Citations for
1NAA15, PUF60
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Mĺnsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L.
Am J Med Genet B Neuropsychiatr Genet 177(1):10-20. doi: 10.1002/ajmg.b.32574. Epub 2017 Oct 9. 2018
2PUF60
PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
Královicová J, Ševcíková I, Stejskalová E, Obuca M, Hiller M, Stanek D, Vorechovský I.
Nucleic Acids Res ucleic Acids Res. 2018 May 18. doi: 10.1093/nar/gky389. [Epub ahead of print] 2018
3PUF60
The prevalence and clinical significance of anti-PUF60 antibodies in patients with idiopathic inflammatory myopathy.
Zhang YM, Yang HB, Shi JL, Chen H, Shu XM, Lu X, Wang GC, Peng QL.
Clin Rheumatol 37(6):1573-1580. doi: 10.1007/s10067-018-4031-4. Epub 2018 Mar 15. 2018
4DEL8Q24.3, PUF60
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF.
Eur J Hum Genet 25(5):552-559. doi: 10.1038/ejhg.2017.27. Epub 2017 Mar 22. 2017
5DEL8Q24.3, PUF60
First fetal case of the 8q24.3 contiguous genes syndrome.
Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S.
Am J Med Genet A 170A(1):239-42. doi: 10.1002/ajmg.a.37411. Epub 2015 Oct 5. 2016
6PUF60
PUF60: a prominent new target of the autoimmune response in dermatomyositis and Sjögren's syndrome.
Fiorentino DF, Presby M, Baer AN, Petri M, Rieger KE, Soloski M, Rosen A, Mammen AL, Christopher-Stine L, Casciola-Rosen L.
Ann Rheum Dis 75(6):1145-51. doi: 10.1136/annrheumdis-2015-207509. Epub 2015 Aug 7. 2016
7DEL8Q24.3, PUF60
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N.
Am J Hum Genet 93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994. 2013
8FUBP1, FUSE, PUF60
Quantitative characterization of the interactions among c-myc transcriptional regulators FUSE, FBP, and FIR.
Hsiao HH, Nath A, Lin CY, Folta-Stogniew EJ, Rhoades E, Braddock DT.
Biochemistry 49(22):4620-34. doi: 10.1021/bi9021445. 2010
9PUF60, U2AF2
Dimerization and protein binding specificity of the U2AF homology motif of the splicing factor Puf60.
Corsini L, Hothorn M, Stier G, Rybin V, Scheffzek K, Gibson TJ, Sattler M.
J Biol Chem 284(1):630-9. Epub 2008 Oct 29. 2009
10FUBP1, PUF60
Dimerization of FIR upon FUSE DNA binding suggests a mechanism of c-myc inhibition.
Crichlow GV, Zhou H, Hsiao HH, Frederick KB, Debrosse M, Yang Y, Folta-Stogniew EJ, Chung HJ, Fan C, De la Cruz EM, Levens D, Lolis E, Braddock D.
EMBO J 27(1):277-89. Epub 2007 Dec 6.PMID: 18059478 2008
11PUF60
Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum.
Liu J, Akoulitchev S, Weber A, Ge H, Chuikov S, Libutti D, Wang XW, Conaway JW, Harris CC, Conaway RC, Reinberg D, Levens D.
Cell 104(3):353-63. 2001
12PUF60
Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins.
Bouffard P, Barbar E, Briere F, Boire G.
RNA 6(1):66-78. 2000
13PUF60
The FBP interacting repressor targets TFIIH to inhibit activated transcription.
Liu J, He L, Collins I, Ge H, Libutti D, Li J, Egly JM, Levens D.
Mol Cell 5(2):331-41. 2000
14PUF60
PUF60: a novel U2AF65-related splicing activity.
Page-McCaw PS, Amonlirdviman K, Sharp PA.
RNA 5(12):1548-60. 1999