The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.
Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location
Open accessAbstract
The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.
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“For example, H2O2 can also modulate genes expression by epigenetic modification and activate transcription factors such as AP-1, NRF2, CREB, HSF1, HIF-1, TP53, NF-κβ, NOTCH, SP1, SCREB-1 and FOXO family [14,15,16,17,18,19,20,21,22].”
From The Role of Reactive Species on Innate Immunity (2022) · cites this paper as [14]
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“These genes, which encode the respiratory burst oxidase proteins gp91 PHOX and p67 PHOX , are actively transcribed in myeloid cells that have differentiated beyond the promyelocyte stage (8,9).”
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Cites
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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
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- Botstein, D., White, R. L., Skolnick, M. & Davis, R. W. Am. J. hum. Genet. 32, 314–331 (1980).
- Francke, U. et al. Am. J. hum. Genet. 37, 250–267 (1985).
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An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs
Kozak, M. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.20.8125 · Cited by 5,090
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
Rommens, J. M., Iannuzzi, M. C., Kerem, B.-S., Drumm, M. L., Melmer, G., Dean, M. C., Rozmahel, R. F., Cole, J. L., Kennedy, D., Hidaka, N., et al. (1989) · Science · doi:10.1126/science.2772657 · Cited by 3,301
Reactive Oxygen Species (ROS)-Based Nanomedicine
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Myeloperoxidase: friend and foe
Klebanoff, S. J. (2005) · Journal of Leukocyte Biology · doi:10.1189/jlb.1204697 · Cited by 2,282
Metadata
- Authors
- Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H.
- Affiliations
- Harvard University (US)
- University of Massachusetts Chan Medical School (US)
- University of Michigan (US)
- Boston Children's Hospital (US)
- Venue
- Nature
- Published
- 1986-07
- Volume
- 322
- Issue
- 6074
- Pages
- 32-38
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2040096357
- Cited by
- 833
- References
- 43
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 2 · 2023: 13 · 2022: 5 · 2021: 17 · 2020: 8 · 2019: 13 · 2018: 10 · 2017: 11 · 2016: 18 · 2015: 12 · 2014: 16 · 2013: 19 · 2012: 14
- FWCI
- 26.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- Funders
- National Cancer Institute (CA 38325)
- National Institute of Allergy and Infectious Diseases (AI-21320)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD18661)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Keywords
- chronic granulomatous disease, gene cloning, X-linked inheritance, chromosome mapping, phagocytes, gene expression, nucleotide sequence
- MeSH terms
- Amino Acid Sequence, Base Sequence, Chromosome Deletion, Chromosome Mapping, Cloning, Molecular, DNA, Gene Expression Regulation, Granulomatous Disease, Chronic, Humans, RNA, Tissue Distribution, Transcription, Genetic, Leukemia, Myeloid, Acute
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