Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.

PloS one - 1 Jan 2013

Biechele Steffen, Adissu Hibret A, Cox Brian J, Rossant Janet

Abstract excerpt

In mouse and humans, the X-chromosomal Porcupine homolog (Porcn) gene is required for the acylation and secretion of all 19 Wnt ligands, thus representing a bottleneck in the secretion of Wnt ligands. In humans, mutations in PORCN cause the X-linked dominant syndrome Focal Dermal Hypoplasia (FDH, OMIM#305600). This disorder is characterized by ecto-mesodermal dysplasias and shows a highly variable phenotype,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyltransferases
Share to Bronchiectasis
Share to Ciliary Motility Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Embryo, Mammalian

Share to Otitis Media

Share to Rhinitis

Share to Zygote

Source

Open in PubMed Open full text

Identifiers

PMID: 24223895
DOI: 10.1371/journal.pone.0079139
PMCID: PMC3815152

Genes

PORCN

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.PMID 24223895Read ↗

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 ↗

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

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

Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.Semantic proximity Read ↗

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

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.Semantic proximity Read ↗

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.Semantic proximity Read ↗

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.Semantic proximity Read ↗

PORCN mutations in focal dermal hypoplasia: coping with lethality.Semantic proximity Read ↗

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.Semantic proximity Read ↗

Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.