ArticleAmerican journal of human genetics1997
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.
Article in American journal of human genetics, 1997. 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.
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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.
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Who cites it
19 citing papers in PubMed, 94 citations in OpenAlex.
- Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis · 2018Trial
- A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.Annals of neurology · 2026Article
- Genetic Diagnosis and Prenatal Diagnosis of a Rare FVIII Family With Haemophilia A.Journal of cellular and molecular medicine · 2024Article
- Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.Haemophilia : the official journal of the World Federation of Hemophilia · 2021Article
- Stimulation of reverse transcriptase generated cDNAs with specific indels by template RNA structure: retrotransposon, dNTP balance, RT-reagent usage.Nucleic acids research · 2017Article
- Immunogenicity of Biotherapeutics: Causes and Association with Posttranslational Modifications.Journal of immunology research · 2016Review
- Lost in transcription: transient errors in information transfer.Current opinion in microbiology · 2015Review
- Heritable change caused by transient transcription errors.PLoS genetics · 2013Article
- Factor VIII inhibitors in hemophilia A: rationale and latest evidence.Therapeutic advances in hematology · 2013Article
- Detection of intracellular Factor VIII protein in peripheral blood mononuclear cells by flow cytometry.BioMed research international · 2013Article
- Mutation analysis of factor VIII in Korean patients with severe hemophilia A.International journal of hematology · 2010Article
- Factor VIII inhibitors: risk factors and methods for prevention and immune modulation.Clinical reviews in allergy & immunology · 2009Review
- Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations.Transfusion · 2009Article
- The hemostatic balance revisited through the lessons of mankind evolution.Internal and emergency medicine · 2008Review
- 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
- Haemophilia A and haemophilia B: molecular insights.Molecular pathology : MP · 2002Review
- 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
- Haemophilia A and haemophilia B: molecular insights.Molecular pathology : MP · 2002Review
- Unexpected frameshifts from gene to expressed protein in a phage-displayed peptide library.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Although the molecular defect in patients in a Japanese family with mild to moderately severe hemophilia A was a deletion of a single nucleotide T within an A8TA2 sequence of exon 14 of the factor VIII gene, the severity of the clinical phenotype did not correspond to that expected of a frameshift mutation. A small amount of functional factor VIII protein was detected in the patient's plasma. Analysis of DNA and RNA molecules from normal and affected individuals and in vitro transcription/translation suggested a partial correction of the molecular defect, because of the following: (i) DNA replication/RNA transcription errors resulting in restoration of the reading frame and/or (ii) "ribosomal frameshifting" resulting in the production of normal factor VIII polypeptide and, thus, in a milder than expected hemophilia A. All of these mechanisms probably were promoted by the longer run of adenines, A10 instead of A8TA2, after the delT. Errors in the complex steps of gene expression therefore may partially correct a severe frameshift defect and ameliorate an expected severe phenotype.
Indexed as
Identifiers
9042915PMC1712533W2098857164What 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.