ArticleMedicine2018
Missense mutations in COL4A5 or COL4A6 genes may cause cerebrovascular fibromuscular dysplasia: Case report and literature review.
Article in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed, 8 citations in OpenAlex.
- In Silico Analysis of Collagens Missense SNPs and Human Abnormalities.Biochemical genetics · 2022Article
- The GWAS Analysis of Body Size and Population Verification of Related SNPs in Hu Sheep.Frontiers in genetics · 2021Article
- Coil embolization of bilateral internal mammary artery aneurysms in the setting of a heterozygous missense variant of unknown significance in COL5A1 and fibromuscular dysplasia.Journal of vascular surgery cases and innovative techniques · 2019Article
- Temporal Transcriptomics Leads From Discovery to in Vivo Validation: COL4A3/COL4A6/ COL4A5 and ITGA8 as Novel Arthrofibrosis Biomarkers in Post-traumatic Joint Contracture.Dose-response : a publication of International Hormesis SocietyArticle
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFibromuscular dysplasia (FMD) is a rare and controversial disease that is seldom associated with genes. Here, we report the discovery of 2 missense mutations in COL4A5 and COL4A6 that may be risk factors for causing cerebrovascular FMD. We performed high-throughput sequencing on a patient with FMD and her probable healthy daughter, then annotated the frequency of a variant in a control or general population and assessed its deleterious effects according to published guidelines.
conclusionsWe identified missense mutations in COL4A5 (exon43:c.C3940 > T:p.P1314S) and COL4A6 (exon36:c.C3538 > T:p.P1180S) from the proband and her daughter. Sanger sequencing revealed that these probable causal variants were passed to her from her mother. The two missense mutations may have complex functional effects on the integrity of the cerebral vessel walls, including modulating collagens and promoting angiogenesis expression, may be responsible for cerebrovascular FMD.
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Registered trials
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