Zobrazeno 1 - 10 of 23 pro vyhledávání: '"Paolo Grazioli"'
2
Akademický článek
Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
Autor: Elisabetta Di Fede, Paolo Grazioli, Antonella Lettieri, Chiara Parodi, Silvia Castiglioni, Esi Taci, Elisa Adele Colombo, Silvia Ancona, Alberto Priori, Cristina Gervasini, Valentina Massa
Publikováno v: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Chromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to this group of congenital disorders, sharing some m
Externí odkaz: https://doaj.org/article/3af2ab1890a64ab4a7716bf6a4b9b466
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3
Akademický článek
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
Autor: Paolo Grazioli, Chiara Parodi, Milena Mariani, Daniele Bottai, Elisabetta Di Fede, Aida Zulueta, Laura Avagliano, Anna Cereda, Romano Tenconi, Jolanta Wierzba, Raffaella Adami, Maria Iascone, Paola Francesca Ajmone, Thomas Vaccari, Cristina Gervasini, Angelo Selicorni, Valentina Massa
Publikováno v: Cell Death Discovery, Vol 7, Iss 1, Pp 1-11 (2021)
Abstract Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder affecting a multitude of organs including the central nervous system, inducing a variable neurodevelopmental delay. CdLS malformations derive from the deregulation of develop
Externí odkaz: https://doaj.org/article/d5e330991d9146b998a2e7f05f9332a2
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4
Akademický článek
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
Autor: Chiara Parodi, Elisabetta Di Fede, Angela Peron, Ilaria Viganò, Paolo Grazioli, Silvia Castiglioni, Richard H. Finnell, Cristina Gervasini, Aglaia Vignoli, Valentina Massa
Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Prenatal exposure to valproate (VPA), an antiepileptic drug, has been associated with fetal valproate spectrum disorders (FVSD), a clinical condition including congenital malformations, developmental delay, intellectual disability as well as autism s
Externí odkaz: https://doaj.org/article/423ff3c34b9142c2bb09adabb7f90ee0
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5
Akademický článek
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
Autor: Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa
Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities in
Externí odkaz: https://doaj.org/article/ad752bc918e94f2690e8834b68337f06
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9
Dynamic acetylation profile during mammalian neurulation
Autor: Laura Avagliano, Sandra C. P. De Castro, Serena Cuttin, Gaetano Bulfamante, Valentina Massa, Andrew J. Copp, Patrizia Vergani, Patrizia Doi, Dawn Savery, Chiara Parodi, Nicholas D. E. Greene, Paolo Grazioli
Publikováno v: Birth Defects Research
Background Neural tube defects (NTDs) result from failure of neural tube closure during embryogenesis. These severe birth defects of the central nervous system include anencephaly and spina bifida, and affect 0.5–2 per 1,000 pregnancies worldwide i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78af568ab12d29b27d14468fd9d04da
https://doi.org/10.1002/bdr2.1618
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10
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein–Taybi Syndrome
Autor: Elisabetta Di Fede, Emerenziana Ottaviano, Paolo Grazioli, Camilla Ceccarani, Antonio Galeone, Chiara Parodi, Elisa Adele Colombo, Giulia Bassanini, Grazia Fazio, Marco Severgnini, Donatella Milani, Elvira Verduci, Thomas Vaccari, Valentina Massa, Elisa Borghi, Cristina Gervasini
Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 7
International Journal of Molecular Sciences, Vol 22, Iss 3621, p 3621 (2021)
The short-chain fatty acid butyrate, produced by the gut microbiota, acts as a potent histone deacetylase (HDAC) inhibitor. We assessed possible ameliorative effects of butyrate, relative to other HDAC inhibitors, in in vitro and in vivo models of Ru
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d130d77ae21ace2555f52ddda2353525
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