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

Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia.

Oral diseases - 1 Jul 2023

Sun Ruiqing, Li Shuangying, Xia Bin, Zhu Junxia

Abstract excerpt

OBJECTIVES: To investigate the pathogenic gene of a patient with nonsyndromic oligodontia, and analyze its possible pathogenic mechanism. SUBJECTS AND METHODS: The variant was detected by whole exome sequencing (WES) and Sanger sequencing in a family with oligodontia. Bioinformatic and structural analyses were used to analyze variant. Functional studies including western blotting and immunofluorescent analyses...

Read the complete abstract on PubMed

Topics

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

Share to Anodontia
Share to East Asian People
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to PAX9 Transcription Factor

Share to Pedigree

Share to Proteins

Source

Identifiers

PMID: 35596231
DOI: 10.1111/odi.14259

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia.PMID 35596231Read ↗

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 ↗

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

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

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

Novel MSX1 variants identified in families with nonsyndromic oligodontiaSemantic proximity Read ↗

Mutation of PAX9 is associated with 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 ↗

Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.Semantic proximity Read ↗

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

[Analysis of clinical features and mutation associated with oligodontia].Semantic proximity Read ↗

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontiaSemantic proximity Read ↗

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