ArticleProceedings of the National Academy of Sciences of the United States of America1992
Reading-frame restoration with an apolipoprotein B gene frameshift mutation.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 51 citations in OpenAlex.
- A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.Annals of neurology · 2026Article
- Correction of frameshift mutations in the atpB gene by translational recoding in chloroplasts of Oenothera and tobacco.The Plant cell · 2021Article
- Frameshift variations in the RHD coding sequence: Molecular mechanisms permitting protein expression.Transfusion · 2020Review
- Immunohistochemical detection of the pro-apoptotic Bax∆2 protein in human tissues.Histochemistry and cell biology · 2020Article
- Firmicutes-enriched ISBiotechnology for biofuels · 2018Article
- Stimulation of reverse transcriptase generated cDNAs with specific indels by template RNA structure: retrotransposon, dNTP balance, RT-reagent usage.Nucleic acids research · 2017Article
- Insights from human congenital disorders of intestinal lipid metabolism.Journal of lipid research · 2015Review
- Lost in transcription: transient errors in information transfer.Current opinion in microbiology · 2015Review
- Heritable change caused by transient transcription errors.PLoS genetics · 2013Article
- The fidelity of transcription: RPB1 (RPO21) mutations that increase transcriptional slippage in S. cerevisiae.The Journal of biological chemistry · 2013Article
- Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.Case reports in gastroenterology · 2012Article
- Energetic signatures of single base bulges: thermodynamic consequences and biological implications.Nucleic acids research · 2010Article
- Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations.Transfusion · 2009Article
- Transcriptional slippage in bacteria: distribution in sequenced genomes and utilization in IS element gene expression.Genome biology · 2005Article
- Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.Nucleic acids research · 2004Article
- Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.American journal of human genetics · 2002Article
- Nonlinearity in genetic decoding: homologous DNA replicase genes use alternatives of transcriptional slippage or translational frameshifting.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.American journal of human genetics · 1997Article
- Oligo(A) sequences of human respiratory syncytial virus G protein gene: assessment of their genetic stability in frameshift mutants.Journal of virology · 1994Article
- Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice.Proceedings of the National Academy of Sciences of the United States of America · 1993Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
We examined a mutant human apolipoprotein B (apoB) allele that causes hypobetalipoproteinemia and has a single cytosine deletion in exon 26. This frameshift mutation was associated with the synthesis of a truncated apoB protein of the predicted size; however, studies in human subjects and minigene expression studies in cultured cells indicated that the mutant allele also yielded a full-length apoB protein. The 1-base-pair deletion in the mutant apoB allele created a stretch of eight consecutive adenines. To understand the mechanism whereby the mutant apoB allele yielded a full-length apoB protein, the cDNA from cells transfected with the mutant apoB minigene expression vector was examined. Splicing of the mRNA was normal; however, 11% of the cDNA clones had an additional adenine within the stretch of eight adenines, yielding nine consecutive adenines. The insertion of the extra adenine, presumably during apoB gene transcription, is predicted to restore the correct apoB reading frame, thereby permitting the synthesis of a full-length apoB protein.
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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 Socratic graph.