A5036678155- Thyroid Cancer Diagnosis and Treatment
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Thyroid Disorders and Treatments
- DNA Repair Mechanisms
- Animal Genetics and Reproduction
- Cancer-related gene regulation
- Developmental Biology and Gene Regulation
- Ubiquitin and proteasome pathways
- Genetics and Neurodevelopmental Disorders
- Histone Deacetylase Inhibitors Research
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Renal and related cancers
- Protein Degradation and Inhibitors
- Genetic factors in colorectal cancer
- RNA Research and Splicing
- Cancer-related Molecular Pathways
- RNA and protein synthesis mechanisms
- Acute Myeloid Leukemia Research
- Genomics and Rare Diseases
- Congenital heart defects research
- Blood Coagulation and Thrombosis Mechanisms
University of Udine
2016-2025
Ospedale Santa Maria della Misericordia di Udine
2016-2025
University of Messina
2024
Agostino Gemelli University Polyclinic
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2002-2024
Ospedale Santa Maria
2024
University of Belgrade
2023
Wellcome Sanger Institute
2017
Sapienza University of Rome
2017
Società Italiana di Medicina Generale
2016
To explore the effect of fluctuating glucose on endothelial cells, human umbilical vein cells were incubated for 14 days in media containing different concentrations: 5 mmol/l, 20 or a daily alternating mmol/l glucose. Apoptosis was studied by methods: viability assay, cell cycle analysis, DNA fragmentation, and morphological analysis. Furthermore, levels Bcl-2 Bax, well known proteins involved apoptosis, evaluated. Stable high induced apoptosis phenomenon accompanied significant decrease...
There is an individual susceptibility to diabetic nephropathy, and oxidative stress believed play important role in the pathogenesis of complications. Active oxygen species induce antioxidant enzyme expression tissues, effect considered be a defensive mechanism. To test whether altered intracellular production might explain predisposition we studied long-term (12 weeks) exposure normal (5 mmol/l) or high (22 glucose concentrations on fibroblast gene protein activity type 1 patients with...
Gene duplication is a major driver of evolutionary divergence. In most vertebrates single PAX6 gene encodes transcription factor required for eye, brain, olfactory system, and pancreas development. zebrafish, following postulated whole-genome event in an ancestral teleost, duplicates pax6a pax6b jointly fulfill these roles. Mapping the homozygously viable eye mutant sunrise identified homeodomain missense change pax6b, leading to loss target binding. The mild phenotype emphasizes...
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify risks for female carriers mutations. We investigated—for first time to our knowledge—associations common with male BRCA1/ 2 implications prediction. Materials Methods genotyped 1,802 from Consortium Investigators Modifiers by using custom Illumina OncoArray. investigated combined effects established susceptibility on constructing weighted polygenic scores (PRSs) published effect...
AIMS: To investigate the immunocytochemical expression of tissue specific transcription factor-1 (TTF-1) on cytological specimens small cell lung carcinoma (SCLC) and to establish its value in diagnosis cancer. METHODS: For each case, was made confirmed subsequent bronchial biopsy specimens. TTF-1 detected immunocytochemically using avidinbiotin complex technique with a rabbit antiserum. Expression evaluated 41 cases SCLC 17 non-small (NSCC). The latter were subdivided into eight...
Abstract Apurinic apyrimidinic endonuclease/redox effector factor 1 (APE1/Ref‐1) protects cells from oxidative stress by acting as a central enzyme in base excision repair pathways of DNA lesions and through its independent activity redox transcriptional co‐activator. Dysregulation this protein has been associated with cancer development. At present, contrasting data have published regarding the biological relevance two functions well molecular mechanisms involved. Here, we combined both...
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 and 11 Gillespie syndrome (iris hypoplasia, ataxia mild to moderate developmental delay). Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing two FOXC1. Six deletions plausible cis-regulatory effects identified: five that 3ʹ (telomeric) one...
Bromodomain and Extra‐Terminal (BET) proteins are historically involved in regulating gene expression BRD4 was recently found to be DNA damage regulation. Aims of our study were assess regulation homologous recombination‐mediated repair explore novel clinical strategies through the combinations pharmacological induction epigenetic BRCAness BRCA1 wild‐type triple negative breast cancer (TNBC) cells by means BET inhibitors compounds already available clinic. Performing a dual approach...
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially anterior segment dysgenesis (ASD), have created challenges for proper diagnosis classification of diseases. Over the last decade, genomic research has indeed boosted our understanding molecular basis ASD genes associated with both autosomal dominant recessive patterns inheritance been described a wide range expressivity. Here we describe characterization cohort 162 patients displaying isolated or syndromic...
The thyroid transcription factor 1 (TTF-1) is a homeodomain-containing protein implicated in the activation of thyroid-specific gene expression. Here we report that TTF-1 capable activating from thyroglobulin and, to lesser extent, thyroperoxidase promoters nonthyroid cells. Full transcriptional promoter by requires presence at least two binding sites. activates via functionally redundant domains as suggested competition experiments, could use common intermediary factor....
Journal Article Sequence-specific DNA recognition by the thyroid transcription factor-1 homeodomain Get access G. Damante, Damante * *To whom correspondence should be addressed Search for other works this author on: Oxford Academic PubMed Google Scholar D. Fabbro, Fabbro L. Pellizzari, Pellizzari Civitareale, Civitareale 1European Molecular Biology LaboratoryMeyerhofstrasse 1, Heidelberg, Germany S. Guazzi, Guazzi M. Polycarpou-Schwartz, Polycarpou-Schwartz Cauci, Cauci F. Quadrifoglio,...