ArticleHuman genetics2003
Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 77 citations in OpenAlex.
- Inverted Alu repeats in loop-out exon skipping across hominoid evolution.Nucleic acids research · 2026Article
- Exploring transposable elements: new horizons in cancer diagnostics and therapeutics.Mobile DNA · 2025Review
- Review
- A NovelHuman mutation · 2023Article
- Advances in transposable elements: from mechanisms to applications in mammalian genomics.Frontiers in genetics · 2023Review
- Transposable Elements and Human Diseases: Mechanisms and Implication in the Response to Environmental Pollutants.International journal of molecular sciences · 2022Review
- Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans.Mobile DNA · 2021Review
- Environmentally-Induced Transgenerational Epigenetic Inheritance: Implication of PIWI Interacting RNAs.Cells · 2019Review
- A human specific Alu DNA cassette is found flanking the genes of transcription factor AP2.BMC research notes · 2019Article
- Alu insertion variants alter mRNA splicing.Nucleic acids research · 2019Article
- Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.American journal of human genetics · 2018Article
- Peroxisome Proliferator Activated Receptor Agonists Modulate Transposable Element Expression in Brain and Liver.Frontiers in molecular neuroscience · 2018Article
- Beyond mRNA: The role of non-coding RNAs in normal and aberrant hematopoiesis.Molecular genetics and metabolism · 2017Review
- The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology.Genome research · 2017Article
- Structural variants caused byProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Structural Variation ofGenomics & informatics · 2016Review
- Roles for retrotransposon insertions in human disease.Mobile DNA · 2016Review
- Natural variation in ARF18 gene simultaneously affects seed weight and silique length in polyploid rapeseed.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Alu Elements as Novel Regulators of Gene Expression in Type 1 Diabetes Susceptibility Genes?Genes · 2015Article
- The impact of transposable elements in genome evolution and genetic instability and their implications in various diseases.Genomics & informatics · 2014Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Short interspersed elements, such as Alu elements, have propagated to more than one million copies in the human genome. They affect the genome in several ways, caused by retrotransposition, recombination between elements, gene conversion, and alterations in gene expression. These events, including novel insertions into active genes, have been associated with a number of human disorders. Hemophilia A is an X-linked severe bleeding disorder and is caused by mutations in the Factor VIII gene. The spectrum of mutations includes point mutations, rearrangements, insertions, and deletions. Recently, an Alu retrotransposition event in a coding exon has been reported in a family with a severe form of hemophilia A. This was the first report of an Alu insertion in the Factor VIII gene. Here, we report a second Alu insertion event that lies in an intron of the same gene that causes exon skipping and the complete disruption of gene expression.
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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.