Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
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DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down SyndromeCase report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literatureMutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism EtiologyCharacterizing autism spectrum disorders by key biochemical pathways.Advancing the understanding of autism disease mechanisms through geneticsA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Efficient and rapid generation of large genomic variants in rats and mice using CRISMEREDistinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders.Genetic Approaches to Understanding Psychiatric Disease.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.Inhibition of DYRK1A disrupts neural lineage specification in human pluripotent stem cellsClinical phenotype of ASD-associated DYRK1A haploinsufficiency.Overexpression of the DYRK1A Gene (Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A) Induces Alterations of the Serotoninergic and Dopaminergic Processing in Murine Brain Tissues.Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development.Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome
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P2860
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
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2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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name
Ten new cases further delineat ...... caused by mutations in DYRK1A.
@ast
Ten new cases further delineat ...... caused by mutations in DYRK1A.
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type
label
Ten new cases further delineat ...... caused by mutations in DYRK1A.
@ast
Ten new cases further delineat ...... caused by mutations in DYRK1A.
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prefLabel
Ten new cases further delineat ...... caused by mutations in DYRK1A.
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Ten new cases further delineat ...... caused by mutations in DYRK1A.
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P2093
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P1476
Ten new cases further delineat ...... caused by mutations in DYRK1A.
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Arthur S Aylsworth
Bertrand Isidor
Christine Francannet
Claire Redin
Clarisse Baumann
Jean-Baptiste Rivière
Jean-Louis Mandel
Joseph G Gleeson
Julie R Jones
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P304
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10.1038/EJHG.2015.29
P577
2015-04-29T00:00:00Z