(Q39372163)

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

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Mari Sepp

1

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author name string

Priit Pruunsild

2

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

Tõnis Timmusk

3

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

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publication date

28 March 2012

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Europe PubMed Central

PubMed publication ID

11 September 2017

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

11 September 2017

21

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Europe PubMed Central

PubMed publication ID

11 September 2017

13

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

2873-2888

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

Pitt-Hopkins syndrome in two patients and further definition of the phenotype

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

TCF4 deletions in Pitt-Hopkins Syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Genetic determinants of autism in individuals with deletions of 18q.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

E2-2 protein and Fuchs's corneal dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Common variants in major histocompatibility complex region and TCF4 gene are significantly associated with schizophrenia in Han Chinese

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Novel schizophrenia risk gene TCF4 influences verbal learning and memory functioning in schizophrenia patients.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Cognitive and sensorimotor gating impairments in transgenic mice overexpressing the schizophrenia susceptibility gene Tcf4 in the brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

B lineage--specific interactions of an immunoglobulin enhancer with cellular factors in vivo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Expression of basic-helix-loop-helix transcription factor ME2 during brain development and in the regions of neuronal plasticity in the adult brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

E protein dosage influences brain development more than family member identity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Crystal structure of transcription factor E47: E-box recognition by a basic region helix-loop-helix dimer

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Crystal structure of E47-NeuroD1/beta2 bHLH domain-DNA complex: heterodimer selectivity and DNA recognition

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

A natural classification of the basic helix-loop-helix class of transcription factors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

NeuroD2 is necessary for development and survival of central nervous system neurons.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

NeuroD1/E47 regulates the E-box element of a novel zinc finger transcription factor, IA-1, in developing nervous system

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Using a structural and logics systems approach to infer bHLH-DNA binding specificity determinants

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

A BMAL1 mutant with arginine 91 substituted with alanine acts as a dominant negative inhibitor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Role of DNA sequence in the binding specificity of synthetic basic-helix-loop-helix domains

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

A helix propensity scale based on experimental studies of peptides and proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Analysis of sequence signature defining functional specificity and structural stability in helix-loop-helix proteins.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Identification of a highly conserved module in E proteins required for in vivo helix-loop-helix dimerization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Tissue-specific RNA splicing generates an ankyrin-like domain that affects the dimerization and DNA-binding properties of a bHLH protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Phosphorylation of E47 as a potential determinant of B-cell-specific activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

E47 phosphorylation by p38 MAPK promotes MyoD/E47 association and muscle-specific gene transcription

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Modeller: generation and refinement of homology-based protein structure models

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

QMEAN server for protein model quality estimation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Stability, chromatin association and functional activity of mammalian pre-replication complex proteins during the cell cycle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Insertion of EGFP into the replicase gene of Semliki Forest virus results in a novel, genetically stable marker virus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

An activation function in Pit-1 required selectively for synergistic transcription

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Association ofTCF4Gene Polymorphisms with Fuchs' Corneal Dystrophy in the Chinese

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Acetazolamide for severe apnea in Pitt-Hopkins syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS112

21 January 2018

Identifiers

10.1093/HMG/DDS112

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

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