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Items: 1 to 20 of 136

1.
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders
Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi, Hormos Salimi Dafsari
Int J Mol Sci. 2024 Feb; 25(4): 2053. Published online 2024 Feb 8. doi: 10.3390/ijms25042053
PMCID:
PMC10889399
AbstractArticlePDF–4.0M
2.
Unraveling the mechanism of recognition of the 3’ splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60
Hsin-hao T. Hsiao, Gregg V. Crichlow, James W. Murphy, Ewa J. Folta-Stogniew, Elias J. Lolis, Demetrios T. Braddock
PLoS One. 2020; 15(11): e0242725. Published online 2020 Nov 30. doi: 10.1371/journal.pone.0242725
PMCID:
PMC7703929
AbstractArticlePDF–3.8M
3.
Poly(U) binding splicing factor 60 promotes renal cell carcinoma growth by transcriptionally upregulating telomerase reverse transcriptase
Qian Long, Yijun Hua, Liru He, Changlin Zhang, Silei Sui, Yixin Li, Huijuan Qiu, Tian Tian, Xin An, Guangyu Luo, Yue Yan, Anshi Zhao, Dingbo Shi, Fangyun Xie, Miao Chen, Fufu Zheng, Wuguo Deng
Int J Biol Sci. 2020; 16(15): 3002–3017. Published online 2020 Sep 25. doi: 10.7150/ijbs.45115
PMCID:
PMC7545719
AbstractArticlePDF–2.6M
4.
PUF60-activated exons uncover altered 3′ splice-site selection by germline missense mutations in a single RRM
Jana Královičová, Ivana Ševčíková, Eva Stejskalová, Mina Obuća, Michael Hiller, David Staněk, Igor Vořechovský
Nucleic Acids Res. 2018 Jul 6; 46(12): 6166–6187. Published online 2018 May 18. doi: 10.1093/nar/gky389
PMCID:
PMC6093180
AbstractArticlePDF–7.3M
5.
Involvement of PUF60 in Transcriptional and Post-transcriptional Regulation of Hepatitis B Virus Pregenomic RNA Expression
Suofeng Sun, Kenji Nakashima, Masahiko Ito, Yuan Li, Takeshi Chida, Hirotaka Takahashi, Koichi Watashi, Tatsuya Sawasaki, Takaji Wakita, Tetsuro Suzuki
Sci Rep. 2017; 7: 12874. Published online 2017 Oct 9. doi: 10.1038/s41598-017-12497-y
PMCID:
PMC5634508
AbstractArticlePDF–2.7M
6.
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
Eur J Hum Genet. 2017 May; 25(5): 552–559. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.27
PMCID:
PMC5392357
AbstractArticlePDF–2.6M
7.
Anti-FIRs (PUF60) auto-antibodies are detected in the sera of early-stage colon cancer patients
Sohei Kobayashi, Tyuji Hoshino, Takaki Hiwasa, Mamoru Satoh, Bahityar Rahmutulla, Sachio Tsuchida, Yuji Komukai, Tomoaki Tanaka, Hisahiro Matsubara, Hideaki Shimada, Fumio Nomura, Kazuyuki Matsushita
Oncotarget. 2016 Dec 13; 7(50): 82493–82503. Published online 2016 Oct 15. doi: 10.18632/oncotarget.12696
PMCID:
PMC5347708
AbstractArticlePDF–3.3M
8.
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Eur J Hum Genet. 2017 Jan; 25(1): 43–51. Published online 2016 Nov 2. doi: 10.1038/ejhg.2016.133
PMCID:
PMC5159768
AbstractArticlePDF–1.1M
9.
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
Jin J. Zhao, Jonatan Halvardson, Cecilia S. Zander, Ammar Zaghlool, Patrik Georgii‐Hemming, Else Månsson, Göran Brandberg, Helena E. Sävmarker, Carina Frykholm, Ekaterina Kuchinskaya, Ann‐Charlotte Thuresson, Lars Feuk
Am J Med Genet B Neuropsychiatr Genet. 2018 Jan; 177(1): 10–20. Published online 2017 Oct 9. doi: 10.1002/ajmg.b.32574
PMCID:
PMC5765476
AbstractArticlePDF–525K
10.
Whole-exome sequencing and genome-wide methylation analyses identify novel disease associated mutations and methylation patterns in idiopathic hypereosinophilic syndrome
Christen Lykkegaard Andersen, Helene Myrtue Nielsen, Lasse Sommer Kristensen, Alexandra Søgaard, Jonas Vikeså, Lars Jønson, Finn Cilius Nielsen, Hans Hasselbalch, Ole Weis Bjerrum, Vasu Punj, Kirsten Grønbæk
Oncotarget. 2015 Dec 1; 6(38): 40588–40597. Published online 2015 Oct 19. doi: 10.18632/oncotarget.5845
PMCID:
PMC4747354
AbstractArticlePDF–1.6M
11.
Control of Pre-mRNA Splicing by the General Splicing Factors PUF60 and U2AF65
Michelle L. Hastings, Eric Allemand, Dominik M. Duelli, Michael P. Myers, Adrian R. Krainer
PLoS One. 2007; 2(6): e538. Published online 2007 Jun 20. doi: 10.1371/journal.pone.0000538
PMCID:
PMC1888729
AbstractArticlePDF–1.0M
12.
Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins.
P Bouffard, E Barbar, F Brière, G Boire
RNA. 2000 Jan; 6(1): 66–78. doi: 10.1017/s1355838200990277
PMCID:
PMC1369894
SummaryPDF–2.7M
13.
SAP155‐mediated c‐myc suppressor far‐upstream element‐binding protein‐interacting repressor splicing variants are activated in colon cancer tissues
Toshiko Kajiwara, Kazuyuki Matsushita, Sakae Itoga, Mai Tamura, Nobuko Tanaka, Takeshi Tomonaga, Hisahiro Matsubara, Hideaki Shimada, Yasuaki Habara, Masafumi Matsuo, Fumio Nomura
Cancer Sci. 2013 Feb; 104(2): 149–156. Published online 2012 Dec 4. doi: 10.1111/cas.12058
PMCID:
PMC7657139
AbstractArticlePDF–2.1M
14.
SAP155-Mediated Splicing of FUSE-Binding Protein-Interacting Repressor Serves as a Molecular Switch for c-myc Gene Expression
Kazuyuki Matsushita, Toshiko Kajiwara, Mai Tamura, Mamoru Satoh, Nobuko Tanaka, Takeshi Tomonaga, Hisahiro Matsubara, Hideaki Shimada, Rei Yoshimoto, Akihiro Ito, Shuji Kubo, Tohru Natsume, David Levens, Minoru Yoshida, Fumio Nomura
Mol Cancer Res. Author manuscript; available in PMC 2020 Sep 3.
Published in final edited form as: Mol Cancer Res. 2012 Jun; 10(6): 787–799. Published online 2012 Apr 11. doi: 10.1158/1541-7786.MCR-11-0462
PMCID:
PMC7469880
AbstractArticlePDF–1.1M
15.
Human Y5 RNA specializes a Ro ribonucleoprotein for 5S ribosomal RNA quality control
J. Robert Hogg, Kathleen Collins
Genes Dev. 2007 Dec 1; 21(23): 3067–3072. doi: 10.1101/gad.1603907
PMCID:
PMC2081973
AbstractArticlePDF–391K
16.
Interactions between SAP155 and FUSE-Binding Protein-Interacting Repressor Bridges c-Myc and P27Kip1 Expression
Kazuyuki Matsushita, Mai Tamura, Nobuko Tanaka, Takeshi Tomonaga, Hisahiro Matsubara, Hideaki Shimada, David Levens, Liusheng He, Juhong Liu, Minoru Yoshida, Fumio Nomura
Mol Cancer Res. Author manuscript; available in PMC 2020 Oct 27.
Published in final edited form as: Mol Cancer Res. 2013 Jul; 11(7): 689–698. Published online 2013 Apr 17. doi: 10.1158/1541-7786.MCR-12-0673
PMCID:
PMC7589523
AbstractArticlePDF–1.7M
17.
Haploinsufficiency of the c-myc transcriptional repressor FIR, as a dominant negative-alternative splicing model, promoted p53-dependent T-cell acute lymphoblastic leukemia progression by activating Notch1
Kazuyuki Matsushita, Kouichi Kitamura, Bahityar Rahmutulla, Nobuko Tanaka, Takayuki Ishige, Mamoru Satoh, Tyuji Hoshino, Satoru Miyagi, Takeshi Mori, Sakae Itoga, Hideaki Shimada, Takeshi Tomonaga, Minoru Kito, Yaeko Nakajima-Takagi, Shuji Kubo, Chiaki Nakaseko, Masahiko Hatano, Takashi Miki, Masafumi Matsuo, Masaki Fukuyo, Atsushi Kaneda, Atsushi Iwama, Fumio Nomura
Oncotarget. 2015 Mar 10; 6(7): 5102–5117. Published online 2014 Dec 31. doi: 10.18632/oncotarget.3244
PMCID:
PMC4467136
AbstractArticlePDF–6.4M
18.
Alternative splicing of FBP-interacting repressor coordinates c-Myc, P27Kip1/cyclinE and Ku86/XRCC5 expression as a molecular sensor for bleomycin-induced DNA damage pathway
Bahityar Rahmutulla, Kazuyuki Matsushita, Mamoru Satoh, Masanori Seimiya, Sachio Tsuchida, Shuji Kubo, Hideaki Shimada, Masayuki Ohtsuka, Masaru Miyazaki, Fumio Nomura
Oncotarget. 2014 May; 5(9): 2404–2417. Published online 2013 Dec 21. doi: 10.18632/oncotarget.1650
PMCID:
PMC4058014
AbstractArticlePDF–3.3M
19.
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M. Jodelka, Maria Kibaek, Susanne Kjaergaard, Bruno Leheup, Danielle Martinet, Malgorzata J.M. Nowaczyk, Jill A. Rosenfeld, Susan Zeesman, Janice Zunich, Jacques S. Beckmann, Joel N. Hirschhorn, Michelle L. Hastings, Sebastien Jacquemont, Nicholas Katsanis
Am J Hum Genet. 2013 Nov 7; 93(5): 798–811. doi: 10.1016/j.ajhg.2013.09.010
Correction in:
Am J Hum Genet. 2013 Nov 7; 93(5): 994.
PMCID:
PMC3824129
AbstractArticlePDF–1.5M
20.
The FUSE/FBP/FIR/TFIIH system is a molecular machine programming a pulse of c-myc expression
Juhong Liu, Fedor Kouzine, Zuqin Nie, Hye-Jung Chung, Zichrini Elisha-Feil, Achim Weber, Keji Zhao, David Levens
EMBO J. 2006 May 17; 25(10): 2119–2130. Published online 2006 Apr 20. doi: 10.1038/sj.emboj.7601101
PMCID:
PMC1462968
AbstractArticlePDF–332K

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