ArticleThe Journal of clinical investigation1987
Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.
Article in The Journal of clinical investigation, 1987. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 83 citations in OpenAlex.
- Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novelFrontiers in medicine · 2023Article
- Successful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF).JPGN reports · 2021Article
- Complex genetic architecture in severe hypobetalipoproteinemia.Lipids in health and disease · 2018Article
- Insights from human congenital disorders of intestinal lipid metabolism.Journal of lipid research · 2015Review
- Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.American journal of human genetics · 2014Article
- Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.Case reports in gastroenterology · 2012Article
- Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.Frontiers in genetics · 2011Article
- Reading-frame restoration with an apolipoprotein B gene frameshift mutation.Proceedings of the National Academy of Sciences of the United States of America · 1992Article
- Transcriptional regulation of the apolipoprotein B100 gene: purification and characterization of trans-acting factor BRF-2.Molecular and cellular biology · 1992Article
- Phenotypes of apolipoprotein B and apolipoprotein E after liver transplantation.The Journal of clinical investigation · 1991Article
- A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.The Journal of clinical investigation · 1991Article
- Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.The Journal of clinical investigation · 1990Article
- Genetic basis of lipoprotein disorders.The Journal of clinical investigation · 1989Review
- Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.The Journal of clinical investigation · 1988Article
- Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.Nucleic acids research · 1988Article
- Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.The Journal of clinical investigation · 1988Article
- Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.Proceedings of the National Academy of Sciences of the United States of America · 1987Article
- Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.The Journal of clinical investigation · 1987Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
In 1979 Steinberg and colleagues recognized a unique kindred with normotriglyceridemic hypobetalipoproteinemia (1979. J. Clin. Invest. 64:292-301). We have undertaken an intensive reexamination of this kindred and have studied 41 family members in three generations. In this family we document the presence of two distinct apo B alleles associated with low plasma concentrations of apolipoprotein (apo) B and low density lipoprotein (LDL) cholesterol and we trace the inheritance of these two alleles over three generations. One of the alleles resulted in the production of an abnormal, truncated apo B species, apo B-37. The other apo B allele was associated with reduced plasma concentrations of the normal apo B species, apo B-100. H.J.B., the proband, and two of his siblings had both abnormal apo B alleles and were therefore compound heterozygotes for familial hypobetalipoproteinemia. Their average LDL-cholesterol level was 6 +/- 9 mg/dl. All of the offspring of the three compound heterozygotes had hypobetalipoproteinemia, and each had evidence of only one of the abnormal apo B alleles. In the entire kindred, we identified six heterozygotes for familial hypobetalipoproteinemia who had only the abnormal apo B-37 allele and their average LDL cholesterol was 31 +/- 12 mg/dl. We identified 10 heterozygotes who had only the allele for reduced plasma concentrations of apo B-100 and their LDL cholesterol level was 31 +/- 15 mg/dl. Unaffected family members (n = 22) had LDL cholesterol levels of 110 +/- 27 mg/dl. This report describes the first kindred in which two distinct abnormal apo B alleles have been identified, both of which are associated with familial hypobetalipoproteinemia.
Indexed as
Identifiers
What Socratic 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 Socratic graph.