SCIENTIFIC PRODUCTION

  • D’Angelo R, Esposito T, Calabrò M, Rinaldi C, Robledo R, Varriale B, Sidoti A. FMO3 allelic variants in Sicilian and Sardinian populations: trimethylaminuria and absence of fish-like body odor. Gene. 2013 Feb 25;515(2):410-5. doi: 10.1016/j.gene.2012.12.047. Epub 2012 Dec 21. PMID: 23266626.
  • D’Angelo R, Scimone C, Esposito T, Bruschetta D, Rinaldi C, Ruggeri A, Sidoti A. Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report. J Med Case Rep. 2014 Oct 6;8:328. doi: 10.1186/1752-1947-8-328. PMID: 25288227; PMCID: PMC4190592. [OPEN ACCESS]
  • Esposito T, Varriale B, D’Angelo R, Amato A, Sidoti A. Regulation of flavin-containing mono-oxygenase (Fmo3) gene expression by steroids in mice and humans. Horm Mol Biol Clin Investig. 2014 Dec;20(3):99-109. doi: 10.1515/hmbci-2014-0012. PMID: 25460299.
  • Scimone C, Donato L, Rinaldi C, Sidoti A, D’Angelo R. First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation. J Dig Dis. 2016 Sep;17(9):628-632. doi: 10.1111/1751-2980.12373. PMID: 27335202.
  • Scimone C., Donato L., Alibrandi S., D’Angelo R., Sidoti A. (2018). Gut microbiota in metabolic and inflammatory diseases. Life Safety And Security. doi: 10.12882/2283-7604.2018.6.6 [OPEN ACCESS]
  • D’Angelo R., Monastra F., Scimone C., Alibrandi S., Donato L., Sidoti A. (2019). Identification of new possible genes involved in trimethylaminuria. Life Safety And Security. doi: 10.12882/2283-7604.2019.7.2. [OPEN ACCESS]
  • Scimone C., Alibrandi S., Donato L., Esposito T., Sidoti A., D’Angelo R. Variants of the molecular chaperone HSPA8 and HSPA1A genes in trimethylaminuria: a pilot study. EMBJ. 2020,15 (38) 157–160. doi: 10.3269/1970-5492.2020.15.38. [OPEN ACCESS]
  • Scimone, C.; Alibrandi, S.; Donato, L.; Giofre, S.V.; Rao, G.; Sidoti, A.; D’Angelo, R. Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin. J Clin Pharm Ther 2020, 10.1111/jcpt.13315, doi:10.1111/jcpt.13315.
  • Donato, L.; Alibrandi, S.; Scimone, C.; Castagnetti, A.; Rao, G.; Sidoti, A.; D’Angelo, R. Gut-Brain Axis Cross-Talk and Limbic Disorders as Biological Basis of Secondary TMAU. J. Pers. Med. 2021, 11, 87. https://doi.org/10.3390/jpm11020087. [OPEN ACCESS]

OUR SCIENTIFIC PRODUCTION (LAST 5 YEARS)

  • Scimone C, Donato L, Alibrandi S, Esposito T, Alafaci C, D’Angelo R, Sidoti A. Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells. Biochim Biophys Acta Mol Basis Dis. 2020 Aug 30;1866(12):165956. doi: 10.1016/j.bbadis.2020.165956. Epub ahead of print. PMID: 32877751.
  • Scimone, C.; Granata, F.; Longo, M.; Mormina, E.; Turiaco, C.; Caragliano, A.A.; Donato,L.; Sidoti, A.; D’Angelo, R. Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis. Int. J. Mol. Sci. 2020, 21, 4321. doi:10.3390/ijms21124321
  • Donato, L., Scimone, C., Alibrandi, S., R., Rinaldi, C., Sidoti, A., D’Angelo, R. (2020). Discovery of GLO1 new related genes and pathways by RNA-Seq on A2E-stressed retinal epithelial cells could improve knowledge on retinitis pigmentosa. Antioxidants 2020, 9(5), 416; doi:10.3390/antiox9050416
  • Donato, L., D’Angelo R., Alibrandi, S., Rinaldi, C., Sidoti, A., Scimone, C. Effects of A2E-induced oxidative stress on retinal epithelial cells: new insights on retinitis pigmentosa development. Antioxidants 2020, 9, 307; doi:10.3390/ antiox9040307
  • Donato, L., Scimone, C., Alibrandi, S., R., Rinaldi, C., Sidoti, A., D’Angelo, R. Transcriptome analyses of lncRNAs in A2E-stressed retinal epithelial cells unveil innovative links between metabolic impairments related to oxidative stress and retinitis pigmentosa. Antioxidants 2020, 9, 318. doi: 10.3390/antiox9040318
  • Scimone, C., Donato, L., Alafaci, C., Granata, F., Rinaldi, C., Longo, M., D’Angelo, R., Sidoti, A. (2020). High-Throughput Sequencing to detect novel Likely Gene-Disrupting variants in pathogenesis of sporadic brain arteriovenous malformations. Front. Genet. doi: 10.3389/fgene.2020.00146
  • G. Rao, L. Donato, C. Scimone, S. Alibrandi, A. Costa, R. D’Angelo, Antonina Sidoti (2020). Misure di prevenzione secondaria per un più efficace contrasto alle complicanze multiorgano della pandemia da sars-cov-2 (nell’immediato ed a lungo termine) come overlap syndrome: interazioni eziofisiopatogenetiche tra caratteristiche intrinseche di patogeneticita’ del virus ed esposizione cronica a particolato ultrafine atmosferico. Life Safety And Security. doi: 10.12882/2283-7604.2020.8.3
  • Donato, L., Scimone, C., Rinaldi, C., D’Angelo, R., Sidoti, A. Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing? Journal of Ocular Diseases and Therapeutics, 2019, 7, 1-11. doi: 10.12974/2309-6136.2019.07.1
  • Donato L., Alibrandi S., Scimone C., D’Angelo R., Sidoti A. (2019). Retinitis pigmentosa: an update on animal models and genome editing technologies. Life Safety And Security. doi: 10.12882/2283-7604.2019.7.5
  • Donato L., Lauro R., Scimone C., D’Angelo R., Costa A., Calamuneri A., Sidoti A. (2019). Novel genes involved in etiopathogenesis of retinitis pigmentosa orphan forms. Life Safety And Security. doi: 10.12882/2283-7604.2019.7.3
  • Scimone C., Donato L., Alibrandi S., D’Angelo R., Sidoti A. (2019). The impact of air pollution on human health. Life Safety And Security. doi: 10.12882/2283-7604.2019.7.4
  • Romano, C.G., Mangiaracina, R.,Donato, L., D’Angelo, R., Scimone, C., & Sidoti, A. (2019). Aged fingerprints for DNA profile: First report of successful typing. Forensic Sci Int, 302, 109905. doi:10.1016/j.forsciint.2019.109905
  • Donato, L., Scimone, C., Rinaldi, C., D’Angelo, R., and Sidoti, A. (2019). Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: a pilot study. EMBJ.14 (30) 130-133. doi: 10.3269/1970-5492.2019.14.30
  • Scimone, C., Donato, L., Marino, S., D’Angelo, R., and Sidoti, A. (2018). Vis-à-Vis: a focus on Cerebral Cavernous Malformations and Brain Arteriovenous Malformations pathogenesis. Neurological Sciences. 40(2):243-251.
  • Concetta Scimone, Luigi Donato, Zoe Katsarou, Sevasti Bostantjopoulou, Rosalia D’Angelo, Antonina Sidoti (2018). Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance. FRONT. NEUROL.9:953.
  • Donato L., Scimone C., Alibrandi S., D’Angelo R., Sidoti A. (2018). Implementing guidelines for genetic tests improves personalized diagnoses in medical practice. LIFE SAFETY AND SECURITY. doi: 10.12882/2283-7604.2018.6.4.
  • Donato L., Scimone C., Alibrandi S., D’Angelo R., Sidoti A. (2018). The balance between eye – related pathways regulates retinitis pigmentosa onset: a review of molecular mechanisms. Life Safety And Security. doi: 10.12882/2283-7604.2018.6.5.
  • Donato L, Scimone C, Nicocia G, Denaro L, Robledo R, Sidoti A, D’Angelo R. (2018). GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case-control study in a Sicilian population. Mol Bio Rep. 45(5):1349-1355.
  • Donato L, Scimone C, Rinaldi C, Aragona P, Briuglia S, D’Ascola A, D’Angelo R, Sidoti A (2018). Stargardt phenotype associated with two ELOVL4 promoter variants and ELOVL4 down-regulation: new possible perspective to etiopathogenesis? IOVS. 59(2):843-857.
  • Donato L, Bramanti P, Scimone C, Rinaldi C, Giorgianni F, Beranova-Giorgianni S, Koirala D,  D’Angelo R,Sidoti A. (2018). miRNA expression profile of retinal pigment epithelial cells under oxidative stress conditions. FEBS OPEN BIO. 8(2):219-233.
  • Calamuneri A.,Donato L.,Scimone C.,Costa A.,D’Angelo R.,Sidoti A. (2017). On Machine Learning in Biomedicine. Life Safety And Security. doi: 10.12882/2283-7604.2017.5.12
  • Scimone C, Donato L, Esposito T, Rinaldi C, D’Angelo R, Sidoti A. (2017). A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. HUM GENOMICS. 1;11(1):18.
  • Scimone C.,Donato L.,Alibrandi S.,Velardi, E.,D’Angelo R.,Sidoti A.(2017). Genetic factors in cerebrovascular diseases. Life Safety And Security. doi: 10.12882/2283-7604.2017.5.13.
  • Rinaldi C, Bramanti P, Scimone C, Donato L, Alafaci C, D’Angelo R, Sidoti A. (2017).
    Relevance of CCM genes polymorphisms for clinical management of sporadic cerebral cavernous malformations. Journal of the Neurological Sciences. 380: 31-37.
  • D’Angelo R, Donato L, Venza I, Scimone C, Aragona P, Sidoti A. (2017). Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. INT J MOL MED, 39: 1011-1020.
  • Donato L., Scimone C., Alibrandi S., D’Angelo R., Sidoti A. (2017). The new era of non-coding RNAs: the state of art and future perspectives in advanced molecular therapies. Life Safety And Security. doi: 10.12882/2283-7604.2017.5.10.
  • Scimone C, Bramanti P, Alafaci C, Granata F, Piva F, Rinaldi C, Donato L, Greco F, Sidoti A, D’Angelo R. (2017). Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. J Mol Neurosci. Feb;61(2):189-198
  • Bentivegna E., Donato L., Scimone C., Vivaldi R., Mularo S., Citarrella E., Mavaro G., D’Angelo R., Sidoti A. (2017). Role of prostaglandins and ultrasound debridement in healing of septic ulcers and fistula – complication of prostheses in osteomyelitis infected knee. Life Safety And Security. doi:10.12882/2283-7604.2017.5.6.
  • Donato, L., Scimone, C., D’Angelo, R., Sidoti, A. (2017). Predictive and personalized approaches towards retinitis pigmentosa and cerebral cavernous malformations. Life Safety And Security. doi: 10.12882/2283-7604.2017.5.2.
  • Concetta Scimone; Placido Bramanti; Alessia Ruggeri; Luigi Donato; Concetta Alafaci; Concetta Crisafulli; Massimo Mucciardi; Carmela Rinaldi; Antonina Sidoti; Rosalia D’Angelo. (2016). CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. BMC Med Genet, 17(1), 74.
  • Rinaldi C, Bramanti P, Famà A, Scimone C, Donato L, Antognelli C, Alafaci C, Tomasello F, D’Angelo R, Sidoti A. (2015). GLYOXALASE I A111E, PARAOXONASE 1 Q192R AND L55M POLYMORPHISMS IN ITALIAN PATIENTS WITH SPORADIC CEREBRAL CAVERNOUS MALFORMATIONS: A PILOT STUDY. J Biol Regul Homeost Agents. 29(2):493-500.
  • Scimone C, Bramanti P, Ruggeri A, Katsarou Z, Donato L, Sidoti A, D’Angelo R. (2015). Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations. J Mol Neurosci.57(3):400-3.
  • Rosalia D’Angelo, Carmela Rinaldi, Alessia Ruggeri, Giacomo Nicocia, Antonina Sidoti (2015). The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promoter causes Gilbert’s syndrome. Ann. Clin Lab. Sci. Spring;45(2):202-5.