Mobile DNA in Health and Disease

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891

The origin and behavior of mutable loci in maize

McClintock, B. (1950) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.36.6.344 · Cited by 1,752

The impact of retrotransposons on human genome evolution

Cordaux, R., & Batzer, M. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2640 · Cited by 1,692

Genetic Mapping in Human Disease

Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452

Regulatory activities of transposable elements: from conflicts to benefits

Chuong, E. B., Elde, N. C., & Feschotte, C. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.139 · Cited by 1,408

PIWI-interacting small RNAs: the vanguard of genome defence

Siomi, M. C., Sato, K., Pezic, D., & Aravin, A. A. (2011) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3089 · Cited by 1,319

Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L

Bourc’his, D., & Bestor, T. H. (2004) · Nature · doi:10.1038/nature02886 · Cited by 1,279

Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: a mechanism for non-LTR retrotransposition

Luan, D. D., Korman, M. H., Jakubczak, J. L., & Eickbush, T. H. (1993) · Cell · doi:10.1016/0092-8674(93)90078-5 · Cited by 1,173

Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition

Feng, Q., Moran, J. V., Kazazian, H. H., & Boeke, J. D. (1996) · Cell · doi:10.1016/s0092-8674(00)81997-2 · Cited by 1,139

Human Endogenous Retrovirus Type W Envelope from Multiple Sclerosis Demyelinating Lesions Shows Unique Solubility and Antigenic Characteristics

Charvet, B., Pierquin, J., Brunel, J., Gorter, R. P., Quétard, C., Horvat, B., Amor, S., Portoukalian, J., & Perron, H. (2021) · Virologica Sinica · doi:10.1007/s12250-021-00372-0 · Cited by 39

Themes and variations on piRNA-guided transposon control

Loubalová, Z., Κωνσταντινίδου, Π., & Haase, A. D. (2023) · Mobile DNA · doi:10.1186/s13100-023-00298-2 · Cited by 37

Evidence of Aberrant Immune Response by Endogenous Double‐Stranded RNAs: Attack from Within

Kim, S., Ku, Y., Ku, J., & Kim, Y. (2019) · BioEssays · doi:10.1002/bies.201900023 · Cited by 34

Sea Urchin as a Universal Model for Studies of Gene Networks

Adonin, L., Drozdov, A. L., & Barlev, N. A. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2020.627259 · Cited by 38

Condensation of LINE-1 is critical for retrotransposition

Sil, S., Keegan, S., Ettefa, F., Denes, L. T., Boeke, J. D., & Holt, L. J. (2023) · eLife · doi:10.7554/elife.82991 · Cited by 39

Cellular senescence and neurodegeneration

Holloway, K., Neherin, K., Dam, K. U., & Zhang, H. (2023) · Human Genetics · doi:10.1007/s00439-023-02565-x · Cited by 40

Angiotensin–Converting Enzyme (ACE) 1 Gene Polymorphism and Phenotypic Expression of COVID-19 Symptoms

Yamamoto, N., Nishida, N., Yamamoto, R., Gojobori, T., Shimotohno, K., Mizokami, M., & Ariumi, Y. (2021) · Genes · doi:10.3390/genes12101572 · Cited by 36

LINE-1 retrotransposons contribute to mouse PV interneuron development

Bodea, G. O., Botto, J. M., Ferreiro, M. E., Sanchez-Luque, F. J., Barreda, J. D. L. R., Rasmussen, J., Rahman, M. A., Fenlon, L. R., Jansz, N., Gubert, C., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01650-2 · Cited by 43

Assessment of piRNA biogenesis and function in testicular germ cell tumors and their precursor germ cell neoplasia in situ

Gainetdinov, I. V., Skvortsova, Y. V., Kondratieva, S. A., Klimov, A., Tryakin, A. A., & Azhikina, T. L. (2018) · BMC Cancer · doi:10.1186/s12885-017-3945-6 · Cited by 35

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

Zhang, Q., Yang, X., Wang, J., Li, J., Wu, Q., Wen, Y., Zhao, Y., Zhang, X., He, Y., Wu, X., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0348-2 · Cited by 35

An introduction to PIWI-interacting RNAs (piRNAs) in the context of metazoan small RNA silencing pathways

Haase, A. D. (2022) · RNA Biology · doi:10.1080/15476286.2022.2132359 · Cited by 34

The interferon stimulated gene-encoded protein HELZ2 inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon induction

Luqman-Fatah, A., Watanabe, Y., Uno, K., Ishikawa, F., Moran, J. V., & Miyoshi, T. (2023) · Nature Communications · doi:10.1038/s41467-022-35757-6 · Cited by 46

Damage-Fitness Model: the missing piece in integrative stress models

Wada, H. (2019) · Stress · doi:10.1080/10253890.2019.1614556 · Cited by 33

The Simons Genome Diversity Project: A Global Analysis of Mobile Element Diversity

Watkins, W. S., Feusier, J. E., Thomas, J., Goubert, C., Mallick, S., & Jorde, L. B. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa086 · Cited by 32

A retroviral link to vertebrate myelination through retrotransposon-RNA-mediated control of myelin gene expression

Ghosh, T., Almeida, R., Zhao, C., Mannioui, A., Martin, E., Fleet, A., Chen, C. Z.-Y., Assinck, P., Ellams, S., González, G. A., et al. (2024) · Cell · doi:10.1016/j.cell.2024.01.011 · Cited by 39

RNA Editing and Retrotransposons in Neurology

Krestel, H. E., & Meier, J. C. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00163 · Cited by 32

Heterogeneity of transposon expression and activation of the repressive network in human fetal germ cells

Reznik, B. N., Cincotta, S. A., Jaszczak, R. G., Mateo, L. J., Shen, J., Cao, M., Baskin, L. S., Ye, P., An, W., & Laird, D. J. (2019) · Development · doi:10.1242/dev.171157 · Cited by 32

Piwi reduction in the aged niche eliminates germline stem cells via Toll-GSK3 signaling

Lin, K., Wang, W., Lin, C., Rastegari, E., Su, Y., Chang, Y.-T., Liao, Y., Chang, Y.-C., Pi, H., Yu, B.-Y., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16858-6 · Cited by 30

Short interspersed nuclear element (SINE)-mediated post-transcriptional effects on human and mouse gene expression: SINE-UP for active duty

Maquat, L. E. (2020) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2019.0344 · Cited by 30

A multi-omics view of the complex mechanism of vascular calcification

Qian, Y., Li, L., Sun, Z., Liu, J., Yuan, W., & Wang, Z. (2021) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2020.111192 · Cited by 29

Melatonin and Prostate Cancer: Anti-tumor Roles and Therapeutic Application

Megerian, M. F., Kim, J., Badreddine, J., Hong, S. H., Ponsky, L. E., Shin, J. I., & Ghayda, R. A. (2022) · Aging and Disease · doi:10.14336/ad.2022.1010 · Cited by 31

Transposable Elements Co-Option in Genome Evolution and Gene Regulation

Gasparotto, E., Burattin, F. V., Gioia, V. D., Panepuccia, M., Ranzani, V., Marasca, F., & Bodega, B. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032610 · Cited by 32

SARS-CoV-2 infection as a potential risk factor for the development of cancer

Ogarek, N., Oboza, P., Olszanecka‐Glinianowicz, M., & Kocełak, P. (2023) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2023.1260776 · Cited by 31

Insertion sequence elements-mediated structural variations in bacterial genomes

Nzabarushimana, É., & Tang, H. (2018) · Mobile DNA · doi:10.1186/s13100-018-0134-3 · Cited by 30

Heterogeneity of primordial germ cells

Nguyen, D. H., Jaszczak, R. G., & Laird, D. J. (2019) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2019.04.009 · Cited by 31

Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline

Hattori, A., & Fukami, M. (2020) · Cytogenetic and Genome Research · doi:10.1159/000507837 · Cited by 29

Cellular abundance shapes function in piRNA-guided genome defensePreprint

Genzor, P., Κωνσταντινίδου, Π., Stoyko, D., Manzourolajdad, A., Andrews, C. M., Elchert, A. R., Stathopoulos, C., & Haase, A. D. (2021) · Genome Research · doi:10.1101/gr.275478.121 · Cited by 28

Reactivation of retrotransposable elements is associated with environmental stress and ageing

Valle, F. D., Reddy, P., Aguirre-Vázquez, A., & Belmonte, J. C. I. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-025-00829-y · Cited by 27

Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

Tavares, E. S., Tang, C. Y., Vig, A., Li, S., Billingsley, G. D., Sung, W. W. L., Vincent, A., Thiruvahindrapuram, B., & Héon, E. (2018) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.521 · Cited by 27

Lactobacillus rhamnosus LB1 Alleviates Enterotoxigenic Escherichia coli-Induced Adverse Effects in Piglets by Improving Host Immune Response and Anti-Oxidation Stress and Restoring Intestinal Integrity

Wu, T., Shi, Y., Zhang, Y., Zhang, M., Zhang, L., Ma, Z., Zhao, D., Wang, L., BinYing, D., Hou, Y., et al. (2021) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2021.724401 · Cited by 31

Cancer Occurrence as the Upcoming Complications of COVID-19

Rahimmanesh, I., Shariati, L., Dana, N., Esmaeili, Y., Vaseghi, G., & Javanmard, S. H. (2022) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.813175 · Cited by 27

Geography-Dependent Horizontal Gene Transfer from Vertebrate Predators to Their Prey

Kambayashi, C., Kakehashi, R., Sato, Y., Mizuno, H., Tanabe, H., Rakotoarison, A., Künzel, S., Furuno, N., Ohshima, K., Kumazawa, Y., et al. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac052 · Cited by 27

Post-transcriptional regulation of LINE-1 retrotransposition by AID/APOBEC and ADAR deaminases

Orecchini, E., Frassinelli, L., Galardi, S., Ciafrè, S. A., & Michienzi, A. (2018) · Chromosome Research · doi:10.1007/s10577-018-9572-5 · Cited by 29

LINE- andAlu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Szafrański, P., Kośmider, E., Liu, Q., Karolak, J. A., Currie, L. B., Parkash, S., Kahler, S. G., Roeder, E. R., Littlejohn, R. O., DeNapoli, T. S., et al. (2018) · Human Mutation · doi:10.1002/humu.23608 · Cited by 27

The impact of transposable element activity on therapeutically relevant human stem cells

Schumann, G. G., Fuchs, N. V., Tristán-Ramos, P., Sebe, A., Ivics, Z., & Heras, S. R. (2019) · Mobile DNA · doi:10.1186/s13100-019-0151-x · Cited by 28

SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome

Yamamoto, G., Miyabe, I., Tanaka, K., Kakuta, M., Watanabe, M., Kawakami, S., Ishida, H., & Akagi, K. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00779-5 · Cited by 26

De novo unbalanced translocations have a complex history/aetiology

Bonaglia, M. C., Kurtas, N. E., Errichiello, E., Bertuzzo, S., Beri, S., Mehrjouy, M. M., Provenzano, A., Vergani, D., Pecile, V., Novara, F., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1941-9 · Cited by 26

Jump-starting life: balancing transposable element co-option and genome integrity in the developing mammalian embryo

Oomen, M. E., & Torres‐Padilla, M. (2024) · EMBO Reports · doi:10.1038/s44319-024-00118-5 · Cited by 28

Stem cell activity-coupled suppression of endogenous retrovirus governs adult tissue regeneration

Lyu, Y., Kim, S., Humphrey, E., Nayak, R., Guan, Y., Liang, Q., Kim, K. H., Tan, Y., Dou, J., Sun, H., et al. (2024) · Cell · doi:10.1016/j.cell.2024.10.007 · Cited by 31

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

de la Morena‐Barrio, B., Stephens, J. C., de la Morena‐Barrio, M. E., Stefanucci, L., Padilla, J., Miñano, A., Gleadall, N., Garcı́a, J. L., Fernández, M. F. L., Morange, P., et al. (2022) · Thrombosis and Haemostasis · doi:10.1055/s-0042-1749345 · Cited by 25

Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells

Gerdes, P., Lim, S. M., Ewing, A. D., Larcombe, M. R., Chan, D. L.-K., Sanchez-Luque, F. J., Walker, L., Carleton, A. L., James, C., Knaupp, A. S., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-35180-x · Cited by 24

Genomic structural variation: A complex but important driver of human evolution

Soto, D. C., Uribe‐Salazar, J. M., Shew, C. J., Sekar, A., McGinty, S. P., & Dennis, M. Y. (2023) · American Journal of Biological Anthropology · doi:10.1002/ajpa.24713 · Cited by 25

A concerted increase in readthrough and intron retention drives transposon expression during aging and senescence

Pabis, K., Barardo, D., Sirbu, O., Selvarajoo, K., Gruber, J., & Kennedy, B. K. (2024) · eLife · doi:10.7554/elife.87811.3 · Cited by 25

Dynamic Methylation of an L1 Transduction Family during Reprogramming and Neurodifferentiation

Salvador‐Palomeque, C., Sanchez-Luque, F. J., Fortuna, P. R. J., Ewing, A. D., Wolvetang, E. J., Richardson, S. R., & Faulkner, G. J. (2019) · Molecular and Cellular Biology · doi:10.1128/mcb.00499-18 · Cited by 28

SAFB restricts contact domain boundaries associated with L1 chimeric transcription

Hong, Y., Bie, L., Zhang, T., Yan, X., Jin, G., Chen, Z., Wang, Y., Li, X., Pei, G., Zhang, Y., et al. (2024) · Molecular Cell · doi:10.1016/j.molcel.2024.03.021 · Cited by 27

Transcriptional Regulation of Endogenous Retroviruses and Their Misregulation in Human Diseases

Zhang, Q., Pan, J., Cong, Y., & Mao, J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231710112 · Cited by 25

Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation

Torre, D., Fstkchyan, Y. S., Ho, J., Cheon, Y., Patel, R. S., DeGrace, E. J., Mzoughi, S., Schwarz, M. C., Mohammed, K., Seo, J.-S., et al. (2023) · Molecular Cell · doi:10.1016/j.molcel.2023.10.036 · Cited by 26

Promoter methylation, transcription, and retrotransposition of LINE-1 in colorectal adenomas and adenocarcinomas

Shademan, M., Zare, K., Zahedi, M., Mozaffari, H. M., Hosseini, H. B., Ghaffarzadegan, K., Goshayeshi, L., & Dehghani, H. (2020) · Cancer Cell International · doi:10.1186/s12935-020-01511-5 · Cited by 23

As3MT-mediated SAM consumption, which inhibits the methylation of histones and LINE1, is involved in arsenic-induced male reproductive damage

Wu, L., Li, H., Ye, F., Wei, Y., Li, W., Xu, Y., Xia, H., Zhang, J., Guo, L., Zhang, G., et al. (2022) · Environmental Pollution · doi:10.1016/j.envpol.2022.120090 · Cited by 21

A concerted increase in readthrough and intron retention drives transposon expression during aging and senescence

Pabis, K., Barardo, D., Sirbu, O., Selvarajoo, K., Gruber, J., & Kennedy, B. K. (2023) · eLife · doi:10.7554/elife.87811 · Cited by 43

The Killer’s Web: Interconnection between Inflammation, Epigenetics and Nutrition in Cancer

Mecca, M., Picerno, S., & Cortellino, S. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25052750 · Cited by 24

Retroelement—Linked Transcription Factor Binding Patterns Point to Quickly Developing Molecular Pathways in Human Evolution

Nikitin, D. M., Garazha, A., Sorokin, M., Penzar, D., Tkachev, V., Markov, A. V., Гайфуллин, Н., Borger, P., Poltorak, A., & Buzdin, A. A. (2019) · Cells · doi:10.3390/cells8020130 · Cited by 24

Long INterspersed element‐1 mobility as a sensor of environmental stresses

Re, B. D., & Giorgi, G. (2020) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22366 · Cited by 25

Stress, Adaptation, and the Deep Genome: Why Transposons Matter

Hunter, R. G. (2020) · Integrative and Comparative Biology · doi:10.1093/icb/icaa050 · Cited by 21

Mutagenesis of human genomes by endogenous mobile elements on a population scalePreprint

Chuang, N. T., Gardner, E. J., Terry, D. M., Crabtree, J., Mahurkar, A., Rivell, G. L., Hong, C. C., Perry, J. A., & Devine, S. E. (2021) · Genome Research · doi:10.1101/gr.275323.121 · Cited by 25

Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis

Pfaff, A. L., Lopez, A. I., Iacoangeli, A., Bubb, V. J., Smith, B. N., Troakes, C., Alahmady, N. F., Kõks, S., Schumann, G. G., Al‐Chalabi, A., et al. (2020) · Molecular Brain · doi:10.1186/s13041-020-00694-2 · Cited by 21

LINE1-Mediated Reverse Transcription and Genomic Integration of SARS-CoV-2 mRNA Detected in Virus-Infected but Not in Viral mRNA-Transfected Cells

Zhang, L., Bisht, P., Flamier, A., Barrasa, M. I., Friesen, M., Richards, A. L., Hughes, S. H., & Jaenisch, R. (2023) · Viruses · doi:10.3390/v15030629 · Cited by 22

scNanoSeq-CUT&Tag: a single-cell long-read CUT&Tag sequencing method for efficient chromatin modification profiling within individual cells

Li, Q., Guo, Y., Wu, Z., Xu, X., Zhen-huan, J., Qi, S., Liu, Z., Wen, L., & Tang, F. (2024) · Nature Methods · doi:10.1038/s41592-024-02453-w · Cited by 20

Heritable L1 Retrotransposition Events During Development: Understanding Their Origins

Richardson, S. R., & Faulkner, G. J. (2018) · BioEssays · doi:10.1002/bies.201700189 · Cited by 20

Structural variations in livestock genomes and their associations with phenotypic traits: a review

Chen, Y., Khan, M. Z., Wang, X., Liang, H., Ren, W., Kou, X., Liu, X., Chen, W., Peng, Y., & Wang, C. (2024) · Frontiers in Veterinary Science · doi:10.3389/fvets.2024.1416220 · Cited by 20

The “missing heritability”—Problem in psychiatry: Is the interaction of genetics, epigenetics and transposable elements a potential solution?

van Calker, D., & Serchov, T. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.03.019 · Cited by 19

LINE-1 repression in Epstein–Barr virus-associated gastric cancer through viral–host genome interaction

Zhang, M., Sun, W., You, X., Xu, D., Wang, L., Yang, J., Li, E., & He, S. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad203 · Cited by 19

Exosomes transmit retroelement RNAs to drive inflammation and immunosuppression in Ewing SarcomaPreprint

Evdokimova, V. E., Ruzanov, P., Gassmann, H., Zaidi, S. H. E., Peltekova, V. D., Heisler, L. E., McPherson, J. D., Orlic-Milacic, M., Specht, K., Steiger, K., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/806851 · Cited by 19

Regulation and function of R-loops at repetitive elements

Gambelli, A., Ferrando, A., Boncristiani, C., & Schoeftner, S. (2023) · Biochimie · doi:10.1016/j.biochi.2023.08.013 · Cited by 18

A comparative roadmap of PIWI-interacting RNAs across seven species reveals insights into de novo piRNA-precursor formation in mammals

Κωνσταντινίδου, Π., Loubalová, Z., Ahrend, F., Friman, A., Almeida, M. V., Poulet, A., Horvat, F., Wang, Y., Losert, W., Lorenzi, H., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114777 · Cited by 20

Pan-cancer multi-omic model of LINE-1 activity reveals locus heterogeneity of retrotransposition efficiency

Solovyov, A., Behr, J. M., Hoyos, D., Banks, E., Drong, A., Thornlow, B. P., Zhong, J. Z., Garcia-Rivera, E., McKerrow, W., Chu, C., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-57271-1 · Cited by 20

Transposons, stress and the functions of the deep genome

Bartlett, A. A., & Hunter, R. G. (2018) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2018.03.002 · Cited by 18

Single-cell omics sequencing technologies: the long-read generation

Wen, L., & Tang, F. (2025) · Trends in Genetics · doi:10.1016/j.tig.2025.07.012 · Cited by 18

Development of infrastructure for a systemic multidisciplinary approach to study aging in retired sled dogs

Fleyshman, D. I., Wakshlag, J. J., Huson, H. J., Loftus, J. P., Olby, N. J., Brodsky, L., Gudkov, A. V., & Andrianova, E. L. (2021) · Aging · doi:10.18632/aging.203600 · Cited by 18

Transposon control as a checkpoint for tissue regeneration

Angileri, K. M., Bagia, N. A., & Feschotte, C. (2022) · Development · doi:10.1242/dev.191957 · Cited by 15

Human LINE-1 retrotransposons: impacts on the genome and regulation by host factors

Luqman-Fatah, A., & Miyoshi, T. (2022) · Genes & Genetic Systems · doi:10.1266/ggs.22-00038 · Cited by 20

Impact of retrotransposon protein L1 ORF1p expression on oncogenic pathways in hepatocellular carcinoma: the role of cytoplasmic PIN1 upregulation

Zadran, B., Sudhindar, P. D., Wainwright, D., Bury, Y. A., Luli, S., Howarth, R., McCain, M. V., Watson, R., Huet, H., Palinkas, F., et al. (2023) · British Journal of Cancer · doi:10.1038/s41416-023-02154-9 · Cited by 17

Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome

Batista, R. L., YAMAGUCHI, K., Rodrigues, A. D. S., Nishi, M. Y., Goodier, J. L., Carvalho, L. R. S., Domenice, S., Costa, E. M. F., Kazazian, H. H., & Mendonca, B. B. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2019-00144 · Cited by 18

Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumoursPreprint

Rodríguez–Martín, B., Álvarez, E. G., Baez‐Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Souto, D. G., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/179705 · Cited by 17

Elevated L1 expression in ataxia telangiectasia likely explained by an RNA-seq batch effect

Faulkner, G. J. (2023) · Neuron · doi:10.1016/j.neuron.2023.02.007 · Cited by 17

Evolution of Repetitive Elements, Their Roles in Homeostasis and Human Disease, and Potential Therapeutic Applications

Snowbarger, J. M., Koganti, P., & Spruck, C. (2024) · Biomolecules · doi:10.3390/biom14101250 · Cited by 14

Conserved and divergent DNA recognition specificities and functions of R2 retrotransposon N-terminal domains

Lee, R. J., Horton, C. A., Treeck, B. V., McIntyre, J. J. R., & Collins, K. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114239 · Cited by 16

Chromosomal rearrangements and instability caused by LINE-1 retrotranspositionPreprint

Mendez‐Dorantes, C., Zeng, X., Karlow, J. A., Schofield, P., Turner, S., Leventhal, M. J., Kalinowski, J. C., Wang, J., Zumalave, S., Tubio, J. M. C., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.14.628481 · Cited by 18

Silencing by the HUSH Epigenetic Transcriptional Repressor Complex

Lehner, P. J. (2025) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-020425-045352 · Cited by 20

Uncovering the role of LINE-1 in the evolution of lung adenocarcinoma

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