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Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion intervalThe 3' untranslated region of human Cyclin-Dependent Kinase 5 Regulatory subunit 1 contains regulatory elements affecting transcript stabilityCentaurin-α₂ interacts with β-tubulin and stabilizes microtubuleshnRNPA2/B1 and nELAV proteins bind to a specific U-rich element in CDK5R1 3'-UTR and oppositely regulate its expression.MicroRNA-23b mediates urokinase and c-met downmodulation and a decreased migration of human hepatocellular carcinoma cells.Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.The miR-15/107 Family of microRNA Genes Regulates CDK5R1/p35 with Implications for Alzheimer's Disease Pathogenesis.The Long Non-Coding RNAs in Neurodegenerative Diseases: Novel Mechanisms of Pathogenesis.Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndromeUncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 geneTandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 regionIdentification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibersCharacterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams–Beuren syndrome region in chromosomal rearrangementsNoonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutationsMultiple Layers of CDK5R1 Regulation in Alzheimer's Disease Implicate Long Non-Coding RNAsEmerging Role of Genetic Alterations Affecting Exosome Biology in Neurodegenerative DiseasesPsychiatric Disorders and lncRNAs: A Synaptic Match
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Marco Venturin
@ast
Marco Venturin
@en
Marco Venturin
@es
Marco Venturin
@nl
Marco Venturin
@sl
type
label
Marco Venturin
@ast
Marco Venturin
@en
Marco Venturin
@es
Marco Venturin
@nl
Marco Venturin
@sl
prefLabel
Marco Venturin
@ast
Marco Venturin
@en
Marco Venturin
@es
Marco Venturin
@nl
Marco Venturin
@sl
P106
P1153
6506773141
P21
P31
P496
0000-0002-5871-9689