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Items: 1 to 50 of 334


Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis.

Pereira GC, Sanchez L, Schaughency PM, Rubio-Roldán A, Choi JA, Planet E, Batra R, Turelli P, Trono D, Ostrow LW, Ravits J, Kazazian HH, Wheelan SJ, Heras SR, Mayer J, García-Pérez JL, Goodier JL.

Mob DNA. 2018 Dec 15;9:35. doi: 10.1186/s13100-018-0138-z. eCollection 2018.


Fifty years in human genetics--a career retrospective.

Kazazian HH Jr.

FASEB J. 2017 Sep;31(9):3712-3718. doi: 10.1096/fj.201700502RR. Review. No abstract available.


Mobile DNA in Health and Disease.

Kazazian HH Jr, Moran JV.

N Engl J Med. 2017 Jul 27;377(4):361-370. doi: 10.1056/NEJMra1510092. Review. No abstract available.


Reading LINEs within the cocaine addicted brain.

Doyle GA, Doucet-O'Hare TT, Hammond MJ, Crist RC, Ewing AD, Ferraro TN, Mash DC, Kazazian HH Jr, Berrettini WH.

Brain Behav. 2017 Apr 6;7(5):e00678. doi: 10.1002/brb3.678. eCollection 2017 May.


Heritable L1 retrotransposition in the mouse primordial germline and early embryo.

Richardson SR, Gerdes P, Gerhardt DJ, Sanchez-Luque FJ, Bodea GO, Muñoz-Lopez M, Jesuadian JS, Kempen MHC, Carreira PE, Jeddeloh JA, Garcia-Perez JL, Kazazian HH Jr, Ewing AD, Faulkner GJ.

Genome Res. 2017 Aug;27(8):1395-1405. doi: 10.1101/gr.219022.116. Epub 2017 May 8.


Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.

Li P, Du J, Goodier JL, Hou J, Kang J, Kazazian HH Jr, Zhao K, Yu XF.

Nucleic Acids Res. 2017 May 5;45(8):4619-4631. doi: 10.1093/nar/gkx178.


Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma.

Doucet-O'Hare TT, Sharma R, Rodić N, Anders RA, Burns KH, Kazazian HH Jr.

Hum Mutat. 2016 Sep;37(9):942-54. doi: 10.1002/humu.23027. Epub 2016 Jul 13.


Roles for retrotransposon insertions in human disease.

Hancks DC, Kazazian HH Jr.

Mob DNA. 2016 May 6;7:9. doi: 10.1186/s13100-016-0065-9. eCollection 2016. Review.


25 Years of Human Mutation.

Cutting GR, Kazazian HH Jr.

Hum Mutat. 2016 Jun;37(6):503-4. doi: 10.1002/humu.22988. No abstract available.


Purification of L1-Ribonucleoprotein Particles (L1-RNPs) from Cultured Human Cells.

Mandal PK, Kazazian HH Jr.

Methods Mol Biol. 2016;1400:299-310. doi: 10.1007/978-1-4939-3372-3_19.


Long Interspersed Element Sequencing (L1-Seq): A Method to Identify Somatic LINE-1 Insertions in the Human Genome.

Doucet TT, Kazazian HH Jr.

Methods Mol Biol. 2016;1400:79-93. doi: 10.1007/978-1-4939-3372-3_5.


LINE-1 expression and retrotransposition in Barrett's esophagus and esophageal carcinoma.

Doucet-O'Hare TT, Rodić N, Sharma R, Darbari I, Abril G, Choi JA, Young Ahn J, Cheng Y, Anders RA, Burns KH, Meltzer SJ, Kazazian HH Jr.

Proc Natl Acad Sci U S A. 2015 Sep 1;112(35):E4894-900. doi: 10.1073/pnas.1502474112. Epub 2015 Aug 17. Erratum in: Proc Natl Acad Sci U S A. 2016 Jan 5;113(1):E104.


Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution.

Ewing AD, Gacita A, Wood LD, Ma F, Xing D, Kim MS, Manda SS, Abril G, Pereira G, Makohon-Moore A, Looijenga LH, Gillis AJ, Hruban RH, Anders RA, Romans KE, Pandey A, Iacobuzio-Donahue CA, Vogelstein B, Kinzler KW, Kazazian HH Jr, Solyom S.

Genome Res. 2015 Oct;25(10):1536-45. doi: 10.1101/gr.196238.115. Epub 2015 Aug 10.


In Memoriam: Richard G.H. Cotton (1940-2015).

Kazazian HH Jr, Paalman MH, Cutting GR.

Hum Mutat. 2015 Aug;36(8):741-2. doi: 10.1002/humu.22826. Epub 2015 Jul 3. No abstract available.


The Broad-Spectrum Antiviral Protein ZAP Restricts Human Retrotransposition.

Goodier JL, Pereira GC, Cheung LE, Rose RJ, Kazazian HH Jr.

PLoS Genet. 2015 May 22;11(5):e1005252. doi: 10.1371/journal.pgen.1005252. eCollection 2015 May.


2014 William Allan Award introduction: Stuart Orkin.

Kazazian HH Jr.

Am J Hum Genet. 2015 Mar 5;96(3):352-3. doi: 10.1016/j.ajhg.2014.11.018. No abstract available.


Processed pseudogene insertions in somatic cells.

Kazazian HH Jr.

Mob DNA. 2014 Jul 2;5:20. doi: 10.1186/1759-8753-5-20. eCollection 2014.


In vitro screening for compounds that enhance human L1 mobilization.

Terasaki N, Goodier JL, Cheung LE, Wang YJ, Kajikawa M, Kazazian HH Jr, Okada N.

PLoS One. 2013 Sep 11;8(9):e74629. doi: 10.1371/journal.pone.0074629. eCollection 2013.


Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.

Zhao K, Du J, Han X, Goodier JL, Li P, Zhou X, Wei W, Evans SL, Li L, Zhang W, Cheung LE, Wang G, Kazazian HH Jr, Yu XF.

Cell Rep. 2013 Sep 26;4(6):1108-15. doi: 10.1016/j.celrep.2013.08.019. Epub 2013 Sep 12.


Mapping the LINE1 ORF1 protein interactome reveals associated inhibitors of human retrotransposition.

Goodier JL, Cheung LE, Kazazian HH Jr.

Nucleic Acids Res. 2013 Aug;41(15):7401-19. doi: 10.1093/nar/gkt512. Epub 2013 Jun 9.


Enrichment of processed pseudogene transcripts in L1-ribonucleoprotein particles.

Mandal PK, Ewing AD, Hancks DC, Kazazian HH Jr.

Hum Mol Genet. 2013 Sep 15;22(18):3730-48. doi: 10.1093/hmg/ddt225. Epub 2013 May 21.


MOV10 RNA helicase is a potent inhibitor of retrotransposition in cells.

Goodier JL, Cheung LE, Kazazian HH Jr.

PLoS Genet. 2012;8(10):e1002941. doi: 10.1371/journal.pgen.1002941. Epub 2012 Oct 18.


The minimal active human SVA retrotransposon requires only the 5'-hexamer and Alu-like domains.

Hancks DC, Mandal PK, Cheung LE, Kazazian HH Jr.

Mol Cell Biol. 2012 Nov;32(22):4718-26. doi: 10.1128/MCB.00860-12. Epub 2012 Sep 24.


Extensive somatic L1 retrotransposition in colorectal tumors.

Solyom S, Ewing AD, Rahrmann EP, Doucet T, Nelson HH, Burns MB, Harris RS, Sigmon DF, Casella A, Erlanger B, Wheelan S, Upton KR, Shukla R, Faulkner GJ, Largaespada DA, Kazazian HH Jr.

Genome Res. 2012 Dec;22(12):2328-38. doi: 10.1101/gr.145235.112. Epub 2012 Sep 11.


Active human retrotransposons: variation and disease.

Hancks DC, Kazazian HH Jr.

Curr Opin Genet Dev. 2012 Jun;22(3):191-203. doi: 10.1016/j.gde.2012.02.006. Epub 2012 Mar 8. Review.


Mobile elements in the human genome: implications for disease.

Solyom S, Kazazian HH Jr.

Genome Med. 2012 Feb 24;4(2):12. doi: 10.1186/gm311.


Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon.

Solyom S, Ewing AD, Hancks DC, Takeshima Y, Awano H, Matsuo M, Kazazian HH Jr.

Hum Mutat. 2012 Feb;33(2):369-71. doi: 10.1002/humu.21663. Epub 2011 Dec 8.


Mobile DNA transposition in somatic cells.

Kazazian HH Jr.

BMC Biol. 2011 Sep 29;9:62. doi: 10.1186/1741-7007-9-62. Review.


Retrotransposition of marked SVA elements by human L1s in cultured cells.

Hancks DC, Goodier JL, Mandal PK, Cheung LE, Kazazian HH Jr.

Hum Mol Genet. 2011 Sep 1;20(17):3386-400. doi: 10.1093/hmg/ddr245. Epub 2011 Jun 2.


Efficacy and safety of long-term prophylaxis in severe hemophilia A dogs following liver gene therapy using AAV vectors.

Sabatino DE, Lange AM, Altynova ES, Sarkar R, Zhou S, Merricks EP, Franck HG, Nichols TC, Arruda VR, Kazazian HH Jr.

Mol Ther. 2011 Mar;19(3):442-9. doi: 10.1038/mt.2010.240. Epub 2010 Nov 16.


Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans.

Ewing AD, Kazazian HH Jr.

Genome Res. 2011 Jun;21(6):985-90. doi: 10.1101/gr.114777.110. Epub 2010 Oct 27.


Eradication of neutralizing antibodies to factor VIII in canine hemophilia A after liver gene therapy.

Finn JD, Ozelo MC, Sabatino DE, Franck HW, Merricks EP, Crudele JM, Zhou S, Kazazian HH, Lillicrap D, Nichols TC, Arruda VR.

Blood. 2010 Dec 23;116(26):5842-8. doi: 10.1182/blood-2010-06-288001. Epub 2010 Sep 28.


High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes.

Ewing AD, Kazazian HH Jr.

Genome Res. 2010 Sep;20(9):1262-70. doi: 10.1101/gr.106419.110. Epub 2010 May 20.


SVA retrotransposons: Evolution and genetic instability.

Hancks DC, Kazazian HH Jr.

Semin Cancer Biol. 2010 Aug;20(4):234-45. doi: 10.1016/j.semcancer.2010.04.001. Epub 2010 Apr 21. Review.


Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion.

Goodier JL, Mandal PK, Zhang L, Kazazian HH Jr.

Hum Mol Genet. 2010 May 1;19(9):1712-25. doi: 10.1093/hmg/ddq048. Epub 2010 Feb 10.


Many LINE1 elements contribute to the transcriptome of human somatic cells.

Rangwala SH, Zhang L, Kazazian HH Jr.

Genome Biol. 2009;10(9):R100. doi: 10.1186/gb-2009-10-9-r100. Epub 2009 Sep 22.


Recombinant canine B-domain-deleted FVIII exhibits high specific activity and is safe in the canine hemophilia A model.

Sabatino DE, Freguia CF, Toso R, Santos A, Merricks EP, Kazazian HH Jr, Nichols TC, Camire RM, Arruda VR.

Blood. 2009 Nov 12;114(20):4562-5. doi: 10.1182/blood-2009-05-220327. Epub 2009 Sep 21.


Exon-trapping mediated by the human retrotransposon SVA.

Hancks DC, Ewing AD, Chen JE, Tokunaga K, Kazazian HH Jr.

Genome Res. 2009 Nov;19(11):1983-91. doi: 10.1101/gr.093153.109. Epub 2009 Jul 27.


L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism.

Kano H, Godoy I, Courtney C, Vetter MR, Gerton GL, Ostertag EM, Kazazian HH Jr.

Genes Dev. 2009 Jun 1;23(11):1303-12. doi: 10.1101/gad.1803909.


The L1 retrotransposition assay: a retrospective and toolkit.

Rangwala SH, Kazazian HH Jr.

Methods. 2009 Nov;49(3):219-26. doi: 10.1016/j.ymeth.2009.04.012. Epub 2009 May 4. Review.


Allan Award Lecture: on jumping fields and "jumping genes".

Kazazian HH Jr.

Am J Hum Genet. 2009 Feb;84(2):105-14. No abstract available.


SnapShot: Vertebrate transposons.

Mandal PK, Kazazian HH Jr.

Cell. 2008 Oct 3;135(1):192-192.e1. doi: 10.1016/j.cell.2008.09.028. No abstract available.


Retrotransposons revisited: the restraint and rehabilitation of parasites.

Goodier JL, Kazazian HH Jr.

Cell. 2008 Oct 3;135(1):23-35. doi: 10.1016/j.cell.2008.09.022. Review.


In memoriam: Victor A. McKusick (1921-2008).

Cotton RG, Kazazian HH Jr, Cutting GR, Paalman MH.

Hum Mutat. 2008 Oct;29(10):1169-70. doi: 10.1002/humu.20890. No abstract available.


Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.

Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP.

BMC Med Genet. 2007 Oct 15;8:64.


A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids.

Babushok DV, Ohshima K, Ostertag EM, Chen X, Wang Y, Mandal PK, Okada N, Abrams CS, Kazazian HH Jr.

Genome Res. 2007 Aug;17(8):1129-38. Epub 2007 Jul 10.


L1 retrotransposition can occur early in human embryonic development.

van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP.

Hum Mol Genet. 2007 Jul 1;16(13):1587-92. Epub 2007 May 4.


Progress in understanding the biology of the human mutagen LINE-1.

Babushok DV, Kazazian HH Jr.

Hum Mutat. 2007 Jun;28(6):527-39. Review.


Current topics in genome evolution: molecular mechanisms of new gene formation.

Babushok DV, Ostertag EM, Kazazian HH Jr.

Cell Mol Life Sci. 2007 Mar;64(5):542-54. Review.


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