A5019634289- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Cell Adhesion Molecules Research
- Genetic Syndromes and Imprinting
- Genetic and rare skin diseases.
- Renal Diseases and Glomerulopathies
- Connective tissue disorders research
- Biomedical Research and Pathophysiology
- Prenatal Screening and Diagnostics
- Genetic factors in colorectal cancer
- Hedgehog Signaling Pathway Studies
- Inflammatory mediators and NSAID effects
- Cancer Genomics and Diagnostics
- Platelet Disorders and Treatments
- RNA Interference and Gene Delivery
- melanin and skin pigmentation
- Cancer and Skin Lesions
- Cystic Fibrosis Research Advances
- Nonmelanoma Skin Cancer Studies
- Genomic variations and chromosomal abnormalities
- Glutathione Transferases and Polymorphisms
- RNA regulation and disease
- Skin and Cellular Biology Research
- Genomics and Chromatin Dynamics
- Pediatric Urology and Nephrology Studies
University of Turin
2024
University of Verona
2004-2020
Fondazione IRCCS Istituto Nazionale dei Tumori
2015-2016
Ljubljana University Medical Centre
1997
University of Bologna
1997
University of Padua
1996
University of Utah
1990
Polycystin-1 and polycystin-2 are the products of <i>PKD1</i> <i>PKD2,</i> genes that mutated in most cases autosomal dominant polycystic kidney disease. Polycystin-2 shares ∼46% homology with pore-forming domains a number cation channels. It has been suggested may function as subunit an ion channel whose activity is regulated by polycystin-1. Here we report identification human gene, <i>PKDL</i>, which encodes new member polycystin protein family designated polycystin-L. Polycystin-L 50%...
Journal Article A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) a large three-generation Italian family Get access Alberto E. Turco, Turco * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Sandro Rossetti, Rossetti Elena Bresin, Bresin Stefano Corra, Corra Linda Gammaro, Gammaro 1Division of Medical Nephrology, The University Verona School...
Overexpression of cyclooxygenase-2 (COX-2), resulting in excessive prostaglandin production, has been observed human epidermal keratinocytes after ultraviolet B injury, squamous cell skin carcinoma (SCC), actinic keratoses, and the early stages carcinogenesis a wide variety tissues. The dysregulation COX-2 expression can part be due to functional changes affecting regulatory elements promoter or 3' untranslated region (UTR) gene. Two common polymorphisms (-765G-->C, -1195A-->G) gene (now...
Sixty-seven Italian patients with autosomal dominant polycystic kidney disease (ADPKD) were screened for mutations in the 3′ unique region of PKD1 gene, using heteroduplex DNA analysis. Novel aberrant bands detected 3 from same family. sequencing showed a C to T transition exon 44 (C12269T), resulting premature stop codon (R4020X), predicted impair synthesis putative intracytoplasmic C-terminus tail protein, polycystin. The mutation also generates novel DdeI restriction site, and abnormal...
Abstract: Solid organ transplant recipients are at higher risk of non‐melanoma skin cancer (NMSC), especially basal cell carcinoma (BCC) and squamous (SCC). Genetic alterations in the production detoxifying enzymes such as glutathione S‐transferase (GST) CYP1A1 may enhance this risk. We investigated frequency GST genotypes (GSTM1, GSTM3, GSTT1 GSTP1) 239 recipients: 107 cases with NMSC 132 controls free from matched for type transplanted organ, duration transplantation, sex age. Allele...
Background Basal cell carcinoma (BCC) is 10 times more frequent in organ transplant recipients (OTRs) than the general population. Factors OTRs conferring increased susceptibility to BCC include ultraviolet radiation exposure, immunosuppression, viral infections such as human papillomavirus, phototype and genetic predisposition. The PTCH1 gene a negative regulator of hedgehog pathway, that provides mitogenic signals basal cells skin. mutations cause naevoid syndrome, contribute development...
<h3>Abstract</h3> Prognostic models to predict the risk of clinical deterioration in acute COVID-19 are required inform management decisions. Among 75,016 consecutive adults across England, Scotland and Wales prospectively recruited ISARIC Coronavirus Clinical Characterisation Consortium (ISARIC4C) study, we developed validated a multivariable logistic regression model for in-hospital (defined as any requirement ventilatory support or critical care, death) using 11 routinely measured...
In clinical research, many potentially useful variables are available via the routine activity of cancer center-based registries (CCCR). We present experience breast registry at Fondazione IRCCS “Istituto Nazionale dei Tumori” to give an example how a CCCR can be planned, implemented, and used. Five criteria were taken into consideration while planning our CCCR: (a) administrative databases ought exploited maximum extent; (b) open source software should used; (c) Web-based interface must...
The long noncoding RNA (lncRNA) metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) has been implicated in melanoma. Polymorphisms MALAT1 may play a vital role the progress of melanoma by its regulative function. However, potential genetic variants affecting risk onset have not explored. In this study, two single nucleotide polymorphisms (rs3200401 and rs619586) were selected for genotyping 334 patients 291 cancer-free controls an Italian population. results showed that rs3200401...
Abstract This study focuses on spastic paraplegia type 50 (SPG50), an adapter protein complex 4 deficiency syndrome caused by mutations in the subunit mu‐1 ( AP4M1 ) gene, and downstream alterations of protein. We applied a battery heterogeneous computational resources, encompassing two in‐house tools described here for first time, to (a) assess druggability potential AP4M1, (b) characterize SPG50‐associated their 3D scenario, (c) identify mutation‐tailored drug candidates SPG50, (d)...