|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Osteochondromas were more frequent in EXT1 as compared to EXT2 patients.
|
30806661 |
2019 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The more significant positive rate of EXT1 in condylar osteochondroma implied differential biological characteristic as compared to condylar hyperplasia.
|
31842965 |
2019 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Osteochondroma development requires a somatic "second hit" that would complement the germline EXT mutation to further decrease HS production and/levels at perichondrial sites of osteochondroma induction.
|
29277722 |
2018 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this work, osteochondroma (OC), peripheral chondrosarcoma, and healthy cartilaginous human samples were processed following a procedure previously set up to structurally characterize and compare HS from pathologic and physiologic conditions, and to examine the phenotypic differences that arise in the presence of either exostosin 1 or 2 (<i>EXT1</i> or <i>EXT2</i>) mutations.
|
30544937 |
2018 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The establishment of mouse mutants demonstrated that a clonal, homozygous loss of Ext1 in a wild type background leads to the development of osteochondromas.
|
29545125 |
2018 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Systemic administration with LDN-193189 effectively inhibited osteochondroma growth in conditional Ext1-mutant mice.
|
28445472 |
2017 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We demonstrate that progenitor cells in the perichondrium, including those in the groove of Ranvier, highly express HS and that Ext1 ablation targeted to the perichondrium results in the development of osteochondromas.
|
28768899 |
2017 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
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 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data therefore point to a model of oncogenesis in which the osteochondroma creates a niche in which wild-type cells with functional EXT are predisposed to acquire other mutations giving rise to secondary peripheral chondrosarcoma, indicating that EXT-independent mechanisms are involved in the pathogenesis of secondary peripheral chondrosarcoma.
|
21804604 |
2012 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The diagnostic criteria are at least two osteochondromas of the juxta-epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one of the EXT genes.
|
21499719 |
2011 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe the genetic examination of three secondary peripheral chondrosarcomas that had arisen synchronously from osteochondromas in a patient with MO by chromosome banding, high resolution chromosomal comparative genomic hybridization, and mutation analysis of the EXT1 and EXT2 genes.
|
22285020 |
2011 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Based on this, we propose the existence of a mixture ('mosaic') of normal lining (EXT(+/-) or EXT(wt/wt)) and EXT(-/-) cells in the cartilaginous cap of osteochondromas.
|
20421870 |
2010 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that mechanisms alternative to EXT genetic alteration likely have a role in osteochondromas pathogenesis.
|
20418910 |
2010 |
|
Cartilaginous exostosis
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Together, our results suggest that inactivation of Ext1 in a small fraction of chondrocytes is sufficient for the development of osteochondromas and other skeletal defects associated with MHE.
|
20534475 |
2010 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We demonstrated a second hit in EXT in five of eight osteochondromas.
|
20813973 |
2010 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We also confirm homozygous disruption of Ext1 in osteochondroma chondrocytes and their origin in proliferating physeal chondrocytes.
|
20080592 |
2010 |
|
Cartilaginous exostosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Reduced EXT1 or EXT2 expression in osteochondromas is associated with disordered cellular distribution of HSPGs, resulting in defective endochondral ossification which is likely to be involved in the formation of osteochondromas.
|
18853760 |
2008 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
There is deficiency of heparan sulfate and perlecan, together with accumulation of collagens, in the matrix of EXT1-associated osteochondromas.
|
18216313 |
2008 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FISH analysis of the cartilage cap, perichondrium, and bony stalk showed that these homozygous EXT1 deletions were present only in the cartilage cap of osteochondroma.
|
17341731 |
2007 |
|
Cartilaginous exostosis
|
0.100 |
Biomarker
|
disease |
LHGDN |
FISH analysis of the cartilage cap, perichondrium, and bony stalk showed that these homozygous EXT1 deletions were present only in the cartilage cap of osteochondroma.
|
17341731 |
2007 |
|
Cartilaginous exostosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We investigated the expression of EXT1 and EXT2 (quantitative RT-PCR) and of different HSPGs (immunohistochemistry) in solitary and hereditary osteochondromas and in cases with malignant progression to secondary peripheral chondrosarcoma, in relation to possible mutations and promoter methylation.
|
17226760 |
2007 |
|
Cartilaginous exostosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The EXT genes, involved in the hereditary multiple osteochondromas syndrome, and downregulated in osteochondroma, were normally expressed in DEH and MC as shown by quantitative reverse transcriptase-polymerase chain reaction (qPCR).
|
16622899 |
2006 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Cartilaginous exostosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in either exostosin 1 (EXT1) or exostosin 2 (EXT2) gene cause the HME syndrome and also some isolated osteochondromas.
|
16026543 |
2005 |