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Article

Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.

Journal of neurochemistry - 1 May 2022

Heng Julian I-T, Viti Leon, Pugh Kye, Marshall Owen J, Agostino Mark

Abstract excerpt

Mutations to genes that encode DNA-binding transcription factors (TFs) underlie a broad spectrum of human neurodevelopmental disorders. Here, we highlight the pathological mechanisms arising from mutations to TF genes that influence the development of mammalian cerebral cortex neurons. Drawing on recent findings for TF genes including ZBTB18, we discuss how functional missense mutations to such genes confer...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35083747
DOI: 10.1111/jnc.15572
PMCID: PMC9302683

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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