about
Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24PALML, a novel paralemmin-related gene mapping on human chromosome 1p21PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family.Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome.Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation.A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals.Behavioral characterization of a mouse model overexpressing DSCR1/ RCAN1.Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.Oncolytic adenoviruses armed with thymidine kinase can be traced by PET imaging and show potent antitumoural effects by ganciclovir dosing.Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24.Increased NR2A expression and prolonged decay of NMDA-induced calcium transient in cerebellum of TgDyrk1A mice, a mouse model of Down syndrome.
P50
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P50
description
researcher ORCID ID = 0000-0003-1999-8483
@en
wetenschapper
@nl
name
Nuria Andreu
@ast
Nuria Andreu
@en
Nuria Andreu
@es
Nuria Andreu
@nl
type
label
Nuria Andreu
@ast
Nuria Andreu
@en
Nuria Andreu
@es
Nuria Andreu
@nl
prefLabel
Nuria Andreu
@ast
Nuria Andreu
@en
Nuria Andreu
@es
Nuria Andreu
@nl
P106
P21
P31
P496
0000-0003-1999-8483