ArticleFrontiers in genetics2020
A Novel Nonsense Mutation of
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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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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.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.Journal of orthopaedic surgery and research · 2024Article
- Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.Molecular biology reports · 2023Article
- Microarray analysis identifies coding and non-coding RNA markers of liver injury in whole body irradiated mice.Scientific reports · 2023Article
- Prevalence, awareness, treatment, and control of dyslipidemia in Chinese adults: a systematic review and meta-analysis.Frontiers in cardiovascular medicine · 2023Review
- Novel heterozygous mutation inFrontiers in genetics · 2022Article
- Case Report: A Homozygous Mutation (p.Y62X) ofFrontiers in aging neuroscience · 2021Article
- Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.Frontiers in neuroscience · 2021Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Arteriosclerotic cardiovascular disease (ASCVD) is one of the major causes of death worldwide and most commonly develops as a result of atherosclerosis (AS). As we all know, dyslipidemia is a leading pathogenic risk factor for ASCVD, which leads to cardiac ischemic injury and myocardial infarction. Dyslipidemias include hypercholesterolemia, hypertriglyceridemia, increased low-density lipoprotein cholesterol (LDL-c) and decreased high density lipoproteins cholesterol (HDL-c). Mutations of dyslipidemia related genes have been proved to be the crucial contributor to the development of AS and ASCVD. In this study, a Han-Chinese family with ASCVD was enrolled and the lipid testing discovered an obvious reduced levels of HDL-c in the affected members. We then performed whole exome sequencing to detect the candidate genes of the family. After data filtering, a novel heterozygous nonsense mutation (NM_007168: c.3460C>T; p.R1154X) of
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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.