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Results: 19

1.

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

Ostergaard E, Joensen F, Sundberg K, Duno M, Hansen FJ, Batbayli M, Sørensen N, Born AP.

Acta Paediatr. 2012 Nov;101(11):e509-13. doi: 10.1111/j.1651-2227.2012.02807.x. Epub 2012 Sep 5.

PMID:
22882256
[PubMed - indexed for MEDLINE]
2.

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.

Crow YJ, Livingston JH.

Dev Med Child Neurol. 2008 Jun;50(6):410-6. doi: 10.1111/j.1469-8749.2008.02062.x. Epub 2008 Apr 14. Review.

PMID:
18422679
[PubMed - indexed for MEDLINE]
3.

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, van Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard ML, Lebon P, Kumar D, Jackson AP, Crow YJ.

J Med Genet. 2006 May;43(5):444-50. Epub 2005 May 20.

PMID:
15908569
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

Izzotti A, Longobardi M, Cartiglia C, Anzuini F, Arrigo P, Fazzi E, Orcesi S, Piana RL, Pulliero A.

J Child Neurol. 2012 Jan;27(1):51-60. doi: 10.1177/0883073811413582. Epub 2011 Aug 23.

PMID:
21862834
[PubMed - indexed for MEDLINE]
5.

The structure of the mammalian RNase H2 complex provides insight into RNA.NA hybrid processing to prevent immune dysfunction.

Shaban NM, Harvey S, Perrino FW, Hollis T.

J Biol Chem. 2010 Feb 5;285(6):3617-24. doi: 10.1074/jbc.M109.059048. Epub 2009 Nov 18.

PMID:
19923215
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.

Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM.

Nucleic Acids Res. 2009 Jan;37(1):96-110. doi: 10.1093/nar/gkn913. Epub 2008 Nov 16.

PMID:
19015152
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP.

Nat Genet. 2006 Aug;38(8):910-6. Epub 2006 Jul 16.

PMID:
16845400
[PubMed - indexed for MEDLINE]
8.

Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity.

Hiller B, Achleitner M, Glage S, Naumann R, Behrendt R, Roers A.

J Exp Med. 2012 Jul 30;209(8):1419-26. doi: 10.1084/jem.20120876. Epub 2012 Jul 16.

PMID:
22802351
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

End-joining repair of double-strand breaks in Drosophila melanogaster is largely DNA ligase IV independent.

McVey M, Radut D, Sekelsky JJ.

Genetics. 2004 Dec;168(4):2067-76.

PMID:
15611176
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Aicardi-Goutières Syndrome.

Crow YJ.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2005 Jun 29 [updated 2014 Mar 13].

PMID:
20301648
[PubMed]
Books & Documents
11.

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

Reijns MA, Rabe B, Rigby RE, Mill P, Astell KR, Lettice LA, Boyle S, Leitch A, Keighren M, Kilanowski F, Devenney PS, Sexton D, Grimes G, Holt IJ, Hill RE, Taylor MS, Lawson KA, Dorin JR, Jackson AP.

Cell. 2012 May 25;149(5):1008-22. doi: 10.1016/j.cell.2012.04.011. Epub 2012 May 10.

PMID:
22579044
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair.

Ghodgaonkar MM, Lazzaro F, Olivera-Pimentel M, Artola-Borán M, Cejka P, Reijns MA, Jackson AP, Plevani P, Muzi-Falconi M, Jiricny J.

Mol Cell. 2013 May 9;50(3):323-32. doi: 10.1016/j.molcel.2013.03.019. Epub 2013 Apr 18.

PMID:
23603115
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Crosstalk between components of the innate immune system: promoting anti-microbial defenses and avoiding immunopathologies.

Crozat K, Vivier E, Dalod M.

Immunol Rev. 2009 Jan;227(1):129-49. doi: 10.1111/j.1600-065X.2008.00736.x. Review.

PMID:
19120481
[PubMed - indexed for MEDLINE]
14.

Non-random genomic integration - an intrinsic property of retrogenes in Drosophila?

Metta M, Schlötterer C.

BMC Evol Biol. 2010 Apr 28;10:114. doi: 10.1186/1471-2148-10-114.

PMID:
20426838
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The 13q and 11q B-cell chronic lymphocytic leukaemia-associated regions derive from a common ancestral region in the zebrafish.

Auer RL, Riaz S, Cotter FE.

Br J Haematol. 2007 Jun;137(5):443-53.

PMID:
17488487
[PubMed - indexed for MEDLINE]
16.

Spatio-temporal regulation of Wnt and retinoic acid signaling by tbx16/spadetail during zebrafish mesoderm differentiation.

Mueller RL, Huang C, Ho RK.

BMC Genomics. 2010 Sep 9;11:492. doi: 10.1186/1471-2164-11-492.

PMID:
20828405
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Identification of genes related to Parkinson's disease using expressed sequence tags.

Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS, Kim NS.

DNA Res. 2006 Dec 31;13(6):275-86. Epub 2007 Jan 8.

PMID:
17213182
[PubMed - indexed for MEDLINE]
Free Article
18.

Genome-wide mapping of boundary element-associated factor (BEAF) binding sites in Drosophila melanogaster links BEAF to transcription.

Jiang N, Emberly E, Cuvier O, Hart CM.

Mol Cell Biol. 2009 Jul;29(13):3556-68. doi: 10.1128/MCB.01748-08. Epub 2009 Apr 20.

PMID:
19380483
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Expression profiling of glial genes during Drosophila embryogenesis.

Altenhein B, Becker A, Busold C, Beckmann B, Hoheisel JD, Technau GM.

Dev Biol. 2006 Aug 15;296(2):545-60. Epub 2006 May 5.

PMID:
16762338
[PubMed - indexed for MEDLINE]
Free Article

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