1 | CMDTAF1AD, TAF1A
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| Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.
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| Long PA, Theis JL, Shih YH, Maleszewski JJ, Abell Aleff PC, Evans JM, Xu X, Olson TM.
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| Hum Mol Genet. Aug 1;26(15):2874-2881. doi: 10.1093/hmg/ddx169 2017
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2 | CATIFA, CYP51A1, GEMIN4, NEDMCR, RIC1, TAF1A, TAPT1, WDR87
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| Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
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| Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS.
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| Hum Genet. Feb;136(2):205-225. doi: 10.1007/s00439-016-1747-6. Epub 2016 Nov 22. 2017
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3 | AFF1, TAF1A, TAF1B, TAF1C, TBP
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| TBP loading by AF4 through SL1 is the major rate-limiting step in MLL fusion-dependent transcription.
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| Okuda H, Takahashi S, Takaori-Kondo A, Yokoyama A.
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| Cell Cycle. Oct 17;15(20):2712-22. doi: 10.1080/15384101.2016.1222337. Epub 2016 Aug 26 2016
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4 | TAF1A, TAF1B, TAF1C
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| Frameshift mutations of TAF1C gene, a core component for transcription by RNA polymerase I, and its regional heterogeneity in gastric and colorectal cancers.
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| Oh HR, An CH, Yoo NJ, Lee SH.
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| Pathology Feb;47(2):101-4. doi: 10.1097/PAT.0000000000000212 2015
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5 | TAF1A, TAF1B, TAF1C
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| Identification of a domain within human TAF(I)48, a subunit of Selectivity Factor 1, that interacts with helix 2 of TBP.
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| Xu S, Hori RT.
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| Gene 338(2):177-86. 2004
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6 | TAF1A, TAF1B, TAF1C
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| Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1.
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| Di Pietro C, Rapisarda A, Amico V, Bonaiuto C, Viola A, Scalia M, Motta S, Amato A, Engel H, Messina A, Sichel G, Grzeschik K, Purrello M.
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| Cytogenet Cell Genet 89(1-2):133-6. 2000
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