×
Entrez Id:
4487
Gene Symbol:
MSX1
MSX1
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
×
Entrez Id:
8313
Gene Symbol:
AXIN2
AXIN2
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
×
Entrez Id:
4487
Gene Symbol:
MSX1
MSX1
0.100
GeneticVariation
disease
BEFREE
We have also identified families with tooth agenesis in whom PAX9 and MSX1 mutations have been excluded opening up the possibilities for the discovery of other genes that contribute to human tooth agenesis .
17973693
2007
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis . A genetic study and literature review.
24316698
2014
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.100
GeneticVariation
disease
BEFREE
Mutations in PDX1, PTF1A, HNF1B, EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia.
23639568
2013
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
PAX9 gene mutations and tooth agenesis : A review.
28155232
2017
×
Entrez Id:
4487
Gene Symbol:
MSX1
MSX1
0.100
GeneticVariation
disease
BEFREE
We conclude that this frameshift mutation in the homeodomain (which plays an essential role in DNA binding) of MSX1 gene is responsible for tooth agenesis in this family.
27951410
2017
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.100
Biomarker
disease
BEFREE
GATA4 and GATA6 play essential, but redundant, roles in pancreas formation in mice, and <i>GATA6</i> mutations cause pancreatic agenesis in humans.
29263149
2018
×
Entrez Id:
80326
Gene Symbol:
WNT10A
WNT10A
0.100
Biomarker
disease
BEFREE
The WNT10A gene has been confirmed as the second molecular candidate that has been identified and accounts for one-half of non-EDA patients and one-third of NSTA patients.
31796081
2019
×
Entrez Id:
80326
Gene Symbol:
WNT10A
WNT10A
0.100
GeneticVariation
disease
BEFREE
WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies.
25545742
2015
×
Entrez Id:
8313
Gene Symbol:
AXIN2
AXIN2
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
×
Entrez Id:
4487
Gene Symbol:
MSX1
MSX1
0.100
GeneticVariation
disease
BEFREE
Although our results are consistent with a lack of association of MSX1 rs12532 and the risk of unilateral NSCLP and tooth agenesis , further studies with additional SNPs and a more diverse ethnic cohort are warranted.
31568994
2020
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
PAX9 polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study.
24160254
2013
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population.
15329380
2004
×
Entrez Id:
80326
Gene Symbol:
WNT10A
WNT10A
0.100
Biomarker
disease
BEFREE
Fourteen variants in/nearby WNT10A , WNT10B and GREM2 were genotyped to test for association with tooth agenesis .
30246922
2018
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
These results suggest that the four PAX9 polymorphisms alone have a non-significant main effect on the risk of tooth agenesis but that the AGGC haplotype may have a protective effect associated with a decreased risk of tooth agenesis .
18353002
2008
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.100
GeneticVariation
disease
BEFREE
These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans.
25706805
2015
×
Entrez Id:
4487
Gene Symbol:
MSX1
MSX1
0.100
GeneticVariation
disease
BEFREE
Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1 -gene impairment.
24979523
2014
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.100
GeneticVariation
disease
BEFREE
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
23223019
2013
×
Entrez Id:
80326
Gene Symbol:
WNT10A
WNT10A
0.100
GeneticVariation
disease
BEFREE
Only few of the probands but several relatives with heterozygous genotypes of WNT10A or EDAR conformed to the common type of non-syndromic tooth agenesis , incisor-premolar hypodontia.
23991204
2013
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
Novel PAX9 mutation associated with syndromic tooth agenesis .
24028587
2013
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
Genetic disturbances of MSX1 and PAX9 genes are associated with tooth agenesis within and outside the cleft area.
23718693
2013
×
Entrez Id:
4487
Gene Symbol:
MSX1
MSX1
0.100
GeneticVariation
disease
BEFREE
So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth.
11827258
2002
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
GeneticVariation
disease
BEFREE
Polymorphisms in the upstream promoter region of the human PAX9 have been associated with human non-syndromic tooth agenesis .
21085804
2011
×
Entrez Id:
5083
Gene Symbol:
PAX9
PAX9
0.100
Biomarker
disease
BEFREE
It is therefore proposed that haploinsufficiency of PAX9 is the causal factor for tooth agenesis in this family.
28847717
2017