1 | MYC, SMARCB1
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| Inhibition of MYC by the SMARCB1 tumor suppressor.
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| Weissmiller AM, Wang J, Lorey SL, Howard GC, Martinez E, Liu Q, Tansey WP.
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| Nat Commun 10(1):2014. doi: 10.1038/s41467-019-10022-5.
2019
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2 | SMARCB1
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| Tumor suppressor SMARCB1 suppresses super-enhancers to govern hESC lineage determination.
|
| Langer LF, Ward JM, Archer TK.
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| Elife 8. pii: e45672. doi: 10.7554/eLife.45672. [Epub ahead of print]
2019
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3 | SMARCB1
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| SNF5 as a prognostic factor in skull base chordoma.
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| Li M, Zhai Y, Bai J, Wang S, Gao H, Li C, Gui S, Du J, Zhang Y.
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| J Neurooncol 137(1):139-146. doi: 10.1007/s11060-017-2706-3. Epub 2017 Dec 8.
2018
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4 | BICRA, BICRAL, BRD4, BRD9, SMARCB1
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| A non-canonical BRD9-containing BAF chromatin remodeling complex regulates naive pluripotency in mouse embryonic stem cells
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| Gatchalian J, Malik S, Ho J, Lee DS, Kelso TWR, Shokhirev MN, Dixon JR, Hargreaves DC.
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| Nat Commun. Dec 3;9(1):5139. doi: 10.1038/s41467-018-07528-9. 2018
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5 | GADD45GIP1, SMARCB1
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| CRIF1 enhances p53 activity via the chromatin remodeler SNF5 in the HCT116 colon cancer cell lines.
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| Yan HX, Zhang YJ, Zhang Y, Ren X, Shen YF, Cheng MB, Zhang Y.
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| Biochim Biophys Acta 1860(4):516-522. doi: 10.1016/j.bbagrm.2017.02.006. Epub 2017 Feb 21.
2017
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6 | SMARCB1, SMARCD1, SMARCE1
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| Cellular senescence regulated by SWI/SNF complex subunits through p53/p21 and p16/pRB pathway.
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| He L, Chen Y, Feng J, Sun W, Li S, Ou M, Tang L.
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| Int J Biochem Cell Biol 90:29-37. doi: 10.1016/j.biocel.2017.07.007. Epub 2017 Jul 15.
2017
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7 | SMARCB1
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| Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development.
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| Vitte J, Gao F, Coppola G, Judkins AR, Giovannini M.
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| Nat Commun 8(1):300. doi: 10.1038/s41467-017-00346-5.
2017
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8 | SMARCB1, SMARCC1
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| Structural Insights into BAF47 and BAF155 Complex Formation.
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| Yan L, Xie S, Du Y, Qian C.
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| J Mol Biol 429(11):1650-1660. doi: 10.1016/j.jmb.2017.04.008. Epub 2017 Apr 21.
2017
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9 | SMARCB1
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| SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation.
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| Wang X, Lee RS, Alver BH, Haswell JR, Wang S, Mieczkowski J, Drier Y, Gillespie SM, Archer TC, Wu JN, Tzvetkov EP, Troisi EC, Pomeroy SL, Biegel JA, Tolstorukov MY, Bernstein BE, Park PJ, Roberts CW.
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| Nat Genet 49(2):289-295. doi: 10.1038/ng.3746. Epub 2016 Dec 12.
2017
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10 | MYC, SMARCB1
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| MYC interaction with the tumor suppressive SWI/SNF complex member INI1 regulates transcription and cellular transformation.
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| Stojanova A, Tu WB, Ponzielli R, Kotlyar M, Chan PK, Boutros PC, Khosravi F, Jurisica I, Raught B, Penn LZ.
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| Cell Cycle 15(13):1693-705. doi: 10.1080/15384101.2016.1146836. Epub 2016 Jun 7.
2016
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11 | SMARCB1
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| Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.
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| Wu J, Kong M, Bi Q.
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| J Neurooncol 125(2):439-41. doi: 10.1007/s11060-015-1918-7. Epub 2015 Sep 5. No abstract available.
2015
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12 | ARID1A, CSSA1A, CSSSB1, CSSSCA2, CSSSCA4, CSSSCE1, SMARCA4, SMARCB1, SMARCE1
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| Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
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| Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.
|
| Am J Med Genet C Semin Med Genet m J Med Genet C Semin Med Genet. 2014 Aug 28. doi: 10.1002/ajmg.c.31407. [Epub ahead of print]
2014
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13 | SMARCB1
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| SNF5/INI1 deficiency redefines chromatin remodeling complex composition during tumor development.
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| Wei D, Goldfarb D, Song S, Cannon C, Yan F, Sakellariou-Thompson D, Emanuele M, Major MB, Weissman BE, Kuwahara Y.
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| Mol Cancer Res 12(11):1574-85. doi: 10.1158/1541-7786.MCR-14-0005. Epub 2014 Jul 9.
2014
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14 | SMARCB1
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| SNF5/INI1 deficiency redefines chromatin remodeling complex composition during tumor development.
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| Wei D, Goldfarb D, Song S, Cannon C, Yan F, Sakellariou-Thompson D, Emanuele M, Major MB, Weissman BE, Kuwahara Y.
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| Mol Cancer Res 12(11):1574-85. doi: 10.1158/1541-7786.MCR-14-0005. Epub 2014 Jul 9. 2014
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15 | SMARCB1
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| The SWI/SNF subunit/tumor suppressor BAF47/INI1 is essential in cell cycle arrest upon skeletal muscle terminal differentiation.
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| Joliot V, Ait-Mohamed O, Battisti V, Pontis J, Philipot O, Robin P, Ito H, Ait-Si-Ali S.
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| PLoS One 9(10):e108858. doi: 10.1371/journal.pone.0108858. eCollection 2014.
2014
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16 | SMARCB1
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| A unique pattern of INI1 immunohistochemistry distinguishes synovial sarcoma from its histologic mimics.
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| Arnold MA, Arnold CA, Li G, Chae U, El-Etriby R, Lee CC, Tsokos M.
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| Hum Pathol 44(5):881-7. doi: 10.1016/j.humpath.2012.08.014. Epub 2012 Dec 13.
2013
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17 | SMARCB1, SNRPD3
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| Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.
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| Ribeiro-Bicudo LA, de Campos Legnaro C, Gamba BF, Candido Sandri RM, Richieri-Costa A.
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| Mol Syndromol. Sep;4(6):292-6. doi: 10.1159/000354095. Epub 2013 Aug 17. 2013
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18 | ARID1A, ARID1B, CSS, CSSSA1A, CSSSA1B, CSSSB1, CSSSCA2, CSSSCA4, CSSSCE1, SMARCA2, SMARCA4, SMARCB1, SMARCE1
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| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
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| Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N.
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| Nat Genet at Genet. 2012 Mar 18. doi: 10.1038/ng.2219. [Epub ahead of print] 2012
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19 | DEL9Q34, EHMT1, KMT2C, MBD5, NR1I3, SMARCB1
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| Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability.
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| Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.
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| Am J Hum Genet 91(1):73-82. Epub 2012 Jun 21. 2012
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20 | MRBDT, SMARCB1
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| SMARCB1 Deficiency in Tumors From the Peripheral Nervous System: A Link Between Schwannomas and Rhabdoid Tumors?
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| Rizzo D, Fréneaux P, Brisse H, Louvrier C, Lequin D, Nicolas A, Ranchère D, Verkarre V, Jouvet A, Dufour C, Edan C, Stéphan JL, Orbach D, Sarnacki S, Pierron G, Parfait B, Peuchmaur M, Delattre O, Bourdeaut F.
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| Am J Surg Pathol 36(7):964-972.
2012
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21 | CHFR, SMARCA4, SMARCB1, SMARCC1, SMARCD1
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| SRG3/mBAF155 stabilizes the SWI/SNF-like BAF complex by blocking CHFR mediated ubiquitination and degradation of its major components.
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| Jung I, Sohn DH, Choi J, Kim JM, Jeon S, Seol JH, Seong RH.
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| Biochem Biophys Res Commun 418(3):512-7. doi: 10.1016/j.bbrc.2012.01.057. Epub 2012 Jan 20.
2012
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22 | NF2, SMARCB1
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| Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.
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| Christiaans I, Kenter SB, Brink HC, van Os TA, Baas F, van den Munckhof P, Kidd AM, Hulsebos TJ.
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| J Med Genet 48(2):93-7. Epub 2010 Oct 7.
2011
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23 | SMARCB1
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| Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.
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| Toth G, Zraly CB, Thomson TL, Jones C, Lapetino S, Muraskas J, Zhang J, Dingwall AK.
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| Genes Chromosomes Cancer 50(6):379-88. doi: 10.1002/gcc.20862. Epub 2011 Mar 15.
2011
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24 | AURKA, SMARCB1
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| Aurora A is a repressed effector target of the chromatin remodeling protein INI1/hSNF5 required for rhabdoid tumor cell survival.
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| Lee S, Cimica V, Ramachandra N, Zagzag D, Kalpana GV.
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| Cancer Res 71(9):3225-35. Epub 2011 Apr 26.
2011
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25 | RB1CC1, SMARCB1
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| RB1CC1 activates the p16 promoter through the interaction with hSNF5.
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| Ochi Y, Chano T, Ikebuchi K, Inoue H, Isono T, Arai A, Tameno H, Shimada T, Hisa Y, Okabe H.
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| Oncol Rep 26(4):805-12. doi: 10.3892/or.2011.1329. Epub 2011 May 27.
2011
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26 | SMARCB1
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| SNF5, a core component of the SWI/SNF complex, is necessary for p53 expression and cell survival, in part through eIF4E.
|
| Xu Y, Yan W, Chen X.
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| Oncogene 29(28):4090-100. Epub 2010 May 17.PMID: 20473326 2010
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27 | GLI1, SMARCB1
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| Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway.
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| Jagani Z, Mora-Blanco EL, Sansam CG, McKenna ES, Wilson B, Chen D, Klekota J, Tamayo P, Nguyen PT, Tolstorukov M, Park PJ, Cho YJ, Hsiao K, Buonamici S, Pomeroy SL, Mesirov JP, Ruffner H, Bouwmeester T, Luchansky SJ, Murtie J, Kelleher JF, Warmuth M, Sellers WR, Roberts CW, Dorsch M.
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| Nat Med 16(12):1429-33. Epub 2010 Nov 14.
2010
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28 | MRBDT, SCWT, SMARCB1
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| Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.
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| Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams MS.
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| J Med Genet 46(1):68-72.
2009
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29 | DEL22Q11D, HFM, SMARCB1
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| Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor.
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| Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP.
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| Am J Med Genet A 149A(12):2855-9. 2009
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30 | H2AFX, SMARCB1
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| Human SNF5/INI1, a component of the human SWI/SNF chromatin remodeling complex, promotes nucleotide excision repair by influencing ATM recruitment and downstream H2AX phosphorylation.
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| Ray A, Mir SN, Wani G, Zhao Q, Battu A, Zhu Q, Wang QE, Wani AA.
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| Mol Cell Biol 29(23):6206-19. Epub 2009 Oct 5.PMID: 19805520 2009
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31 | SMARCA4, SMARCB1, SMARCC1, SMARCE1
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| Smarcc1/Baf155 couples self-renewal gene repression with changes in chromatin structure in mouse embryonic stem cells.
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| Schaniel C, Ang YS, Ratnakumar K, Cormier C, James T, Bernstein E, Lemischka IR, Paddison PJ.
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| Stem Cells 27(12):2979-91.PMID: 19785031 2009
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32 | SAP18, SMARCB1
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| Recruitment of a SAP18-HDAC1 complex into HIV-1 virions and its requirement for viral replication.
|
| Sorin M, Cano J, Das S, Mathew S, Wu X, Davies KP, Shi X, Cheng SW, Ott D, Kalpana GV.
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| PLoS Pathog 5(6):e1000463. doi: 10.1371/journal.ppat.1000463. Epub 2009 Jun 5.
2009
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33 | IGFBP7, BNIP3L, SMARCB1
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| Oncogenic BRAF induces senescence and apoptosis through pathways mediated by the secreted protein IGFBP7.
|
| Wajapeyee N, Serra RW, Zhu X, Mahalingam M, Green MR.
|
| Cell 132(3):363-74. 2008
|
34 | SMARCB1, NF2
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| Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.
|
| Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG.
|
| J Med Genet 45(6):332-9. Epub 2008 Feb 19. 2008
|
35 | SMARCB1
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| Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR.
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| Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.
|
| Clin Genet 74(4):358-66. Epub 2008 Jul 21.
2008
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36 | SMARCB1
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| Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.
|
| Patil S, Perry A, Maccollin M, Dong S, Betensky RA, Yeh TH, Gutmann DH, Stemmer-Rachamimov AO.
|
| Brain Pathol 18(4):517-9. Epub 2008 Apr 15.
2008
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37 | SMARCB1, SCWT
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| Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis.
|
| Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P.
|
| Am J Hum Genet 80(4):805-10. Epub 2007 Feb 16. 2007
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38 | SMARCB1
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| High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.
|
| Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA.
|
| Hum Genet 122(2):117-27. Epub 2007 May 31. 2007
|
39 | SMARCB1
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| Inhibition of early steps of HIV-1 replication by SNF5/Ini1.
|
| Maroun M, Delelis O, Coadou G, Bader T, Segeral E, Mbemba G, Petit C, Sonigo P, Rain JC, Mouscadet JF, Benarous R, Emiliani S.
|
| J Biol Chem 281(32):22736-43. Epub 2006 Jun 13. 2006
|
40 | SMARCB1
|
| Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation.
|
| Isakoff MS, Sansam CG, Tamayo P, Subramanian A, Evans JA, Fillmore CM, Wang X, Biegel JA, Pomeroy SL, Mesirov JP, Roberts CW.
|
| Proc Natl Acad Sci U S A 102(49):17745-50. Epub 2005 Nov 21. 2005
|
41 | PBRM1, ARID2, SMARCB1, SMARCA4
|
| PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.
|
| Yan Z, Cui K, Murray DM, Ling C, Xue Y, Gerstein A, Parsons R, Zhao K, Wang W.
|
| Genes Dev 19(14):1662-7. Epub 2005 Jun 28. 2005
|
42 | SMARCB1
|
| SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas.
|
| Modena P, Lualdi E, Facchinetti F, Galli L, Teixeira MR, Pilotti S, Sozzi G.
|
| Cancer Res 65(10):4012-9. 2005
|
43 | SMARCB1
|
| Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor.
|
| Kusafuka T, Miao J, Yoneda A, Kuroda S, Fukuzawa M.
|
| Genes Chromosomes Cancer 40(2):133-9. 2004
|
44 | SMARCB1
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| Loss of the INI1 tumor suppressor does not impair the expression of multiple BRG1-dependent genes or the assembly of SWI/SNF enzymes.
|
| Doan DN, Veal TM, Yan Z, Wang W, Jones SN, Imbalzano AN.
|
| Oncogene 23(19):3462-73. 2004
|
45 | SMARCB1, PPP1R15A, BAG1
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| Human BAG-1 proteins bind to the cellular stress response protein GADD34 and interfere with GADD34 functions.
|
| Hung WJ, Roberson RS, Taft J, Wu DY.
|
| Mol Cell Biol 23(10):3477-86. 2003
|
46 | SMARCB1
|
| The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors.
|
| Biegel JA, Kalpana G, Knudsen ES, Packer RJ, Roberts CW, Thiele CJ, Weissman B, Smith M.
|
| Cancer Res 62(1):323-8. 2002
|
47 | SMARCB1
|
| Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors.
|
| Uno K, Takita J, Yokomori K, Tanaka Y, Ohta S, Shimada H, Gilles FH, Sugita K, Abe S, Sako M, Hashizume K, Hayashi Y.
|
| Genes Chromosomes Cancer 34(1):33-41. 2002
|
48 | SMARCB1
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| INI1 mutations in meningiomas at a potential hotspot in exon 9.
|
| Schmitz U, Mueller W, Weber M, Sevenet N, Delattre O, von Deimling A.
|
| Br J Cancer 84(2):199-201. 2001
|
49 | SMARCB1
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| Mutational analysis of INI1 in sporadic human brain tumors.
|
| Weber M, Stockhammer F, Schmitz U, von Deimling A.
|
| Acta Neuropathol (Berl) 101(5):479-82. 2001
|
50 | SMARCB1
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| Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor.
|
| Biegel JA, Fogelgren B, Wainwright LM, Zhou JY, Bevan H, Rorke LB.
|
| Genes Chromosomes Cancer 28(1):31-7. 2000
|
51 | SMARCB1
|
| Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.
|
| Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT.
|
| Am J Hum Genet 66(4):1403-6. 2000
|
52 | SMARCB1
|
| HSNF5/INI1 gene mutations in lymphoid malignancy.
|
| Yuge M, Nagai H, Uchida T, Murate T, Hayashi Y, Hotta T, Saito H, Kinoshita T.
|
| Cancer Genet Cytogenet 122(1):37-42. 2000
|
53 | SMARCB1
|
| hSNF5/INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors.
|
| Rousseau-Merck MF, et al.
|
| Cancer Res 59(13):3152-6 1999
|
54 | MRBDT, SMARCB1, TSG22D
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| Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers.
|
| Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O.
|
| Am J Hum Genet 65(5):1342-1348 1999
|
55 | MRBDT, SMARCB1
|
| Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.
|
| Sevenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O.
|
| Hum Mol Genet 8(13):2359-68 1999
|
56 | SMARCB1
|
| Frequent deletion of hSNF5/INI1, a component of the SWI/SNF complex, in chronic myeloid leukemia.
|
| Grand F, Kulkarni S, Chase A, Goldman JM, Gordon M, Cross NC.
|
| Cancer Res 59(16):3870-4 1999
|
57 | SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2
|
| Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits.
|
| Phelan ML, Sif S, Narlikar GJ, Kingston RE.
|
| Mol Cell 3(2):247-53. 1999
|
58 | SMARCB1
|
| Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.
|
| Versteege I, et al.
|
| Nature 394 : 203-206. 1998
|
59 | KLF1, SMARCB1, SMARCC1, SMARCC2
|
| A SWI/SNF-related chromatin remodeling complex, E-RC1, is required for tissue-specific transcriptional regulation by EKLF in vitro.
|
| Armstrong JA, Bieker JJ, Emerson BM.
|
| Cell 95(1):93-104. 1998
|
60 | SMARCB1, SMARCE1
|
| Purification and biochemical heterogeneity of the mammalian SWI-SNF complex.
|
| Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, KalpanaGV, Goff SP, Yaniv M, Workman JL, Crabtree GR.
|
| EMBO J 15(19):5370-82. 1996
|
61 | SMARCB1
|
| A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm.
|
| Muchardt C, Sardet C, Bourachot B, Onufryk C, Yaniv M.
|
| Nucleic Acids Res 23 : 1127-1132. 1995
|
62 | SMARCB1
|
| Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5.
|
| Kalpana GV, et al.
|
| Science 266 : 2002-2006. 1994
|