Non-syndromic severe hypodontia caused by a novel frameshift insertion mutation in the homeobox of the MSX1 gene

MF Abid, MA Simpson, C Petridis, MT Cobourne… - Archives of oral …, 2017 - Elsevier
Objective Inherited congenital anomalies in tooth number, particularly hypodontia are
relatively common. Although substantial progress has been made that permits a better …

Absence of mutations in the homeodomain of the MSX1 gene in patients with hypodontia

RM Scarel, PC Trevilatto, O Di Hipólito Jr… - American journal of …, 2000 - Wiley Online Library
Hypodontia, the congenital absence of one or a few permanent teeth, is one of the most
frequent alterations of the human dentition. Although hypodontia does not represent a public …

[HTML][HTML] Clinical and functional data implicate the Arg (151) Ser variant of MSX1 in familial hypodontia

M Kamamoto, J Machida, S Yamaguchi… - European Journal of …, 2011 - nature.com
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 …

Polymorphism in the MSX1 gene in a family with upper lateral incisor agenesis

BRB Junior, S Echeverrigaray - Archives of Oral Biology, 2012 - Elsevier
OBJECTIVE: The MSX1 gene plays a key role in odontogenesis regulation, particularly
during early stages. Since only a few genetic variants have thus far been associated with …

[HTML][HTML] An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese …

T Tatematsu, M Kimura, M Nakashima, J Machida… - PLoS …, 2015 - journals.plos.org
Congenital tooth agenesis is caused by mutations in the MSX1, PAX9, WNT10A, or AXIN2
genes. Here, we report a Japanese family with nonsyndromic tooth agenesis caused by a …

A novel MSX1 mutation in hypodontia

S De Muynck, E Schollen, G Matthijs… - American Journal of …, 2004 - Wiley Online Library
MSX1 mutations have been reported in four unrelated families with autosomal dominant
tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have …

Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars

A Mostowska, B Biedziak, PP Jagodzinski - Archives of oral biology, 2012 - Elsevier
OBJECTIVE: Tooth agenesis is the most common developmental anomaly of the human
dentition, with aetiology involving both genetic and environmental factors. The aim of the …

Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes

P Nieminen, S Arte, S Pirinen, L Peltonen, I Thesleff - Human Genetics, 1995 - Springer
Hypodontia, congenital lack of one or a few teeth, is an autosomally inherited dominant trait.
Homeobox genes MSX1 and MSX2 are expressed in presumptive dental tissues at the …

A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia

T Ma, Y Liu, X Zhao, J Wu, H Wang… - Annals of Human …, 2020 - Wiley Online Library
Mutations of MSX1 have been associated with nonsyndromic hypodontia. To seek the
causal gene mutation sites in a family with nonsyndromic oligodontia, whole‐exome …

The role of MSX1 in human tooth agenesis

AC Lidral, BC Reising - Journal of dental research, 2002 - journals.sagepub.com
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 …