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 …

MSX1 has been considered a strong candidate for orofacial clefting, based on mouse
expression studies and knockout models, as well as association and linkage studies in …

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 …

MSX1 has a critical role in craniofacial development, as indicated by expression assays and
transgenic mouse phenotypes. Previously, MSX1 mutations have been identified in three …

Objective Muscle segment homeobox gene 1 (MSX1) is widely expressed in craniofacial
development and tooth formation. The aim of this study was to report a novel MSX1 mutation …

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 …

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 …

Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the
third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic …

MSX1 is a causative gene for oligodontia in humans. Although conventional Msx1-deficient
mice die neonatally, a mutant mouse lacking the C-terminus MH6 domain of MSX1 (Msx1 …

Multiple previous reports confirm that several missense alleles of MSX1 exhibit Mendelian
inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides …