|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An initiation codon mutation of the PAX9 gene was found in the proband and segregating with oligodontia in the family.
|
30809714 |
2019 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia.
|
28847717 |
2017 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel PAX9 mutation causing oligodontia.
|
28965043 |
2017 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia.
|
28155232 |
2017 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel initiation codon mutation of PAX9 in a family with oligodontia.
|
26571067 |
2016 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The objective of the present study was to search for Msh homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin‑A (EDA) and axis inhibition protein 2 (AXIN2) variants in a family with isolated oligodontia and analyse the pathogenesis of mutations that result in oligodontia phenotypes.
|
25377791 |
2015 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This screening revealed a previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia and three additional affected family members.
|
25683653 |
2015 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, the genotype (AG + GG) of IVS2-54 in the PAX9 gene may be a protective factor for oligodontia (odds ratio = 0.21, 95% confidence interval = 0.07-0.63, P = 0.005).
|
25501211 |
2014 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Six families segregating non-syndromic oligodontia/hypodontia were screened for mutations in PAX9 gene.
|
22747565 |
2013 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated phenotype and AXIN2, MSX1, and PAX9 gene variations in two Mexican families with non-syndromic oligodontia.
|
24222224 |
2013 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two novel missense mutations in PAX9 have been indentified in Chinese families causing oligodontia.
|
22277187 |
2012 |
|
Oligodontia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Previous studies have indicated that mutations in the homeobox gene MSX1, paired domain transcription factor PAX9, and EDA are associated with non-syndromic oligodontia.
|
21098475 |
2011 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings may imply that the PAX9 A240P mutation is a risk factor for oligodontia in the Chinese population.
|
21530942 |
2011 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes.
|
21626677 |
2011 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present work, we sequenced fragments of the PAX9 gene in individuals with sporadic oligodontia.
|
20618716 |
2010 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Deletion of PAX9 and oligodontia: a third family and review of the literature.
|
18445003 |
2008 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The occurrence of non-syndromic still remains poorly understood, but in recent years some cases have been reported where mutations or polymorphisms of PAX9 and MSX1 had been associated with non-syndromic oligodontia.
|
18374898 |
2008 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.
|
18028048 |
2007 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Analyses of PAX9 and MSX1 in nine families with hypodontia and oligodontia revealed one new PAX9 mutation.
|
17697174 |
2007 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the pathogenic mechanism producing oligodontia phenotype caused by this mutation, we analyzed the binding of wild-type and mutant PAX9 paired domain protein to double-stranded DNA targets.
|
17910065 |
2007 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Considering the discrepancy between the high incidence rate of agenesis and the relatively small number of reported causative mutations in PAX9, MSX1 and AXIN2 genes, the genetic contribution to oligodontia probably is much more heterogeneous than expected so far.
|
16918677 |
2006 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results support the view that mutations in PAX9 constitute a causative factor in nonsyndromic oligodontia.
|
16333316 |
2006 |
|
Oligodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The most distinguishing feature of MSX1-associated oligodontia is the frequent (75%) absence of maxillary first bicuspids, while the most distinguishing feature of PAX9-associated oligodontia is the frequent (> 80%) absence of the maxillary and mandibular second molars.
|
16498076 |
2006 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we describe a novel mutation in PAX9 in a family with molar oligodontia.
|
16479262 |
2006 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened one family with non-syndromic oligodontia for mutations in MSX1 and PAX9.
|
15615874 |
2005 |