|
Exostoses
|
0.100 |
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
|
0.100 |
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
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Three subtypes have been described: TRPS I, caused by mutations in TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses.
|
24357341 |
2014 |
|
Exostoses
|
0.100 |
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
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
EXT1 mutations were more commonly observed in those with shoulder exostoses (odds ratio [OR], 20.6; 95% confidence interval [CI], 11.2-28.5; P = .001).
|
21106401 |
2011 |
|
Exostoses
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Among the novel mutations in EXT1, c.1004T>G-associated HME exhibited overriding toes and scoliosis, c.1883+2T>A-associated HME exhibited brachydactyly, and c.459_460delCT-associated exostosis arising from vertebra T4 caused spinal cord compression.
|
21039224 |
2010 |
|
Exostoses
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Patients with EXT1-linkage and patients with undetermined linkage (EXT?) were more severely affected, underwent more surgeries, and showed a higher number of exostoses at follow-up.
|
17676624 |
2007 |
|
Exostoses
|
0.100 |
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
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with EXT 1 mutation were found to have more exostoses, more limb malalignment with shorter limb segments and height, and more pelvic and flatbone involvement.
|
16879194 |
2006 |
|
Exostoses
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Germline mutations in the Exostoses-1 gene (EXT1) are found in hereditary multiple exostoses syndrome, which is characterized by the formation of osteochondromas and an increased risk of chondrosarcomas and osteosarcomas.
|
15385438 |
2004 |
|
Exostoses
|
0.100 |
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
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
DNA from the HME exostoses demonstrated heterozygous germline EXT1 or EXT2 mutations, and DNA from one solitary exostosis demonstrated a somatic EXT1 mutation.
|
12110435 |
2002 |
|
Exostoses
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Among the four loci, the exostosis type 1 gene (EXT1) and type 2 gene (EXT2) have been cloned.
|
11170095 |
2001 |
|
Exostoses
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The most severe forms of the disease and malignant transformation of exostoses to chondrosarcomas were associated with EXT1 mutations.
|
11432960 |
2001 |
|
Exostoses
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses.
|
11112658 |
2001 |
|
Exostoses
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.
|
10934647 |
2000 |
|
Exostoses
|
0.100 |
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
|
0.100 |
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 |