Genomes and Genes
Affiliation: University of Rome Tor Vergata
- Severe erytrodermic psoriasis in child twins: from clinical-pathological diagnosis to treatment of choice through genetic analyses: two case reportsElena Campione
Department of Dermatology, Tor Vergata University of Rome, Rome, Italy
BMC Res Notes 7:929. 2014..The therapy should be tailored on each aetiology, if possible. The biochemical and metabolic imbalance should be corrected, and particular attention should be paid to the psychosocial behavior often related to this disfiguring disease...
- Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomasLaura Diluvio
Department of Dermatology, University of Tor Vergata, Rome, Italy
BMC Dermatol 14:7. 2014..This can be linked to an increased risk of renal cancer in both sexes. The skin involvement is described to highlight the diagnostic role of the cutaneous counterpart in identifying this rare syndrome...
- Role of p63 and the Notch pathway in cochlea development and sensorineural deafnessAlessandro Terrinoni
Biochemistry Laboratory Istituto Dermopatico Dell Immacolata, c o Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, 00133 Rome, Italy
Proc Natl Acad Sci U S A 110:7300-5. 2013....
- Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing lossAlessandro Terrinoni
Biochemistry Laboratory, IDI IRCCS, c o Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy
Biochem Biophys Res Commun 395:25-30. 2010..We discuss the pathogenesis of both the hearing and skin phenotypes...
- Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulationAlessandro Terrinoni
Biochemistry Laboratory, IDI IRCCS, c o Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
Biochem Biophys Res Commun 394:909-14. 2010..These results help to explain the pathogenesis of both the hearing and skin phenotypes, since calcium is also a potent regulator of the epidermal differentiation process...
- p63 is upstream of IKK alpha in epidermal developmentEleonora Candi
Biochemistry Laboratory, IDI IRCCS, University of Rome Tor Vergata, 00133 Rome, Italy
J Cell Sci 119:4617-22. 2006..We also found that DeltaNp63 upregulates IKKalpha indirectly, through GATA-3. Our data are consistent with a role for p63 directly upstream of IKKalpha in epithelial development...
- Scotin: A new p63 target gene expressed during epidermal differentiationLoredana Zocchi
IDI IRCCS Biochemistry Laboratory, c o University of Tor Vergata, Department of Experimental Medicine, Via Montpellier 1, 00133 Rome, Italy
Biochem Biophys Res Commun 367:271-6. 2008..We conclude that Scotin is a new p63 target gene induced during epithelial differentiation, a complex process that also involves ER stress induction...
- DeltaNp63 regulates thymic development through enhanced expression of FgfR2 and Jag2Eleonora Candi
Biochemistry Laboratory, Istituto Dermopatico dell Immacolata Istituto di Ricovero e Cura a Carattere Scientifico, Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy
Proc Natl Acad Sci U S A 104:11999-2004. 2007..The action of DeltaNp63 is not due to a direct regulation of TEC differentiation, but it is compatible with maintenance of their "stemness," the thymic abnormalities resulting from epithelial failure due to loss of stem cells...
- p63 regulates glutaminase 2 expressionArianna Giacobbe
Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome, Italy
Cell Cycle 12:1395-405. 2013..Altogether, our findings demonstrate that GLS2 is a bona fide TAp63 target gene, and that the TAp63-dependent regulation of GLS2 is important for both physiological and pathological processes...
- miR-24 triggers epidermal differentiation by controlling actin adhesion and cell migrationIvano Amelio
Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, Rome, Italy
J Cell Biol 199:347-63. 2012..Our results uncover a new regulatory pathway involving a differentiation-promoting microribonucleic acid that regulates actin adhesion dynamics in human and mouse epidermis...
- The sterile alpha-motif (SAM) domain of p63 binds in vitro monoasialoganglioside (GM1) micellesStefano Rufini
Department of Biology, University of Tor Vergata, 00133 Rome, Italy
Biochem Pharmacol 82:1262-8. 2011..Therefore, we propose a potential biological role of p63-GM1 interaction in regulation of p63 during epidermal differentiation...
- Common fragile sites in colon cancer cell lines: role of mismatch repair, RAD51 and poly(ADP-ribose) polymerase-1Patrizia Vernole
Department of Public Health and Cell Biology, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy
Mutat Res 712:40-8. 2011..Our results indicate that MMR modulates colon cancer sensitivity to chromosomal breaks and CFS induced by APC and RAD51 silencing...
- Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndromeBiagio Didona
Dermatology Division, IDI IRCCS, Via Monti di Creta, 104, Rome, Italy
J Hum Genet 52:865-70. 2007..These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease...
- p63 and p73, members of the p53 gene family, transactivate PKCdeltaRaffaella Ponassi
Biochemistry Laboratory, IDI IRCCS, c o University of Rome Tor Vergata, 00133 Rome, Italy
Biochem Pharmacol 72:1417-22. 2006..The results obtained demonstrated that, at least in vitro, the p53 family members tested (TAp63alpha, TAp73alpha, DeltaNp63alpha, but not DeltaNp73alpha) were able to drive transcription from the PKCdelta promoter...
- Kaposi's sarcoma in a patient treated with imatinib mesylate for chronic myeloid leukemiaElena Campione
Department of Dermatology, University of Rome Tor Vergata, Rome, Italy
Clin Ther 31:2565-9. 2009..Flare of Kaposi's sarcoma (KS) is well described in immunosuppressed patients treated with corticosteroids and rituximab, but has not yet been reported during treatment with imatinib...
- Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratodermaAlessandro Terrinoni
II Dermatological Division, Istituto Dermopatico dell Immacolata, IDI IRCCS, Rome, Italy
Eur J Dermatol 14:375-8. 2004....
- p73-alpha is capable of inducing scotin and ER stressAlessandro Terrinoni
Biochemistry Laboratory, IDI IRCCS, Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy
Oncogene 23:3721-5. 2004..This molecular mechanism might contribute to the effector events inducing apoptosis downstream of p73...
- MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1Rossella Menghini
Department of Internal Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
Circulation 120:1524-32. 2009..miR-217 regulates the expression of silent information regulator 1 (SirT1), a major regulator of longevity and metabolic disorders that is progressively reduced in multiple tissues during aging...
- Inhibition of homologous recombination by treatment with BVDU (brivudin) or by RAD51 silencing increases chromosomal damage induced by bleomycin in mismatch repair-deficient tumour cellsPatrizia Vernole
Department of Public Health and Cellular Biology, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
Mutat Res 664:39-47. 2009..In MMR-deficient cells, BVDU attenuates the repair of BLM-induced DSBs and this is likely to occur via inhibition of HR...
- Involvement of the endocannabinoid system in retinal damage after high intraocular pressure-induced ischemia in ratsCarlo Nucci
Physiopathological Optics, Department of Biopathology and Diagnostic Imaging, University of Rome Tor Vergata, Rome, Italy
Invest Ophthalmol Vis Sci 48:2997-3004. 2007....
- Transglutaminase 5 is regulated by guanine-adenine nucleotidesEleonora Candi
Department of Experimental Medicine and Biochemical Sciences, Biochemistry LAb IDI IRCCS, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
Biochem J 381:313-9. 2004..Taken together, these results indicate that TGases are a complex family of enzymes regulated by calcium, with at least three of them, namely TGase2, TGase3 and TGase5, also being regulated by ATP and GTP...