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Article

Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.

American journal of human genetics - 7 Sept 2012

Zarnegar Brian J, Webster Dan E, Lopez-Pajares Vanessa, Vander Stoep Hunt Brook, Qu Kun, Yan Karen J, Berk David R, Sen George L, Khavari Paul A

Abstract excerpt

The basis for impaired differentiation in TP63 mutant ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is unknown. Human epidermis harboring AEC TP63 mutants recapitulated this impairment, along with downregulation of differentiation activators, including HOPX, GRHL3, KLF4, PRDM1, and ZNF750. Gene-set enrichment analysis indicated that disrupted expression of epidermal differentiation programs under...

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Identifiers

PMID: 22922031
DOI: 10.1016/j.ajhg.2012.07.007
PMCID: PMC3511987

Genes

KLF4
GRHL3
HOPX
PRDM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.PMID 22922031Read ↗

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