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

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.

Molecular systems biology - 1 Jul 2024

McDonnell Alexander F, Plech Marcin, Livesey Benjamin J, Gerasimavicius Lukas, Owen Liusaidh J, Hall Hildegard Nikki, FitzPatrick David R, Marsh Joseph A, Kudla Grzegorz

Abstract excerpt

Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To understand how changes of PAX6:DNA binding cause these phenotypes, we combined saturation mutagenesis of the paired domain of PAX6 with a yeast one-hybrid (Y1H) assay in which expression of a PAX6-GAL4 fusion gene drives antibiotic resistance. We...

Read the complete abstract on PubMed

Topics

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

Share to Binding Sites
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to PAX6 Transcription Factor

Share to Protein Binding

Share to Saccharomyces cerevisiae

Share to Transcription Factors

Share to Two-Hybrid System Techniques

Source

Open in PubMed Open full text

Identifiers

PMID: 38849565
DOI: 10.1038/s44320-024-00043-8
PMCID: PMC11219921

Genes

PAX6

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.PMID 38849565Read ↗

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variantsSemantic proximity Read ↗

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.Semantic proximity Read ↗

Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.Semantic proximity Read ↗

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.Semantic proximity Read ↗

Using computational approaches to enhance the interpretation of missense variants in the<i>PAX6</i>geneSemantic proximity Read ↗

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.Semantic proximity Read ↗

Functional analysis of paired box missense mutations in the PAX6 gene.Semantic proximity Read ↗

Saturation mutagenesis-reinforced functional assays for disease-related genes.Semantic proximity Read ↗

Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)Semantic proximity Read ↗

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.Semantic proximity Read ↗

Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.Semantic proximity Read ↗

Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations.Semantic proximity Read ↗

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