CCL

Összesen 5 találat.
#/oldal:
Részletezés:
Rendezés:

1.

001-es BibID:BIBFORM091542
Első szerző:Buglyó Gergely (genetikus)
Cím:Exploring WAGR syndrome: genotype-phenotype associations in the 11p13 region / G. Buglyo, S. Biro, K. Szakszon, J. Matyus, G. Mehes, G. Vargha, E. Olah, B. Nagy
Dátum:2019
ISSN:1018-4813
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
folyóiratcikk
Megjelenés:European Journal Of Human Genetics. - 27 : S2 (2019), p. 1532. -
További szerzők:Biró Sándor (1949-) (molekuláris genetikus) Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Mátyus János (1957-) (belgyógyász, nephrológus) Méhes Gábor (1966-) (patológus) Vargha György (1951-) (orvos) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus) Nagy Bálint (1956-) (molekuláris genetikus)
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

2.

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)
Internet cím:Szerző által megadott URL
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

3.

001-es BibID:BIBFORM066488
035-os BibID:(WoS)000394114500021 (Scopus)84978036042
Első szerző:Paulussen, Aimee D. C.
Cím:Rare novel variants in the ZIC3 gene cause X-linked heterotaxy / Aimee D. C. Paulussen, Anja Steyls, Jo Vanoevelen, Florence H. J. van Tienen, Ingrid P. C. Krapels, Godelieve R. F. Claes, Sonja Chocron, Crool Velter, Gita M. Tan-Sindhunata, Catarina Lundin, Irene Valenzuela, Balint Nagy, Iben Bache, Lisa Leth Maroun, Kristiina Avela, Han G. Brunner, Hubert J. M. Smeets, Jeroen Bakkers, Arthur van den Wijngaard
Dátum:2016
ISSN:1018-4813
Megjegyzések:Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangement of thoracic and visceral organs. Several reports have shown relevance of ZIC3 gene variants in both familial and sporadic cases and with a predominance of mutations detected in zinc-finger domains. No studies so far have assessed the functional consequences of ZIC3 variants in an in vivo model organism. A study population of 348 patients collected over more than 10 years with a large variety of congenital heart disease including heterotaxy was screened for variants in the ZIC3 gene. Functional effects of three variants were assessed both in vitro and in vivo in the zebrafish. We identified six novel pathogenic variants (1,7%), all in either male patients with heterotaxy (n=5) or a female patient with multiple male deaths due to heterotaxy in the family (n=1). All variants were located within the zinc-finger domains or leading to a truncation before these domains. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins, whereas the missense variant showed normal trafficking. Overexpression of wild-type and mutated ZIC protein in zebrafish showed full non-functionality of the two frame-shift variants and partial activity of the missense variant compared with wild-type, further underscoring the pathogenic character of these variants. Concluding, we greatly expanded the number of causative variants in ZIC3 and delineated the functional effects of three variants using in vitro and in vivo model systems.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
heterotaxy
congenital heart defects
ZIC3
X-linked
gene
Megjelenés:European Journal Of Human Genetics. - 24 : 12 (2016), p. 1783-1791. -
További szerzők:Steyls, Anja Vanoevelen, Jo van Tienen, Florence H. J. Krapels, Ingrid P. C. Claes, Godelieve R. F. Chocron, Sonja Velter, Crool Tan-Sindhunata, Gita M. Lundin, Catarina Valenzuela, Irene Nagy Bálint (1956-) (molekuláris genetikus) Bache, Iben Maroun, Lisa Leth Avela, Kristiina Brunner, Han G. Smeets, Hubert J. M. Bakkers, Jeroen van den Wijngaard, Arthur
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

4.

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)
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

5.

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)
Internet cím:Szerző által megadott URL
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Rekordok letöltése1