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

frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma.

Disease models & mechanisms - 1 Jun 2025

Monfries Clinton, Carter Stephen, Ataliotis Paris, Bseisu Aya, Shaikh Mahum, Hernández-Bejarano Maria, Fourteia Mohammed, Maftei Mara Ioana, Young Rodrigo M, Wilson Stephen W, Gestri Gaia, Cavodeassi Florencia

Abstract excerpt

Microphthalmia and coloboma are structural malformations of the eyes that arise from defective morphogenesis and are among the most severe defects associated with paediatric blindness. Frizzled class receptor 5 (FZD5) is a Wnt receptor expressed in the developing eye, and individuals with variants in FZD5 exhibit microphthalmia/coloboma, supporting a role for this receptor in human eye formation. Here, we show...

Read the complete abstract on PubMed

Topics

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

Share to Microphthalmos
Share to Coloboma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Embryo, Nonmammalian

Share to Frizzled Receptors

Share to Morphogenesis

Share to Zebrafish

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 40401611
DOI: 10.1242/dmm.052284
PMCID: PMC12182866

Genes

FZD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma.PMID 40401611Read ↗

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.Semantic proximity Read ↗

Mutation of frizzled8a delays neural retinal cell differentiation and results in microphthalmia in zebrafish.Semantic proximity Read ↗

Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma.Semantic proximity Read ↗

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.Semantic proximity Read ↗

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.Semantic proximity Read ↗

Conserved genetic pathways associated with microphthalmia, anophthalmia, and colobomaSemantic proximity Read ↗

The Molecular Basis of Human Anophthalmia and MicrophthalmiaSemantic proximity Read ↗

Zfp503/Nlz2 is Required for RPE Differentiation and Optic Fissure ClosureSemantic proximity Read ↗

Homozygous null mutation in ODZ3 causes microphthalmia in humans.Semantic proximity Read ↗

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.Semantic proximity Read ↗

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.Semantic proximity Read ↗

Ocular coloboma: a reassessment in the age of molecular neuroscienceSemantic proximity Read ↗

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