|
rs121908120
|
|
|
0.810 |
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 |
|
rs515726227
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia.
|
24914010 |
2014 |
|
rs11001553
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the Chinese Han population.
|
24737523 |
2014 |
|
rs11001553
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant difference was observed, between subjects with non-syndromic hypodontia and controls, in the allele and genotype frequencies of two markers [rs929387 of GLI family zinc finger 3 (GLI3) and rs11001553 of Dickkopf-related protein 1 (DKK1)].
|
22984994 |
2012 |
|
rs121908568
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis.
|
27090353 |
2016 |
|
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 |
|
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 |
|
rs4904210
|
|
|
0.020 |
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 |
|
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 |
|
rs730882193
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation.
|
26025668 |
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 |
|
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 |
|
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 |
|
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 |
|
rs132630321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
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 |
|
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 |
|
rs1418913084
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
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 |
|
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 |
|
rs28933971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia.
|
14689302 |
2004 |
|
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 |
|
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 |