ReviewCurrent opinion in lipidology2014
Hypobetalipoproteinemia and abetalipoproteinemia.
Review in Current opinion in lipidology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03963037 (Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia), which is not on this map. Cited by 67 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
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.
Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia: A Pilot Study
Who cites it
67 citing papers in PubMed, 166 citations in OpenAlex.
- Protective lipid-lowering variants in healthy older individuals without coronary heart disease.Open heart · 2021Trial
- Triglyceride-lowering therapies for hepatic steatosis: mechanisms, efficacy, and clinical perspectives.Frontiers in pharmacology · 2026Review
- Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.Frontiers in medicine · 2026Article
- Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.Journal of clinical and translational hepatology · 2025Review
- Genetic determinants of lipid metabolism in cardioprotection: From mechanisms to clinical practice.Biomolecules & biomedicine · 2025Review
- Homozygous Familial Hypercholesterolemia Treatment: New Developments.Current atherosclerosis reports · 2025Review
- Impact of LDL-C levels on severity and outcome of intracranial haemorrhage: a single-centre retrospective study.BMJ neurology open · 2025Article
- Association of Genotypes of ANGPTL3 with Vitamin D and Calcium Concentration in Cardiovascular Disease.Biochemical genetics · 2024Article
- ApoB100 and Atherosclerosis: What's New in the 21st Century?Metabolites · 2024Review
- Article
- Engineered human hepatocyte organoids enable CRISPR-based target discovery and drug screening for steatosis.Nature biotechnology · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novelFrontiers in medicine · 2023Article
- Signatures of Convergent Evolution and Natural Selection at the Alcohol Dehydrogenase Gene Region are Correlated with Agriculture in Ethnically Diverse Africans.Molecular biology and evolution · 2022Article
- Integrated weighted gene co-expression network analysis reveals biomarkers associated with prognosis of high-grade serous ovarian cancer.Journal of clinical laboratory analysis · 2022Article
- Metabolism of Triglyceride-Rich Lipoproteins.Handbook of experimental pharmacology · 2022Article
- Dyslipidemia and Its Associated Factors AmongJournal of multidisciplinary healthcare · 2022Article
- A new phenotypic classification system for dyslipidemias based on the standard lipid panel.Lipids in health and disease · 2021Article
- Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.Biomedicines · 2021Review
- Tebuconazole Fungicide Induces Lipid Accumulation and Oxidative Stress in HepG2 Cells.Foods (Basel, Switzerland) · 2021Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
purpose of reviewSeveral mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined hypolipidemia. Clinical manifestations range from none to severe, debilitating, and life-threatening disorders. This review summarizes recent genetic, metabolic, and clinical findings and presents an update on management strategies. RECENT
findingsCases of cirrhosis and hepatocellular carcinoma have now been identified in heterozygous familial hypobetalipoproteinemia probably because of decreased triglyceride transport capacity from the liver. ANGPTL3 mutations cause low levels of LDL-cholesterol and low HDL-cholesterol in compound heterozygotes and homozygous individuals, decrease reverse cholesterol transport, and lower glucose levels. The effect on atherosclerosis is unknown; however, severe fatty liver has been identified. Loss-of-function mutations in PCSK9 cause familial hypobetalipoproteinemia, which appears to lower risk for coronary artery disease and has no adverse sequelae. Phase III clinical trials are now underway examining the effect of PCSK9 inhibitors on cardiovascular events in combination with statin drugs. SUMMARY: Mutations causing low LDL-cholesterol and apoB have provided insight into lipid metabolism, disease associations, and the basis for drug development to lower LDL-cholesterol in disorders causing high levels of cholesterol. Early diagnosis and treatment are necessary to prevent adverse sequelae from familial hypobetalipoproteinemia and abetalipoproteinemia.
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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.