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

Generation and characterization of a murine amelogenesis imperfecta model.

Archives of oral biology - 1 Jun 2026

Cho Eui-Sic, Hu Jan C-C, Kim Jung-Wook

Abstract excerpt

OBJECTIVE: Amelogenesis imperfecta (AI) refers to a group of rare yet complex genetic disorders that affect the quantity and/or quality of tooth enamel. Recently, in AI patients, we identified mutations that disrupt a conserved alternative splicing pattern of the AMELX gene, which encodes amelogenin, the most abundant enamel matrix protein. These mutations led to the retention of exon 4, which is normally skipped...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Amelogenesis Imperfecta
Share to Amelogenin

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dental Enamel

Share to Gene Knock-In Techniques

Share to Immunohistochemistry

Share to X-Ray Microtomography

Source

Identifiers

PMID: 41791263
DOI: 10.1016/j.archoralbio.2026.106563

Genes

AMELX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation and characterization of a murine amelogenesis imperfecta model.PMID 41791263Read ↗

Alteration of conserved alternative splicing in AMELX causes enamel defects.Semantic proximity Read ↗

A novel AMELX mutation causes hypoplastic amelogenesis imperfecta.Semantic proximity Read ↗

Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.Semantic proximity Read ↗

A Suite of Mouse Reagents for Studying AmelogenesisSemantic proximity Read ↗

Amelogenesis Imperfecta; Genes, Proteins, and PathwaysSemantic proximity Read ↗

Amelogenin-deficient mice display an amelogenesis imperfecta phenotype.Semantic proximity Read ↗

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.Semantic proximity Read ↗

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.Semantic proximity Read ↗

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disordersSemantic proximity Read ↗

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.Semantic proximity Read ↗

Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).Semantic proximity Read ↗

Amelogenesis imperfecta: an introduction.Semantic proximity Read ↗

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