|
rs4904210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings may imply that the PAX9 A240P</span> mutation is a risk factor for oligodontia in the Chinese population.
|
21530942 |
2011 |
|
rs730882193
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.
|
21416598 |
2011 |
|
rs121908568
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2.
|
15042511 |
2004 |
|
rs121908119
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among them, the stop codon p.C107* as well as the biallelic p.F228I variants correlate with the most severe oligodontia phenotypes.
|
30426266 |
2019 |
|
rs121909637
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation of TP63 (c.1010G>T; R337L) leads to SHFM with hypodontia.
|
31420900 |
2019 |
|
rs2240308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia.
|
31781599 |
2019 |
|
rs374910216
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified a novel missense variant (c.311G>A; p.Arg104His) in <i>WNT10A</i> in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in <i>EDAR</i> in three patients of family B and four patients of family C, respectively.
|
31652981 |
2019 |
|
rs8670
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results showed that the variant genotype (<i>p</i>=0.0008, OR = 2.9, 95% CI = 1.58-5.3) and variant T allele (<i>p</i>=0.0002, OR = 2.65, 95% CI = 1.6-4.39) of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population when the whole NSH group was compared with controls.
|
31781599 |
2019 |
|
rs142343894
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The previously described, functional GREM2 mutation (c.226C > G, p.Gln76Glu) was identified in two patients with hypodontia and associated dental anomalies, including taurodontism and microdontia.
|
28992378 |
2018 |
|
rs147680216
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel compound heterozygous missense mutation in WNT10A (c.637G>A:p.Gly213Ser and c.1070C>T:p.Thr357Ile) as the likely cause of autosomal recessive oligodontia in the child.
|
29178643 |
2017 |
|
rs750190755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel compound heterozygous missense mutation in WNT10A (c.637G>A:p.Gly213Ser and c.1070C>T:p.Thr357Ile) as the likely cause of autosomal recessive oligodontia in the child.
|
29178643 |
2017 |
|
rs752881223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we identified a de novo AXIN2 missense mutation (c.314T>G) in a Chinese individual with non-syndromic oligodontia.
|
26406231 |
2015 |
|
rs1095
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, these meta-analysis results demonstrated that polymorphisms in the rs1095 region of the MSX1 gene may influence the transcriptional activity of this gene and are associated with hypodontia in humans.
|
25501212 |
2014 |
|
rs12881240
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Similarly, the T allele and T carrier (CT + TT) of C912T and rs12881240 in the PAX9 gene also indicated an increased risk of hypodontia.
|
25501211 |
2014 |
|
rs1392844787
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Searches for mutations in these candidate genes detected a novel nonsense mutation (c.416G>A) in exon 1 of MSX1 from a family with oligodontia.
|
24329876 |
2014 |
|
rs374534090
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a sporadic hypodontia case and Leu205Arg (L205R) from a familial oligodontia case.
|
25101640 |
2014 |
|
rs377467108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a sporadic hypodontia case and Leu205Arg (L205R) from a familial oligodontia case.
|
25101640 |
2014 |
|
rs7143727
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the C allele and C carrier (CG + CC) of 718C, IVS2-109, rs4904210, and rs7143727 showed no significant association with oligodontia.
|
25501211 |
2014 |
|
rs754287422
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Searches for mutations in these candidate genes detected a novel nonsense mutation (c.416G>A) in exon 1 of MSX1 from a family with oligodontia.
|
24329876 |
2014 |
|
rs34165410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our finding suggests that identified polymorphisms (c.348C>T and c.469+56delins GCCGGGTGGGG) may be responsible for the oligodontia phenotype in this Chinese family, but the association requires further study.
|
23731659 |
2013 |
|
rs929387
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a previous study, we observed that polymorphism in rs929387 of GLI3 might be associated with hypodontia in the Chinese Han population based on a limited population.
|
24278334 |
2013 |
|
rs1270965996
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs139871607
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs67682641
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs67707918
|
|
|
0.010 |
GeneticVariation |
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 |