Search Results - "D’Angelo, Rosalia"

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment by Donato, Luigi, Alibrandi, Simona, Scimone, Concetta, Rinaldi, Carmela, Dascola, Angela, Calamuneri, Alessandro, D'Angelo, Rosalia, Sidoti, Antonina

“…Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain…”
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Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling by Donato, Luigi, Abdalla, Ebtesam Mohamed, Scimone, Concetta, Alibrandi, Simona, Rinaldi, Carmela, Nabil, Karim Mahmoud, D'Angelo, Rosalia, Sidoti, Antonina

“…Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of…”
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Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells by Scimone, Concetta, Donato, Luigi, Alibrandi, Simona, Esposito, Teresa, Alafaci, Concetta, D'Angelo, Rosalia, Sidoti, Antonina

“…Cerebral cavernous malformations (CCM) are lesions affecting brain capillaries that appear with a mulberry-like morphology. This shape results from the…”
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Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations by Rinaldi, Carmela, Bramanti, Placido, Scimone, Concetta, Donato, Luigi, Alafaci, Concetta, D'Angelo, Rosalia, Sidoti, Antonina

“…Cerebral cavernous malformations (CCMs) are clusters of capillaries in the brain that may cause focal deficits or seizures in affected patients. They occur in…”
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Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy by Acri, Giuseppe, Micali, Antonio, D'Angelo, Rosalia, Puzzolo, Domenico, Aragona, Pasquale, Testagrossa, Barbara, Aragona, Emanuela, Wylegala, Edward, Nowinska, Anna

“…The genetic and histopathological features of the cornea of a Polish patient with Gelatinous Drop-like Corneal Dystrophy (GDCD) and the molecular composition…”
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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 by D'Angelo, Rosalia, Donato, Luigi, Venza, Isabella, Scimone, Concetta, Aragona, Pasquale, Sidoti, Antonina

“…In the wide horizon of ophthalmologically rare diseases among retinitis pigmentosa forms, Stargardt disease has gradually assumed a significant role due to its…”
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Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance by Scimone, Concetta, Donato, Luigi, Katsarou, Zoe, Bostantjopoulou, Sevasti, D'Angelo, Rosalia, Sidoti, Antonina

“…Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in…”
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Gut-Brain Axis Cross-Talk and Limbic Disorders as Biological Basis of Secondary TMAU by Donato, Luigi, Alibrandi, Simona, Scimone, Concetta, Castagnetti, Andrea, Rao, Giacomo, Sidoti, Antonina, D'Angelo, Rosalia

“…: Trimethylaminuria (TMAU) is a rare metabolic syndrome characterized by the accumulation and the excretion of trimethylamine (TMA), a volatile diet compound…”
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Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration by Donato, Luigi, Scimone, Concetta, Alibrandi, Simona, Mordà, Domenico, Anchesi, Ivan, Scalinci, Sergio Zaccaria, Rinaldi, Carmela, D'Angelo, Rosalia, Sidoti, Antonina

“…This pilot study investigates the potential pathogenic role of G-quadruplex (G4) structures in RPGR-associated retinal degeneration, starting from a case of…”
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Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation by Scimone, Concetta, Donato, Luigi, Alibrandi, Simona, Conti, Alfredo, Bortolotti, Carlo, Germanò, Antonino, Alafaci, Concetta, Vinci, Sergio Lucio, D'Angelo, Rosalia, Sidoti, Antonina

“…Arteriovenous malformation of the brain (bAVM) is a vascular phenotype related to brain defective angiogenesis. Involved vessels show impaired expression of…”
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The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis by Donato, Luigi, Scimone, Concetta, Alibrandi, Simona, Vadalà, Maria, Castellucci, Massimo, Bonfiglio, Vincenza Maria Elena, Scalinci, Sergio Zaccaria, Abate, Giorgia, D'Angelo, Rosalia, Sidoti, Antonina

“…Maternally inherited diabetes and deafness (MIDD) is a complex disorder characterized by multiorgan clinical manifestations, including diabetes, hearing loss,…”
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Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations by Scimone, Concetta, D'Angelo, Rosalia, Alibrandi, Simona, Nicita, Fabiana, Donato, Luigi, Sidoti, Antonina

“…Cerebral Cavernous Malformations (CCM) are vascular lesions affecting brain microvessels. While molecular bases of the sporadic condition are not yet well…”
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New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? by Donato, Luigi, Scimone, Concetta, Alibrandi, Simona, Abdalla, Ebtesam Mohamed, Nabil, Karim Mahmoud, D'Angelo, Rosalia, Sidoti, Antonina

“…Ion channels are membrane-spanning integral proteins expressed in multiple organs, including the eye. Here, ion channels play a role in several physiological…”
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Oxidative Stress and the Neurovascular Unit by Rinaldi, Carmela, Donato, Luigi, Alibrandi, Simona, Scimone, Concetta, D'Angelo, Rosalia, Sidoti, Antonina

“…The neurovascular unit (NVU) is a relatively recent concept that clearly describes the relationship between brain cells and their blood vessels. The components…”
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Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? by Donato, Luigi, Scimone, Concetta, Rinaldi, Carmela, Aragona, Pasquale, Briuglia, Silvana, D'Ascola, Angela, D'Angelo, Rosalia, Sidoti, Antonina

“…Stargardt disease (STGD) is the most common form of inherited juvenile macular degeneration. It is inherited as autosomal recessive trait (STGD1), although…”
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GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population by Donato, Luigi, Scimone, Concetta, Nicocia, Giacomo, Denaro, Lucia, Robledo, Renato, Sidoti, Antonina, D’Angelo, Rosalia

“…Glyoxalase 1 (GLO1) is a ubiquitous cellular enzyme involved in detoxification of methylglyoxal (MGO), a cytotoxic byproduct of glycolysis, whose excess can…”
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Efficacy of an experimental gaseous ozone-based sterilization method for clear aligners by Nicita, Fabiana, Calapaj, Massimo, Alibrandi, Simona, Donato, Luigi, Aquilio, Emidio, D'Angelo, Rosalia, Sidoti, Antonina

“…To assess effectiveness of an experimental sterilization method based on the exposure of an O3/O2 gas mixture directly inside the packaging for clear aligners…”
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Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis by Scimone, Concetta, Donato, Luigi, Marino, Silvia, Alafaci, Concetta, D’Angelo, Rosalia, Sidoti, Antonina

“…Cerebrovascular malformations include a wide range of blood vessel disorders affecting brain vasculature. Neuroimaging differential diagnosis can result…”
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Retraction Note: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis by Donato, Luigi, Scimone, Concetta, Rinaldi, Carmela, D’Angelo, Rosalia, Sidoti, Antonina

“…This article has been retracted…”
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Aged fingerprints for DNA profile: First report of successful typing by Romano, Carlo Giovanni, Mangiaracina, Rosaria, Donato, Luigi, D’Angelo, Rosalia, Scimone, Concetta, Sidoti, Antonina

“…•Fingerprint and STR profile for personal identification.•Not degraded DNA purified from aged fingerprint.•Informative profile from aged fingerprint…”
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