| 1 | EIEE54, HNRNPU
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| De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
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| Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study, Balasubramanian M.
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| Am J Med Genet A 173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25.
2017
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| 2 | EIEE54, HNRNPU
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| Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
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| Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y.
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| Am J Med Genet A 173(10):2680-2689. doi: 10.1002/ajmg.a.38388. Epub 2017 Aug 16.
2017
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| 3 | EIEE54, HNRNPU
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| Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
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| Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D.
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| Hum Genet 136(7):821-834. doi: 10.1007/s00439-017-1795-6. Epub 2017 Apr 9.
2017
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| 4 | DEL1Q44, HNRNPU
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| Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.
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| Westphal DS, Andres S, Beitzel KI, Makowski C, Meitinger T, Hoefele J.
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| Gene 616:41-44. doi: 10.1016/j.gene.2017.03.025. Epub 2017 Mar 21.
2017
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| 5 | HNRNPU
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| SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs.
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| Nozawa RS, Boteva L, Soares DC, Naughton C, Dun AR, Buckle A, Ramsahoye B, Bruton PC, Saleeb RS, Arnedo M, Hill B, Duncan RR, Maciver SK, Gilbert N.
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| Cell 169(7):1214-1227.e18. doi: 10.1016/j.cell.2017.05.029.
2017
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| 6 | DEL1Q44, HNRNPU
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| Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
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| Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.
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| Hum Genet 136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.
2017
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| 7 | CENPW, HNRNPU
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| Centromere Protein (CENP)-W Interacts with Heterogeneous Nuclear Ribonucleoprotein (hnRNP) U and May Contribute to Kinetochore-Microtubule Attachment in Mitotic Cells.
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| Chun Y, Kim R, Lee S.
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| PLoS One 11(2):e0149127. doi: 10.1371/journal.pone.0149127. eCollection 2016.
2016
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| 8 | HNRNPU
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| hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function.
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| Ye J, Beetz N, O'Keeffe S, Tapia JC, Macpherson L, Chen WV, Bassel-Duby R, Olson EN, Maniatis T.
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| Proc Natl Acad Sci U S A 112(23):E3020-9. doi: 10.1073/pnas.1508461112. Epub 2015 May 26.
2015
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| 9 | EIEE54, HNRNPU
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| De novo mutations in moderate or severe intellectual disability.
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| Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL.
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| PLoS Genet 10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.
2014
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| 10 | H19, HNRNPU
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| H19 inhibits RNA polymerase II-mediated transcription by disrupting the hnRNP U-actin complex.
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| Bi HS, Yang XY, Yuan JH, Yang F, Xu D, Guo YJ, Zhang L, Zhou CC, Wang F, Sun SH.
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| Biochim Biophys Acta 1830(10):4899-906. doi: 10.1016/j.bbagen.2013.06.026. Epub 2013 Jun 27.
2013
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| 11 | HNRNPU
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| Nuclear matrix factor hnRNP U/SAF-A exerts a global control of alternative splicing by regulating U2 snRNP maturation.
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| Xiao R, Tang P, Yang B, Huang J, Zhou Y, Shao C, Li H, Sun H, Zhang Y, Fu XD.
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| Mol Cell 45(5):656-68. Epub 2012 Feb 9.
2012
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| 12 | COX20, DEL1Q44, HNRNPU
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| Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
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| Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.
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| Am J Med Genet A 158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7. 2012
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| 13 | AKT3, C1ORF199, COX20, DEL1Q44, DEL1QD, HNRNPU, ZBTB18
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| High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
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| Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.
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| Hum Genet um Genet. 2011 Jul 29. [Epub ahead of print] 2011
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| 14 | HNRNPU
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| The nuclear scaffold protein SAF-A is required for kinetochore-microtubule attachment and contributes to the targeting of Aurora-A to mitotic spindles.
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| Ma N, Matsunaga S, Morimoto A, Sakashita G, Urano T, Uchiyama S, Fukui K.
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| J Cell Sci 124(Pt 3):394-404.
2011
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| 15 | HNRNPU
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| SAF-A has a role in transcriptional regulation of Oct4 in ES cells through promoter binding.
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| Vizlin-Hodzic D, Johansson H, Ryme J, Simonsson T, Simonsson S.
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| Cell Reprogram 13(1):13-27. Epub 2011 Jan 14.
2011
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| 16 | DEL1Q44, HNRNPU, HNRPU
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| Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
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| Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M.
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| Eur J Med Genet 53(4):179-85. Epub 2010 Apr 9.PMID: 20382278 2010
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| 17 | ASH2L, HNRNPU
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| The Trithorax group protein Ash2l and Saf-A are recruited to the inactive X chromosome at the onset of stable X inactivation.
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| Pullirsch D, Härtel R, Kishimoto H, Leeb M, Steiner G, Wutz A.
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| Development 137(6):935-43. Epub 2010 Feb 11.
2010
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| 18 | HNRNPU, TOP2B
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| Regulation of DNA Topoisomerase IIbeta through RNA-dependent association with heterogeneous nuclear ribonucleoprotein U (hnRNP U).
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| Kawano S, Miyaji M, Ichiyasu S, Tsutsui KM, Tsutsui K.
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| J Biol Chem 285(34):26451-60. doi: 10.1074/jbc.M110.112979. Epub 2010 Jun 16.
2010
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| 19 | CBX5, HNRNPU
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| Physical and functional interaction between heterochromatin protein 1alpha and the RNA-binding protein heterogeneous nuclear ribonucleoprotein U.
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| Ameyar-Zazoua M, Souidi M, Fritsch L, Robin P, Thomas A, Hamiche A, Percipalle P, Ait-Si-Ali S, Harel-Bellan A.
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| J Biol Chem 284(41):27974-9. Epub 2009 Jul 17.PMID: 19617346 2009
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| 20 | HNRNPU
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| SAF-A/hnRNP-U localization in interphase and metaphase.
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| Kukalev AS, Lobov IB, Percipalle P, Podgornaya OI.
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| Cytogenet Genome Res 124(3-4):288-97. Epub 2009 Jun 25.
2009
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| 21 | HNRNPU, PRKDC
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| hnRNP-U is a specific DNA-dependent protein kinase substrate phosphorylated in response to DNA double-strand breaks.
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| Berglund FM, Clarke PR.
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| Biochem Biophys Res Commun 381(1):59-64. Epub 2009 Feb 11.
2009
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| 22 | CBX3, HNRNPU
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| Identifying functional neighborhoods within the cell nucleus: proximity analysis of early S-phase replicating chromatin domains to sites of transcription, RNA polymerase II, HP1gamma, matrin 3 and SAF-A.
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| Malyavantham KS, Bhattacharya S, Barbeitos M, Mukherjee L, Xu J, Fackelmayer FO, Berezney R.
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| J Cell Biochem 105(2):391-403.PMID: 18618731 2008
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| 23 | EP300, HNRNPU
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| Scaffold/matrix attachment region elements interact with a p300-scaffold attachment factor A complex and are bound by acetylated nucleosomes.
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| Martens JH, Verlaan M, Kalkhoven E, Dorsman JC, Zantema A.
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| Mol Cell Biol 22(8):2598-606. 2002
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| 24 | HNRNPU
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| Pseudosubstrate regulation of the SCF(beta-TrCP) ubiquitin ligase by hnRNP-U.
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| Davis M, Hatzubai A, Andersen JS, Ben-Shushan E, Fisher GZ, Yaron A, Bauskin A, Mercurio F, Mann M, Ben-Neriah Y.
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| Genes Dev 16(4):439-51. 2002
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| 25 | HNRNPU
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| Apoptotic cleavage of scaffold attachment factor A (SAF-A) by caspase-3 occursat a noncanonical cleavage site.
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| Kipp M, Schwab BL, Przybylski M, Nicotera P, Fackelmayer FO.
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| J Biol Chem 275(7):5031-6. 2000
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| 26 | HNRNPU
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| The novel SAR-binding domain of scaffold attachment factor A (SAF-A) is a targetin apoptotic nuclear breakdown.
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| Gohring F, Schwab BL, Nicotera P, Leist M, Fackelmayer FO.
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| EMBO J 16(24):7361-71. 1997
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| 27 | HNRNPU
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| Association of nuclear matrix proteins with granular and threaded nuclear bodies in cell lines undergoing apoptosis.
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| Zweyer M, Riederer BM, Ochs RL, Fackelmayer FO, Kohwi-Shigematsu T, Bareggi R, Narducci P, Martelli AM.
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| Exp Cell Res 230(2):325-36. 1997
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| 28 | HNRNPU
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| hnRNP-U/SAF-A is encoded by two differentially polyadenylated mRNAs in humancells.
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| Fackelmayer FO, Richter A.
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| Biochim Biophys Acta 1217(2):232-4. 1994
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| 29 | HNRNPU, HNRNPUL2
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| Purification of two isoforms of hnRNP-U and characterization of their nucleicacid binding activity.
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| Fackelmayer FO, Richter A.
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| Biochemistry 33(34):10416-22. 1994
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| 30 | HNRNPU
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| A tumor-associated 120 kDa nuclear protein: characterization using a monoclonalantibody and a partial cDNA clone.
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| Fukuda K, Chiu JF.
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| Int J Biochem 25(2):183-200. 1993
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| 31 | HNRNPU
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| Primary structure and binding activity of the hnRNP U protein: binding RNAthrough RGG box.
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| Kiledjian M, Dreyfuss G.
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| EMBO J 11(7):2655-64. 1992
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| 32 | HNRNPU
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| Analysis of the organization and nucleotide sequence of the chromosomal gene forthe beta-subunit of rat thyrotropin.
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| Croyle ML, Bhattacharya A, Gordon DF, Maurer RA.
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| DNA 5(4):299-304. 1986
|