CNR Institutional Research Information System

Padula, Agnese
 Distribuzione geografica
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Continente #
NA - Nord America 90
AS - Asia 29
EU - Europa 1
Totale 120
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Nazione #
US - Stati Uniti d'America 90
SG - Singapore 27
CN - Cina 2
IT - Italia 1
Totale 120
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Città #
Santa Clara 83
Singapore 23
Boardman 3
Guangzhou 2
Avellino 1
Totale 112
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Nome #
Evidences for an evolutionary conserved druggable pathway damaged in models for ARX polyalanine expansions linked to Refractory Epilepsy and Intellectual Disability. 10
A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays 10
Exploring transcriptional single-cell signatures in a mouse model of epilepsy caused by a polyalanine expansion mutation in Aristaless-related homeobox gene. 10
Increased dosage of the brain-disease gene ARX affects transcriptional activity and chromatin remodelling and may clear up Intellectual Disability (ID) found in a male patient with a Xp21.3 duplication 9
The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. 9
Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model" 9
A regulatory path associated with X-Linked Intellectual Disability and Epilepsy links the histone demethylase KDM5C to the Polyalanine expansions in the transcription factor ARX 8
Increased dosage of the bifunctional transcription factor ARX disturbs its tuneable activity and may cause neuronal defects 8
Strategies to correct the epigenetic path KDM5C-H3K4me3 damaged in XLID/Epilepsy diseases 8
Finding new connections in the transcriptional regulation of Lysine-specific demethylase 5C (KDM5C) a disease gene involved in syndromic and non-syndromic XLID. 8
Exploring the SINEUP properties as RNA therapeutic tools in ARX polyalanine models for West syndrome. 8
Histone methylation-demethylation defects in forms of Intellectual Disability and Refractory Epilepsy 8
Evolutionary conserved ARX-regulatory pathway in mammals and nematode to find a convergent druggable pathway damaged in neurodevelopmental disorders 8
Analysis of KDM5C transcription: identification of new disease routes damaged in XLID/Epilepsy diseases 7
Totale 120
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Categoria #
all - tutte 443
article - articoli 66
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 509
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20245 0 0 0 0 0 0 0 0 0 0 2 3
2024/2025115 0 1 28 6 66 14 0 0 0 0 0 0
Totale 120