FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3136392956> ?p ?o ?g. }

• W3136392956 endingPage "174" @default.
• W3136392956 startingPage "167" @default.
• W3136392956 abstract "The SWItch/Sucrose Non-Fermentable (SWI/SNF) complexes are ubiquitous ATP dependent chromatin remodeling complexes that provide epigenetic regulation of gene expressions across the genome. Different combination of SWI/SNF subunits allow tissue specific regulation of critical cellular processes. The identification of SMARCB1 inactivation in pediatric malignant rhabdoid tumors provided the first example that the SWI/SNF complex may act as a tumor suppressor. It is now estimated at least 20% of all human tumors contain mutations in the subunits of the SWI/SNF complex. This review summarizes the central nervous system tumors with alterations in the SWI/SNF complex genes. Atypical teratoid/rabdoid tumor (AT/RT) is a highly aggressive embryonal tumor genetically characterized by bi-allelic inactivation of SMARCB1, and immunohistochemically shows complete absence of nuclear expression of its protein product INI1. A small subset of AT/RT show retained INI1 expression but defects in another SWI/SNF complex gene SMARCA4. Embryonal tumors with medulloblastoma, pineoblastoma, or primitive neuroectodermal morphology but loss of INI1 expression are now classified as AT/RT. Cribriform neuroepithelial tumor (CRINET) is an intra or para-ventricular tumor that has similar SMARCB1 alterations as AT/RT but generally has a benign clinical course. Besides AT/RT and CRINET, compete loss of nuclear INI1 expression has also been reported in poorly differentiated chordoma and intracranial myxoid sarcoma within the central nervous system. Families with non-truncating SMARCB1 mutations are prone to develop schwannomatosis and a range of developmental syndromes. The schwannomas in these patients usually demonstrate a mosaic INI1 staining pattern suggestive of partial residual protein function. Finally, clear cell meningioma is a WHO grade II variant meningioma characterized by bi-allelic inactivation of the SMARCE1 gene and immunohistochemically show loss of its protein product BAF57 expression in tumor cell nuclei." @default.
• W3136392956 created "2021-03-29" @default.
• W3136392956 creator A5010061661 @default.
• W3136392956 date "2021-05-01" @default.
• W3136392956 modified "2023-10-11" @default.
• W3136392956 title "SWI/SNF deficient central nervous system neoplasms" @default.
• W3136392956 cites W122341946 @default.
• W3136392956 cites W1551953780 @default.
• W3136392956 cites W1863364305 @default.
• W3136392956 cites W1920450187 @default.
• W3136392956 cites W1925799711 @default.
• W3136392956 cites W1964517198 @default.
• W3136392956 cites W1965528633 @default.
• W3136392956 cites W1968608605 @default.
• W3136392956 cites W1974625077 @default.
• W3136392956 cites W1978923120 @default.
• W3136392956 cites W1979855662 @default.
• W3136392956 cites W1982474516 @default.
• W3136392956 cites W1986496248 @default.
• W3136392956 cites W1989254520 @default.
• W3136392956 cites W1994983517 @default.
• W3136392956 cites W1998583950 @default.
• W3136392956 cites W1998738424 @default.
• W3136392956 cites W1999256488 @default.
• W3136392956 cites W1999340868 @default.
• W3136392956 cites W2004473846 @default.
• W3136392956 cites W2005094648 @default.
• W3136392956 cites W2006081564 @default.
• W3136392956 cites W2011437246 @default.
• W3136392956 cites W2019326961 @default.
• W3136392956 cites W2021346554 @default.
• W3136392956 cites W2023625708 @default.
• W3136392956 cites W2031013776 @default.
• W3136392956 cites W2042962536 @default.
• W3136392956 cites W2050088647 @default.
• W3136392956 cites W2059154675 @default.
• W3136392956 cites W2060589423 @default.
• W3136392956 cites W2064423959 @default.
• W3136392956 cites W2069977149 @default.
• W3136392956 cites W2081534093 @default.
• W3136392956 cites W2081830518 @default.
• W3136392956 cites W2081853637 @default.
• W3136392956 cites W2083659537 @default.
• W3136392956 cites W2087385150 @default.
• W3136392956 cites W2095377293 @default.
• W3136392956 cites W2097619129 @default.
• W3136392956 cites W2098118986 @default.
• W3136392956 cites W2101127328 @default.
• W3136392956 cites W2108214510 @default.
• W3136392956 cites W2109018437 @default.
• W3136392956 cites W2118937292 @default.
• W3136392956 cites W2119079421 @default.
• W3136392956 cites W2128103215 @default.
• W3136392956 cites W2129451356 @default.
• W3136392956 cites W2130722975 @default.
• W3136392956 cites W2132244178 @default.
• W3136392956 cites W2133083689 @default.
• W3136392956 cites W2134764519 @default.
• W3136392956 cites W2135035484 @default.
• W3136392956 cites W2148733492 @default.
• W3136392956 cites W2151206030 @default.
• W3136392956 cites W2161967992 @default.
• W3136392956 cites W2176129996 @default.
• W3136392956 cites W2286341552 @default.
• W3136392956 cites W2335159862 @default.
• W3136392956 cites W2413069012 @default.
• W3136392956 cites W2418841499 @default.
• W3136392956 cites W2419991846 @default.
• W3136392956 cites W2429470612 @default.
• W3136392956 cites W2460673340 @default.
• W3136392956 cites W2485991133 @default.
• W3136392956 cites W2557637609 @default.
• W3136392956 cites W2559893189 @default.
• W3136392956 cites W2566164336 @default.
• W3136392956 cites W2588593526 @default.
• W3136392956 cites W2654879294 @default.
• W3136392956 cites W2740510276 @default.
• W3136392956 cites W2791977836 @default.
• W3136392956 cites W2808821435 @default.
• W3136392956 cites W2835430319 @default.
• W3136392956 cites W2900607503 @default.
• W3136392956 cites W2903467937 @default.
• W3136392956 cites W2979518670 @default.
• W3136392956 cites W2986411077 @default.
• W3136392956 cites W2997655299 @default.
• W3136392956 cites W3009065698 @default.
• W3136392956 cites W3016553955 @default.
• W3136392956 cites W3021603445 @default.
• W3136392956 cites W3026944230 @default.
• W3136392956 cites W3093823845 @default.
• W3136392956 cites W3104995003 @default.
• W3136392956 cites W336190273 @default.
• W3136392956 cites W44532678 @default.
• W3136392956 doi "https://doi.org/10.1053/j.semdp.2021.03.003" @default.
• W3136392956 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33762087" @default.
• W3136392956 hasPublicationYear "2021" @default.
• W3136392956 type Work @default.
• W3136392956 sameAs 3136392956 @default.

• next