ArticleThe Journal of clinical investigation1997
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.
Article in The Journal of clinical investigation, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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
38 citing papers in PubMed, 136 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment.Microorganisms · 2023Review
- Precise somatic genome editing for treatment of inborn errors of immunity.Frontiers in immunology · 2022Review
- Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.Frontiers in immunology · 2021Article
- CRISPR-Directed Therapeutic Correction at theMolecular therapy. Methods & clinical development · 2020Article
- NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease.Journal of clinical immunology · 2020Article
- Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease.Pediatric health, medicine and therapeutics · 2020Review
- CRISPR/Cas9-generated p47Scientific reports · 2017Article
- A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.Nature genetics · 2017Article
- Gene-edited pseudogene resurrection corrects p47Blood advances · 2017Article
- Rheumatoid arthritis: identifying and characterising polymorphisms using rat models.Disease models & mechanisms · 2016Review
- Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion.PLoS genetics · 2016Article
- Genetic disorders coupled to ROS deficiency.Redox biology · 2015Review
- Chronic granulomatous disease: two decades of experience from a tertiary care centre in North West India.Journal of clinical immunology · 2014Article
- Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.European journal of human genetics : EJHG · 2013Article
- Diabetes, renal and cardiovascular disease in p47 phox-/- chronic granulomatous disease.Journal of clinical immunology · 2013Article
- Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.Journal of clinical immunology · 2013Article
- Inverted low-copy repeats and genome instability--a genome-wide analysis.Human mutation · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47 degrees CGD) is a GT deletion (DeltaGT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse population. In each of 34 consecutive unrelated normal individuals, both the normal and mutant DeltaGT sequences were present in genomic DNA, suggesting that a p47-phox related sequence carrying DeltaGT exists in the normal population. Screening of genomic bacteriophage and YAC libraries identified 13 p47-phox bacteriophage and 19 YAC clones. The GT deletion was found in 11 bacteriophage and 15 YAC clones. Only 5 exonic and 33 intronic differences distinguished all DeltaGT clones from all wild-type clones. The most striking differences were a 30-bp deletion in intron 1 and a 20-bp duplication in intron 2. These results provide good evidence for the existence of at least one highly homologous p47-phox pseudogene containing the DeltaGT mutation. The p47-phox gene and pseudogene(s) colocalize to chromosome 7q11.23. This close linkage, together with the presence within each gene of multiple recombination hot spots, suggests that the predominance of the DeltaGT mutation in A47 degrees CGD is caused by recombination events between the wild-type gene and the pseudogene(s).
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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.