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
Molecular Cloning: A Laboratory Manual
Sambrook, J., Fritsch, E., & Maniatis, T. (1989) · UCLA - Biblioteca de Ciencias de la Salud · Cited by 133,589
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Detection of specific sequences among DNA fragments separated by gel electrophoresis
Southern, E. M. (1975) · Journal of Molecular Biology · doi:10.1016/s0022-2836(75)80083-0 · Cited by 32,245
Molecular Cloning. A Laboratory Manual
Wood, E. (1983) · Biochemical Education · doi:10.1016/0307-4412(83)90068-7 · Cited by 29,534
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Feinberg, A. P., & Vogelstein, B. (1983) · Analytical Biochemistry · doi:10.1016/0003-2697(83)90418-9 · Cited by 24,512
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
Chirgwin, J. M., Przybyla, A., MacDonald, R. J., & Rutter, W. J. (1979) · Biochemistry · doi:10.1021/bi00591a005 · Cited by 21,460
[57] Sequencing end-labeled DNA with base-specific chemical cleavages
Maxam, A. M., & Gilbert, W. (1980) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(80)65059-9 · Cited by 13,943
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
Botstein, D., White, R. L., Skolnick, M. H., & Davis, R. W. (1980) · Europe PMC (PubMed Central) · Cited by 8,327
Melton, D. A., Krieg, P. A., Rebagliati, M. R., Maniatis, T., Zinn, K., & Green, M. R. (1984) · Nucleic Acids Research · doi:10.1093/nar/12.18.7035 · Cited by 6,324
[2] New M13 vectors for cloning
Messing, J. W. (1983) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(83)01005-8 · Cited by 5,240
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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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Hardy, K. J., Young, H. A., & Lagoo, A. S. (1994) · Immunology and Allergy Clinics of North America · doi:10.1016/s0889-8561(22)00772-x
Benna, J. E., Dang, P. M., & Yaffe, M. B. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-821618-7.30106-7
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Lambeth, J. D. (2023) · Springer eBooks · doi:10.1007/978-3-031-23752-2_3
Reminiscences on Positional Cloning of X-CGD Gene (Aka CYBB, gp91phox, Nox2)
Orkin, S. H. (2023) · Springer eBooks · doi:10.1007/978-3-031-23752-2_5
Self-citationEROS protein: Decoding its pivotal role in redox homeostasis and disease pathogenesis
Liang, S., Zhou, Y., Ren, W., Xu, Y., Tang, M., Su, Y., Li, L., & Gao, M. (2025) · Advances in Redox Research · doi:10.1016/j.arres.2025.100147
Bioethics and the Federal Government
Cook-Deegan, R. M. (1996) · Springer eBooks · doi:10.1007/978-1-4899-0170-5_9
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Lipton, J. M. M. (2026) · Pediatric Blood & Cancer · doi:10.1002/1545-5017.70221
Makni‐Maalej, K. (2012) · theses.fr (ABES) · doi:10.70675/5adb1cf0zf793z4510zac86z3ccb31819fd9
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Leclerc, J. (2013) · theses.fr (ABES) · doi:10.70675/5743e778zd4fdz4faazbccfz81db73478c61
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Dakik, H. (2017) · theses.fr (ABES) · doi:10.70675/c50123fez19eaz4414zaf63z4c616441a1d3
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Nüße, O. (2026) · Springer eBooks · doi:10.1007/978-3-032-21135-4_16
Rochas, P., Val-Pevida, M., Beaumel, S., Petit-Härtlein, I., Plazy, C., Fieschi, F., & Stasia, M. J. (2026) · Antioxidants · doi:10.3390/antiox15060724
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Katsuyama, M. (2013) · Folia Pharmacologica Japonica · doi:10.1254/fpj.142.285
The interaction of UVA radiation with cultured human skin cells
Zhang, J. (2014) · The University of Bath Online Publications Store (The University of Bath)
Role of Growth Factors and Cytokines in the Therapy of Immune Deficiencies
Gupta, S. (1994) · E&M. Endocrinology and metabolism · doi:10.1007/978-1-4612-2616-1_10
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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