Exostoses
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
|
26246518 |
2015 |
Exostoses
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Hereditary multiple exostoses patients carry heterozygous mutations in the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2, but studies suggest that EXT haploinsufficiency and ensuing partial HS deficiency are insufficient for exostosis formation.
|
25863260 |
2015 |
Exostoses
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We hypothesized that loss of function of EXT1 or EXT2 in subjects with hereditary multiple exostoses (HME) affects pancreatic insulin secretion capacity and development.
|
25541963 |
2014 |
Exostoses
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In our cohort of patients, variables such as female sex (odds ratio = 1.840; 95% confidence interval, 1.223 to 2.766), fewer than five skeletal sites with exostoses (odds ratio = 7.588; 95% confidence interval, 3.479 to 16.553), EXT2 mutations (odds ratio = 2.652; 95% confidence interval, 1.665 to 4.223), and absence of EXT1/2 mutations (odds ratio = 1.975; 95% confidence interval, 1.051 to 3.713) described patients with a mild phenotype; in contrast, a severe phenotype was associated with male sex (odds ratio = 2.431; 95% confidence interval, 1.544 to 3.826), EXT1 mutations (odds ratio = 6.817; 95% confidence interval, 1.003 to 46.348), and more than twenty affected skeletal sites (odds ratio = 2.413; 95% confidence interval, 1.144 to 5.091).
|
22258776 |
2011 |
Exostoses
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported.
|
16638657 |
2006 |
Exostoses
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
This provides limited support for the two-hit hypothesis involving the EXT1 and EXT2 genes for the development of an exostosis.
|
12239711 |
2002 |
Exostoses
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Among the four loci, the exostosis type 1 gene (EXT1) and type 2 gene (EXT2) have been cloned.
|
11170095 |
2001 |
Exostoses
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In this study, we have characterized exostosis chondrocytes from three patients with HME (one with EXT1 and two with EXT2 germline mutations) and from one individual with a non-HME, isolated exostosis.
|
10750558 |
2000 |
Exostoses
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses.
|
10679937 |
2000 |
Exostoses
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Two homologous genes, EXT1 and EXT2, responsible for the development of benign multiple cartilagenous bone tumors (exostoses) on the long bones, have been identified in the past 2 years.
|
9479495 |
1998 |
Exostoses
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|