about
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BPTwo knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stabilitySynaptic, transcriptional and chromatin genes disrupted in autismThe GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autismIntegrated model of de novo and inherited genetic variants yields greater power to identify risk genes.Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.Genetics and genomics of autism spectrum disorder: embracing complexity.Recent advances in the genetics of autism spectrum disorder.Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Acetylation of RTN-1C regulates the induction of ER stress by the inhibition of HDAC activity in neuroectodermal tumors.MD and Docking Studies Reveal That the Functional Switch of CYFIP1 is Mediated by a Butterfly-like Motion.A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
P50
Q24314573-515A59D3-7E2A-4317-AF7C-B52A1749F762Q27301001-CDD70340-D297-4A44-97C1-D39E397F6A2AQ28116039-C9F22799-5379-444B-A0A8-B704311442D0Q28250800-57C01B8E-CFF5-4947-952F-E23F48FE2635Q30385019-61E8505F-57BE-4AAF-8803-63B60CBA0456Q30671413-50914B64-2F69-4F1B-A3B0-87B4B05B3982Q34682335-B68BEECB-8FB3-4233-99B3-5F6E6781C93DQ34961828-179782CC-ECE0-42B3-A8D1-C21C651764A0Q35153436-DDC11CD6-D91C-46C5-A18A-B32ED9B5009AQ36363394-33A8FB36-C1B7-4E69-8047-3D4A44226B9EQ38462559-7E9DF6C1-D013-4486-B894-5B7CF78EC54CQ38583174-24F35570-C390-4159-8F51-9EBF66CE4D9CQ39814321-CE0F9F9F-D151-4DD0-B64B-A51802132159Q40314007-6826FF7A-1136-416D-98D3-6AC2B7429093Q48069489-B6122FD3-F021-470F-8EB7-6DBDF328ABF6Q48110353-FA56528D-AD9B-41A1-87B6-B3D59107F23BQ55049140-48CA0200-F4A2-4231-B339-DF019DDF5B87
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Silvia De Rubeis
@ast
Silvia De Rubeis
@en
Silvia De Rubeis
@es
Silvia De Rubeis
@sl
type
label
Silvia De Rubeis
@ast
Silvia De Rubeis
@en
Silvia De Rubeis
@es
Silvia De Rubeis
@sl
prefLabel
Silvia De Rubeis
@ast
Silvia De Rubeis
@en
Silvia De Rubeis
@es
Silvia De Rubeis
@sl
P106
P1153
16240868200
P21
P31
P496
0000-0001-9383-6883