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

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Nature communications - 23 Jul 2026

Ishimoto Yu, Menezes Luis F, Nakaya Naoki, Barbosa-Sabanero Karla, Horie Yukihiro, Yoshida Teruhiko, Reece Jeff M, Zhou Fang, Tomarev Stanislav, Kerosuo Laura, Germino Gregory G

Abstract excerpt

Genome-wide association studies report single nucleotide polymorphisms (SNPs) in the PKHD1-TFAP2B genomic interval are associated with primary open-angle glaucoma (POAG) but do not distinguish the causal gene. While neural crest cell (NCC)-specific Tfap2b inactivation causes anterior segment dysgenesis (ASD) and congenital glaucoma (CG), PKHD1 mutations cause autosomal recessive polycystic kidney disease. We now...

Read the complete abstract on PubMed

Topics

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

Share to Eye Abnormalities
Share to Anterior Eye Segment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Mice, Inbred C57BL

Share to Mice, Knockout

Share to Polymorphism, Single Nucleotide

Share to Transcription Factor AP-2

Source

Open in PubMed Open full text

Identifiers

PMID: 42618573
DOI: 10.1038/s41467-026-75698-y
PMCID: PMC13490598

Genes

PKHD1
TFAP2B

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

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.PMID 42618573Read ↗

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

Retinal ganglion cell-specific genetic regulation in primary open-angle glaucomaSemantic proximity Read ↗

Retinal ganglion cell-specific genetic regulation in primary open angle glaucomaSemantic proximity Read ↗

FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.Semantic proximity Read ↗

An Integrated muti-omics cell atlas of the human trabecular meshwork and ciliary bodySemantic proximity Read ↗

<i>KAT6A</i> mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid modelSemantic proximity Read ↗

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1Semantic proximity Read ↗

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.Semantic proximity Read ↗

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.Semantic proximity Read ↗

The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.Semantic proximity Read ↗

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.Semantic proximity Read ↗

Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma.Semantic proximity Read ↗

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