Article

Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies

2025-10-30

Abstract excerpt

<h4>ABSTRACT</h4> The conserved transcriptional co-activator YAP1 is a central regulator of organ development and tissue homeostasis, integrating mechanical and biochemical cues to control cell proliferation and survival. YAP1 variants underlie a spectrum of congenital disorders, including autosomal dominant coloboma that can occur alone or with syndromic features. Despite this clinical significance, the function...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b124266f-ca77-5b52-9ea6-860f23f4fc1a
DOI: 10.1101/2025.10.28.685193

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studiesDOI 10.1101/2025.10.28.685193Read

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.Semantic proximity Read

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.Semantic proximity Read

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.Semantic proximity Read

Variable Anterior Segment Dysgenesis And Cardiac Anomalies Caused By A Novel Truncating Variant Of FOXC1Semantic proximity Read

Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.Semantic proximity Read

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.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

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Semantic proximity Read

The regulatory landscape of optic fissure closure in the vertebrate eyeSemantic proximity Read

Analysis of BMP3 Variants In The Causality of Ocular ColobomaSemantic proximity Read

Identification of PITX3 mutations in individuals with various ocular developmental defects.Semantic proximity Read

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