|
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
|
26539891 |
2015 |
|
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 |
Biomarker
|
disease |
CTD_human |
The long tail of oncogenic drivers in prostate cancer.
|
29610475 |
2018 |
|
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 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alterations in this gene, or the related SWI/SNF chromatin remodeling gene SMARCB1, have been previously reported in atypical teratoid/rhabdoid tumors (ATRTs) and malignant rhabdoid tumors (MRTs).
|
26646792 |
2016 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
The SMARCB1/INI1 gene encodes for an invariant subunit of SWI/SNF chromatin remodeling complex and has been previously reported to act as a tumor suppressor gene frequently inactivated in infantile malignant rhabdoid tumors.
|
15899790 |
2005 |
|
Rhabdoid Tumor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This deleted region is close to hSNF5/INI1 (SMARCB1), a gene that encodes a widely expressed component of the SWI/SNF chromatin remodeling complex and that suffers biallelic mutations in malignant rhabdoid tumors.
|
10463572 |
1999 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
INI1/hSNF5 is a component of the chromatin remodeling SWI/SNF complex and a tumor suppressor deleted in RT.
|
21521802 |
2011 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
The hSNF5 subunit of human SWI/SNF ATP-dependent chromatin remodeling complexes is a tumor suppressor that is inactivated in malignant rhabdoid tumors (MRTs).
|
15769941 |
2005 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
Truncating mutations and homozygous deletions in the hSNF5/INI1/BAF47 subunit of human SWI/SNF complexes occur in most malignant rhabdoid tumors and some other malignancies.
|
12149641 |
2002 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
Abnormalities of SMARCB1 (INI1), which encodes a member of the SWI/SNF pathway, are found in neoplasms with rhabdoid morphology, such as malignant rhabdoid tumour of the kidney and atypical teratoid/rhabdoid tumour of the central nervous system.
|
27656868 |
2017 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data establish that SNF5 loss during MRT development alters the repertoire of available SWI/SNF complexes, generally disrupting those associated with cellular differentiation.
|
25009291 |
2014 |
|
Rhabdoid Tumor
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mechanistically, we show that SMARCB1 loss causes increased BRD9 incorporation into SWI/SNF thus providing insight into BRD9 vulnerability in RTs.
|
31015438 |
2019 |