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

Autor: Jürgen Tuvikene, Kaisa Roots, Tõnis Timmusk, Alex Sirp, Kaja Nurm, Mari Sepp

Publikováno v: The Journal of Biological Chemistry
Journal of Biological Chemistry
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PubMed Central

Transcription factor 4 (TCF4) is a basic helix-loop-helix transcription factor essential for neurocognitive development. The aberrations in TCF4 are associated with neurodevelopmental disorders including schizophrenia, intellectual disability, and Pi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::571fb9a500003d0acbefc612aacd700e
https://pubmed.ncbi.nlm.nih.gov/34748727

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

Autor: Kaja Nurm, Stephanie Cerceo Page, Mari Sepp, Hanna Vihma, Tõnis Timmusk, Brady J. Maher, Anu Hark, Priit Pruunsild, Kaisa Roots, Mari Urb

Publikováno v: The Journal of Neuroscience

Transcription factor 4 (TCF4 also known as ITF2 or E2-2) is a basic helix-loop-helix (bHLH) protein associated with Pitt–Hopkins syndrome, intellectual disability, and schizophrenia (SCZ). Here, we show that TCF4-dependent transcription in cortical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9084dd6a650ff4145a70775cbd6cd2b5
https://pubmed.ncbi.nlm.nih.gov/29540544

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