De novo TBR1 mutations in sporadic autism disrupt protein functions.
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A Short Review on the Current Understanding of Autism Spectrum DisordersSwitching modes in corticogenesis: mechanisms of neuronal subtype transitions and integration in the cerebral cortexBrain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disordersIdentification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderFunctional characterization of rare FOXP2 variants in neurodevelopmental disorder.The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiersPossible functional links among brain- and skull-related genes selected in modern humansApproaching motor and language deficits in autism from below: a biolinguistic perspectivePaternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generationRobust classification of protein variation using structural modelling and large-scale data integration.Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.TBR1 regulates autism risk genes in the developing neocortexBCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.Insights into the genetic foundations of human communication.Recent advances in the genetics of autism spectrum disorder.Regulation of neuronal migration, an emerging topic in autism spectrum disorders.Genetic Approaches to Understanding Psychiatric Disease.Autism genetics - an overview.Evolution of language: Lessons from the genomeHaploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer.The E2A splice variant E47 regulates the differentiation of projection neurons via p57(KIP2) during cortical development.Loss of Cannabinoid CB 1 Receptors Induces Cortical Migration Malformations and Increases Seizure Susceptibility.Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.Mapping of Human FOXP2 Enhancers Reveals Complex Regulation.Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.The untold stories of the speech gene, the FOXP2 cancer gene.CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageFunctional characterization of TBR1 variants in neurodevelopmental disorder
P2860
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P2860
De novo TBR1 mutations in sporadic autism disrupt protein functions.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
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
@zh-tw
2014年论文
@wuu
name
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@ast
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@en
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@nl
type
label
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@ast
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@en
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@nl
prefLabel
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@ast
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@en
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@nl
P2093
P2860
P50
P921
P356
P1476
De novo TBR1 mutations in sporadic autism disrupt protein functions.
@en
P2093
Danai Dimitropoulou
Evan E Eichler
Jennifer Gerdts
Raphael A Bernier
Sara B Estruch
P2860
P2888
P356
10.1038/NCOMMS5954
P407
P577
2014-09-18T00:00:00Z
P5875
P6179
1009607980