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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1990 1
1992 1
1994 1
1995 2
1996 3
1997 3
1998 4
1999 8
2000 2
2001 4
2002 2
2003 1
2004 1
2005 2
2006 1
2007 2
2008 4
2009 3
2010 3
2011 6
2012 5
2013 5
2014 8
2015 4
2016 8
2017 11
2018 2
2019 4
2020 4
2023 1
2024 0

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Similar articles for PMID: 24911150

101 results

Results by year

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Page 1
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH. Baple EL, et al. J Clin Invest. 2014 Jul;124(7):3137-46. doi: 10.1172/JCI74593. Epub 2014 Jun 9. J Clin Invest. 2014. PMID: 24911150 Free PMC article.
PCNA mutation affects DNA repair not replication.
Green CM, Baple EL, Crosby AH. Green CM, et al. Cell Cycle. 2014;13(20):3157-8. doi: 10.4161/15384101.2014.969994. Cell Cycle. 2014. PMID: 25485490 Free PMC article. No abstract available.
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Falik-Zaccai TC, Erel-Segal R, Horev L, Bitterman-Deutsch O, Koka S, Chaim S, Keren Z, Kalfon L, Gross B, Segal Z, Orgal S, Shoval Y, Slor H, Spivak G, Hanawalt PC. Falik-Zaccai TC, et al. Environ Mol Mutagen. 2012 Aug;53(7):505-14. doi: 10.1002/em.21716. Epub 2012 Jul 23. Environ Mol Mutagen. 2012. PMID: 22826098
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.
Magrino J, Munford V, Martins DJ, Homma TK, Page B, Gaubitz C, Freire BL, Lerario AM, Vilar JB, Amorin A, Leão EKE, Kok F, Menck CF, Jorge AA, Kelch BA. Magrino J, et al. J Biol Chem. 2023 May;299(5):104656. doi: 10.1016/j.jbc.2023.104656. Epub 2023 Mar 27. J Biol Chem. 2023. PMID: 36990216 Free PMC article.
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Di Donato N, et al. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3. J Med Genet. 2016. PMID: 26843489
101 results