ArticleGenes2022
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
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- The Other Side of the Same Coin: Beyond the Coding Region in Amyotrophic Lateral Sclerosis.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.Brain : a journal of neurology · 2025Article
- Long-Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging.Translational neurodegeneration · 2025Review
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.NAR molecular medicine · 2024Article
- Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.Nature structural & molecular biology · 2024Article
- Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers.Movement disorders clinical practice · 2024Article
- Advances of research in diabetic cardiomyopathy: diagnosis and the emerging application of sequencing.Frontiers in cardiovascular medicine · 2024Review
- Endemic parkinsonism: clusters, biology and clinical features.Nature reviews. Neurology · 2023Review
- Article
- Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics.Bioengineering (Basel, Switzerland) · 2022Review
- Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.International journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundX-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism. It is caused by a SINE-VNTR-Alu (SVA) retrotransposon insertion in the
methodsHerein, we used Nanopore sequencing to investigate SVA genetic variability and methylation. We used blood-derived DNA from 96 XDP patients for amplicon-based deep Nanopore sequencing and validated it with fragment analysis which was performed using fluorescence-based PCR. To detect methylation from blood- and brain-derived DNA, we used a Cas9-targeted approach.
resultsHigh concordance was observed for hexanucleotide repeat numbers detected with Nanopore sequencing and fragment analysis. Within the SVA locus, there was no difference in genetic variability other than variations of the repeat motif between patients. We detected high CpG methylation frequency (MF) of the SVA and flanking regions (mean MF = 0.94, SD = ±0.12). Our preliminary results suggest only subtle differences between the XDP patient and the control in predicted enhancer sites directly flanking the SVA locus.
conclusionsNanopore sequencing can reliably detect SVA hexanucleotide repeat numbers, methylation and, lastly, variation in the repeat motif.
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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.