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001-es BibID:	BIBFORM045921
Első szerző:	Losonczy Gergely (szemész)
Cím:	Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma / Gergely Losonczy, Ferenc Fazakas, György Pfliegler, István Komáromi, Erzsébet Balázs, Krisztina Pénzes, András Berta
Dátum:	2013
ISSN:	1471-2350
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	BMC Medical Genetics. - 14 : 3 (2013), p. 1-8. -
További szerzők:	Fazakas Ferenc (1969-) (molekuláris biológus) Pfliegler György (1949-) (belgyógyász, hematológus, labor szakorvos) Komáromi István (1957-) (vegyész, molekuláris biológus, biokémikus) Balázs Erzsébet (1952-) (szemész) Pénzes-Daku Krisztina (1978-) (biológus) Berta András (1955-) (szemész, gyermekszemész)
Pályázati támogatás:	K 68616 OTKA
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM006786
Első szerző:	Patócs Attila
Cím:	Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family / Patocs, A., Gergics, P., Balogh, K., Toth, M., Fazakas, F., Liko, I., Racz, K.
Dátum:	2008
ISSN:	1471-2350
Megjegyzések:	Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by development of cystic and tumorous lesions at multiple sites, including the brain, spinal cord, kidneys, adrenals, pancreas, epididymis and eyes. The clinical phenotype results from molecular abnormalities of the VHL tumor suppressor gene, mapped to human chromosome 3p25-26. The VHL gene encodes two functionally active VHL proteins due to the presence of two translational initiation sites separated by 53 codons. The majority of disease-causing mutations have been detected downstream of the second translational initiation site, but there are conflicting data as to whether few mutations located in the first 53 codons, such as the Pro25Leu could have a pathogenic role. In this paper we report a large Hungarian VHL type 2 family consisting of 32 members in whom a disease-causing AGT80AAT (Ser80Ile) c.239G>A, p.Ser80Ile mutation, but not the concurrent CCT25CTT (Pro25Leu) c.74C>T, p.Pro25Leu variant co-segregated with the disease. To our knowledge, the Ser80Ile mutation has not been previously described in VHL type 2 patients with high risk of pheochromocytoma and renal cell cancer. Therefore, this finding represents a novel genotype-phenotype association and VHL kindreds with Ser80Ile mutation will require careful surveillance for pheochromocytoma. We concluded that the Pro25Leu variant is a rare, neutral variant, but the presence such a rare gene variant may make genetic counseling difficult.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Amino Acid Sequence Female Humans Male Mutation Pedigree Protein Structure, Secondary Sequence Alignment
Megjelenés:	BMC Medical Genetics [electronic resource]. - 9 : 29 (2008), p. 1-8. -
További szerzők:	Gergics Péter Balogh Katalin Tóth Miklós (Budapest) Fazakas Ferenc (1969-) (molekuláris biológus) Liko István Rácz Károly (Budapest)
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001-es BibID:	BIBFORM016390
Első szerző:	Penyige András (molekuláris genetikus)
Cím:	Analyses of association between PPAR gamma and EPHX1 polymorphisms and susceptibility to COPD in a Hungarian cohort, a case-control study / Penyige András, Póliska Szilárd, Csánky Eszter, Scholtz Beáta, Dezső Balázs, Schmelczer Iván, Kilty Iain, Takács László, Nagy László
Dátum:	2010
ISSN:	1471-2350
Megjegyzések:	In addition to smoking, genetic predisposition is believed to play a major role in the pathogenesis of chronic obstructive pulmonary disease (COPD). Genetic association studies of new candidate genes in COPD may lead to improved understanding of the pathogenesis of the disease.Methods: Two proposed casual single nucleotide polymorphisms (SNP) (rs1051740, rs2234922) in microsomal epoxide hydrolase (EPHX1) and three SNPs (rs1801282, rs1800571, rs3856806) in peroxisome proliferator-activated receptor gamma (PPARG), a new candidate gene, were genotyped in a case-control study (272 COPD patients and 301 controls subjects) in Hungary. Allele frequencies and genotype distributions were compared between the two cohorts and trend test was also used to evaluate association between SNPs and COPD. To estimate the strength of association, odds ratios (OR) (with 95% CI) were calculated and potential confounding variables were tested in logistic regression analysis. Association between haplotypes and COPD outcome was also assessed.Results: The distribution of imputed EPHX1 phenotypes was significantly different between the COPD and the control group (P = 0.041), OR for the slow activity phenotype was 1.639 (95% CI = 1.08- 2.49; P = 0.021) in our study. In logistic regression analysis adjusted for both variants, also age and pack-year, the rare allele of His447His of PPARG showed significant association with COPD outcome (OR = 1.853, 95% CI = 1.09-3.14, P = 0.0218). In haplotype analysis the GC haplotype of PPARG (OR = 0.512, 95% CI = 0.27-0.96, P = 0.035) conferred reduced risk for COPD.Conclusions: The "slow" activity-associated genotypes of EPHX1 were associated with increased risk of COPD. The minor His447His allele of PPARG significantly increased; and the haplotype containing the minor Pro12Ala and the major His447His polymorphisms of PPARG decreased the risk of COPD.
Tárgyszavak:	Természettudományok Biológiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	BMC Medical Genetics [electronic resource]. - 11 (2010), p. 152. -
További szerzők:	Póliska Szilárd (1978-) (biológus) Csánky Eszter (1959-) (tüdőgyógyász, klinikai immunológus, allergológus) Scholtz Beáta (1967-) (biokémikus, molekuláris biológus) Dezső Balázs (1951-) (pathológus) Schmelczer Iván Kilty, Iain Takács László (1955-) Nagy László (1966-) (molekuláris sejtbiológus, biokémikus)
Pályázati támogatás:	NKFP 1/007/01 Egyéb
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM090236
Első szerző:	Sümegi Andrea (biológus)
Cím:	A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary / Sümegi Andrea, Hendrik Zoltán, Gáll Tamás, Felszeghy Enikő, Szakszon Katalin, Antal-Szalmás Péter, Beke Lívia, Papp Ágnes, Méhes Gábor, Balla József, Balla György
Dátum:	2020
ISSN:	1471-2350 1471-2350
Megjegyzések:	Background: Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 (EIF2AK3) gene. Methods: Genetic analysis of a consanguineous family where two children were diagnosed with WRS was performed by Sanger sequencing. The altered protein was investigated by in vitro cloning, expression and immunohistochemistry. Results: The first cases in Hungary, ? two patients in one family, where the parents were fourth-degree cousins - showed the typical clinical features of WRS: early onset diabetes mellitus with hyperglycemia, growth retardation, infection-induced multiple organ failure. The genetic background of the disease was a novel alteration in the EIF2AK3 gene involving the splice site of exon 11? intron 11?12 boundary: g.53051_53062delinsTG. According to cDNA sequencing this created a new splice site and resulted in a frameshift and the development of an early termination codon at amino acid position 633 (p.Pro627AspfsTer7). Based on in vitro cloning and expression studies, the truncated protein was functionally inactive. Immunohistochemistry revealed that the intact protein was absent in the islets of pancreas, furthermore insulin expressing cells were also dramatically diminished. Elevated GRP78 and reduced CHOP protein expression were observed in the liver. Conclusions: The novel genetic alteration causing the absence of the EIF2AK3 protein resulted in insufficient handling of severe endoplasmic reticulum stress, leading to liver failure and demise of the patients. taa, km
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Wolcott-Rallison syndrome EIF2AK3 gene Endoplasmic reticulum stress PERK protein Splice site variant Indel alteration
Megjelenés:	BMC Medical Genetics. - 21 : 61 (2020), p. 1-12. -
További szerzők:	Hendrik Zoltán (1986-) (orvos) Gáll Tamás (1982-) (molekuláris biológus, mikrobiológus) Felszeghy Enikő Noémi (1970-) (gyermekgyógyász) Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos) Beke Lívia Papp Ágnes (1967-) (gyermekgyógyász, pulmonológus) Méhes Gábor (1966-) (patológus) Balla József (1959-) (belgyógyász, nephrológus) Balla György (1953-) (csecsemő és gyermekgyógyász, neonatológus)
Pályázati támogatás:	GINOP-2.3.2-15-2016-00043 GINOP EFOP-3.6.2-16-2017-00006 EFOP OTKA-112233 OTKA ED_18-1-2019-0028 Egyéb
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