Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.

Background: Tooth agenesis (TA) is a congenital abnormality that may present as syndromic or nonsyndromic. Considering its complex genetic aetiology, the aim of this study was to uncover the pathogenic mutants in patients with nonsyndromic TA and analyse the characteristics of these mutants.

Methods: Exome sequencing was performed to detect pathogenic variants in 72 patients from 43 unrelated families with nonsyndromic TA.

The introduction of team-based learning into the clinical pharmacology section of the endodontics clinical course.

Team-based learning (TBL) has been widely applied and evaluated to produce better student outcomes. TBL has been introduced into the clinical pharmacology section of the endodontics clinical course at the School of Stomatology, Wuhan University since 2021. Here, the teaching experience in this course was summarized.

Mycn deficiency underlies the development of orofacial clefts in mice and humans.

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common subphenotype of non-syndromic orofacial clefts arising from genetic and/or environmental perturbations during embryonic development. We previously identified 2p24.2 as a risk locus associated with NSCL/P in the Chinese Han population, and MYCN is a candidate risk gene in this region.

Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome.

Background: Interferon Regulatory Factor 6 (IRF6) gene encodes a member of the IRF family of transcription factors. Mutations in IRF6 cause Van der Woude Syndrome (VWS), which is the most common malformation of syndromic orofacial clefts in humans.

Methods: Here, we performed sequencing studies of six families with VWS in the Chinese Han population.

Two novel mutations in MSX1 causing oligodontia.

Tooth agenesis is one of the most common developmental anomalies in humans and can affect dental occlusion and speech pronunciation. Research has identified an association between mutations in MSX1, PAX9, EDA, AXIN2, WNT10A, WNT10B and LRP6 and human tooth agenesis. Two unrelated individuals with non-syndromic tooth agenesis and their families were enrolled in this study.

Elevated TARP promotes proliferation and metastasis of salivary adenoid cystic carcinoma.

Objective: This study aims to analyze the expression of T-cell receptor γ chain alternate reading frame protein (TARP) in salivary adenoid cystic carcinoma (SACC) and its distant metastases and to investigate its influences on the development and progression of SACC.

Study Design: TARP expression was analyzed in 50 primary SACCs, 13 specimens of metastatic adenoid cystic carcinoma of salivary gland origin, and 20 noncancerous tissues around SACC via immunohistochemistry. Cell Counting Kit-8 tests, wound healing assay, and Transwell experiments were performed to evaluate the effects of lentivirus-mediated TARP overexpression on the proliferation, migration, and invasion of SACC cells.

Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.

Tooth agenesis is a congenital anomaly frequently seen in humans. Several genes have been associated with non-syndromic tooth agenesis, including msh homeobox 1 (MSX1), paired box 9 (PAX9), axis inhibition protein 2 (AXIN2), ectodysplasin A (EDA), and wingless-type MMTV integration site family member 10A (WNT10A). In this study, we investigated a Chinese family with non-syndromic tooth agenesis.

A novel initiation codon mutation of PAX9 in a family with oligodontia.

Objective: Recent studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, AXIN2, WNT10A and EDA. In this study, mutation of PAX9gene was investigated in a four-generation Chinese family with oligodontia.

Design: Genomic DNA was isolated from the blood samples of all the available family members.