A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
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A Short Review on the Current Understanding of Autism Spectrum DisordersMutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism EtiologyRole of nucleosome remodeling in neurodevelopmental and intellectual disability disordersThe promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disordersAutism-Associated Chromatin Regulator Brg1/SmarcA4 Is Required for Synapse Development and Myocyte Enhancer Factor 2-Mediated Synapse Remodeling.Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Synaptic, transcriptional and chromatin genes disrupted in autismRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.VariantDB: a flexible annotation and filtering portal for next generation sequencing data.The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated childrenPrioritization of neurodevelopmental disease genes by discovery of new mutations.Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug DiscoveryRecurrent de novo mutations implicate novel genes underlying simplex autism riskSWI/SNF chromatin remodeling regulates alcohol response behaviors in Caenorhabditis elegans and is associated with alcohol dependence in humansCamk2a-Cre-mediated conditional deletion of chromatin remodeler Brg1 causes perinatal hydrocephalus.Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies.Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDGenetics and genomics of autism spectrum disorder: embracing complexity.Molecular subtyping and improved treatment of neurodevelopmental disease.Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo databaseDisruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.Genome-wide characteristics of de novo mutations in autismA systematic variant annotation approach for ranking genes associated with autism spectrum disorders.De novo genic mutations among a Chinese autism spectrum disorder cohort.A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP.Genetic studies in intellectual disability and related disorders.ADNP: in search for molecular mechanisms and innovative therapeutic strategies for frontotemporal degeneration.Genetic Approaches to Understanding Psychiatric Disease.ADNP/NAP dramatically increase microtubule end-binding protein-Tau interaction: a novel avenue for protection against tauopathy.Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease.A Consensus Network of Gene Regulatory Factors in the Human Frontal Lobe.ADNP/ADNP2 expression in oligodendrocytes: implication for myelin-related neurodevelopment.Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdbAlterations in Activity-Dependent Neuroprotective Protein in Sporadic and Experimental Parkinson's Disease.
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P2860
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
description
2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
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2014年论文
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name
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@ast
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@en
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@nl
type
label
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@ast
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@en
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@nl
prefLabel
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@ast
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@en
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@nl
P2093
P2860
P50
P3181
P356
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P1476
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
@en
P2093
Anneke T Vulto-van Silfhout
Bert B A de Vries
Bradley P Coe
Carlo L Marcelis
Göran Annerén
Helena Malmgren
Helger G Yntema
Janneke H M Schuurs-Hoeijmakers
Jenneke van den Ende
Kali T Witherspoon
P2860
P2888
P3181
P356
10.1038/NG.2899
P407
P50
P577
2014-04-01T00:00:00Z
P5875
P6179
1009348024