|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we report a Chinese family with HME and our mutational analyses of the EXT1 and EXT2 genes in affected and unaffected individuals.
|
29989442 |
2019 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, a novel heterozygous splice mutation (c.1284+2del) in exostosin glycosyltransferase 1 (EXT1) gene was identified in a three‑generation family with HME.
|
30664192 |
2019 |
|
Hereditary Multiple Exostoses
|
1.000 |
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 |
|
Hereditary Multiple Exostoses
|
1.000 |
Biomarker
|
disease |
BEFREE |
The exostosin-1 (EXT-1) and exostosin-2 (EXT-2) gene mutations are well-defined molecular mechanisms in the pathogenesis of HME.
|
31211456 |
2019 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Overall, we identified 5 novel mutations and 1 recurrent mutation in the EXT1 and EXT2 genes in 6 Chinese families with HME.
|
31096510 |
2019 |
|
Hereditary Multiple Exostoses
|
1.000 |
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 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New findings show that the spectrum of EXT mutations is larger than previously realized and the clinical complications of HME extend beyond the skeleton.
|
29277722 |
2018 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in Brazilian population.
|
29529714 |
2018 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The serum CGRP concentration of ME patients (623 + 49 pg/ml) was significantly higher than that of normal controls (196 + 68 pg/ml), and EXT1 mutation patients were also higher than non mutation patients.
|
30262140 |
2018 |
|
Hereditary Multiple Exostoses
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2.
|
28445472 |
2017 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.
|
28849184 |
2017 |
|
Hereditary Multiple Exostoses
|
1.000 |
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 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2.
|
28445472 |
2017 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Exostosin-1/Exostosin-2 (EXT1/EXT2) genes are the main molecular basis of MO.
|
28690282 |
2017 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although it has been well established that MHE is caused by mutations in EXT1 and EXT2, which encode glycosyltransferase essential for heparan sulfate (HS) biosynthesis, the cellular origin and molecular mechanisms of MHE remain elusive.
|
28768899 |
2017 |
|
Hereditary Multiple Exostoses
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |
|
Hereditary Multiple Exostoses
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
|
27616605 |
2016 |
|
Hereditary Multiple Exostoses
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in TG homeostasis, we analyzed fasting and postprandial TG levels in mice bearing combined heterozygous mutations in both Exostosin (Ext) 1 and Ldlr, in subjects with hereditary multiple exostosis (HME) due to a heterozygous loss-of-function mutation in EXT1 or EXT2 (N = 13), and in patients with heterozygous mutations in LDLR [familial hypercholesterolemia (FH)] and SNPs in major HSPG-related genes (n = 22).
|
25568062 |
2015 |
|
Hereditary Multiple Exostoses
|
1.000 |
Biomarker
|
disease |
BEFREE |
The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses.
|
25792522 |
2015 |
|
Hereditary Multiple Exostoses
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.
|
26515642 |
2015 |
|
Hereditary Multiple Exostoses
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?
|
26239617 |
2015 |
|
Hereditary Multiple Exostoses
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
|
26690531 |
2015 |
|
Hereditary Multiple Exostoses
|
1.000 |
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 |