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 study of novel PAX9 variants: The paired domain and non-syndromic oligodontia.

Oral diseases - 1 Sept 2021

Sun Kai, Yu Miao, Yeh Iting, Zhang Liutao, Liu Haochen, Cai Tao, Feng Hailan, Liu Yang, Han Dong

Abstract excerpt

OBJECTIVES: To investigate pathogenic variants of the paired box 9 (PAX9) gene in patients with non-syndromic oligodontia, and the functional impact of these variants. SUBJECTS AND METHODS: Whole exome sequencing and Sanger sequencing were utilized to detect gene variants in a cohort of 80 patients diagnosed with non-syndromic oligodontia. Bioinformatic and conformational analyses, fluorescence microscopy and...

Read the complete abstract on PubMed

Topics

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

Share to Anodontia
Share to Bone and Dental Protein Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to dental development and anomalies

Share to Exome Sequencing

Share to Mutation

Share to Mutation, Missense

Share to PAX9 Transcription Factor

Share to Pedigree

Source

Identifiers

PMID: 33078491
DOI: 10.1111/odi.13684

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional study of novel PAX9 variants: The paired domain and non-syndromic oligodontia.PMID 33078491Read ↗

Novel missense mutations in PAX9 causing oligodontia.Semantic proximity Read ↗

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants.Semantic proximity Read ↗

Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia.Semantic proximity Read ↗

A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.Semantic proximity Read ↗

An inclusive study of deleterious missense PAX9 variants using user-friendly tools reveals structural, functional alterations, as well as potential therapeutic targets.Semantic proximity Read ↗

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.Semantic proximity Read ↗

PAX9 gene mutations and tooth agenesis: A review.Semantic proximity Read ↗

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns.Semantic proximity Read ↗

The phenotype and genotype of PAX9 mutations causing tooth agenesis.Semantic proximity Read ↗

A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.Semantic proximity Read ↗

[Functional analysis of novel mutations in PAX9 associated with familial oligodontia].Semantic proximity Read ↗

PAX9 mutations and genetic synergism in familial tooth agenesis.Semantic proximity Read ↗

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