Back to search

Article

Studies of mice with a large deletion of the ARPKD-associated <i>Pkhd1</i> locus likely explain its GWAS association with glaucoma in humans

2026-02-17

Abstract excerpt

<h4>ABSTRACT</h4> PKHD1 , the gene primarily mutated in human autosomal recessive polycystic kidney disease, is one of the top 20 genes associated with primary open angle glaucoma (POAG) and associated endophenotypes in Genome-Wide Association Studies. Here, we show that Pkhd1 del3-67/del3-67 mutant mice develop congenital glaucoma due to anterior segment dysgenesis. Using a combination of genetic, epigenetic,...

Topics

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

Identifiers and source

Literature Corpus work
1338f00c-71ab-52c3-b4ee-7fd1c66e45e1
DOI
10.64898/2026.02.15.706040
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Studies of mice with a large deletion of the ARPKD-associated <i>Pkhd1</i> locus likely explain its GWAS association with glaucoma in humansDOI 10.64898/2026.02.15.706040
Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.Semantic proximity
Transcriptome analysis of the zebrafish <i>atoh7−/−</i> mutant, <i>lakritz</i> , highlights Atoh7-dependent genetic networks with potential implications for human eye diseasesSemantic proximity
Advances in glaucoma genetics.Semantic proximity
Retinal ganglion cell-specific genetic regulation in primary open angle glaucomaSemantic proximity
<i>Ankhd1</i> enhances polycystic kidney disease development via promoting proliferation and fibrosisSemantic proximity
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.Semantic proximity
Retinal ganglion cell-specific genetic regulation in primary open-angle glaucomaSemantic proximity
An Integrated muti-omics cell atlas of the human trabecular meshwork and ciliary bodySemantic proximity
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucomaSemantic proximity
Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic <i>CPAMD8</i> variantsSemantic proximity
A large deletion spanning multiple enhancers near <i>PITX2</i> increases primary open-angle glaucoma riskSemantic proximity
FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.Semantic proximity
Select a neighboring publication to make it the new centre.