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Items: 1 to 20 of 101

1.

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.

Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA.

Cell. 2012 Oct 26;151(3):483-96. doi: 10.1016/j.cell.2012.09.035.

2.

Resolving rates of mutation in the brain using single-neuron genomics.

Evrony GD, Lee E, Park PJ, Walsh CA.

Elife. 2016 Feb 22;5. pii: e12966. doi: 10.7554/eLife.12966.

3.

L1 retrotransposons and somatic mosaicism in the brain.

Richardson SR, Morell S, Faulkner GJ.

Annu Rev Genet. 2014;48:1-27. doi: 10.1146/annurev-genet-120213-092412. Epub 2014 Jul 14. Review.

PMID:
25036377
4.

L1-associated genomic regions are deleted in somatic cells of the healthy human brain.

Erwin JA, Paquola AC, Singer T, Gallina I, Novotny M, Quayle C, Bedrosian TA, Alves FI, Butcher CR, Herdy JR, Sarkar A, Lasken RS, Muotri AR, Gage FH.

Nat Neurosci. 2016 Dec;19(12):1583-1591. doi: 10.1038/nn.4388. Epub 2016 Sep 12.

5.

Ubiquitous L1 mosaicism in hippocampal neurons.

Upton KR, Gerhardt DJ, Jesuadian JS, Richardson SR, Sánchez-Luque FJ, Bodea GO, Ewing AD, Salvador-Palomeque C, van der Knaap MS, Brennan PM, Vanderver A, Faulkner GJ.

Cell. 2015 Apr 9;161(2):228-39. doi: 10.1016/j.cell.2015.03.026.

6.

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

Conti V, Pantaleo M, Barba C, Baroni G, Mei D, Buccoliero AM, Giglio S, Giordano F, Baek ST, Gleeson JG, Guerrini R.

Clin Genet. 2015 Sep;88(3):241-7. doi: 10.1111/cge.12476. Epub 2014 Oct 7.

PMID:
25091978
7.

L1 retrotransposition in neurons is modulated by MeCP2.

Muotri AR, Marchetto MC, Coufal NG, Oefner R, Yeo G, Nakashima K, Gage FH.

Nature. 2010 Nov 18;468(7322):443-6. doi: 10.1038/nature09544.

8.

Cell lineage analysis in human brain using endogenous retroelements.

Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, Yang L, Haseley P, Lehmann HS, Park PJ, Walsh CA.

Neuron. 2015 Jan 7;85(1):49-59. doi: 10.1016/j.neuron.2014.12.028.

9.

Somatic retrotransposition alters the genetic landscape of the human brain.

Baillie JK, Barnett MW, Upton KR, Gerhardt DJ, Richmond TA, De Sapio F, Brennan PM, Rizzu P, Smith S, Fell M, Talbot RT, Gustincich S, Freeman TC, Mattick JS, Hume DA, Heutink P, Carninci P, Jeddeloh JA, Faulkner GJ.

Nature. 2011 Oct 30;479(7374):534-7. doi: 10.1038/nature10531.

10.

Deep sequencing reveals low incidence of endogenous LINE-1 retrotransposition in human induced pluripotent stem cells.

Arokium H, Kamata M, Kim S, Kim N, Liang M, Presson AP, Chen IS.

PLoS One. 2014 Oct 7;9(10):e108682. doi: 10.1371/journal.pone.0108682. eCollection 2014.

11.

Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA.

Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010.

12.

Engineered LINE-1 retrotransposition in nondividing human neurons.

Macia A, Widmann TJ, Heras SR, Ayllon V, Sanchez L, Benkaddour-Boumzaouad M, Muñoz-Lopez M, Rubio A, Amador-Cubero S, Blanco-Jimenez E, Garcia-Castro J, Menendez P, Ng P, Muotri AR, Goodier JL, Garcia-Perez JL.

Genome Res. 2017 Mar;27(3):335-348. doi: 10.1101/gr.206805.116. Epub 2016 Dec 13.

13.

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.

14.

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition.

Muotri AR, Chu VT, Marchetto MC, Deng W, Moran JV, Gage FH.

Nature. 2005 Jun 16;435(7044):903-10.

15.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG.

Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329.

16.

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.

PMID:
17483097
17.

Retrotransposon Capture Sequencing (RC-Seq): A Targeted, High-Throughput Approach to Resolve Somatic L1 Retrotransposition in Humans.

Sanchez-Luque FJ, Richardson SR, Faulkner GJ.

Methods Mol Biol. 2016;1400:47-77. doi: 10.1007/978-1-4939-3372-3_4.

PMID:
26895046
18.

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA.

Cell Rep. 2014 Sep 11;8(5):1280-9. doi: 10.1016/j.celrep.2014.07.043. Epub 2014 Aug 21. Erratum in: Cell Rep. 2015 Feb 3;10(4):645.

19.

LINE-1 retrotransposition in the nervous system.

Thomas CA, Paquola AC, Muotri AR.

Annu Rev Cell Dev Biol. 2012;28:555-73. doi: 10.1146/annurev-cellbio-101011-155822. Review.

PMID:
23057747
20.

L1 Retrotransposition in Neural Progenitor Cells.

Muotri AR.

Methods Mol Biol. 2016;1400:157-63. doi: 10.1007/978-1-4939-3372-3_11.

PMID:
26895053

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