| A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice. | A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Brugmans AK, Walter C, Moreno N, Göbel C, Holdhof D, de Faria FW, Hotfilder M, Jeising D, Frühwald MC, Skryabin BV, Rozhdestvensky TS, Wachsmuth L, Faber C, Dugas M, Varghese J, Schüller U, Albert TK, Kerl K., Free PMC Article | 09/8/2023 |
| SMARCB1 regulates the hypoxic stress response in sickle cell trait. | SMARCB1 regulates the hypoxic stress response in sickle cell trait.
Soeung M, Perelli L, Chen Z, Dondossola E, Ho IL, Carbone F, Zhang L, Khan H, Le CN, Zhu C, Peoples MD, Feng N, Jiang S, Zacharias NM, Minelli R, Shapiro DD, Deem AK, Gao S, Cheng EH, Lucchetti D, Walker CL, Carugo A, Giuliani V, Heffernan TP, Viale A, Tannir NM, Draetta GF, Msaouel P, Genovese G., Free PMC Article | 05/25/2023 |
| Data suggest that SWI-SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 protein (SMARCB1)-mediated remodeling of chromatin landscapes is important for the maintenance and differentiation of embryonic stem cells (ESCs). | Smarcb1 maintains the cellular identity and the chromatin landscapes of mouse embryonic stem cells.
Sakakura M, Ohta S, Yagi M, Tanaka A, Norihide J, Woltjen K, Yamamoto T, Yamada Y. | 06/27/2020 |
| SMARCB1-deficient rhabdoid tumors exhibit dramatic activation of the unfolded protein response and endoplasmic reticulum stress response via a genetically intact MYC-p19(ARF)-p53 axis. | p53 Is a Master Regulator of Proteostasis in SMARCB1-Deficient Malignant Rhabdoid Tumors.
Carugo A, Minelli R, Sapio L, Soeung M, Carbone F, Robinson FS, Tepper J, Chen Z, Lovisa S, Svelto M, Amin S, Srinivasan S, Del Poggetto E, Loponte S, Puca F, Dey P, Malouf GG, Su X, Li L, Lopez-Terrada D, Rakheja D, Lazar AJ, Netto GJ, Rao P, Sgambato A, Maitra A, Tripathi DN, Walker CL, Karam JA, Heffernan TP, Viale A, Roberts CWM, Msaouel P, Tannir NM, Draetta GF, Genovese G., Free PMC Article | 12/7/2019 |
| Analyses of the Smarcb1 mutant mice indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Study results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF (BRG1/BRM-associated factor) complex-related intellectual disability/neurodevelopmental disorders. | Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Filatova A, Rey LK, Lechler MB, Schaper J, Hempel M, Posmyk R, Szczaluba K, Santen GWE, Wieczorek D, Nuber UA., Free PMC Article | 10/26/2019 |
| Data show that early Smarcb1 loss causes rhabdoid tumors whereas loss at later stages combined with Nf2 gene inactivation causes shwannomas. | Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development.
Vitte J, Gao F, Coppola G, Judkins AR, Giovannini M., Free PMC Article | 12/9/2017 |
| The occurrence of intracranial rhabdoid tumours depends on control of Smarcb1 inactivation. | The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation.
Han ZY, Richer W, Fréneaux P, Chauvin C, Lucchesi C, Guillemot D, Grison C, Lequin D, Pierron G, Masliah-Planchon J, Nicolas A, Ranchère-Vince D, Varlet P, Puget S, Janoueix-Lerosey I, Ayrault O, Surdez D, Delattre O, Bourdeaut F., Free PMC Article | 06/11/2016 |
| These results support recent findings regarding the effectivity of EGFR inhibitors in hindering the proliferation of human MRT cells and demonstrate that activation of EGFR signaling in Rhabdoid tumors is SMARCB1 dependent. | Phosphoproteomic analysis reveals Smarcb1 dependent EGFR signaling in Malignant Rhabdoid tumor cells.
Darr J, Klochendler A, Isaac S, Geiger T, Eden A., Free PMC Article | 05/21/2016 |
| these findings uncover a novel role for Snf5 in oligodendrocyte generation and survival, and they offer evidence of the first genetically engineered mouse model for AT/RT in the CNS. | Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53.
Ng JM, Martinez D, Marsh ED, Zhang Z, Rappaport E, Santi M, Curran T., Free PMC Article | 02/27/2016 |
| This study show here that loss of Smarcb1 and Smarca4 leads to severe proliferation deficits of granule neuron precursors and a hypoplastic cerebellum. | Loss of Smarc proteins impairs cerebellar development.
Moreno N, Schmidt C, Ahlfeld J, Pöschl J, Dittmar S, Pfister SM, Kool M, Kerl K, Schüller U., Free PMC Article | 01/24/2015 |
| results show that Smarcb1 is required for transcriptional activation of Igfbp7 and show that re-introduction of Igfbp7 alone can hinder tumor development; results define a novel mechanism for Smarcb1-mediated tumorigenesis | Loss of IGFBP7 expression and persistent AKT activation contribute to SMARCB1/Snf5-mediated tumorigenesis.
Darr J, Klochendler A, Isaac S, Eden A. | 07/26/2014 |
| We find that inactivation of either Brg1 or Smarcb1 leads to disruptions of specific nucleosome patterning combined with a loss of overall nucleosome occupancy at a large number of promoters, regardless of their association with CpG islands. | Swi/Snf chromatin remodeling/tumor suppressor complex establishes nucleosome occupancy at target promoters.
Tolstorukov MY, Sansam CG, Lu P, Koellhoffer EC, Helming KC, Alver BH, Tillman EJ, Evans JA, Wilson BG, Park PJ, Roberts CW., Free PMC Article | 09/7/2013 |
| SNF5 is a key mediator of Hedgehog signaling and that aberrant activation of GLI1 is a previously undescribed targetable mechanism contributing to the growth of malignant rhabdoid tumor cells. | Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway.
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., Free PMC Article | 01/29/2011 |
| Loss of the SNF5 tumor suppressor leads to elevated expression of the Polycomb gene EZH2. | Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation.
Wilson BG, Wang X, Shen X, McKenna ES, Lemieux ME, Cho YJ, Koellhoffer EC, Pomeroy SL, Orkin SH, Roberts CW., Free PMC Article | 11/6/2010 |
| SNF5 knockdown inhibits p53 translation by eIF4E and replacement of eIF4E in SNF5 knockdown cells restores p53 expression and cell survival | 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., Free PMC Article | 08/16/2010 |
| Inactivation of SNF5 cooperates with p53 loss to accelerate tumor formation. | Inactivation of SNF5 cooperates with p53 loss to accelerate tumor formation in Snf5(+/-);p53(+/-) mice.
DelBove J, Kuwahara Y, Mora-Blanco EL, Godfrey V, Funkhouser WK, Fletcher CD, Van Dyke T, Roberts CW, Weissman BE., Free PMC Article | 01/21/2010 |
| Loss of the SNF5 tumor suppressor acting through BRG1 is associated with neoplasms. | Oncogenesis caused by loss of the SNF5 tumor suppressor is dependent on activity of BRG1, the ATPase of the SWI/SNF chromatin remodeling complex.
Wang X, Sansam CG, Thom CS, Metzger D, Evans JA, Nguyen PT, Roberts CW., Free PMC Article | 01/21/2010 |
| Snf5-deficient primary cells do not show altered sensitivity to DNA damaging agents, defects in gamma-H2AX induction, or an abrogated DNA damage checkpoint. | Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability.
McKenna ES, Sansam CG, Cho YJ, Greulich H, Evans JA, Thom CS, Moreau LA, Biegel JA, Pomeroy SL, Roberts CW., Free PMC Article | 01/21/2010 |
| Relationship between Rb and Ini1 in tumor suppression indicate that Ini1 plays a role in maintaining the morphologic and functional differentiation of corticotrophic cells. | Functional interaction of the retinoblastoma and Ini1/Snf5 tumor suppressors in cell growth and pituitary tumorigenesis.
Guidi CJ, Mudhasani R, Hoover K, Koff A, Leav I, Imbalzano AN, Jones SN. | 01/21/2010 |
| tumor suppressor activity of Snf5 depends on its regulation of cell cycle progression | 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., Free PMC Article | 01/21/2010 |
| tissues heterozygous for the Ini1 tumor suppressor express levels of protein and message roughly equivalent to the levels observed in wild type counterparts. Compensation of Ini1 is mediated by an increase in the rate of transcription from the promoter. | Transcriptional compensation for loss of an allele of the Ini1 tumor suppressor.
Guidi CJ, Veal TM, Jones SN, Imbalzano AN. | 01/21/2010 |
| SNF5-deleted cells showed increased proliferation, and identification of several misexpressed genes that may contribute to cell cycle deregulation in these cells | The SWI/SNF chromatin-remodeling complex subunit SNF5 is essential for hepatocyte differentiation.
Gresh L, Bourachot B, Reimann A, Guigas B, Fiette L, Garbay S, Muchardt C, Hue L, Pontoglio M, Yaniv M, Klochendler-Yeivin A., Free PMC Article | 01/21/2010 |
| The loss of this protein, a core subunit of SWI/SNF, results in highly penetrant cancer predisposition with 100% of mice developing mature CD8(+)T cell lymphoma or rare rhabdoid tumors with a median onset of only 11 weeks. | Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5.
Roberts CW, Leroux MM, Fleming MD, Orkin SH. | 01/21/2010 |
| p53 inactivation does not rescue the proliferation defect caused by Snf5 deficiency but reduces apoptosis and strongly accelerates tumor formation in Snf5-heterozygous mice. | Increased DNA damage sensitivity and apoptosis in cells lacking the Snf5/Ini1 subunit of the SWI/SNF chromatin remodeling complex.
Klochendler-Yeivin A, Picarsky E, Yaniv M., Free PMC Article | 01/21/2010 |