Refining the phenotype associated with MEF2C haploinsufficiency.
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The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders.Neurexin and neuroligin mediate retrograde synaptic inhibition in C. elegans.A role for dendritic mGluR5-mediated local translation of Arc/Arg3.1 in MEF2-dependent synapse elimination8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.Autism spectrum disorder and epilepsy: Disorders with a shared biology.MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case ReportCRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment.MHCI requires MEF2 transcription factors to negatively regulate synapse density during development and in disease.MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c.Deregulation of polycomb repressor complex 1 modifier AUTS2 in T-cell leukemia.A Consensus Network of Gene Regulatory Factors in the Human Frontal Lobe.Transcribing the connectome: roles for transcription factors and chromatin regulators in activity-dependent synapse development.Synaptically localized transcriptional regulators in memory formation.Postnatal Loss of Mef2c Results in Dissociation of Effects on Synapse Number and Learning and Memory.The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism.Retrograde Synaptic Inhibition Is Mediated by α-Neurexin Binding to the α2δ Subunits of N-Type Calcium Channels.A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.Association and Promoter Analysis of AVPR1A in Finnish Autism Families.Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.Sociability and synapse subtype-specific defects in mice lacking SRPX2, a language-associated gene.5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2CSynaptic Disorders
P2860
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P2860
Refining the phenotype associated with MEF2C haploinsufficiency.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
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name
Refining the phenotype associated with MEF2C haploinsufficiency.
@en
Refining the phenotype associated with MEF2C haploinsufficiency.
@nl
type
label
Refining the phenotype associated with MEF2C haploinsufficiency.
@en
Refining the phenotype associated with MEF2C haploinsufficiency.
@nl
prefLabel
Refining the phenotype associated with MEF2C haploinsufficiency.
@en
Refining the phenotype associated with MEF2C haploinsufficiency.
@nl
P2093
P50
P1433
P1476
Refining the phenotype associated with MEF2C haploinsufficiency
@en
P2093
B Dalla Bernardina
H Van Esch
S Nageshappa
P304
P356
10.1111/J.1399-0004.2010.01413.X
P577
2010-11-01T00:00:00Z