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ZCCHC3 is a stress granule zinc knuckle protein that strongly suppresses LINE-1 retrotransposition.
- Published in:
- PLoS Genetics, 2023, v. 19, n. 7, p. 1, doi. 10.1371/journal.pgen.1010795
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- Publication type:
- Article
Reflections on the history of genetic medicine at Johns Hopkins University.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3224, doi. 10.1002/ajmg.a.62246
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- Publication type:
- Article
A long-term study of AAV gene therapy in dogs with hemophilia A identifies clonal expansions of transduced liver cells.
- Published in:
- Nature Biotechnology, 2021, v. 39, n. 1, p. 47, doi. 10.1038/s41587-020-0741-7
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- Publication type:
- Article
Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis.
- Published in:
- Mobile DNA, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13100-018-0138-z
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- Publication type:
- Article
Fifty years in human genetics--a career retrospective.
- Published in:
- FASEB Journal, 2017, v. 31, n. 9, p. 3712, doi. 10.1096/fj.201700502RR
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- Publication type:
- Article
Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 8, p. 4619, doi. 10.1093/nar/gkx178
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- Publication type:
- Article
Reading LINEs within the cocaine addicted brain.
- Published in:
- Brain & Behavior, 2017, v. 7, n. 5, p. n/a, doi. 10.1002/brb3.678
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- Publication type:
- Article
Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 943, doi. 10.1002/humu.23027
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- Publication type:
- Article
25 Years of Human Mutation.
- Published in:
- Human Mutation, 2016, v. 37, n. 6, p. 503, doi. 10.1002/humu.22988
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- Publication type:
- Article
Roles for retrotransposon insertions in human disease.
- Published in:
- Mobile DNA, 2016, v. 7, p. 1, doi. 10.1186/s13100-016-0065-9
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- Publication type:
- Article
In Memoriam: Richard G.H. Cotton (1940-2015).
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 741, doi. 10.1002/humu.22826
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- Publication type:
- Article
A New Spin on Digenic Inheritance: Retrotransposition in Rotor Syndrome.
- Published in:
- 2015
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- Publication type:
- Other
Processed pseudogene insertions in somatic cells.
- Published in:
- Mobile DNA, 2014, v. 5, n. 1, p. 1, doi. 10.1186/1759-8753-5-20
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- Publication type:
- Article
Enrichment of processed pseudogene transcripts in L1-ribonucleoprotein particles.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 18, p. 3730, doi. 10.1093/hmg/ddt225
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- Publication type:
- Article
<i>In Vitro</i> Screening for Compounds That Enhance Human L1 Mobilization.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074629
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- Publication type:
- Article
Mapping the LINE1 ORF1 protein interactome reveals associated inhibitors of human retrotransposition.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 15, p. 7401, doi. 10.1093/nar/gkt512
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- Publication type:
- Article
MOV10 RNA Helicase Is a Potent Inhibitor of Retrotransposition in Cells.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 10, p. 1, doi. 10.1371/journal.pgen.1002941
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- Publication type:
- Article
In memory of David L. Rimoin, MD, PhD (1936-2012).
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. vi, doi. 10.1002/humu.22151
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- Publication type:
- Article
Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 369, doi. 10.1002/humu.21663
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- Publication type:
- Article
Retrotransposition of marked SVA elements by human L1s in cultured cells.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 17, p. 3386, doi. 10.1093/hmg/ddr245
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- Publication type:
- Article
Efficacy and Safety of Long-term Prophylaxis in Severe Hemophilia A Dogs Following Liver Gene Therapy Using AAV Vectors.
- Published in:
- Molecular Therapy, 2011, v. 19, n. 3, p. 442, doi. 10.1038/mt.2010.240
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- Publication type:
- Article
Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1712, doi. 10.1093/hmg/ddq048
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- Publication type:
- Article
In memoriam: Victor A. McKusick (1921-2008).
- Published in:
- Human Mutation, 2008, v. 29, n. 10, p. 1169, doi. 10.1002/humu.20890
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- Publication type:
- Article
L1 retrotransposition can occur early in human embryonic development.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 13, p. 1587, doi. 10.1093/hmg/ddm108
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- Publication type:
- Article
Progress in understanding the biology of the human mutagen LINE-1.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 527, doi. 10.1002/humu.20486
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- Publication type:
- Article
Metabolic phenotype of methylmalonic acidemia in mice andhumans: the role of skeletal muscle.
- Published in:
- BMC Medical Genetics, 2007, v. 8, p. 64, doi. 10.1186/1471-2350-8-64
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- Publication type:
- Article
L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells.
- Published in:
- Nature Structural & Molecular Biology, 2006, v. 13, n. 9, p. 763, doi. 10.1038/nsmb1141
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- Publication type:
- Article
Toward a Human Variome Project.
- Published in:
- Human Mutation, 2005, v. 26, n. 6, p. 499, doi. 10.1002/humu.20272
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- Publication type:
- Article
Genetics: LINEs in mind.
- Published in:
- Nature, 2005, v. 435, n. 7044, p. 890, doi. 10.1038/435890a
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- Publication type:
- Article
1093. An Adenovirus-Retrotransposon Hybrid Vector Achieves Stable Transformation of Quiescent and Primary Human Somatic Cells
- Published in:
- 2005
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- Publication type:
- Abstract
L1 retrotransposon-mediated stable gene silencing.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 6, p. e57, doi. 10.1093/nar/gni056
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- Publication type:
- Article
Two independent retrotransposon insertions at the same site within the coding region of BTK.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 324, doi. 10.1002/humu.9321
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- Publication type:
- Article
A potential role for the nucleolus in L1 retrotransposition.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 10, p. 1041, doi. 10.1093/hmg/ddh118
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- Publication type:
- Article
High-capacity adenovirus/ retrotransposon hybrid vectors for efficient and stable gene transfer
- Published in:
- 2004
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- Publication type:
- Abstract
More active human L1 retrotransposons produce longer insertions.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 2, p. 502, doi. 10.1093/nar/gkh202
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- Publication type:
- Article
An important role for RUNX3 in human L1 transcription and retrotransposition.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 16, p. 4929, doi. 10.1093/nar/gkg663
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- Publication type:
- Article
Interaction of P-selectin and PSGL-1 generates microparticles that correct hemostasis in a mouse model of hemophilia A.
- Published in:
- Nature Medicine, 2003, v. 9, n. 8, p. 1020, doi. 10.1038/nm899
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- Publication type:
- Article
A higher-impact Human Mutation launches web-based submission/peer review and EarlyView rapid publication.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 1, doi. 10.1002/humu.10162
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- Publication type:
- Article
A mouse model of human L1 retrotransposition.
- Published in:
- Nature Genetics, 2002, v. 32, n. 4, p. 655, doi. 10.1038/ng1022
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- Publication type:
- Article
Human Mutation: The official journal of the Human Genome Variation Society (HGVS).
- Published in:
- Human Mutation, 2002, v. 19, n. 1, p. 1, doi. 10.1002/humu.10037
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- Publication type:
- Article
In memoriam.
- Published in:
- Human Mutation, 2001, v. 18, n. 6, p. 461, doi. 10.1002/humu.1223
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- Publication type:
- Article
Corrigendum An actively retrotransposing, novel subfamily of mouse L1 elements.
- Published in:
- 2001
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- Publication type:
- Erratum
MOBILE ELEMENTS AND THE HUMAN GENOME.
- Published in:
- Nature Reviews Genetics, 2000, v. 1, n. 2, p. 134, doi. 10.1038/35038572
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- Publication type:
- Article
VARIATION, DATABASES, and DISEASE: New directions for Human Mutation.
- Published in:
- Human Mutation, 2000, v. 16, n. 2, p. 97, doi. 10.1002/1098-1004(200008)16:2<97::AID-HUMU1>3.0.CO;2-5
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- Publication type:
- Article
Determination of L1 retrotransposition kinetics in cultured cells.
- Published in:
- Nucleic Acids Research, 2000, v. 28, n. 6, p. 1418, doi. 10.1093/nar/28.6.1418
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- Publication type:
- Article
Overview: Progress toward a new millennium of medical genetics.
- Published in:
- Human Mutation, 2000, v. 15, n. 1, p. 2, doi. 10.1002/(SICI)1098-1004(200001)15:1<2::AID-HUMU2>3.0.CO;2-Y
- By:
- Publication type:
- Article
An estimated frequency of endogenous insertional mutations in humans.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 130, doi. 10.1038/9638
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- Publication type:
- Article
Rapid amplification of a retrotransposon subfamily is evolving the mouse genome.
- Published in:
- Nature Genetics, 1998, v. 20, n. 3, p. 288, doi. 10.1038/3104
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- Publication type:
- Article
Independent occurrence of the novel Arg<sup>2163</sup> to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU21>3.0.CO;2-X
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- Publication type:
- Article