Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).
|
15253765 |
2004 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiple osteochondromas (MO) is an autosomal dominant condition, caused by mutations in either the EXT1 or the EXT2 gene.
|
15586175 |
2005 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiple hereditary exostoses (MHE) is an autosomal dominant skeletal disorder caused by mutations in one of the two EXT genes and characterized by multiple osteochondromas that generally arise near the ends of growing long bones.
|
16476576 |
2006 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coding exons of EXT1 and EXT2 were screened in 72 unrelated probands affected with MO.
|
17041877 |
2006 |
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilage-capped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene.
|
17341731 |
2007 |
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The tumor suppressor genes EXT1 and EXT2 are involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas.
|
19179614 |
2009 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
|
19344451 |
2009 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The genetics of these tumors is intriguing ranging from single gene event (ie, EXT mutation in multiple osteochondromas) to heterogeneous rearrangements with no recurrent involved chromosomal regions such as in chondroblastoma.
|
19700940 |
2009 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this article, the clinical aspects and molecular genetics of EXT1 and EXT2 are reviewed together with 895 variants in MO patients.
|
19810120 |
2009 |
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
An in vitro three-dimensional chondrogenic pellet model was used to compare heterozygous bone marrow-derived mesenchymal stem cells (MSCs EXT(wt/-)) of MO patients with normal MSCs and the corresponding tumor specimens (presumed EXT(-/-)).
|
20813973 |
2010 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiple osteochondromas (MO) is an autosomal-dominant disorder and mutations in EXT1 and EXT2 account up to 78% of the cases studied, including missense, nonsense, frameshift, and splice-site mutations.
|
20872591 |
2010 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases.
|
21280143 |
2011 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO).
|
21533187 |
2011 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases.
|
21703028 |
2011 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since mutations in the EXT1 gene are responsible for ~65% of the MO families with known causal mutation, our aim was to isolate and characterize the EXT1 promoter region to elucidate the transcriptional regulation of this tumor suppressor gene.
|
22037484 |
2012 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
|
22040554 |
2011 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coding exons of EXT1 and EXT2 were screened in 10 probands affected with MO.
|
22820392 |
2012 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.
|
23341036 |
2013 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
|
23439489 |
2013 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
|
23629877 |
2013 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The novel c.1457insG deleterious mutation of EXT1 gene reported in this study expands the causal mutation spectrum of MO, and may be helpful for prenatal genetic screening and early diagnosis of MO.
|
24009674 |
2013 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of MO in Chinese patients.
|
24120389 |
2013 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes.
|
25744876 |
2015 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
EXT1 is involved in the biosynthesis of heparan sulfate (HS), an essential molecule, and its dysfunction may lead to MO.
|
28035357 |
2017 |