Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia

The basic helix‐loop‐helix transcription factor TCF4 impacts brain architecture as well as neuronal morphology and differentiation

(2020) Melanie Schoof et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

CREB Family Transcription Factors Are Major Mediators of BDNF Transcriptional Autoregulation in Cortical Neurons

(2020) Eli-Eelika Esvald et al.   JOURNAL OF NEUROSCIENCE

Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome

(2020) Laura Tamberg et al.   Disease Models & Mechanisms

Region and Cell Type Distribution of TCF4 in the Postnatal Mouse Brain

(2020) Hyojin Kim et al.   Frontiers in Neuroanatomy

Modulation of cognition and neuronal plasticity in gain- and loss-of-function mouse models of the schizophrenia risk gene Tcf4

(2020) D. M. Badowska et al.   Translational Psychiatry

Helix–loop–helix proteins and the advent of cellular diversity: 30 years of discovery

(2019) Cornelis Murre   GENES & DEVELOPMENT

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

(2019) Marcella Zollino et al.   CLINICAL GENETICS

TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma

(2019) Malte Hellwig et al.   ACTA NEUROPATHOLOGICA

Deconvolution of transcriptional networks identifies TCF4 as a master regulator in schizophrenia

(2019) Abolfazl Doostparast Torshizi et al.   Science Advances

The subcellular localization of bHLH transcription factor TCF4 is mediated by multiple nuclear localization and nuclear export signals

(2019) Beata Greb-Markiewicz et al.   Scientific Reports

Monogenic disorders that mimic the phenotype of Rett syndrome

(2018) Siddharth Srivastava et al.   NEUROGENETICS

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons

(2018) Matthias Jung et al.   Molecular Autism

The integrated landscape of causal genes and pathways in schizophrenia

(2018) Changguo Ma et al.   Translational Psychiatry

The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A

(2017) Mari Sepp et al.   JOURNAL OF NEUROSCIENCE

Common pathophysiology in multiple mouse models of Pitt-Hopkins syndrome

(2017) Courtney Thaxton et al.   JOURNAL OF NEUROSCIENCE

The schizophrenia- and autism-associated gene, transcription factor 4 regulates the columnar distribution of layer 2/3 prefrontal pyramidal neurons in an activity-dependent manner

(2017) S C Page et al.   MOLECULAR PSYCHIATRY

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

(2017) Marc P Forrest et al.   SCHIZOPHRENIA BULLETIN

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

(2016) Mira Kharbanda et al.   European Journal of Medical Genetics

Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1

(2016) Matthew D. Rannals et al.   NEURON

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

(2016) Valerie Maduro et al.   Orphanet Journal of Rare Diseases

Tcf4 Regulates Synaptic Plasticity, DNA Methylation, and Memory Function

(2016) Andrew J. Kennedy et al.   Cell Reports

Investigation of the role ofTCF4rare sequence variants in schizophrenia

(2015) F. Buket Basmanav et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless

(2015) L. Tamberg et al.   Biology Open

YASARA View—molecular graphics for all devices—from smartphones to workstations

(2014) Elmar Krieger et al.   BIOINFORMATICS

Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition

(2014) Marcel Kool et al.   CANCER CELL

Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective

(2014) Boris B. Quednow et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

E-proteins orchestrate the progression of neural stem cell differentiation in the postnatal forebrain

(2014) Bruno Fischer et al.   Neural Development

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders

(2014) Amit Lotan et al.   Frontiers in Neuroscience

A TAF4 coactivator function for E proteins that involves enhanced TFIID binding

(2013) W.-Y. Chen et al.   GENES & DEVELOPMENT

A survey of rare coding variants in candidate genes in schizophrenia by deep sequencing

(2013) X Hu et al.   MOLECULAR PSYCHIATRY

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

(2013) Marc P. Forrest et al.   PLoS One

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

(2012) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Parent-child exome sequencing identifiesade novotruncating mutation inTCF4in non-syndromic intellectual disability

(2012) F F Hamdan et al.   CLINICAL GENETICS

Pitt–Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects

(2012) Mari Sepp et al.   HUMAN MOLECULAR GENETICS

Functional analysis ofTCF4missense mutations that cause Pitt-Hopkins syndrome

(2012) Marc Forrest et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

TCF4 sequence variants and mRNA levels are associated with neurodevelopmental characteristics in psychotic disorders

(2012) K V Wirgenes et al.   Translational Psychiatry

A novel function of the proneural factor Ascl1 in progenitor proliferation identified by genome-wide characterization of its targets

(2011) D. S. Castro et al.   GENES & DEVELOPMENT

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

(2011) Stacy Steinberg et al.   HUMAN MOLECULAR GENETICS

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

(2011) Sandra Whalen et al.   HUMAN MUTATION

The Schizophrenia Risk Allele C of the TCF4 rs9960767 Polymorphism Disrupts Sensorimotor Gating in Schizophrenia Spectrum and Healthy Volunteers

(2011) B. B. Quednow et al.   JOURNAL OF NEUROSCIENCE

Genome-wide association study identifies five new schizophrenia loci

(2011)   NATURE GENETICS

Functional Diversity of Human Basic Helix-Loop-Helix Transcription Factor TCF4 Isoforms Generated by Alternative 5′ Exon Usage and Splicing

(2011) Mari Sepp et al.   PLoS One

Cognitive and Sensorimotor Gating Impairments in Transgenic Mice Overexpressing the Schizophrenia Susceptibility Gene Tcf4 in the Brain

(2010) Magdalena M. Brzózka et al.   BIOLOGICAL PSYCHIATRY

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

(2010) K Takano et al.   CLINICAL GENETICS

Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

(2009) Lo��c de Pontual et al.   HUMAN MUTATION

The class I bHLH factors E2-2A and E2-2B regulate EMT

(2009) V. R. Sobrado et al.   JOURNAL OF CELL SCIENCE

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

Common variants conferring risk of schizophrenia

(2009) Hreinn Stefansson et al.   NATURE

Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

(2008) Vera M. Kalscheuer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A conserved domain in the transcription factor ITF-2B attenuates its activity

(2008) A. Herbst et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The RNA polymerase II core promoter — the gateway to transcription

(2008) Tamar Juven-Gershon et al.   CURRENT OPINION IN CELL BIOLOGY