1 | IDSDBA, SMARCC2
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| Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
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| Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network, Campeau PM.
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| Am J Hum Genet 104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.
2019
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2 | SMARCA4, SMARCC2, SMARCD3
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| Dynamic BAF chromatin remodeling complex subunit inclusion promotes temporally distinct gene expression programs in cardiogenesis
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| Hota SK, Johnson JR, Verschueren E, Thomas R, Blotnick AM, Zhu Y, Sun X, Pennacchio LA, Krogan NJ, Bruneau BG.
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| Development. Jul 5;146(19):dev174086. doi: 10.1242/dev.174086. 2019
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3 | SMARCC2
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| Ablation of BAF170 in Developing and Postnatal Dentate Gyrus Affects Neural Stem Cell Proliferation, Differentiation, and Learning.
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| Tuoc T, Dere E, Radyushkin K, Pham L, Nguyen H, Tonchev AB, Sun G, Ronnenberg A, Shi Y, Staiger JF, Ehrenreich H, Stoykova A.
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| Mol Neurobiol 54(6):4618-4635. doi: 10.1007/s12035-016-9948-5. Epub 2016 Jul 8.
2017
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4 | SMARCC1, SMARCC2
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| mSWI/SNF (BAF) Complexes Are Indispensable for the Neurogenesis and Development of Embryonic Olfactory Epithelium.
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| Bachmann C, Nguyen H, Rosenbusch J, Pham L, Rabe T, Patwa M, Sokpor G, Seong RH, Ashery-Padan R, Mansouri A, Stoykova A, Staiger JF, Tuoc T.
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| PLoS Genet 12(9):e1006274. doi: 10.1371/journal.pgen.1006274. eCollection 2016 Sep.
2016
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5 | SMARCA2, SMARCC2
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| Knockdown of Brm and Baf170, Components of Chromatin Remodeling Complex, Facilitates Reprogramming of Somatic Cells.
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| Jiang Z, Tang Y, Zhao X, Zhang M, Donovan DM, Tian XC.
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| Stem Cells Dev 24(19):2328-36. doi: 10.1089/scd.2015.0069. Epub 2015 Jun 29.
2015
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6 | SMARCC2
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| Chromatin regulation by BAF170 controls cerebral cortical size and thickness.
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| Tuoc TC, Boretius S, Sansom SN, Pitulescu ME, Frahm J, Livesey FJ, Stoykova A.
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| Dev Cell 25(3):256-69. doi: 10.1016/j.devcel.2013.04.005. Epub 2013 May 2.
2013
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7 | SMARCA4, SMARCC1, SMARCC2
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| An embryonic stem cell chromatin remodeling complex, esBAF, is essential for embryonic stem cell self-renewal and pluripotency.
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| Ho L, Ronan JL, Wu J, Staahl BT, Chen L, Kuo A, Lessard J, Nesvizhskii AI, Ranish J, Crabtree GR.
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| Proc Natl Acad Sci U S A 106(13):5181-6. Epub 2009 Mar 11.
2009
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8 | SMARCC1, SMARCC2, SMARCE1
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| Regulating SWI/SNF subunit levels via protein-protein interactions and proteasomal degradation: BAF155 and BAF170 limit expression of BAF57.
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| Chen J, Archer TK.
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| Mol Cell Biol 25(20):9016-27.PMID: 16199878 2005
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9 | NR3C1, SMARCA4, SMARCC1, SMARCC2, SMARCD1, SMARCE1
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| BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation.
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| Hsiao PW, Fryer CJ, Trotter KW, Wang W, Archer TK.
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| Mol Cell Biol 23(17):6210-20. 2003
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10 | SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2
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| Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits.
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| Phelan ML, Sif S, Narlikar GJ, Kingston RE.
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| Mol Cell 3(2):247-53. 1999
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11 | SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCD3
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| Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome.
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| Ring HZ, Vameghi-Meyers V, Wang W, Crabtree GR, Francke U.
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| Genomics 51(1):140-3. 1998
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12 | KLF1, SMARCB1, SMARCC1, SMARCC2
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| A SWI/SNF-related chromatin remodeling complex, E-RC1, is required for tissue-specific transcriptional regulation by EKLF in vitro.
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| Armstrong JA, Bieker JJ, Emerson BM.
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| Cell 95(1):93-104. 1998
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13 | SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCD3
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| Diversity and specialization of mammalian SWI/SNF complexes.
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| Wang W, et al.
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| Genes Dev 10(17):2117-30. 1996
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