Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
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CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaPitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical ChallengeConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersGenotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsNine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive errorThe role of genetics in the etiology of schizophreniaNeurodevelopment in schizophrenia: the role of the wnt pathways.Pitt-Hopkins Syndrome.Dissection of chromosome 18 blood pressure and salt-sensitivity quantitative trait loci in the spontaneously hypertensive ratFunctional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing.Genome-wide approaches to schizophrenia.A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsTransethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variantA common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiationSynaptic Wnt signaling-a contributor to major psychiatric disorders?The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.The second brain in autism spectrum disorder: could connexin 43 expressed in enteric glial cells play a role?Effects of cis-regulatory variation differ across regions of the adult human brain.Type I bHLH Proteins Daughterless and Tcf4 Restrict Neurite Branching and Synapse Formation by Repressing Neurexin in Postmitotic Neurons.The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.Association between perinatal methylation of the neuronal differentiation regulator HES1 and later childhood neurocognitive function and behaviour.Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.CpG methylation in exon 1 of transcription factor 4 increases with age in normal gastric mucosa and is associated with gene silencing in intestinal-type gastric cancers.Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityTcf4 Controls Neuronal Migration of the Cerebral Cortex through Regulation of Bmp7.Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.Impact of TCF4 on the genetics of schizophrenia.Development, cognition, and behaviour in Pitt-Hopkins syndrome.TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.Knockdown of the schizophrenia susceptibility gene TCF4 alters gene expression and proliferation of progenitor cells from the developing human neocortex.Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders.Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution.An emerging role for class I bHLH E2-2 proteins in EMT regulation and tumor progression.TCF4, schizophrenia, and Pitt-Hopkins Syndrome.
P2860
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P2860
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Severe mental retardation with ...... HLH transcription factor TCF4.
@en
Severe mental retardation with breathing abnormalities
@nl
type
label
Severe mental retardation with ...... HLH transcription factor TCF4.
@en
Severe mental retardation with breathing abnormalities
@nl
prefLabel
Severe mental retardation with ...... HLH transcription factor TCF4.
@en
Severe mental retardation with breathing abnormalities
@nl
P2093
P2860
P50
P356
P1476
Severe mental retardation with ...... HLH transcription factor TCF4.
@en
P2093
Antje Brockschmidt
Christina Landwehr
Hartmut Engels
Ruthild G Weber
Soojin Ryu
Stefanie Birnbaum
Wilhelm Frenck
P2860
P304
P356
10.1093/HMG/DDM099
P577
2007-05-03T00:00:00Z