ArticleGenome medicine2012
Mobile elements in the human genome: implications for disease.
Article in Genome medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
58 citing papers in PubMed, 100 citations in OpenAlex.
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- Retroelements in thyroid cancer: epigenetic plasticity, dedifferentiation, and therapeutic opportunities.Reviews in endocrine & metabolic disorders · 2026Review
- Reactivation of retrotransposable elements is associated with environmental stress and ageing.Nature reviews. Genetics · 2025Review
- Comparative Analysis of Mammalian Adaptive Immune Loci Revealed Spectacular Divergence and Common Genetic Patterns.Molecular biology and evolution · 2025Article
- Detecting transposable elements in long-read genomes using sTELLeR.Bioinformatics (Oxford, England) · 2024Article
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- Jump-starting life: balancing transposable element co-option and genome integrity in the developing mammalian embryo.EMBO reports · 2024Review
- Are non-protein coding RNAs junk or treasure?: An attempt to explain and reconcile opposing viewpoints of whether the human genome is mostly transcribed into non-functional or functional RNAs.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024Article
- A pilot study of LINE-1 copy number and telomere length with aging in human sperm.Journal of assisted reproduction and genetics · 2023Article
- Transposon insertion profiling by sequencing (TIPseq) identifies novel LINE-1 insertions in human sperm.Journal of assisted reproduction and genetics · 2023Article
- Learning from cancer to address COVID-19.Biologia futura · 2023Review
- Epigenetic and chromosomal features drive transposon insertion in Drosophila melanogaster.Nucleic acids research · 2023Article
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Transposable element insertions in 1000 Swedish individuals.PloS one · 2023Article
- A retrotransposon storm marks clinical phenoconversion to late-onset Alzheimer's disease.GeroScience · 2022Article
- Article
- A benchmark and an algorithm for detecting germline transposon insertions and measuring de novo transposon insertion frequencies.Nucleic acids research · 2021Article
- Repetitive Elements in Humans.International journal of molecular sciences · 2021Review
- Epigenetics of Male Infertility: The Role of DNA Methylation.Frontiers in cell and developmental biology · 2021Review
- Transcription from a gene desert in a melanoma porcine model.Molecular genetics and genomics : MGG · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Perhaps as much as two-thirds of the mammalian genome is composed of mobile genetic elements ('jumping genes'), a fraction of which is still active or can be reactivated. By their sheer number and mobility, retrotransposons, DNA transposons and endogenous retroviruses have shaped our genotype and phenotype both on an evolutionary scale and on an individual level. Notably, at least the non-long terminal repeat retrotransposons are still able to cause disease by insertional mutagenesis, recombination, providing enzymatic activities for other mobile DNA, and perhaps by transcriptional overactivation and epigenetic effects. Currently, there are nearly 100 examples of known retroelement insertions that cause disease. In this review, we highlight those genome-scale technologies that have expanded our knowledge of the diseases that these mobile elements can elicit, and we discuss the potential impact of these findings for medicine. It is now likely that at least some types of cancer and neurological disorders arise as a result of retrotransposon mutagenesis.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.