[HTML][HTML] Two novel mutations in MSX1 causing oligodontia

L Yang, J Liang, H Yue, Z Bian - PLoS One, 2020 - journals.plos.org
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 …

[HTML][HTML] Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

O Bonczek, P Bielik, P Krejčí, T Zeman… - PLoS …, 2018 - journals.plos.org
Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350
genes have been associated with teeth development. In this study, we enrolled 60 child …

Characterization of novel MSX1 variants causally associated with non‐syndromic oligodontia in Chinese families

Y Zhao, J Ren, L Meng, Y Hou, C Liu… - … Genetics & Genomic …, 2024 - Wiley Online Library
Abstract Background MSX1 (OMIM# 142983) is crucial to normal dental development, and
variants in MSX1 are associated with dental anomalies. The objective of this study was to …

A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree

J Xue, Q Gao, Y Huang, X Zhang, P Yang, DS Cram… - Clinica Chimica …, 2016 - Elsevier
Background Tooth agenesis is a common developmental dental anomaly. The aim of the
study was to identify the causal genetic mutation in a four-generation Chinese family …

[HTML][HTML] Novel MSX1 variants identified in families with nonsyndromic oligodontia

J Zheng, M Yu, H Liu, T Cai, H Feng, Y Liu… - International journal of …, 2021 - nature.com
The goal of this study was to identify MSX1 gene variants in multiple Chinese families with
nonsyndromic oligodontia and analyse the functional influence of these variants. Whole …

[HTML][HTML] Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

J Adachi, Y Aoki, T Tatematsu, H Goto… - Human Genome …, 2021 - nature.com
Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of
human tooth agenesis by exome analysis in Japanese patients, and found a previously …

[HTML][HTML] Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis

S Yamaguchi, J Machida, M Kamamoto, M Kimura… - PLoS …, 2014 - journals.plos.org
Since MSX1 and PAX9 are linked to the pathogenesis of nonsyndromic tooth agenesis, we
performed detailed mutational analysis of these two genes sampled from Japanese patients …

Orodental malformations associated with human MSX1 sequence variants

YL Wang, KY Chu, TF Hsieh, CCJ Yao, CH Lin… - The Journal of the …, 2024 - Elsevier
Background MSX1 sequence variants have been known to cause human tooth agenesis
(TA) with or without orofacial clefts. However, their roles during the whole processes of tooth …

A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia

SW Wong, HC Liu, D Han, HG Chang, HS Zhao… - …, 2014 - academic.oup.com
Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the
third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic …

[HTML][HTML] A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families

MS Chishti, D Muhammad, M Haider… - Journal of human …, 2006 - nature.com
Tooth agenesis constitutes the most common anomaly of dental development in humans. In
the majority of familial cases of hypodontia alone or in association with other anomalies, the …