Publications by authors named "Giuseppina Conteduca"

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A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.
Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi, Silvia Viaggi, Barbara Testa, Giuseppina Conteduca

Genes (Basel)· October 2025

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Immunoregulatory properties of cell free DNA.
Francesca Ferrera, Tiziana Altosole, Samuele Tardito, Giuseppina Astone, Cinzia Bernardi, Giuseppina Conteduca

Cell Mol Life Sci· August 2025

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Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency.
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Renata Bocciardi

Stem Cell Res· June 2025

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Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.
Giuseppina Conteduca, Davide Cangelosi, Chiara Baldo, Alessia Arado, Barbara Testa

Genes (Basel)· August 2024

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A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.
Martina Siracusano, Caterina Dante, Rachele Sarnataro, Lucrezia Arturi, Assia Riccioni, Giuseppina Conteduca

Am J Med Genet A· June 2024

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Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Barbara Testa

Stem Cell Res· April 2024

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Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.
Ilaria Frattale, Rachele Sarnataro, Martina Siracusano, Assia Riccioni, Cinzia Galasso, Giuseppina Conteduca

Front Neurol· February 2024

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Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
Martina Siracusano, Assia Riccioni, Ilaria Frattale, Lucrezia Arturi, Caterina Dante, Giuseppina Conteduca

Am J Med Genet A· July 2023

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Exome Analysis Reveals Novel Missense and Deletion Variants in the Gene as Causative of Joubert Syndrome.
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca

Genes (Basel)· March 2023

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Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa

Stem Cell Res· February 2023

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Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects.
Giuseppina Conteduca, Barbara Testa, Chiara Baldo, Alessia Arado, Michela Malacarne

Gene· January 2023

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Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri

Genes (Basel)· January 2023

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Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.
Giuseppina Conteduca, Davide Cangelosi, Simona Coco, Michela Malacarne, Chiara Baldo

Life (Basel)· July 2022

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CD20-Mimotope Peptides: A Model to Define the Molecular Basis of Epitope Spreading.
Elvira Favoino, Marcella Prete, Giacomo Catacchio, Giuseppina Conteduca, Federico Perosa

Int J Mol Sci· April 2019

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Beyond APECED: An update on the role of the autoimmune regulator gene (AIRE) in physiology and disease.
Giuseppina Conteduca, Francesco Indiveri, Gilberto Filaci, Simone Negrini

Autoimmun Rev· April 2018

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AIRE polymorphism, melanoma antigen-specific T cell immunity, and susceptibility to melanoma.
Giuseppina Conteduca, Daniela Fenoglio, Alessia Parodi, Florinda Battaglia, Francesca Kalli

Oncotarget· September 2016

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Azacytidine mitigates experimental sclerodermic chronic graft-versus-host disease.
Gilles Fransolet, Grégory Ehx, Joan Somja, Loïc Delens, Muriel Hannon, Giuseppina Conteduca

J Hematol Oncol· July 2016

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Residual tumor micro-foci and overwhelming regulatory T lymphocyte infiltration are the causes of bladder cancer recurrence.
Alessia Parodi, Paolo Traverso, Francesca Kalli, Giuseppina Conteduca, Samuele Tardito

Oncotarget· February 2016

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CD39 is highly involved in mediating the suppression activity of tumor-infiltrating CD8+ T regulatory lymphocytes.
Alessia Parodi, Florinda Battaglia, Francesca Kalli, Francesca Ferrera, Giuseppina Conteduca

Cancer Immunol Immunother· May 2013

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Comparative analysis of cancer vaccine settings for the selection of an effective protocol in mice.
Francesca Kalli, Rodolfo Machiorlatti, Florinda Battaglia, Alessia Parodi, Giuseppina Conteduca

J Transl Med· May 2013

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Indoleamine 2,3 dioxygenase gene polymorphisms correlate with CD8+ Treg impairment in systemic sclerosis.
Samuele Tardito, Simone Negrini, Giuseppina Conteduca, Francesca Ferrera, Alessia Parodi

Hum Immunol· February 2013

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Cyclophosphamide inhibits the generation and function of CD8(+) regulatory T cells.
Ilaria Traverso, Daniela Fenoglio, Simone Negrini, Alessia Parodi, Florinda Battaglia, Giuseppina Conteduca

Hum Immunol· March 2012

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Alteration of Th17 and Treg cell subpopulations co-exist in patients affected with systemic sclerosis.
Daniela Fenoglio, Florinda Battaglia, Alessia Parodi, Silvia Stringara, Simone Negrini, Giuseppina Conteduca

Clin Immunol· June 2011

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