Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID - Test2 - elhamkhani - TriplyDB

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome A Short Review on the Current Understanding of Autism Spectrum Disorders Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature Characterizing autism spectrum disorders by key biochemical pathways.The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.The adaptor protein DCAF7 mediates the interaction of the adenovirus E1A oncoprotein with the protein kinases DYRK1A and HIPK2 The neuroanatomy of autism - a developmental perspective Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Bio-collections in autism research.Molecular subtyping and improved treatment of neurodevelopmental disease.Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.De novo genic mutations among a Chinese autism spectrum disorder cohort.Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders.Inhibition of DYRK1A and GSK3B induces human β-cell proliferation.Autism genetics - an overview.Genetic control of postnatal human brain growth.Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.DYRK1B mutations associated with metabolic syndrome impair the chaperone-dependent maturation of the kinase domain.Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.Inhibition of DYRK1A disrupts neural lineage specification in human pluripotent stem cells Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Toward a conceptual framework for early brain and behavior development in autism.Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development.Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.A Requirement for Mena, an Actin Regulator, in Local mRNA Translation in Developing Neurons.The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.Emerging Roles of DYRK Kinases in Embryogenesis and Hedgehog Pathway Control.Genomics of autism spectrum disorder: approach to therapy.Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

http://www.wikidata.org/entity/Q35991718

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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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2015年论文

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2015年论文

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2015年论文

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name

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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Molecular Psychiatry

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Disruptive CHD8 mutations define a subtype of autism early in development

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Structures of Down Syndrome Kinases, DYRKs, Reveal Mechanisms of Kinase Activation and Substrate Recognition

Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system

Synaptic, transcriptional and chromatin genes disrupted in autism

The contribution of de novo coding mutations to autism spectrum disorder

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region

DYRK1A and glycogen synthase kinase 3beta, a dual-kinase mechanism directing proteasomal degradation of CRY2 for circadian timekeeping

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