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

Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.

Nucleic acids research - 1 Jan 2004

Chauhan Bharesh K, Yang Ying, Cveklová Kveta, Cvekl Ales

Abstract excerpt

Pax6 is essential for development of the eye, olfactory system, brain and pancreas. Haploinsufficiency of Pax6 causes abnormal eye development. Two forms of Pax6 protein, PAX6 and PAX6(5a), differ in a 14 amino acid insertion encoded by an alternatively spliced exon 5a in the N-terminal DNA-bindi...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Crystallin B Chain
Share to Alternative Splicing
Share to Crystallins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to gamma-Crystallins

Share to Paired Box Transcription Factors

Share to PAX5 Transcription Factor

Share to PAX6 Transcription Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 15020706
DOI: 10.1093/nar/gkh334
PMCID: PMC390332

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15020706-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.PMID 15020706Read ↗

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

Regulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens.Semantic proximity Read ↗

Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain.Semantic proximity Read ↗

Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype.Semantic proximity Read ↗

PAX6, paired domain influences sequence recognition by the homeodomain.Semantic proximity Read ↗

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.Semantic proximity Read ↗

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

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.Semantic proximity Read ↗

Predictions on impact of missense mutations on structure function relationship of PAX6 and its alternatively spliced isoform PAX6(5a).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 ↗

A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye.Semantic proximity Read ↗

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.Semantic proximity Read ↗

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