|
Hypodontia
|
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 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This novel mutation (c.G1057A) in PAX9 caused hypodontia by altering PAX9 gene function and downregulating BMP4 gene expression.
|
30256498 |
2019 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The Brain-Lung-Thyroid syndrome (OMIM#610978; ORPHA:209905) associated with other clinical phenotypes should suggest monoallelic deletions of chromosome 14 causing haploinsufficiency of NKX2-1, and other contiguous genes like PAX9 (hypodontia) or other dosage-sensitive genes in the chromosomal vicinity that emerge as candidates for hypogammaglobulinemia, mainly NFKBIA.
|
29477862 |
2018 |
|
Hypodontia
|
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 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel PAX9 mutation causing oligodontia.
|
28965043 |
2017 |
|
Hypodontia
|
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 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel initiation codon mutation of PAX9 in a family with oligodontia.
|
26571067 |
2016 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth.
|
28040065 |
2016 |
|
Hypodontia
|
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 |
|
Hypodontia
|
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 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our meta-analysis results revealed 4 genetic sites of the PAX9 gene involved in hypodontia cases, of which 3 sites may be risk factors and 1 may have a protective role.
|
25501211 |
2014 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The PAX9-1031-A-PAX9-912-T haplotype was the most relevant combination causing hypodontia.
|
23964635 |
2014 |
|
Hypodontia
|
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 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional factors and activity of this gene and are associated with hypodontia in Caucasian individuals.
|
24160254 |
2013 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Six families segregating non-syndromic oligodontia/hypodontia were screened for mutations in PAX9 gene.
|
22747565 |
2013 |
|
Hypodontia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
|
22581971 |
2012 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family.
|
23227268 |
2012 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two novel missense mutations in PAX9 have been indentified in Chinese families causing oligodontia.
|
22277187 |
2012 |
|
Hypodontia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we investigated the PAX9 gene as a candidate gene for hypodontia in five unrelated Chinese patients with tooth agenesis.
|
22058014 |
2012 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Based on our previous findings that haploinsufficiency for PAX9 leads to hypodontia, we postulate that the g.-1258G>A variant reduces the expression of PAX9 which underlies the hypodontia phenotype in this family.
|
21443745 |
2011 |
|
Hypodontia
|
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 |
|
Hypodontia
|
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 |
|
Hypodontia
|
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 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present work, we sequenced fragments of the PAX9 gene in individuals with sporadic oligodontia.
|
20618716 |
2010 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Study models were obtained from 10 family members from three generations affected by severe hypodontia with a missense mutation in PAX9 and 10 unaffected, unrelated controls.
|
18653171 |
2009 |