Találati lista | Tudóstér

001-es BibID:	BIBFORM073913
Első szerző:	Buglyó Gergely (genetikus)
Cím:	The Wilms' tumour 1 gene as a factor in non-syndromic hypospadias : evidence and controversy / Buglyó Gergely, Beyer Dániel, Biró Sándor, Oláh Éva
Dátum:	2018
ISSN:	0031-3025
Megjegyzések:	Hypospadias is one of the most frequent congenital anomalies of the male external genitalia. Its pathogenesis is due to largely unknown or poorly understood genetic factors and is further complicated by environmental?intrauterine?risk factors. One of the genes currently in focus by molecular biologists and clinicians studying syndromic forms of hypospadias is the Wilms' tumour 1 (WT1) gene. There is controversy over whether WT1 defects are also responsible for isolated hypospadias. In this review, we briefly cover the role of WT1 as a transcription factor and discuss proposed pathogenic pathways leading to hypospadias, outlining possible directions for research. We assess available evidence on the gene's mutations and polymorphisms recently suggested in the background of the disease, and examine the putative role of WT1-associated proteins. We also review relevant aspects of genome-wide association studies carried out so far, and raise some points to consider in future efforts.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Hypospadias WT1 gene rs2234583 WTIP gene WTAP gene
Megjelenés:	Pathology 50 : 4 (2018), p. 377-381. -
További szerzők:	Beyer Dániel (1982-) (molekuláris biológus) Biró Sándor (1949-) (molekuláris genetikus) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM072676
Első szerző:	Buglyó Gergely (genetikus)
Cím:	Nucleotide Transition 390C-T in the Wilms' Tumor 1 Gene : a Risk Factor of Hypospadias? / Buglyó Gergely, Magyar Ágnes, Biró Sándor, Csízy István, Beyer Dániel, Molnár Kinga, Oláh Éva
Dátum:	2017
ISSN:	1661-7649 1661-7657
Megjegyzések:	Introduction: The gene Wilms' tumor 1 (WT1) encodes a unique transcription factor. Its defects are known to cause a wide range of complex genitourinary malformations and may contribute to non-syndromic forms of hypospadias. Materials and Methods: We performed WT1 mutation analysis and copy number analysis of WT1-interacting protein (WTIP) in 13 Hungarian patients diagnosed with isolated hypospadias. Results: Sequencing of WT1 revealed a high frequency of heterozygosity for transition 390C?T (5 heterozygotes out of 13 patients, including 2 brothers). WTIP had a normal copy number in all patients. Conclusions: Nucleotide substitution 390C?T may play a role in the pathogenesis of non-syndromic hypospadias. The genotype?phenotype correlation should be confirmed by a larger-scale analysis.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban WT1 gene WTIP gene Rs2234583 hypospadias
Megjelenés:	Current Urology 10 : 3 (2017), p. 136-139. -
További szerzők:	Magyar Ágnes (1979-) (gyermeksebész) Biró Sándor (1949-) (molekuláris genetikus) Csízy István (1948-) (gyermekgyógyász, gyermeksebész) Beyer Dániel (1982-) (molekuláris biológus) Molnár Kinga Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM061085
035-os BibID:	(WoS)000366646400030 (Scopus)84951573719
Első szerző:	Ujj Zsófia
Cím:	WT1 Expression in Adult Acute Myeloid Leukemia : assessing its Presence, Magnitude and Temporal Changes as Prognostic Factors / Zsófia Ujj, Gergely Buglyó, Miklós Udvardy, Dániel Beyer, György Vargha, Sándor Biró, László Rejtő
Dátum:	2016
ISSN:	1219-4956 1532-2807
Megjegyzések:	Expression of the gene Wilms tumor 1 (WT1) has been suggested as a marker of minimal residual disease in acute myeloid leukemia (AML), but literature data are not without controversy. Our aimwas to assess the presence, magnitude and temporal changes ofWT1 expression as prognostic factors. 60 AML patients were followed until death or the end of the 6-year observation period. Blood samples were taken at diagnosis, post-induction, during remission and in case of a relapse. Using quantitative real-time PCR, we determined WT1 expression from each sample, normalized it against the endogenous control gene glyceraldehyde 3-phosphate dehydrogenase (GAPDH), and classified samples as negative, moderately positive or highly positive. We divided the patients into groups based on detected WT1 expression values, illustrated overall and disease-free survival on Kaplan-Meier curves, and compared differences between each group by the logrank test. Disappearance of WT1-positivity during chemotherapy had a favorable effect on survival. Interestingly, no difference was seen between the survivals of WT1-positive subgroups that expressed moderate or high levels of WT1 mRNA. A 1-log decrease in WT1 expression without becoming negative did not affect prognosis, either. Our results suggest that defining a cut-off value for WT1-positivity, rather than just using logarithmic figures of changes in gene expression, might have prognostic use in post-induction AML patients. We encourage further, larger-scale studies.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk WT1 gene Overexpression Quantitative real-time PCR Acute myeloid leukemia
Megjelenés:	Pathology & Oncology Research. - 22 : 1 (2016), p. 217-221. -
További szerzők:	Buglyó Gergely (1980-) (genetikus) Udvardy Miklós (1947-) (belgyógyász, haematológus) Beyer Dániel (1982-) (molekuláris biológus) Vargha György (1951-) (orvos) Biró Sándor (1949-) (molekuláris genetikus) Rejtő László (1963-) (belgyógyász, haematológus)
Pályázati támogatás:	TÁMOP-4.2.2.A-11/1/KONV-2012-0025 TÁMOP
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: