ArticleFrontiers in medicine2022
Identification of key biomarkers in Angelman syndrome by a multi-cohort analysis.
Article in Frontiers in medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
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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
1 citing paper in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.
- Trans-ancestry epigenome-wide association meta-analysis of DNA methylation with lifetime cannabis use.Molecular psychiatry · 2024Pooled it
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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
The Angelman Syndrome (AS) is an extreme neurodevelopmental disorder without effective treatments. While most patients with this disease can be diagnosed by genetic testing, there are still a handful of patients have an unrecognized genetic cause for their illness. Thus, novel approaches to clinical diagnosis and treatment are urgently needed. The aim of this study was to identify and characterize differentially expressed genes involved in AS and built potential diagnostic panel for AS by NGS sequencing. A multi-cohort analysis framework was used to analyze stem cell-derived neurons from AS patients in GSE160747 dataset. We identified three differentially expressed genes (ACTN1, ADAMTS2, SLC30A8) differentiates AS patients from controls. Moreover, we validated the expression patterns of these genes in GSE146640, GSE120225. Receiver operating characteristic (ROC) curves analysis demonstrated that these genes could function as potential diagnostic biomarkers [AUC = 1 (95% CI 1-1)]. This study may provide new approach for diagnosing patients with AS and helping to develop novel therapies in treating AS patients.
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