Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis.
|
31781599 |
2019 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in AXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops.
|
30671715 |
2019 |
Agenesis
|
0.100 |
Biomarker
|
disease |
BEFREE |
A number of different genes have been shown to be associated with cases of tooth agenesis including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGFA.
|
29893310 |
2018 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also identified one variant in the AXIN2 gene as being a putative risk factor for tooth agenesis.
|
29114927 |
2018 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
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 |
Agenesis
|
0.100 |
Biomarker
|
disease |
BEFREE |
To date, the mutation spectra of non-syndromic form of familial and sporadic tooth agenesis in humans have revealed defects in various such genes that encode transcription factors, MSX1 and PAX9 or genes that code for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1).
|
24121910 |
2014 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The finding was reminiscent of a previously described family harboring an AXIN2 mutation which could be shown to segregate with both the tooth agenesis and the predisposition to colon cancer transmitted in this family.
|
24631698 |
2014 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, tooth agenesis was associated with positive self-reported family history of cancer and with variants in AXIN2, FGF3, FGF10, and FGFR2.
|
23169889 |
2013 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three genes, PAX9, MSX1, and AXIN2, have been determined to be associated with autosomal dominant and recessive tooth agenesis.
|
21091672 |
2010 |
Agenesis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We observed only borderline results for the association of AXIN2 and CDH1 with CL/P with and without tooth agenesis.
|
18683894 |
2009 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Future studies should identify which specific tooth agenesis sub-phenotypes are consequence of AXIN2 genetic variations.
|
18790474 |
2009 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes PAX9, MSX1 and AXIN2 have been determined to be associated with autosomal-dominant tooth agenesis.
|
18657636 |
2009 |
Agenesis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Msx1, Pax9, and Axin2 are involved in non-syndromic hypodontia, while genes such as Shh, Pitx2, Irf6, and p63 are considered to participate in syndromic genetic disorders, which include tooth agenesis.
|
18573979 |
2008 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer).
|
18499550 |
2008 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using multi-temperature single-stranded conformational polymorphism and sequencing analysis, we identified three novel AXIN2 gene variants: c.956+16A > G, c.1060-17C > T and c.2062C > T. We also observed that individuals carrying the c.956+16G and c.2062T alleles exhibited an increased risk of tooth agenesis.
|
16432638 |
2006 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis.
|
15042511 |
2004 |