|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.
|
29989442 |
2019 |
|
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 |
The majority of mutations associated with MO occur in the exostosin glycosyltransferase genes (<i>EXT)1</i> or <i>EXT2</i>.
|
30250583 |
2018 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in Brazilian population.
|
29529714 |
2018 |
|
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 |
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 |
Mutations in Exostosin-1/Exostosin-2 (EXT1/EXT2) genes are the main molecular basis of MO.
|
28690282 |
2017 |
|
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 |
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 |
Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.
|
23341036 |
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 |
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
|
23629877 |
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 |
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
|
23439489 |
2013 |
|
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 |
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 |
Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases.
|
21280143 |
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 |
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 |
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
|
22040554 |
2011 |
|
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 |
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 |
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 |
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 |