ArticleAmerican journal of human genetics1990
A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.
Article in American journal of human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 98 citations in OpenAlex.
- Multiplex Apolipoprotein Panel Improves Cardiovascular Event Prediction and Cardiovascular Outcome by Identifying Patients Who Benefit From Targeted PCSK9 Inhibitor Therapy.Arteriosclerosis, thrombosis, and vascular biology · 2025Trial
- Effects of cholesteryl ester transfer protein inhibition on apolipoprotein A-II-containing HDL subspecies and apolipoprotein A-II metabolism.Journal of lipid research · 2009Trial
- Closing the gaps in patient management of dyslipidemia: stepping into cardiovascular precision diagnostics with apolipoprotein profiling.Clinical proteomics · 2024Review
- Apolipoprotein A-II, a Player in Multiple Processes and Diseases.Biomedicines · 2022Review
- Apolipoprotein A2 Isoforms: New Insight into the Risk of Myocardial Infarction.Journal of atherosclerosis and thrombosis · 2021Article
- Association between theBiomedicines · 2020Article
- Structural stability and functional remodeling of high-density lipoproteins.FEBS letters · 2015Review
- Article
- Setting the course for apoAII: a port in sight?Clinical lipidology · 2013Article
- Apolipoprotein A-II: still second fiddle in high-density lipoprotein metabolism?Arteriosclerosis, thrombosis, and vascular biology · 2013Article
- Human apolipoprotein A-II protects against diet-induced atherosclerosis in transgenic rabbits.Arteriosclerosis, thrombosis, and vascular biology · 2013Article
- High yield expression and purification of recombinant human apolipoprotein A-II in Escherichia coli.Journal of lipid research · 2012Article
- Role of apolipoprotein A-II in the structure and remodeling of human high-density lipoprotein (HDL): protein conformational ensemble on HDL.Biochemistry · 2012Article
- ApoA-I deficiency in mice is associated with redistribution of apoA-II and aggravated AApoAII amyloidosis.Journal of lipid research · 2011Article
- Dramatically decreased high density lipoprotein cholesterol, increased remnant clearance, and insulin hypersensitivity in apolipoprotein A-II knockout mice suggest a complex role for apolipoprotein A-II in atherosclerosis susceptibility.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
- Limited discriminant value of lipoprotein AI, lipoprotein Lp(a) and other lipoprotein particles in patients with and without early onset ischaemic heart disease.Journal of clinical pathology · 1995Article
- Article
- Evidence for linkage of the apolipoprotein A-II locus to plasma apolipoprotein A-II and free fatty acid levels in mice and humans.Proceedings of the National Academy of Sciences of the United States of America · 1993Article
- High density lipoprotein deficiency with xanthomas. A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene.The Journal of clinical investigation · 1993Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The first case of familial apolipoprotein A-II (apo A-II) deficiency was recently reported from Hiroshima, Japan, and designated apo A-IIHiroshima. The proband had no immunologically detectable apo A-II in her plasma. DNA sequence analysis showed that the proband was homozygous for a G----A transition at position 1 of intron 3 of the apo A-II gene. A sister of the proband, who had an intermediate level of plasma apo AII, was shown to be heterozygous for this base substitution. This splice-junction alteration is most likely responsible for apo A-II deficiency, since it would be expected to completely block splicing of intron 3 from the primary transcript and therefore prevent formation of functional mRNA. This deficiency seems to have little influence either on lipid and lipoprotein profiles or on the occurrence of coronary artery disease.
Indexed as
Identifiers
2107739PMC1683675W1586947911What OpenQuestion holds
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.