ArticleForensic science international2019
Functional characterization of ABCC9 variants identified in sudden unexpected natural death.
Article in Forensic science international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
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Who cites it
6 citing papers in PubMed, 17 citations in OpenAlex.
- Actually, what is a gain-of-function mutation?Genetics · 2026Article
- Prenatal opioid exposure significantly impacts placental protein kinase C (PKC) and drug transporters, leading to drug resistance and neonatal opioid withdrawal syndrome.Frontiers in neuroscience · 2024Article
- KArhiv za farmaciju · 2024Article
- AnGenes · 2023Article
- Kir6.1 and SUR2B in Cantú syndrome.American journal of physiology. Cell physiology · 2022Review
- Genetic Factors Underlying Sudden Infant Death Syndrome.The application of clinical genetics · 2021Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGenetic variation in ion channel genes ('channelopathies') are often associated with inherited arrhythmias and sudden death. Genetic testing ('molecular autopsies') of channelopathy genes can be used to assist in determining the likely causes of sudden unexpected death. However, different in silico approaches can yield conflicting pathogenicity predictions and assessing their impact on ion channel function can assist in this regard. METHODS AND
resultsWe performed genetic testing of cases of sudden expected death in the New York City metropolitan area and found four rare or novel variants in ABCC9, which codes for the regulatory SUR2 subunit of K
conclusionsAll four variants caused a gain-of-function phenotype. Given the expression of SUR2-containing K
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Registered trials
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