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1.

001-es BibID:BIBFORM113177
035-os BibID:(scopus)85146604450 (wos)000913770900001
Első szerző:Huang, Helen
Cím:Immunological and inflammatory effects of infectious diseases in circadian rhythm disruption and future therapeutic directions / Huang Helen, Mehta Aashna, Kalmanovich Jacob, Anand Ayush, Bejarano Maria Chilo, Garg Tulika, Khan Nida, Tonpouwo Gauvain Kankeu, Shkodina Anastasiia D., Bardhan Mainak
Dátum:2023
ISSN:0301-4851
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Molecular Biology Reports. - 50 : 4 (2023), p. 3739-3753. -
További szerzők:Mehta, Aashna Kalmanovich, Jacob Anand, Ayush Bejarano, Maria Chilo Garg, Tulika Khan, Nida Tonpouwo, Gauvain Kankeu Shkodina, Anastasiia D. Bardhan, Mainak
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DOI
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2.

001-es BibID:BIBFORM023390
Első szerző:Kósa Zsuzsanna
Cím:Catalase - 262C>T polymorphisms in Hungarian vitiligo patients and in controls : further acatalasemia mutations in Hungary / Zsuzsanna Kósa, Zsolt Fejes, Teréz Nagy, Melinda Csordás, Enikő Simics, Éva Remenyik, László Góth
Dátum:2012
Megjegyzések:Catalase is the main regulator of hydrogenperoxide metabolism. In vitiligo patients there areconflicting data on its activity and no data on the effect of-262C[T polymorphism in the catalase gene. Blood catalaseactivity, -262C[T polymorphism and acatalasemiamutations were examined in 75 vitiligo patients and in 162controls, in Hungary. We measured blood catalase activityand conducted analyses with PCR-SSCP, polyacrylamidegel electrophoresis and silver staining in combination withRFLP and nucleotide sequencing. Comparison of the wild(CC) genotype and the mutant (TT) genotype in the vitiligopatients revealed a non significant (P[0.19) increase inblood catalase. Male controls with the CT genotype hadsignificantly (P\0.04) lower blood catalase activity thanCC genotype controls. Female vitiligo patients with CCgenotype had lower (P\0.04) blood catalase than femalecontrols. The frequency of wild genotype (CC) and Calleles is significantly (P\0.04) decreased in Hungariancontrols when compared to controls in Slovenia, Morocco,UK, Greece, Turkey, USA, China. The detection of a novelacatalasemia mutation (37C[T in exon 9) and the 113G[A(exon 9) mutation in Hungary are further proofs of geneticheterogeneity origin of acatalasemia mutations. In conclusion,the -262 C[T polymorphism has a reverse effecton blood catalase in vitiligo patients and in controls. Incontrols the mutant genotypes and alleles are more frequentin Hungary than in several other populations. The newacatalasemia mutations are further examples of heterogeneityof acatalasemia.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Acatalasemia
Catalase gene mutations
Screening
RFLP
Vitiligo
Megjelenés:Molecular Biology Reports 39 : 4 (2012), p. 4787-4795. -
További szerzők:Fejes Zsolt (1988-) (molekuláris biológus) Nagy Teréz (1971-) (molekuláris biológus) Csordás Melinda Simics Enikő (bőrgyógyász) Remenyik Éva (1956-) (bőrgyógyász) Góth László (1943-) (analitikus)
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
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3.

001-es BibID:BIBFORM080278
Első szerző:Nagy Orsolya (PhD hallgató)
Cím:The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development / Orsolya Nagy, Judit Kárteszi, Marianna Hartwig, Rita Bertalan, Eszter Jávorszky, Éva Erhardt, Attila Patócs, Tamás Tornóczky, István Balogh, Anikó Ujfalusi
Dátum:2019
ISSN:0301-4851
Megjegyzések:Gonadal dysgenesis (GD) is a rare cause of differences of sex development (DSD) with highly variable clinical and genetic conditions. Although identification of the causative genetic alterations can offer a clearer prognosis and personalized management to patients, more than 50% of the DSD cases still do not have an accurate genetic diagnosis. NR5A1 (previously known as SF-1), is a transcriptional regulator of genes required for normal development and functional maintenance of the gonads and the adrenal glands. Nucleotide sequence variants of the NR5A1 gene have been reported in numerous patients with GD with or without adrenal failure, however, microdeletion or partial deletion in the NR5A1 gene have been described only in a few GD cases. In this case study, we present a subject with female phenotype, mild clitoromegaly, partial GD and normal adrenal function. Cytogenetic analysis revealed a 46,XY SRY?+?karyotype. Microarray analysis did not identify pathogenic copy number variations, nor did panel sequencing of the most common DSD genes. Subsequently, multiplex ligation-dependent probe amplification (MLPA) was performed to test for small deletion/duplication of the most frequently affected genes associated with GD. Using this method, we have identified a novel heterozygous deletion involving exons 5 and 6 of the NR5A1 gene as the cause of abnormal sexual development of the patient. This report expands our knowledge about the range and pathogenetic role of NR5A1 mutations associated with partial gonadal dysgenesis in 46,XY DSD. Furthermore, our data emphasises the indispensable role of MLPA in the diagnosis of DSD with unclear etiology.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Molecular Biology Reports. - 46 : 5 (2019), p. 5595-5601. -
További szerzők:Kárteszi Judit Hartwig Marianna Bertalan Rita Jávorszky Eszter (gyermekgyógyász) Erhardt Éva Patócs Attila Tornóczky Tamás Balogh István (1972-) (molekuláris biológus, genetikus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos)
Pályázati támogatás:GINOP-2.3.2-15-2016-00039
GINOP
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Intézményi repozitóriumban (DEA) tárolt változat
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4.

001-es BibID:BIBFORM110606
035-os BibID:(WOS)000982394000002 (Scopus)85158168651
Első szerző:Schwarcz Szandra (PhD hallgató)
Cím:The pro- and antineoplastic effects of deoxycholic acid in pancreatic adenocarcinoma cell models / Schwarcz Sz., Kovács P., Kovács T., Ujlaki Gy., Nyerges P., Uray K., Bai P., Mikó E.
Dátum:2023
ISSN:0301-4851
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Molecular Biology Reports. - 50 : 6 (2023), p. 5273-5282. -
További szerzők:Kovács Patrik (1993-) (molekuláris biológus) Kovács Tünde (1990-) (biokémikus, molekuláris biológus) Ujlaki Gyula (1991-) (molekuláris biológus) Nyerges Petra (1999-) (biológus) Uray Karen (1964-) (biokémikus) Bai Péter (1976-) (biokémikus) Mikó Edit (1980-) (biológus)
Pályázati támogatás:TKP2021-EGA-19
Egyéb
TKP2021-EGA-20
Egyéb
Post-COVID-2021-33
Egyéb
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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5.

001-es BibID:BIBFORM015677
Első szerző:Sun, Xiao
Cím:The role of actin and myosin during spermatogenesis / Sun Xiao, Kovacs Tamas, Hu Yan-Jun, Yang Wan-Xi
Dátum:2010
ISSN:0301-4851
Megjegyzések:Spermatogenesis is a transitionary process in which the diploid spermatogonia transform into haploid mature spermatozoa. Actin and myosin have been implicated in various aspects during spermatogenesis. Actin is present in the form of monomer, oligomer and polymer within cells, the latter is called microfilament. There are five actin-containing structures during spermatogenesis, i.e., ectoplasmic specialization, acroplaxome, manchette in mammals, actin cones in Drosophila and acroframosome in Caridean shrimp. They are involved in the shaping and differentiating of spermatids. Along with spermatogenesis, the actin cytoskeletons show active remodeling in this process. Some actin binding or actin regulated proteins have been demonstrated to regulate dynamic changes of the actin-containing structures. Myosin, actin-dependent molecular motor, plays an important role during spermatogenesis, such as involving in acrosome biogenesis, vesicle transport, gene transcription and nuclear shaping. The actin cytoskeleton and actin binding/regulated proteins cooperate to facilitate spermatogenesis. In this review, we summarize the existing knowledge about the cytoskeletal structures consisting of actin, actin binding/regulated proteins and myosin during spermatogenesis.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
actin
myosin
spermatogenesis
acrosome biogenesis
nuclear shaping
Megjelenés:Molecular Biology Reports. - 38 : 6 (2010), p. 3993-4001. -
További szerzők:Kovács Tamás (1959-) (szülész-nőgyógyász, humángenetikus) Hu, Yan-Jun Yang, Wan-Xi
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6.

001-es BibID:BIBFORM044035
Első szerző:Szabó Melinda
Cím:Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis / Szabo Melinda, Safrany Eniko, Pazar Borbala, Melegh Bela I., Kisfali Peter, Poor Gyula, Figler Maria, Szekanecz Zoltan, Czirjak Laszlo, Melegh Bela
Dátum:2013
ISSN:0301-4851
Megjegyzések:Haplotype tagging SNPs of interleukin-23 receptor gene rs1004819, rs7517847, rs7530511, rs2201841, rs1343151 and rs10889677 were determined in 396 patients with rheumatoid arthritis, 190 patients with Crohn's disease, 206 patients with ankylosing spondylitis and 182 controls. Using regression analysis models the rs1004819, rs2201841, and rs10889677 SNPs were found to confer risk for Crohn's disease and ankylosing spondylitis, while rs1343151 had a protective effect in both of these diseases, and the rs2201841 and rs10889677 SNPs showed susceptibility nature for rheumatoid arthritis. Using these SNPs we could study the susceptibility haplotype profiles in these diseases with special attention to the rheumatoid arthritis, first in the literature. Seven different haplotypes could be differentiated. We found that the SNPs exert their susceptibility character in specific haplotype blocks: thus, for rheumatoid arthritis the rs1343151 SNP was risk factor only in a specific haplotype surrounding; this can explain the controversial results published so far about this variant. More importantly, we observed, that while a specific haplotype can confer risk for rheumatoid arthritis, the same haplotype tended to protect against the development of the other two diseases. The data presented here serve evidence for the need of haplotype analysis instead of just single standing SNP analysis when susceptibility to or protection against a certain disease are interpreted.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Interleukin-23 receptor gene
Autoimmune disease
SNP
Megjelenés:Molecular Biology Reports. - 40 : 1 (2013), p. 359-363. -
További szerzők:Sáfrány Enikő Pazár Borbála Melegh Béla I. Kisfali Péter Poór Gyula Figler Mária Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Czirják László Melegh Béla
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