PMC Links for Nucleotide (Select 1519242333) - PMC

Select item 67095271.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke, Muhammad Ilyas, Eloise Tribollet, Pedro J. Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stephanie Efthymiou, Diego Kaski, Nick W. Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo Bronstein, Pietro Fratta, Wilson J. Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

Nat Genet. Author manuscript; available in PMC 2019 Aug 26.

Published in final edited form as: Nat Genet. 2019 Apr; 51(4): 649–658. Published online 2019 Mar 29. doi: 10.1038/s41588-019-0372-4

Correction in:: Nat Genet. 2019 May; 51(5): 920.

PMCID:: PMC6709527

Abstract Article PDF–1.1M

Select item 66125332.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L.M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew M. Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmagyi, Solange Kapetanovic, Anthony Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan L. Perlman, Ian Rosemergy, Elsdon Storey, Shaun R.D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

Am J Hum Genet. 2019 Jul 3; 105(1): 151–165. Published online 2019 Jun 20. doi: 10.1016/j.ajhg.2019.05.016

PMCID:: PMC6612533

Abstract Article PDF–2.2M

Select item 62654503.

Regulation of HLTF-mediated PCNA polyubiquitination by RFC and PCNA monoubiquitination levels determines choice of damage tolerance pathway

Yuji Masuda, Satoshi Mitsuyuki, Rie Kanao, Asami Hishiki, Hiroshi Hashimoto, Chikahide Masutani

Nucleic Acids Res. 2018 Nov 30; 46(21): 11340–11356. Published online 2018 Oct 18. doi: 10.1093/nar/gky943

PMCID:: PMC6265450

Abstract Article PDF–3.4M

Select item 54167664.

Human CTF18-RFC clamp-loader complexed with non-synthesising DNA polymerase ε efficiently loads the PCNA sliding clamp

Ryo Fujisawa, Eiji Ohashi, Kouji Hirota, Toshiki Tsurimoto

Nucleic Acids Res. 2017 May 5; 45(8): 4550–4563. Published online 2017 Feb 13. doi: 10.1093/nar/gkx096

PMCID:: PMC5416766

Abstract Article PDF–8.0M

Select item 41365845.

Kaposi's sarcoma-associated herpesvirus LANA recruits the DNA polymerase clamp loader to mediate efficient replication and virus persistence

Qiming Sun, Toshiki Tsurimoto, Franceline Juillard, Lin Li, Shijun Li, Erika De León Vázquez, She Chen, Kenneth Kaye

Proc Natl Acad Sci U S A. 2014 Aug 12; 111(32): 11816–11821. Published online 2014 Jul 28. doi: 10.1073/pnas.1404219111

Correction in:: Proc Natl Acad Sci U S A. 2014 Sep 30; 111(39): 14308.

PMCID:: PMC4136584

Abstract Article PDF–1.3M

Select item 3585216.

Cloning, expression, and chromosomal localization of the 140-kilodalton subunit of replication factor C from mice and humans.

B Luckow, F Bunz, B Stillman, P Lichter, G Schütz

Mol Cell Biol. 1994 Mar; 14(3): 1626–1634. doi: 10.1128/mcb.14.3.1626

PMCID:: PMC358521

Summary Page Browse PDF–2.3M

Select item 479127.

cDNAs encoding the large subunit of human replication factor C.

F Bunz, R Kobayashi, B Stillman

Proc Natl Acad Sci U S A. 1993 Dec 1; 90(23): 11014–11018. doi: 10.1073/pnas.90.23.11014

PMCID:: PMC47912

Summary Page Browse PDF–1.3M

Select item 40213938.

Gene expression profiling reveals activation of the FA/BRCA pathway in advanced squamous cervical cancer with intrinsic resistance and therapy failure

Ovidiu Balacescu, Loredana Balacescu, Oana Tudoran, Nicolae Todor, Meda Rus, Rares Buiga, Sergiu Susman, Bogdan Fetica, Laura Pop, Laura Maja, Simona Visan, Claudia Ordeanu, Ioana Berindan-Neagoe, Viorica Nagy

BMC Cancer. 2014; 14: 246. Published online 2014 Apr 8. doi: 10.1186/1471-2407-14-246

PMCID:: PMC4021393

Abstract Article PDF–1.9M

Select item 39577359.

DNA Repair Pathways in Trypanosomatids: from DNA Repair to Drug Resistance

Marie-Michelle Genois, Eric R. Paquet, Marie-Claude N. Laffitte, Ranjan Maity, Amélie Rodrigue, Marc Ouellette, Jean-Yves Masson

Microbiol Mol Biol Rev. 2014 Mar; 78(1): 40–73. doi: 10.1128/MMBR.00045-13

PMCID:: PMC3957735

Abstract Article PDF–3.2M

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