A5059105056- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Colorectal Cancer Screening and Detection
- RNA Research and Splicing
- Colorectal and Anal Carcinomas
- Multiple and Secondary Primary Cancers
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Inflammatory Bowel Disease
- Sperm and Testicular Function
- Digestive system and related health
- Folate and B Vitamins Research
- Health Systems, Economic Evaluations, Quality of Life
- Anorectal Disease Treatments and Outcomes
- DNA Repair Mechanisms
- Colorectal Cancer Surgical Treatments
- Cytokine Signaling Pathways and Interactions
- Cancer, Hypoxia, and Metabolism
- Acute Lymphoblastic Leukemia research
- Glycogen Storage Diseases and Myoclonus
- Bipolar Disorder and Treatment
- Medical and Biological Ozone Research
- Soft tissue tumor case studies
- Phytochemical compounds biological activities
Universidade Federal do Ceará
2025
University of Naples Federico II
2015-2024
Ceinge Biotecnologie Avanzate (Italy)
2009-2023
Federico II University Hospital
2010-2023
Azienda Ospedaliero Universitaria San Giovanni Battista
2020
Centre Hospitalier Universitaire de Clermont-Ferrand
2016
Regione Campania
2007
Services Hospital
2004
Hospital de Clínicas de Porto Alegre
2004
This paper presents data collected by a Brazilian center in multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and biochemical profile these patients. Twenty‐eight south‐American MPS were evaluated through medical interview, physical exam, echocardiogram, electrocardiogram, ophthalmologic evaluation, quantification glycosaminoglycans (GAGs) urine, measurement activity N...
Mutations in the MLH1 and MSH2 genes account for a majority of cases families with Lynch Syndrome. Germ-line mutations MSH6, PMS2 MLH3 are responsible disease minority cases, usually associated milder variable phenotypes. No germ-line MSH3 have so far been Syndrome, although it is known that impaired activity leads to partial defect mismatch repair (MMR), low levels microsatellite instability at loci dinucleotide repeats colorectal cancer (CRC), thus suggesting role carcinogenesis. To...
<h3>Background</h3> Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a causal relationship between expression level the germline and phenotype variation. As model study this relationship, our aimed define pathogenic characteristics of recurrent homozygous coding variant <i>PMS2</i> displaying an attenuated identified by clinical genetic testing seven Inuit families from Northern...
Juvenile nasopharyngeal angiofibroma (JNA) is a rare, invasive, and locally destructive tumor of the nasopharynx. The Wnt pathway, angiogenetic hormonal factors are involved in pathophysiology JNA; it can result an extracolonic manifestation familial adenomatous polyposis (FAP) or sporadic tumor. All patients who underwent resection JNA between 1991 2006 at University Modena Reggio Emilia were studied to identify immunohistochemical markers associated FAP syndrome. Paraffin-embedded samples...
Epithelial‑to‑mesenchymal transition (EMT) confers stem cell‑like phenotype and more motile properties to carcinoma cells. During EMT, the expression of E‑cadherin decreases, resulting in loss cell‑cell adhesion increased migration. Expression Twist1 other pleiotropic transcription factors, such as Snail, is known activate EMT. We established primary colon cancer cell cultures from samples operated patients validated by cytogenetic molecular biology approaches. Western blot assay,...
To investigated the molecular cause of very early-onset ulcerative colitis (UC) in an 18-mo-old affected child.We analysed interleukin-10 (IL10) receptor genes at DNA and RNA level proband his relatives. Beta catenin tumor necrosis factor-α (TNFα) receptors were proteins extracted from peripheral blood cells proband, relatives familial adenomatous polyposis (FAP) PTEN hamartoma syndrome (PHTS) patients. Samples also collected proband's inflamed colorectal mucosa compared to healthy tumour a...
Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1 and MSH2 . Most of reported these genes to date are point mutations, small deletions, insertions. Large genomic rearrangements MMR predisposing also occur, but frequency varies depending on population studied average from 5 20%. The aim this study was examine contribution large a well-characterised series 63 unrelated Southern Italian patients who were negative for pathogenic , MSH6...
Cellular plasticity, the ability of cells to switch from an epitheial phenotype a mesenchymal one and vice versa, plays crucial role in tumour progression metastases development. In 20-25% patients with colon cancer 18% rectal cancer, are present at time first diagnosis. They cause colorectal (CRC)-related mortality, defining stage IV CRC, which is characterized by relatively short overall survival. We previously isolated two primary adenocarcinoma cell cultures that had undergone...
Abstract Background The "PTEN hamartoma tumor syndrome" (PHTS) includes a group of syndromes caused by germline mutations within the suppressor gene "phosphatase and tensin homolog deleted on chromosome ten" ( PTEN ), characterized multiple polyps in gastrointestinal tract highly increased risk developing malignant tumours many tissues. current work clarifies molecular basis PHTS three unrelated Italian patients, sheds light pathway disregulation constitutively associated to alteration....
Loss of function mismatch repair (MMR) genes, mainly MLH1 and MSH2, manifests as high levels microsatellite instability (MSI) that occurs in >90% carcinomas patients with Lynch syndrome (LS). The MSI‑high status has also been described sporadic colorectal cancer (CRC) associated BRAF gene mutation (V600E); this was not present LS‑associated cancers. study performed MSI analysis on 39 CRC selected according to Bethesda guidelines, V600E genotyping 26 cases classified or MSI‑low (15 MSI‑H 11...