Non-syndromic severe hypodontia caused by a novel frameshift insertion mutation in the homeobox of the MSX1 gene
Objective Inherited congenital anomalies in tooth number, particularly hypodontia are
relatively common. Although substantial progress has been made that permits a better …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
transgenic mouse phenotypes. Previously, MSX1 mutations have been identified in three …