|
Hereditary Multiple Exostoses
|
0.700 |
GeneticVariation
|
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
The existence of the mosaic deletion was subsequently confirmed clinically by an increased density copy number array and orthogonal methodologies CONCLUSIONS: While mosaic mutations and deletions of EXT1 and EXT2 have been reported in the context of multiple osteochondromas, to our knowledge, this is the first time that transcriptomics technologies have been used to diagnose a patient via fusion transcript analysis in the congenital disease setting.
|
30632316 |
2019 |
|
Hereditary Multiple Exostoses
|
0.700 |
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
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR) revealed that the expression levels of wild‑type EXT1/EXT2 mRNA in patients with HME were significantly decreased, compared with normal control participants (P<0.05).
|
30664192 |
2019 |
|
Hereditary Multiple Exostoses
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MO is a very rare genetic disorder, and the genotype-phenotype of MO with EXT2 mutation has not been well investigated in Korea.
|
30730578 |
2019 |
|
Hereditary Multiple Exostoses
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Screening and identifying the gene mutation of EXT1, EXT2 and EXT3 associated with multiple exostosis (ME) and the expression in tumor tissues.
|
30262140 |
2018 |
|
Hereditary Multiple Exostoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder linked to germline heterozygous loss-of-function mutations in EXT1 or EXT2 that encode Golgi-resident glycosyltransferases responsible for HS synthesis, resulting in a systemic HS deficiency.
|
29277722 |
2018 |
|
Hereditary Multiple Exostoses
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in either of the exostosin genes EXT1 and EXT2 lead to osteosarcomas or multiple exostoses.
|
28068429 |
2017 |
|
Hereditary Multiple Exostoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, our paper provides the primary data of the application of t-NGS in MO molecular diagnosis, including six newly identified mutations (EXT1: c.1843_1846dup, c.1088G>A, c.351C>G, and c.2120C>T and EXT2: c.744-1G>T and c.575T>A), which further enrich the mutation database of MO from the Chinese population.
|
28690282 |
2017 |
|
Hereditary Multiple Exostoses
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The findings are useful for expanding the database of known EXT2 mutations and understanding the genetic basis of MO in Chinese patients, which may improve genetic counseling and the prenatal diagnosis of MO.
|
28849184 |
2017 |
|
Hereditary Multiple Exostoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Additionally, we identified 22 novel EXT1 and EXT2 mutations in this Japanese MO cohort.
|
26961984 |
2016 |
|
Hereditary Multiple Exostoses
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation of EXT2 identified in a large family with multiple osteochondromas.
|
27748933 |
2016 |
|
Hereditary Multiple Exostoses
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
EXT1 and EXT2 are the two genes known to harbor heterozygous loss-of-function mutations that account for the vast majority of the primary genetic component of HME.
|
25498973 |
2015 |
|
Hereditary Multiple Exostoses
|
0.700 |
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 |
|
Hereditary Multiple Exostoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
EXT1 located on chromosome 8q23-q24 and EXT2 located on 11p11-p12 are the main disease-causing genes which are responsible for ~90% of HME cases.
|
24297320 |
2014 |
|
Hereditary Multiple Exostoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous transition (c.743+1G>A) in the EXT2 gene, which co-segregated with the HME phenotype in this family, was identified.
|
24728384 |
2014 |
|
Hereditary Multiple Exostoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study we investigated 33 unrelated Polish probands with the clinical and radiological diagnosis of HME by means of Sanger sequencing and MLPA for all coding exons of EXT1 and EXT2.
|
24532482 |
2014 |
|
Hereditary Multiple Exostoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Flow-mediated dilation, a marker of nitric oxide bioavailability, was studied in Ext1(+/-) and Ext2(+/-) mice versus controls (n=7 per group), as well as in human subjects with heterozygous loss of function mutations in EXT1 and EXT2 (n=13 hereditary multiple exostoses and n=13 controls).
|
25468659 |
2014 |
|
Hereditary Multiple Exostoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
We hypothesized that loss of function of EXT1 or EXT2 in subjects with hereditary multiple exostoses (HME) affects pancreatic insulin secretion capacity and development.
|
25541963 |
2014 |