|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4.
|
30281091 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to epigenetic derepression of D4Z4 repeats on chromosome 4q, leading to ectopic DUX4 expression.
|
30462217 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partial failure of somatic DUX4 repression resulting in the presence of DUX4 protein in sporadic muscle nuclei.
|
29281018 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In FSHD, the combination of inefficient chromatin silencing of the D4Z4 repeat and polymorphisms on the FSHD-permissive alleles that stabilize the DUX4 mRNAs emanating from the repeat result in inappropriate DUX4 protein expression in muscle cells.
|
21288772 |
2011 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Together with the conservation of the DUX4 ORF for >100 million years, this strongly supports a coding function for D4Z4 and necessitates re-examination of current models of the FSHD disease mechanism.
|
17668377 |
2007 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to identify relationships between epigenetic parameters correlating with a relaxed chromatin state of the DUX4 promoter region and clinical severity as measured by a clinical severity score or muscle pathologic changes in D4Z4 contraction-dependent (FSHD1) and -independent (FSHD2) facioscapulohumeral muscular dystrophy patients.
|
22522912 |
2012 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure.
|
19607661 |
2009 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FSHD results from a unique combination of genetic and epigenetic changes on 4q35 leading to release of repression of DUX4, causing disease in a toxic gain-of-function manner.
|
21734574 |
2011 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Most of the recent FSHD studies have been focused on a DUX4 transcript inside D4Z4 and its tandem contraction in FSHD patients.
|
26184877 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
ORPHANET |
|
|
|
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma.
|
19837262 |
2009 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function.
|
31506080 |
2019 |
|
Facioscapulohumeral muscular dystrophy 1a
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
The genetic cause of FSHD1 is contraction of the D4Z4 macrosatellite array on chromosome 4 alleles associated with a permissive haplotype causing infrequent sporadic expression of the DUX4 gene.
|
30122154 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The involvement of the DUX4 region might represent the genetic hallmark of a novel subclass of small round cell tumors.
|
19837262 |
2009 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CIC-DUX4 gene fusion, resulting from either a t(4;19) or t(10;19) translocation, is the most common genetic abnormality detected in EWSR1-negative small blue round cell tumors.
|
28346326 |
2017 |
|
Ewings sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this review we discuss the main categories of undifferentiated round cell sarcoma, in relation to Ewing sarcoma and its molecular variants, with particular emphasis on the genetic and biologic features of recently described entities including desmoplastic small round cell tumor and CIC-DUX4 as well as BCOR-CCNB3-associated round cell sarcomas.
|
24801613 |
2014 |
|
Ewings sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the distinct gene signature and immunoprofile of CIC-DUX4 sarcomas suggest a distinct pathogenesis from ES.
|
24723486 |
2014 |
|
Ewings sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Follow-up available in 22 patients showed a 5-year overall survival of 72%, which was relatively similar to ES (79%, P=0.738) and significantly better than CIC-DUX4 sarcomas (43%, P=0.005) control groups.
|
29300189 |
2018 |
|
Sarcoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The diagnosis of sarcoma with CIC-DUX4 gene fusion is difficult in lack of specific pathological characteristics emphasizing the need for molecular analysis.
|
28466754 |
2019 |
|
Sarcoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Follow-up available in 22 patients showed a 5-year overall survival of 72%, which was relatively similar to ES (79%, P=0.738) and significantly better than CIC-DUX4 sarcomas (43%, P=0.005) control groups.
|
29300189 |
2018 |
|
Sarcoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas.
|
26135561 |
2015 |
|
Sarcoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In summary, next-generation sequencing identified limited somatic driver mutations in CIC-DUX4 sarcomas.
|
27664537 |
2016 |
|
Sarcoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CIC break-apart fluorescence in-situ hybridization misses a subset of CIC-DUX4 sarcomas: a clinicopathological and molecular study.
|
28493604 |
2017 |
|
Sarcoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In conclusion, the distinct gene signature and immunoprofile of CIC-DUX4 sarcomas suggest a distinct pathogenesis from ES.
|
24723486 |
2014 |
|
Malignant neoplasm of soft tissue
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CIC break-apart fluorescence in-situ hybridization misses a subset of CIC-DUX4 sarcomas: a clinicopathological and molecular study.
|
28493604 |
2017 |