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 |
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 |
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 |
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 |
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 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.
|
29989442 |
2019 |
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 |
Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases.
|
21280143 |
2011 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.
|
28849184 |
2017 |
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 |
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 |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |
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 |
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 |
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
|
22040554 |
2011 |
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Exostosin-1/Exostosin-2 (EXT1/EXT2) genes are the main molecular basis of MO.
|
28690282 |
2017 |
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 |
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
|
19344451 |
2009 |
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 |
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 |
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 |
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
|
30632316 |
2019 |
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 |
The coding exons of EXT1 and EXT2 were screened in 72 unrelated probands affected with MO.
|
17041877 |
2006 |