|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Mutations in a number of different genes encoding SWI/SNF chromatin remodelling complex proteins have been described but the underlying molecular cause remains unknown in approximately 40% of patients with CSS.
|
29698805 |
2019 |
|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in genes encoding subunits of the SWI/SNF complex have been reported in individuals with Coffin-Siris syndrome (CSS), with the majority of the mutations in ARID1B.
|
31658463 |
2019 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
BEFREE |
Beyond neoplasms, several congenital developmental functional disorders such as Coffin-Siris syndrome and intellectual disability are now known to be SWI/SNF-related.
|
29397238 |
2018 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
BEFREE |
Mutations in the BAF complex (mammalian SWI/SNF complex) are responsible for Coffin-Siris syndrome, which is characterized by developmental delay, distinctive facial features, hirsutism, and hypoplasia/aplasia of the fifth finger/fingernails.
|
27511161 |
2016 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
CLINGEN |
Identification of novel genetic causes of Rett syndrome-like phenotypes.
|
26740508 |
2016 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of novel genetic causes of Rett syndrome-like phenotypes.
|
26740508 |
2016 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of novel genetic causes of Rett syndrome-like phenotypes.
|
26740508 |
2016 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
CLINGEN |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
|
26539891 |
2015 |
|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex.
|
24700502 |
2014 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
BEFREE |
Our data further support that CSS is a SWI/SNF complex disorder.
|
23815551 |
2014 |
|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS.
|
22426308 |
2012 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
CTD_human |
The long tail of oncogenic drivers in prostate cancer.
|
29610475 |
2018 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
Linking the SWI/SNF complex to prostate cancer.
|
24165726 |
2013 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
The long noncoding RNA SChLAP1 promotes aggressive prostate cancer and antagonizes the SWI/SNF complex.
|
24076601 |
2013 |
|
Malignant neoplasm of prostate
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
Although selected SWI/SNF subunit expression is reduced in prostate cancer, we show that BAF57 is retained in human disease and is elevated in a subset of tumors.
|
18559499 |
2008 |
|
Malignant neoplasm of prostate
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
We analyzed a published cDNA microarray data set of prostate cancers for the expression of SWI/SNF genes, and then we evaluated the expression levels of BRG1 and BRM proteins with a semi-quantitative immunohistochemistry (IHC) approach in a pairwise manner of malignant versus benign tissues from individual prostate cancers.
|
17075831 |
2007 |
|
Prostatic Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
The long tail of oncogenic drivers in prostate cancer.
|
29610475 |
2018 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Kinetic studies using physiologically relevant heterotypic nucleosomal substrates ('Janus' nucleosomes) indicate that these cancer-associated mutations can disrupt regularly spaced chromatin structure by inducing ISWI-mediated unidirectional nucleosome sliding.
|
31819269 |
2020 |
|
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Kinetic studies using physiologically relevant heterotypic nucleosomal substrates ('Janus' nucleosomes) indicate that these cancer-associated mutations can disrupt regularly spaced chromatin structure by inducing ISWI-mediated unidirectional nucleosome sliding.
|
31819269 |
2020 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Several subunits of the SWI/SNF chromatin remodeling complex are implicated in both cancer and neurodevelopmental disorders (NDD).
|
31077186 |
2019 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The SWI/SNF complex is a multimeric chromatin remodeling complex that has vital roles in regulating gene expression and cancer development.
|
30447346 |
2019 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we review the roles of the SWI/SNF (switch/sucrose nonfermenting) and NuRD (nucleosome remodeling and deacetylase) and the Polycomb system in chromatin regulation and cancer.
|
31123059 |
2019 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
AT-rich interaction domain 1A gene (ARID1A) encodes for a subunit of the switch/sucrose non-fermentable (SWI/SNF) complex, a chromatin remodeling complex, and it has been implicated in the pathogenesis of various cancer types.
|
31028182 |
2019 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Specifically, the biallelic inactivation of the SWI/SNF subunit SMARCB1 results in the emergence of extremely aggressive pediatric malignancies.
|
30753823 |
2019 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
SWI/SNF: Complex complexes in genome stability and cancer.
|
30897376 |
2019 |