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 |
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 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 |
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 |
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 |
The coding exons of EXT1 and EXT2 were screened in 10 probands affected with MO.
|
22820392 |
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 |
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 |
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 |
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 |
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 |
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
|
23629877 |
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 |
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
|
23439489 |
2013 |
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 |
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
|
22040554 |
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 |
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 |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |
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 |
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 |
Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.
|
28849184 |
2017 |
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 |
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 |