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Article

Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.

The American journal of pathology - 1 Jan 2015

Bankhead Elizabeth J, Colasanto Mary P, Dyorich Kayla M, Jamrich Milan, Murtaugh L Charles, Fuhrmann Sabine

Abstract excerpt

Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is frequently...

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Source

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Identifiers

PMID: 25451153
DOI: 10.1016/j.ajpath.2014.09.002
PMCID: PMC4278246

Genes

PORCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.PMID 25451153Read ↗

Porcn is essential for growth and invagination of the mammalian optic cupSemantic proximity Read ↗

Deletion of mouse <i>Porcn</i> blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndromeSemantic proximity Read ↗

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).Semantic proximity Read ↗

Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.Semantic proximity Read ↗

Loss of Porcupine impairs convergent extension during gastrulation in zebrafish.Semantic proximity Read ↗

PORCN gene mutations and the protean nature of focal dermal hypoplasia.Semantic proximity Read ↗

Optic cup and facial patterning defects in ocular ectoderm beta-catenin gain-of-function mice.Semantic proximity Read ↗

Importance of PORCN and Wnt signaling pathways in embryogenesis.Semantic proximity Read ↗

Porcn-dependent Wnt signaling is not required prior to mouse gastrulationSemantic proximity Read ↗

Porcupine-dependent Wnt activity within the uterine epithelium is essential for fertility.Semantic proximity Read ↗

Identification of genes required for eye development by high-throughput screening of mouse knockoutsSemantic proximity Read ↗

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.Semantic proximity Read ↗

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