0000000000256354

AUTHOR

Bence Sipos

showing 3 related works from this author

Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis.

2018

ObjectiveHomozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we evaluated the impact of the two most relevant AAT variants (‘Pi*Z’ and ‘Pi*S’), present in up to 10% of Caucasians, on subjects with non-alcoholic fatty liver disease (NAFLD) or alcohol misuse.DesignWe analysed multicentric case–control cohorts consisting of 1184 people with biopsy-proven NAFLD and of 2462 people with chronic alcohol misuse, both cohorts comprising cases with cirrhosis and controls without cirrhosis. Genotyping for the Pi*Z and Pi*S variants was performed.ResultsThe Pi*Z variant presented in 13.8% of p…

0301 basic medicineMalemedicine.medical_specialtyHeterozygoteCirrhosisMedizinSingle-nucleotide polymorphismDiseaseGastroenterologyPolymorphism Single NucleotideRisk Assessment03 medical and health sciences0302 clinical medicineAge DistributionLiver Cirrhosis AlcoholicNon-alcoholic Fatty Liver DiseaseInternal medicineGermanymedicinePiConfidence IntervalsOdds RatioHumansGenetic Predisposition to DiseaseRisk factorSex DistributionGenotypingLiver injurybusiness.industryGenetic Carrier ScreeningIncidenceFatty liverBiopsy NeedleGastroenterologyGenetic Variationmedicine.diseasePrognosisImmunohistochemistry030104 developmental biologyAustriaCase-Control Studiesalpha 1-Antitrypsin030211 gastroenterology & hepatologyFemalebusinessGut
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Somatostatin-producing neuroendocrine tumors of the duodenum and pancreas: incidence, types, biological behavior, association with inherited syndrome…

2008

Somatostatin-producing neuroendocrine tumors (SOM-NETs) of the duodenum and pancreas appear to be heterogeneous. To determine their clinicopathological profiles, respective data were analyzed on a series of 82 duodenal and 541 pancreatic NETs. In addition, the clinical records of 821 patients with duodenal or pancreatic NETs were reviewed for evidence of a somatostatinoma syndrome. Predominant or exclusive expression of somatostatin was found in 21 (26%) duodenal and 21 (4%) pancreatic NETs. They were classified as sporadic (n=31) or neurofibromatosis type 1 (NF1)-associated duodenal NETs (n=3), gangliocytic paragangliomas (GCPGs; n=6), or poorly differentiated neuroendocrine carcinomas (pd…

AdultMaleCancer Researchmedicine.medical_specialtyEndocrinology Diabetes and Metabolism610 Medicine & healthNeuroendocrine tumorsGastroenterologyParagangliomaEndocrinologyDuodenal NeoplasmsInternal medicine10049 Institute of Pathology and Molecular PathologySomatostatinomaMultiple Endocrine Neoplasia Type 1MedicineHumansMEN11306 Cancer ResearchGenetic Predisposition to DiseaseNeurofibromatosisMultiple endocrine neoplasia610 Medicine & healthAgedAged 80 and overbusiness.industryIncidenceSyndromeSomatostatinomaMiddle Agedmedicine.diseasePrognosis1310 EndocrinologyPancreatic Neoplasms2712 Endocrinology Diabetes and MetabolismNeuroendocrine Tumorsmedicine.anatomical_structureSomatostatinOncologyDuodenum570 Life sciences; biology2730 OncologyFemalebusinessPancreasSomatostatinFollow-Up Studies
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Pattern of secondary genomic changes in pancreatic tumors ofTgfα/Trp53+/−transgenic mice

2003

Trp53+/− mice overexpressing Tgfα in a pancreas-specific manner represent a well-established animal model for pancreatic cancer. In this study we analyzed 38 pancreatic adenocarcinomas of these mice for secondary genomic changes by comparative genomic hybridization (CGH), loss of heterozygosity (LOH) analysis, real-time PCR, and methylation-specific analysis. CGH screening of the tumors revealed a recurrent pattern of genomic changes. In more than 50% of the tumors, chromosome 11 was affected. The gain of the proximal part spans about 16 cM, including the genes for Egfr, Rel, and Stk10. The distal part of chromosome 11, which contains the Trp53 locus, was deleted. LOH analysis proved that a…

Cancer ResearchLocus (genetics)Biologymedicine.diseaseMolecular biologyLoss of heterozygosityChromosome 15Chromosome 4CDKN2APancreatic cancerDNA methylationGeneticsmedicineComparative genomic hybridizationGenes, Chromosomes and Cancer
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