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Susceptibility weighted imaging (SWI), originally called BOLD venographic imaging, is an MRI sequence that is exquisitely sensitive to venous blood, hemorrhage and iron storage. SWI uses a fully flow compensated, long echo, gradient recalled echo (GRE) pulse sequence to acquire images.
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 is a protein that in humans is encoded by the SMARCD1 gene. [5] [6] [7] [8]The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin ...
The mammalian SWI/SNF (mSWI/SNF) complex functions as a tumor suppressor in many human malignant cancers. [13] Early studies identified that SWI/SNF subunits were frequently absent in cancer cell lines. [14] SWI/SNF was first identified in 1998 as a tumor suppressor in rhabdoid tumors, a rare pediatric malignant cancer. [15]
Gene encoding for ARID1A is the most frequently mutated SWI/SNF subunit across cancers. [9] This gene has been commonly found mutated in different cancers leading to loss of function, including gastric cancers, [10] colon cancer, [11] ovarian clear cell carcinoma, [12] liver cancer, [13] lymphoma [14] and pancreatic cancer. [15]
Multiple alternatively spliced transcript variants have been found for this gene. [7] Mutually exclusive incorporation of the variants into the larger SWI/SNF complex are thought to direct the complex to remodel particular sites in chromatin, leading to alterations in gene activity that dictate cell behavior or differentiation during ...
Since the original observation of SMARCB1 mutations in rhabdoid tumors, several more subunits of the human SWI/SNF chromatin remodeling complex have been found mutated in a wide range of neoplasms. [26] The SWI/SNF ATPase BRG1 (or SMARCA4) is the most frequently mutated chromatin remodeling ATPase in cancer. [27]
There are four subfamilies of chromatin remodelers: SWI/SNF, INO80, ISW1, and CHD. [2] The RSC complex is a 15-subunit chromatin remodeling complex initially found in Saccharomyces cerevisiae, and is homologous to the SWI/SNF complex found in humans. [1] The RSC complex has ATPase activity in the presence of DNA. [1]
57492 239985 Ensembl ENSG00000049618 ENSMUSG00000069729 UniProt Q8NFD5 E9Q4N7 RefSeq (mRNA) NM_017519 NM_001363725 NM_001371656 NM_001374820 NM_001374828 NM_001085355 RefSeq (protein) NP_059989 NP_001350654 NP_001358585 NP_001361749 NP_001361757 NP_001078824 Location (UCSC) Chr 6: 156.78 – 157.21 Mb Chr 17: 5.04 – 5.4 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse AT-rich ...