Publications by authors named "Concetta Scimone"

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Combined exome and RNA-seq analysis in patients with rare non-syndromic inherited brain arteriovenous malformation suggests a novel function for PTPN13 in arterial specification.
Simona Alibrandi, Domenico Mordà, Antonino Germanò, Alfredo Conti, Sergio Lucio Vinci, Concetta Scimone

Thromb Res· January 2026

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Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity.
Domenico Mordà, Simona Alibrandi, Concetta Scimone, Carmela Rinaldi, Sergio Zaccaria Scalinci

Prog Retin Eye Res· November 2025

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Multifaceted disruption of AMPA receptor signaling by variants: Integrated evidence from human genetics and molecular simulation.
Simona Alibrandi, Domenico Mordà, Concetta Scimone, Giorgia Abate, Ignacio Babiloni Chust

Comput Struct Biotechnol J· October 2025

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QMR and Patient Blood-Derived Secretome Modulate RPE microRNA Networks Under Oxidative Stress.
Simona Alibrandi, Domenico Mordà, Concetta Scimone, Angela D'ascola, Federica Aliquò

Int J Mol Sci· September 2025

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Computational Evidence for Digenic Contribution of and Rare Variants in Inherited Retinal Dystrophy.
Simona Alibrandi, Concetta Scimone, Giorgia Abate, Sergio Zaccaria Scalinci, Antonina Sidoti

Int J Mol Sci· September 2025

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First report of PDCD10 somatic mutation in liver cavernous malformation.
Simona Alibrandi, Luigi Donato, Domenico Mordà, Giuseppe Navarra, Agata Tonante, Concetta Scimone

Mol Biol Rep· May 2025

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Mechanotransduction in Development: A Focus on Angiogenesis.
Simona Alibrandi, Carmela Rinaldi, Sergio Lucio Vinci, Alfredo Conti, Luigi Donato, Concetta Scimone

Biology (Basel)· March 2025

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Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies.
Antonina Sidoti, Rosalia D'Angelo, Andrea Castagnetti, Elisa Viciani, Concetta Scimone

Biology (Basel)· November 2024

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Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation.
Concetta Scimone, Luigi Donato, Simona Alibrandi, Alfredo Conti, Carlo Bortolotti

Heliyon· August 2024

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The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis.
Luigi Donato, Concetta Scimone, Simona Alibrandi, Maria Vadalà, Massimo Castellucci

Heliyon· July 2024

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From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases.
Luigi Donato, Domenico Mordà, Concetta Scimone, Simona Alibrandi, Rosalia D'Angelo

Free Radic Biol Med· June 2024

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Investigating G-quadruplex structures in gene: Implications for understanding X-linked retinal degeneration.
Luigi Donato, Concetta Scimone, Simona Alibrandi, Domenico Mordà, Ivan Anchesi

Heliyon· April 2024

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Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer-Perusini's Disease and Retinal Dystrophies.
Luigi Donato, Domenico Mordà, Concetta Scimone, Simona Alibrandi, Rosalia D'Angelo

Biomedicines· December 2023

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How Many Alzheimer-Perusini's Atypical Forms Do We Still Have to Discover?
Luigi Donato, Domenico Mordà, Concetta Scimone, Simona Alibrandi, Rosalia D'Angelo

Biomedicines· July 2023

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Human retinal secretome: A cross-link between mesenchymal and retinal cells.
Luigi Donato, Concetta Scimone, Simona Alibrandi, Sergio Zaccaria Scalinci, Domenico Mordà

World J Stem Cells· July 2023

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Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells.
Concetta Scimone, Simona Alibrandi, Luigi Donato, Giuseppe Valerio De Gaetano, Carmela Fusco

Biochim Biophys Acta Mol Cell Res· June 2023

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The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Luigi Donato, Simona Alibrandi, Concetta Scimone, Carmela Rinaldi, Angela Dascola

PLoS One· December 2022

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Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs.
Concetta Scimone, Luigi Donato, Simona Alibrandi, Concetta Alafaci, Angela D'Ascola

Am J Physiol Cell Physiol· October 2022

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Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration.
Luigi Donato, Concetta Scimone, Simona Alibrandi, Sergio Zaccaria Scalinci, Carmela Rinaldi

Antioxidants (Basel)· September 2022

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Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis.
Concetta Scimone, Luigi Donato, Simona Alibrandi, Rosalia D'Angelo, Antonina Sidoti

Microvasc Res· May 2022

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Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations.
Concetta Scimone, Luigi Donato, Antonina Sidoti

Neural Regen Res· January 2022

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Editome landscape of CCM-derived endothelial cells.
Concetta Scimone, Simona Alibrandi, Luigi Donato, Concetta Alafaci, Antonino Germanò

RNA Biol· January 2022

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Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.
Simona Alibrandi, Fabiana Nicita, Luigi Donato, Concetta Scimone, Carmela Rinaldi

Molecules· November 2021

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Oxidative Stress and the Neurovascular Unit.
Carmela Rinaldi, Luigi Donato, Simona Alibrandi, Concetta Scimone, Rosalia D'Angelo

Life (Basel)· July 2021

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New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies.
Luigi Donato, Concetta Scimone, Carmela Rinaldi, Rosalia D'Angelo, Antonina Sidoti

Neural Comput Appl· June 2021

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