagan Nowakowska, Ewa Bal, Jerzy Heyning, Paul, van de Roux, Anne-Francoise Blanchet, Catherine Goizet, Cyril Lancelot, Guenaelle Fialho, Graca Caria, Helena Liu, Xue Zhoung Xiaomei, Ouyang Govaerts, Paul Gronskov, Karen Hostmark, Karianne Frei, Klemens Dhooge, Ingeborg Vlaeminck, Stephen Kunstmann, Erdmute Laer, L., Van Smith, Richard J. Camp, Guy, Van
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5.

001-es BibID:BIBFORM073381
035-os BibID:(cikkazonosító)E-P18.36 (WoS)000489312608202
Első szerző:Keserű Judit (molekuláris genetikus)
Cím:Determination of miR-196a Single Nucleotide Polymorphism (SNP) with melting-curve analysis in the population of patients with ovarian cancer / J. S. Keserű, J. Lukács, B. Soltész, K. Szirák, Z. Birkó, A. Penyige, B. Nagy, R. Póka
Dátum:2018
ISSN:1018-4813 1476-5438
Megjegyzések:Introduction: miRNA molecules are short, non-coding sequences regulating gene expression after transcription. They are important in the development, progression and treatability of tumours. Single Nucleotide Polymorphism (SNP) is the most frequent type of genetic polymorphism. That is true also for miRNAs and their polymorphisms can cause alterations in the gene expression profile. miR-196a was also linked to the genesis of different tumours.Aim: Search for correlation between miR-196a polymorphism and development of ovarian cancer.Materials and Methods: 75 patients with ovarian cancer and 75 healthy persons were investigated. 15-16 mL blood anticoagulated with EDTA was drawn. DNA was isolated with silica absorption method and the melting curve of PCR products generated with LightSnip kit (TibMolbiol, Berlin, Germany) developed for miR-196a (rs11614913) SNP was determined by LightCycler 96 equipment. Allele and genotype frequencies were specified and Student t-test was applied for statistical analysis of data.Results: The Tm of PCR products were 55.5?C for T allele and 62.6?C for C allele with melting-curve analysis. T allele occurred in 32.66% in population of patients and in 40.66% in control group. Genotypes among control persons were 18.66% for TT, 44.0% for TC, and 37.33% CC, while in case of patients these frequencies were 12.0%, 41.33%, and 46.66%, respectively (p=0.3815).Conclusion: miR-196a influences the expression of 684 genes, it requires further complex investigation, whether it is involved in the development of ovarian cancer.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
folyóiratcikk
ovarian cancer
miR-196a
SNP
Megjelenés:European Journal of Human Genetics. - 26 : Suppl. (2018), p. 1. -
További szerzők:Lukács János (1975-) (szülész-nőgyógyász, genetikus) Soltész Beáta (1987-) (molekuláris biológus) Szirák Krisztina (1973-) (molekuláris genetikus) Hádáné Birkó Zsuzsanna (1971-) (molekuláris genetikus) Penyige András (1954-) (molekuláris genetikus) Nagy Bálint (1956-) (molekuláris genetikus) Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus)
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6.

001-es BibID:BIBFORM073492
035-os BibID:(WoS)000436456100005 (Scopus)85045735086
Első szerző:Pös, Ondrej (biológus)
Cím:Circulating cell-free nucleic acids : characteristics and applications / Ondrej Pös, Orsolya Biró, Tomas Szemes, Bálint Nagy
Dátum:2018
ISSN:1018-4813
Megjegyzések:Liquid biopsy is becoming a very popular sample obtaining procedure, replacing the invasive sampling methods for the diagnostic protocols. The advantages of this method include the possibility to isolate cell-free nucleic acids (cfNAs) for diagnostic or screening purposes. A comprehensive review combining all current and perspective applications of cell-free nucleic acids is missing. Published articles are dealing with one type of cfNAs, or discuss them from the perspective of single disorder. We collected here all known types of cfNAs which are known to be present in biological fluids and could be involved in further studies to find out the exact biological role of them in normal physiological and pathological conditions. Beyond doubt cfNAs will have a tremendous effect in future screening, diagnosis, prognosis, follow-up, and treatment of cardiovascular diseases, cancer, diabetes and other diseases.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
cell-free nucleic acids
liquid biopsy
application
Megjelenés:European Journal of Human Genetics. - 26 : 7 (2018), p. 937-945. -
További szerzők:Biró Orsolya (molekuláris biológus) Szemes, Tomas (1980-) (biológus) Nagy Bálint (1956-) (molekuláris genetikus)
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7.

001-es BibID:BIBFORM074292
Első szerző:Soltész Beáta (molekuláris biológus)
Cím:Cell-free, long non-coding RNA as novel biomarker in the diagnosis of ovarian cancer / B. Soltesz, J. Lukács, E. Szilágyi, R. Póka, B. Nagy
Dátum:2018
ISSN:1018-4813
Megjegyzések:Background: Ovarian cancer is the fifth leading cause of cancer-associated mortality among women. A reliable, non-invasive diagnostic method may contribute to the early detection of this malignancy. The long non-coding RNAs (lncRNAs) have a significant role in the oncogenesis, metastasis and chemoresistance. The upregulation of Hox transcript antisense intergenic RNA (HOTAIR) was determined in the development of ovarian cancer cells, however, the cell-free HOTAIR expression was not detected from the plasma until now.Materials and methods: Twenty previously untreated ovarian cancer patients (60.60?10.84y; FIGO stages III or IV) and 20 healthy controls (56.70?14.51y) were involved in the study. EDTA blood was drawn; RNA was isolated; cDNA was synthesised and the HOTAIR lncRNA expression were determined by using ExiLERATE LNA? qPCR,for mRNA and long non-coding RNA (Exiqon, USA). ACTB was used as reference gene. Student t-test was applied for the statistical calculations.Results: Higher expression of HOTAIR was detected in the samples of patients with ovarian cancer (1.89?2.39) than in healthy controls (1.39?1.48) but the difference was no significant (p=0.432).Conclusion: We determined the concentration of the cell free HOTAIR lncRNA from the plasma of ovarian cancer patients and healthy controls. There was no significant difference in the expression of the analysed lncRNA; but this is the first study to analyse the cell-free HOTAIR expression among Hungarian ovarian cancer patients. We would like to extend our study on higher number of cases as this lncRNA seem to be novel biomarker for the diagnosis of ovarian cancer.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
ovarian cancer
cell-free
long-noncoding RNA
Megjelenés:Biomedical Papers. - 162 : Suppl. 1 (2018), p. S12. -
További szerzők:Lukács János (1975-) (szülész-nőgyógyász, genetikus) Szilágyi Edina (1993-) (laboratóriumi analitikus) Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus) Nagy Bálint (1956-) (molekuláris genetikus)
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