Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia-Reference-Cited by-同舟云学术

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

Published:2021-12 Issue:6 Volume:297 Page:101381
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Sirp Alex^ORCID,Roots Kaisa^ORCID,Nurm Kaja,Tuvikene Jürgen^ORCID,Sepp Mari^ORCID,Timmusk Tõnis

Funder

Estonian Research Council

European Regional Development Fund

Pitt Hopkins Research Foundation

University of Pennsylvania The Orphan Disease Center

H2020

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference68 articles.

1. The schizophrenia risk allele C of the TCF4 rs9960767 polymorphism disrupts sensorimotor gating in schizophrenia spectrum and healthy volunteers;Quednow;J. Neurosci.,2011

2. 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;Amiel;Am. J. Hum. Genet.,2007

3. Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum. Mol. Genet.,2007

4. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome);Zweier;Am. J. Hum. Genet.,2007

5. Pitt–Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects;Sepp;Hum. Mol. Genet.,2012

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1. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease;PLOS Genetics;2024-05-07

2. Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study;Orphanet Journal of Rare Diseases;2024-02-08

3. Regulation of phosphosignaling pathways involved in transcription of cell cycle target genes by TRH receptor activation in GH1 cells;Biomedicine & Pharmacotherapy;2023-12

4. Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders;Cells;2023-05-21

5. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease;2023-03-29

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