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

Regulatory activities of transposable elements: from conflicts to benefits

Chuong, E. B., Elde, N. C., & Feschotte, C. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2016.139 · Cited by 1,489

Genetic Mapping in Human Disease

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

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

Advances in PIWI-piRNA function in female reproduction in mammals

Lv, X., Zhang, H., & Wu, L. (2024) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2024195 · Cited by 10

The reverse transcriptase domain of prime editors contributes to DNA repair in mammalian cells

Zheng, C., Zhang, G., Dean, L. J., Sontheimer, E. J., & Xue, W. (2025) · Nature Biotechnology · doi:10.1038/s41587-025-02568-1 · Cited by 14

The L1-ORF1p coiled coil enables formation of a tightly compacted nucleic acid-bound complex that is associated with retrotransposition

Cashen, B. A., Naufer, M. N., Morse, M., Jones, C. E., Williams, M. C., & Furano, A. V. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac628 · Cited by 11

Inhibition of LINE-1 retrotransposition represses telomere reprogramming during mouse 2-cell embryo development

Wang, F., Chamani, I. J., Luo, D., Chan, K., Navarro, P. A., & Keefe, D. L. (2021) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-021-02331-w · Cited by 10

Out of LINE: Transposons, genome integrity, and neurodegeneration

Dumitrache, L. C., & McKinnon, P. J. (2022) · Neuron · doi:10.1016/j.neuron.2022.09.026 · Cited by 9

IS21 family transposase cleaved donor complex traps two right-handed superhelical crossings

Spínola‐Amilibia, M., Araújo‐Bazán, L., de la Gándara, Á., Berger, J. M., & Arias‐Palomo, E. (2023) · Nature Communications · doi:10.1038/s41467-023-38071-x · Cited by 10

Non‐canonical nitric oxide signalling and DNA methylation: Inflammation induced epigenetic alterations and potential drug targets

Switzer, C. (2023) · British Journal of Pharmacology · doi:10.1111/bph.16302 · Cited by 10

Molecular basis for transposase activation by a dedicated AAA+ ATPase

de la Gándara, Á., Spínola‐Amilibia, M., Araújo‐Bazán, L., Núñez‐Ramírez, R., Berger, J. M., & Arias‐Palomo, E. (2024) · Nature · doi:10.1038/s41586-024-07550-6 · Cited by 10

Functional Bidirectionality of ERV-Derived Long Non-Coding RNAs in Humans

Song, Y., Wen, H., Zhai, X., Jia, L., & Li, L. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms251910481 · Cited by 10

L1-ORF1p nucleoprotein can rapidly assume distinct conformations and simultaneously bind more than one nucleic acid

Cashen, B. A., Naufer, M. N., Morse, M., McCauley, M. J., Rouzina, I. F., Jones, C. E., Furano, A. V., & Williams, M. C. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae1141 · Cited by 10

Transposable elements in health and disease: Molecular basis and clinical implications

Hong, Y., & Liu, N. (2025) · Chinese Medical Journal · doi:10.1097/cm9.0000000000003775 · Cited by 15

The Developmental Gene Hypothesis for Punctuated Equilibrium: Combined Roles of Developmental Regulatory Genes and Transposable Elements

Casanova, M., & Konkel, M. K. (2020) · BioEssays · doi:10.1002/bies.201900173 · Cited by 12

The RNA editing enzyme ADAR2 restricts L1 mobility

Frassinelli, L., Orecchini, E., Alwardat, S., Tripodi, M., Mancone, C., Doria, M., Galardi, S., Ciafrè, S. A., & Michienzi, A. (2021) · RNA Biology · doi:10.1080/15476286.2021.1940020 · Cited by 10

Long-term voluntary wheel running effects on markers of long interspersed nuclear element-1 in skeletal muscle, liver, and brain tissue of female rats

Osburn, S. C., Mesquita, P. H. C., Neal, F. K., Rumbley, M. N., Holmes, M. T., Ruple, B. A., Mobley, C. B., Brown, M. D., McCullough, D. J., Kavazis, A. N., et al. (2022) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00234.2022 · Cited by 11

Retrotransposon insertions associated with risk of neurologic and psychiatric diseases

Ahn, H. W., Worman, Z., Lechsinska, A., Payer, L. M., Wang, T., Malik, N., Li, W., Burns, K. H., Nath, A., & Levin, H. L. (2022) · EMBO Reports · doi:10.15252/embr.202255197 · Cited by 10

The Regulation and Immune Signature of Retrotransposons in Cancer

Alkailani, M. I., & Gibbings, D. (2023) · Cancers · doi:10.3390/cancers15174340 · Cited by 10

Decoding Human Biology and Disease Using Single-Cell Omics Technologies

Shi, Q., Chen, X., & Zhang, Z. (2023) · Genomics Proteomics & Bioinformatics · doi:10.1016/j.gpb.2023.06.003 · Cited by 11

Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing

Cuenca-Guardiola, J., de la Morena‐Barrio, B., Manzano, E. N., Stevens, J., Ouwehand, W. H., Gleadall, N., Corral, J., & Fernández‐Breis, J. T. (2023) · iScience · doi:10.1016/j.isci.2023.108214 · Cited by 11

Mobile element insertions and associated structural variants in longitudinal breast cancer samples

Steely, C. J., Russell, K. L., Feusier, J. E., Qiao, Y., Tavtigian, S. V., Marth, G., & Jorde, L. B. (2021) · Scientific Reports · doi:10.1038/s41598-021-92444-0 · Cited by 10

No evidence of human genome integration of SARS-CoV-2 found by long-read DNA sequencingPreprint

Smits, N., Rasmussen, J., Bodea, G. O., Amarilla, A. A., Gerdes, P., Sanchez-Luque, F. J., Ajjikuttira, P., Modhiran, N., Liang, B., Faivre, J., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.05.28.446065 · Cited by 10

From the genome's perspective: Bearing somatic retrotransposition to leverage the regulatory potential of L1 RNAs

Mangoni, D., Mazzetti, A., Ansaloni, F., Simi, A., Tartaglia, G. G., Pandolfini, L., Gustincich, S., & Sanges, R. (2024) · BioEssays · doi:10.1002/bies.202400125 · Cited by 9

The 5′ truncation of retrotransposon L1: a process of genome integrity

Levin, H. L., Lee, S., & Anand, A. (2025) · Genetics · doi:10.1093/genetics/iyaf202 · Cited by 13

Sequence-specific retrotransposition of 28S rDNA-specific LINE R2Ol in human cells

Su, Y.-T., Nichuguti, N., Kuroki-Kami, A., & Fujiwara, H. (2019) · RNA · doi:10.1261/rna.072512.119 · Cited by 9

Robust expression of LINE-1 retrotransposon encoded proteins in oral squamous cell carcinoma

Mukherjee, K., Sur, D., Singh, A., Rai, S., Das, N., Narindi, S., Sekar, R., Dhingra, V., Jat, B., Balraam, K. V. V., et al. (2021) · BMC Cancer · doi:10.1186/s12885-021-08174-z · Cited by 9

Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis

Savage, A. L., Iacoangeli, A., Schumann, G. G., Rubio-Roldán, A., Garcia-Perez, J. L., Khleifat, A. A., Kõks, S., Bubb, V. J., Al‐Chalabi, A., & Quinn, J. P. (2022) · Gene · doi:10.1016/j.gene.2022.146799 · Cited by 9

A Case–Control Study by ddPCR of ALU 260/111 and LINE-1 266/97 Copy Number Ratio in Circulating Cell-Free DNA in Plasma Revealed LINE-1 266/97 as a Potential Biomarker for Early Breast Cancer Detection

Bortul, M., Giudici, F., Tierno, D., Generali, D., Scomersi, S., Grassi, G., Bottin, C., Cappelletti, M. R., Zanconati, F., & Scaggiante, B. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24108520 · Cited by 9

Genomic Indexing by Somatic Gene Recombination of mRNA/ncRNA – Does It Play a Role in Genomic Mosaicism, Memory Formation, and Alzheimer’s Disease?

Ueberham, U., & Arendt, T. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00370 · Cited by 9

A genome-wide strategy to identify causes and consequences of retrotransposon expression finds activation by BRCA1 in ovarian cancer

Alkailani, M. I., Palidwor, G., Poulin, A., Mohan, R., Pépin, D., Vanderhyden, B. C., & Gibbings, D. (2021) · NAR Cancer · doi:10.1093/narcan/zcaa040 · Cited by 9

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients

Dericquebourg, A., Frétigny, M., Chatron, N., Tardy, B., Zawadzki, C., Chambost, H., Vinciguerra, C., & Jourdy, Y. (2023) · Journal of Thrombosis and Haemostasis · doi:10.1016/j.jtha.2022.12.005 · Cited by 9

Human transposon insertion profiling by sequencing (TIPseq) to map LINE-1 insertions in single cells

McKerrow, W., Tang, Z., Steranka, J. P., Payer, L. M., Boeke, J. D., Keefe, D. L., Fenyö, D., Burns, K. H., & Liu, C. (2020) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2019.0335 · Cited by 10

Mechanism-guided quantification of LINE-1 reveals p53 regulation of both retrotransposition and transcriptionPreprint

Solovyov, A., Behr, J. M., Hoyos, D., Banks, E., Drong, A., Zhong, J. Z., Garcia-Rivera, E., McKerrow, W., Chu, C., Zaller, D. M., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.11.539471 · Cited by 9

Targeting transposable elements in cancer: developments and opportunities

Wang, Z.-Y., Ge, L., Ouyang, Y., Jin, X., & Jiang, Y. (2024) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2024.189143 · Cited by 11

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome

Yano, N., Chong, P. F., Kojima, K. K., Miyoshi, T., Luqman-Fatah, A., Kimura, Y., Kora, K., Kayaki, T., Maizuru, K., Hayashi, T., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2024-110056 · Cited by 8

LINE-1 ORF1p expression occurs in clear cell ovarian carcinoma precursors and is a candidate blood biomarker

de Santiago, P. R., Sato, S., Zhang, S. J., Dougher, M. C., Devins, K. M., Bilecz, A. J., Rayamajhi, S., Mingo, G., Rendulich, H. S., Feng, Y., et al. (2025) · npj Precision Oncology · doi:10.1038/s41698-025-00849-1 · Cited by 9

Approaches to repurposing reverse transcriptase antivirals in cancer

Head, R. J., Islam, S., & Martin, J. H. (2025) · British Journal of Clinical Pharmacology · doi:10.1002/bcp.70113 · Cited by 9

Retrotransposition-competent L1s are increased in the genomes of individuals with amyotrophic lateral sclerosis

Pfaff, A. L., & Kõks, S. (2025) · Experimental Biology and Medicine · doi:10.3389/ebm.2025.10575 · Cited by 8

Transgene integration in mammalian cells: The tools, the challenges, and the future

Fong, J. H. C., & Ceroni, F. (2025) · Cell Systems · doi:10.1016/j.cels.2025.101426 · Cited by 15

BRCA1-A and LIG4 complexes mediate ecDNA biogenesis and cancer drug resistance

Chung, O. W., Yao, S., Wang, L., Yang, F., Schier, L., Aldana, M., Cerda-Smith, C. G., Hutchinson, H. M., Wood, K. C., Su, W., et al. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2530443123 · Cited by 9

Non-coding RNAs in stroke pathology, diagnostics, and therapeutics

Potemkin, N., & Clarkson, A. N. (2022) · Neurochemistry International · doi:10.1016/j.neuint.2022.105467 · Cited by 9

Drosophila as a Model for Human Viral Neuroinfections

Benoit, I., Curzio, D. L. D., Civetta, A., & Douville, R. N. (2022) · Cells · doi:10.3390/cells11172685 · Cited by 8

Transposable elements and the multidimensional genome

Larsen, P. A. (2018) · Chromosome Research · doi:10.1007/s10577-018-9575-2 · Cited by 8

Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis

Zumalave, S., Santamarina, M., Espasandín, N. P., Zamora, J., García‐Souto, D., Temes, J., Baker, T. M., Rodríguez‐Castro, J., Otero, P., Pequeño‐Valtierra, A., et al. (2026) · Science · doi:10.1126/science.aee4513 · Cited by 13

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Vézain, M., Thauvin‐Robinet, C., Vial, Y., Coutant, S., Drunat, S., Urtizberea, J. A., Rolland, A., Jacquin, A., Fehrenbach, S., Nicolas, G., et al. (2022) · Human Genetics · doi:10.1007/s00439-022-02473-6 · Cited by 8

Mapping Retrotransposon LINE-1 Sequences into Two Cebidae Species and Homo sapiens Genomes and a Short Review on Primates

Milioto, V., Perelman, P. L., Paglia, L. L., Biltueva, L. S., Roelke, M. E., & Dumas, F. (2022) · Genes · doi:10.3390/genes13101742 · Cited by 7

Emerging Opportunities to Study Mobile Element Insertions and Their Source Elements in an Expanding Universe of Sequenced Human Genomes

Devine, S. E. (2023) · Genes · doi:10.3390/genes14101923 · Cited by 8

Retrotransposable genetic elements causing neutrophil defects

Roos, D., & de Boer, M. (2018) · European Journal of Clinical Investigation · doi:10.1111/eci.12953 · Cited by 8

Synchronous L1 retrotransposition events promote chromosomal crossover early in human tumorigenesisPreprint

Zumalave, S., Santamarina, M., Espasandín, N. P., García‐Souto, D., Temes, J., Baker, T. M., Pequeño‐Valtierra, A., Otero, I., Rodríguez‐Castro, J., Oitabén, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.27.596794 · Cited by 8

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotranspositionPreprint

Zhang, T., Zhao, W., Wirth, C., Díaz‐Gay, M., Yin, J., Cecati, M., Marchegiani, F., Hoang, P. H., Leduc, C., Baine, M. K., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.14.643063 · Cited by 7

Epigenetic Biomarkers for Cervical Cancer Progression: A Scoping Review

Ladoukakis, E., Andriamiadana, G., Hajizadah, F., James, L. G. E., & Nedjai, B. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199423 · Cited by 6

Rapid DNA cleavage by the LINE-1 endonuclease proximal to DNA ends and at mismatches

Miller, B. D., Smail, B. A., van Eeuwen, T., Kodama, H. M., Kondo, K., Jiang, H. L., O’Brien, A., Dai, N., Trachman, R. J., Guan, S., et al. (2025) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2025.110994 · Cited by 8

A retrotransposon gag-like-3 gene RTL3 and SOX-9 co-regulate the expression of COL2A1 in chondrocytes

Ball, H. C., ANSARI, M. Y. K., Ahmad, N., Novak, K. M., & Haqqi, T. M. (2020) · Connective Tissue Research · doi:10.1080/03008207.2020.1828380 · Cited by 8

A novel role of TRIM28 B box domain in L1 retrotransposition and ORF2p-mediated cDNA synthesis

Du, Q., Stow, E. C., LaCoste, D., Freeman, B., Baddoo, M., Shareef, A. M., Miller, K. M., & Belancio, V. P. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad247 · Cited by 7

RetroSeeker reveals the characteristics, expression, and evolution of a large set of novel retrotransposons

Huang, J., Chen, Z., Li, B., Qu, L., & Yang, J. (2023) · Advanced Biotechnology · doi:10.1007/s44307-023-00005-5 · Cited by 6

Transcriptional coupling of telomeric retrotransposons with the cell cycle

Liu, M., Xie, X., Li, X., Ren, X., Sun, J. L., Lin, Z. N., Hemba-Waduge, R.-U.-S., & Ji, J. (2025) · Science Advances · doi:10.1126/sciadv.adr2299 · Cited by 6

ORF1p Is a Potential Novel Diagnostic Marker for Differentiated Vulvar Intraepithelial Neoplasia

Hofstetter, G., Mildner, M., Tschandl, P., & Pammer, J. (2022) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000907 · Cited by 6

TE-SCALE: a comprehensive database for exploring transposable element expression across human cancers at single-cell resolution

Meng, X., Nie, Z., Wang, Q., Hu, Y., Deng, Y., Ai, N., Huang, Z., Li, Y., Yuan, Y., Xiao, J., et al. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf1235 · Cited by 5

A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression

Zhao, H., Liu, L., Sun, J., Jin, L., Xie, H., Li, J., Xu, H. M., Wu, D., Zhuang, X.-L., Peng, M., et al. (2023) · Science China Life Sciences · doi:10.1007/s11427-023-2442-3 · Cited by 5

Retrotransposon SINEs in age-related diseases: Mechanisms and therapeutic implications

Shah, S., Yu, S., Zhang, C., Ali, I., Wang, X., Qian, Y., & Xiao, T. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102539 · Cited by 5

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Chatron, N., Cassinari, K., Quenez, O., Baert‐Desurmont, S., Bardel, C., Buisine, M., Calpena, E., Capri, Y., Corominas, J., Diguet, F., et al. (2019) · Human Mutation · doi:10.1002/humu.23845 · Cited by 5

Integrated Mobile Element Scanning (ME-Scan) method for identifying multiple types of polymorphic mobile element insertions

Loh, J. W., Ha, H., Lin, T., Sun, N., Burns, K. H., & Xing, J. (2020) · Mobile DNA · doi:10.1186/s13100-020-00207-x · Cited by 6

Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment

Okay, K., Varış, P. Ü., Miral, S., Pavlopoulou, A., Oktay, Y., & Karakülah, G. (2022) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-022-05636-6 · Cited by 5

Alu Methylation Patterns in Type 1 Diabetes: A Case-Control Study

Katsanou, A., Kostoulas, C., Liberopoulos, E. N., Tsatsoulis, A. A., Georgiou, I. A., & Tigas, S. K. (2023) · Genes · doi:10.3390/genes14122149 · Cited by 6

SeqURE – a new copy-capture based method for sequencing of unknown Retroposition events

Komkov, A. Y., Urazbakhtin, S. Z., Saliutina, M. V., Komech, E. A., Shelygin, Y. A., Nugmanov, G. A., Шубин, В. П., Smirnova, A., Bobrov, M. Y., Цуканов, А. С., et al. (2020) · Mobile DNA · doi:10.1186/s13100-020-00228-6 · Cited by 5

Particulate matter-induced hypomethylation of Alu and LINE1 in normal human bronchial epithelial cells and epidermal keratinocytes

Lee, J. Y., Lee, W. K., & Kim, D. S. (2022) · Genes and Environment · doi:10.1186/s41021-022-00235-4 · Cited by 5

Regulatory Potential of Mobile Genetic Elements in the Human MGMT Gene

Leonidovna, L. L. (2018) · Genetics & Genomic Sciences · doi:10.24966/ggs-2485/100008 · Cited by 4

Revisiting the impact of synthetic ORF sequences on engineered LINE-1 retrotranspositionPreprint

Chan, D. L.-K., Workman, S., Smits, N., Carleton, A. L., Gerdes, P., Han, J. S., Boeke, J. D., Faulkner, G. J., & Richardson, S. R. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.08.29.505632 · Cited by 5

The domesticated transposon protein L1TD1 associates with its ancestor L1 ORF1p to promote LINE-1 retrotranspositionPreprint

Kavaklıoğlu, G., Podhornik, A., Vcelkova, T., Marjanović, J., Beck, M. A., Phan-Canh, T., Mair, T., Miccolo, C., Drino, A., Doni, M., et al. (2024) · eLife · doi:10.7554/elife.96850 · Cited by 5

Tumor clusters with divergent inflammation and human retroelement expression determine the clinical outcome of patients with serous ovarian cancer

Gloßner, L., Eckstein, M., Mark, C., Beckmann, M. W., Hartmann, A., Strissel, P. L., & Strick, R. (2025) · Molecular Oncology · doi:10.1002/1878-0261.70067 · Cited by 4

Brain somatic mutations in Alzheimer’s disease: linking genetic mosaicism to neurodegeneration

Li, Z., Zhang, J., Liu, Z., Yu, L., Yang, C., Zhang, L., Xiang, Z., Hu, F., Brazh, N., Shu, K., et al. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00895-0 · Cited by 6

LINE-1 retrotransposition in a mouse TDP-43 model of neurodegeneration marks motor cortex neurons for cell-intrinsic and cell non-autonomous programmed cell death

Korada, S., Tam, O. H., Greco, H. C., Hammell, M., Dubnau, J., & Sher, R. B. (2025) · PLoS Genetics · doi:10.1371/journal.pgen.1012007 · Cited by 6

Inhibition of the LINE1-derived MET transcript induces apoptosis and oncoprotein knockdown in cancer cells

Miglio, U., Berrino, E., Avanzato, D., Molineris, I., Miano, V., Milan, M., Lanzetti, L., Morelli, E., Hughes, J. M., Bortoli, M. D., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102529 · Cited by 4

The Absence of Retroelement Activity Is Characteristic for Childhood Acute Leukemias and Adult Acute Lymphoblastic Leukemia

Urazbakhtin, S. Z., Smirnova, A., Volakhava, A., Zerkalenkova, E., Salyutina, M., Doubek, M., Jelínková, H., Khudainazarova, N., Volchkov, E., Belyaeva, L., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031756 · Cited by 4

Role of histone modification in chromatin-mediated transcriptional repression in protozoan parasite Trichomonas vaginalis

Song, M.-J., Kim, M.-K., Seo, J., Kwon, H. M., Yang, C. H., Joo, J.-S., Cho, Y., & Kim, H. (2025) · BMB Reports · doi:10.5483/bmbrep.2024-0175 · Cited by 4

Characterization of extrachromosomal circular DNA associated with genomic repeat sequences in breast cancer

Lu, W., Yao, L., Wang, Y., Li, F., Zhou, B., Ming, W., Jiang, Y., Liu, X., Liu, Y., Sun, X. S., et al. (2025) · International Journal of Cancer · doi:10.1002/ijc.35423 · Cited by 4

Structural and biochemical studies of mobile retrotransposon proteins in action

Thawani, A., Collins, K., & Nogales, E. (2025) · Current Opinion in Structural Biology · doi:10.1016/j.sbi.2025.103053 · Cited by 5

From Junk DNA to Genomic Treasure: Impacts of Transposable Element DNA , RNA , and Protein in Mammalian Development and Disease

Li, T. D., Toohill, K., & Modzelewski, A. J. (2025) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.70022 · Cited by 5

Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report

Deuitch, N. T., Li, S.-T., Courtney, E., Shaw, T., Dent, R. A., Tan, V. K. M., Yackowski, L., Torene, R. I., Berkofsky‐Fessler, W., & Ngeow, J. Y. Y. (2020) · Human Genome Variation · doi:10.1038/s41439-020-00111-z · Cited by 4

mRNA vaccines: Why and how they should be modified

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