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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
In the citing paper
“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).”
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
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
Flagged first, then by citations
Research works printed but not linked: 2
- 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).
Cited by
Sorted by citations
Items 701–800 of 830
Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation
Yoon, C. K., & Yu, H. G. (2013) · Journal of genetic medicine · doi:10.5734/jgm.2013.10.1.13 · Cited by 1
Human Gene Therapy with Retrovirus and Lentivirus Vectors
Kochan, G. T., Stephenson, H. N., Breckpot, K., & Escors, D. (2012) · SpringerBriefs in biochemistry and molecular biology · doi:10.1007/978-3-0348-0402-8_6 · Cited by 2
Conley, M. E. (2003) · Current Opinion in Immunology · doi:10.1016/s0952-7915(03)00106-7 · Cited by 1
B-Cell Defects: From X-linked Recessive to Autosomal Recessive Agammaglobulinemia
Winkelstein, J. A., & Smith, C. I. E. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-407179-7.00011-4 · Cited by 1
Coleman, W. B. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-802761-5.00006-7 · Cited by 1
Overview of the Immune System and Its Pharmacological Targets
Mathias, C. B. (2019) · Springer eBooks · doi:10.1007/978-3-030-19922-7_1 · Cited by 1
Molecular biology of schizophrenia
Clair, D. S., Muir, W., & Blackwood, D. (1994) · Springer eBooks · doi:10.1007/978-94-011-0709-9_7 · Cited by 1
Molecular Genetics of X-Chromosomal Juvenile Retinoschisis
Huopaniemi, L. (2000) · Työväentutkimus Vuosikirja · Cited by 1
The Analysis of Genetic Susceptibility
Vyse, T. J., & Morley, B. J. (2000) · Elsevier eBooks · doi:10.1016/b978-012440315-4/50080-x · Cited by 1
The molecular basis of Marinesco-Sjögren syndrome
Anttonen, A. (2008) · Työväentutkimus Vuosikirja · Cited by 1
Application Domains: The Human Genome Project
Tsui, L., & Scherer, S. W. (2002) · doi:10.1002/9783527612642.ch02 · Cited by 1
Investigations on molecular aspects of lethal congenital contracture syndrome
Pakkasjärvi, N. A. (2006) · Työväentutkimus Vuosikirja · Cited by 1
Orkin, S. H. (1986) · Nature · doi:10.1038/324021b0 · Cited by 1
Self-citationPositional Cloning and the Molecular Basis of Immunodeficiency
Smith, C. I. E., & Hammarström, L. L. G. (1995) · Annals of Medicine · doi:10.3109/07853899509002456 · Cited by 1
Cytokines in the treatment of primary immunodeficiency
Kruskal, B. A., & Ezekowitz, R. A. B. (1994) · Biotherapy · doi:10.1007/bf01878490 · Cited by 1
Green, M. H. L., Lowe, J. E., Teufel, R., & Petit-Frère, C. (1991) · Experimental Cell Research · doi:10.1016/0014-4827(91)90189-2 · Cited by 1
Phagocyte Functions and Defects: A Ten-Year Update
Bell, J. B., & Douglas, S. D. (1987) · Pediatric Annals · doi:10.3928/0090-4481-19870501-05 · Cited by 1
A genome approach to the human X chromosome
Caskey, C. T. (1991) · Current Opinion in Genetics & Development · doi:10.1016/0959-437x(91)80035-k · Cited by 1
Prediction and prevention in Huntington's disease
Morris, M. J., & Harper, P. S. (1991) · Elsevier eBooks · doi:10.1016/b978-0-7506-0029-3.50024-8 · Cited by 1
Segal, A. W., & Nugent, J. H. A. (1992) · Elsevier eBooks · doi:10.1016/b978-0-12-150404-5.50005-2 · Cited by 1
The Neutrophil Respiratory Burst Oxidase
Quinn, M. T. (2013) · IMPERIAL COLLEGE PRESS eBooks · doi:10.1142/9781848168374_0002 · Cited by 1
Pharmacogenetic Approaches to the Study of Brain Function
Nürnberger, J. I. (1987) · Springer eBooks · doi:10.1007/978-3-642-71635-5_64 · Cited by 1
Mrdutt, M. M., & Lairmore, T. C. (2016) · Springer eBooks · doi:10.1007/978-3-319-39412-1_1 · Cited by 1
First glimpse of the DMD gene?
Goodfellow, P. N. (1986) · Nature · doi:10.1038/323583a0 · Cited by 1
Chronic Granulomatous Disease of Childhood
Ambruso, D. R., & Johnston, R. B. (2006) · Elsevier eBooks · doi:10.1016/b978-0-7216-3695-5.50073-0 · Cited by 1
Using Next-Generation Sequencing to Identify Genes Mutated in Human Disorders
Barclay, S. (2017) · Libraries and Cultural Resources (University of Calgary) · doi:10.11575/prism/28740 · Cited by 1
Corey, S. J., & Rosoff, P. M. (1989) · Springer eBooks · doi:10.1007/978-94-009-1279-3_2 · Cited by 1
The Identification of Genes which Cause or Predispose to Mental Illness
Williamson, R., & Goate, A. (1990) · Springer eBooks · doi:10.1007/978-3-662-07421-3_6 · Cited by 1
Poller, W. C. (1990) · Verhandlungen der Deutschen Gesellschaft für Innere Medizin · doi:10.1007/978-3-642-84317-4_82
Hereditäre Immundefizienzen und hämatologische Neoplasien
Meindl, A. (2003) · Springer eBooks · doi:10.1007/978-3-642-59343-7_2
Matteo, G. D. (2009) · Cineca Institutional Research Information System (Tor Vergata University) · doi:10.58015/di-matteo-gigliola_phd2009-09-22
Towards Routine Screening of Rare Genetic Diseases
Stasia, M. J. (2010) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2010.100004
Humangenetik und Theorie der Krankheit
Vogel, F. (1989) · Springer eBooks · doi:10.1007/978-3-642-74401-3_3
Phenotyping and genotyping of idiopathic infantile nystagmus
Thomas, S. (2010) · Figshare
Uses and Abuses of Endocytotic and Heterophagic Pathways
Holtzman, E. (1989) · Springer eBooks · doi:10.1007/978-1-4899-2540-4_4
Immunological Disorders: Hereditary
Puck, J. M. (2006) · Encyclopedia of Life Sciences · doi:10.1038/npg.els.0005523
Bültmann, B. D. (1987) · Verhandlungen der Deutschen Gesellschaft für Innere Medizin · doi:10.1007/978-3-642-85460-6_80
Gene Discovery: From Positional Cloning to Genomic Cloning
Gu, W., & Goldowitz, D. (2011) · doi:10.1002/9780470933947.ch1
Using an Integrative Strategy to Identify Mutations
Jiao, Y., & Gu, W. (2011) · doi:10.1002/9780470933947.ch13
Grundlagen der Genetik und Populationsgenetik
Langenbeck, U. (1996) · Springer eBooks · doi:10.1007/978-3-662-10599-3_6
NADPH oxydase Nox4 : structure/fonction protéomique recombinante et approche immunologique
Zhang, L. (2011) · theses.fr (ABES) · doi:10.70675/6253c341z0c22z4fddzbc8bzda43aae95e65
Clark, R. A., Volpp, B. D., & Nauseef, W. M. (1989) · PubMed Central
The Gene Content of Mammalian and Avian Sex Chromosomes
Bennett‐Baker, P. E., & Mueller, J. L. (2015) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0025480
Genetic and phenotypic heterogeneity in autosomal recessive retinal disease
Sergouniotis, P. I. (2012) · UCL Discovery (University College London)
Prenatal diagnosis and carrier detection of inherited immunodeficiency disorders
Pelham, A., Kinnon, C., & Levinsky, R. J. (1990) · Pediatric Allergy and Immunology · doi:10.1111/j.1399-3038.1990.tb00010.x
2014 William Allan Award: A Hematologist’s Pursuit of Hemoglobin Genetics1
Orkin, S. H. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.12.007
Self-citationEpstein, E. H. (1987) · Archives of Dermatology · doi:10.1001/archderm.123.12.1719
Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases
Vihinen, M. (2006) · Human Mutation · doi:10.1002/humu.20427
Ursachen und Folgen chromosomaler Fehlverteilungen beim Menschen
Schwellenbach, N. (2005) · Univ. Duesseldorf: Duesseldorfer Dokumenten- und Publikationsserver
Genetische Individualität im Recht
Duttge, G., Engel, W., & Zoll, B. (2012) · Göttinger Schriften zum Medizinrecht · doi:10.17875/gup2012-27
Aportaciones de la genética molecular al estudio de la patología respiratoria
Baiget, M., & Tizzano, E. F. (1991) · Archivos de Bronconeumología · doi:10.1016/s0300-2896(15)31526-x
Seemayer, T. A. (1989) · Pediatric Pathology · doi:10.3109/15513818909022359
IDENTIFICATION OF TWO NOVEL HUMAN NEURONAL CEROID LIPOFUSCINOSIS GENES
Siintola, E. (2008) · Työväentutkimus Vuosikirja
The Human Genome: Genes and DNA
Vogel, F., & Motulsky, A. G. (1997) · Springer eBooks · doi:10.1007/978-3-662-03356-2_4
Genetic Defects of Phagocyte Nadph Oxidase Activity and Activation
Bellavite, P., Bazzoni, F., Scolaro, G., Poli, G., Dusi, S., & Cassatella, M. A. (1989) · International Journal of Immunopathology and Pharmacology · doi:10.1177/039463208900200204
Lewis, J. P. (2009) · WakeSpace Scholarship (Wake Forest University)
Furuta, H., Ariga, T., Sakiyama, Y., & Matsumoto, S. (1995) · Japanese Journal of Clinical Immunology · doi:10.2177/jsci.18.160
Genetic approaches in the study of periodontal diseases
Sofaer, J. A. (1992) · Journal of Clinical Pharmacy and Therapeutics · doi:10.1111/j.1365-2710.1992.tb01208.x
Molecular Human Genetics — Strategies of Gene Identification
Lehrach, H. (1987) · Springer eBooks · doi:10.1007/978-3-642-71635-5_21
Bibliography Articles Cited in Commentaries
Lichtman, M. A., Spivak, J. L., Boxer, L. A., Shattil, S. J., & HENDERSON, E. (2000) · Elsevier eBooks · doi:10.1016/b978-012448510-5/50184-9 · Cited by 1
Mapping and identifying genes for monogenic disorders
Turnpenny, P. D., & Ellard, S. (2007) · Elsevier eBooks · doi:10.1016/b978-0-7020-2917-2.50011-x
The Past, Present and Future of Gene Correction Therapy
Akçay, D., & Kocaefe, Ç. (2014) · Acta Medica
ioche istry an Molecular iology of Chronic Granulo atous Disease
Segal, A. W. (1992)
ROS regulation of axonal mitochondrial transport
Liao, P. (2016) · Purdue e-Pubs (Purdue University System)
Pepping, J. K. (2016) · Louisiana State University · doi:10.31390/gradschool_theses.1329
de Souza, A. H. (2016) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.42.2016.tde-06092016-094234
Review Article: Applications of High-Throughput DNA Sequencing to Benign Hematology
Sankaran, V. G., & Gallagher, P. G. (2017)
The Human Genome: Implications for the Understanding of Human Disease
Rivenbark, A. G. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-374419-7.00006-8
Zon, L. I. (2018) · Journal of Clinical Investigation · doi:10.1172/jci124493
Genetics in cardiology. Part I. The history and evolution of modern genetics
Grochová, I., & Groch, L. (2007) · Cor et Vasa · doi:10.33678/cor.2007.070
Genetic and B Cell Functional Studies of X-Linked Immunodeficiencies
Lau, Y. (1988) · Enlighten: Theses (The University of Glasgow)
HE ROLE OF NADPH OXIDASES IN THE FORMATION OF ALCOHOL-INDUCED OXIDATIVE STRESS
Сергеевич, Е. Е. (2020) · Научное обозрение Медицинские науки (Scientific Review Medical Sciences) · doi:10.17513/srms.1090
Clinical and molecular genetic study of movement disorders
Valente, E. M. (2003) · UCL Discovery (University College London)
Generation and analysis of granulocyte elastase-deficient cre-transgenic mice
Phylactides, M. (1998) · UCL Discovery (University College London)
Gussoni, E. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821635-4.00006-0
Prospects for Gene Therapy of Inherited Immunodeficiency
Casimir, C. M. (1999) · Blood cell biochemistry · doi:10.1007/978-1-4615-4889-8_6
Genetic Aspects of Endocrine Disease
Cole, T. R. P. (2022) · doi:10.1093/med/9780198870197.003.0009
Tsui, L., & Steve, W. S. (2001) · Biotechnology · doi:10.1002/9783527620876.ch2
Metzler, D. E., Metzler, C. M., & Sauke, D. J. (2001) · Elsevier eBooks · doi:10.1016/b978-012492543-4/50029-5
Biochemie und Molekularbiologie 1986
(1987) · Nachrichten aus Chemie Technik und Laboratorium · doi:10.1002/nadc.19870350207
(1991) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.1991.29.1.13
Cytokines in the treatment of primary immunodeficiency
Kruskal, B. A., & Ezekowitz, R. A. B. (1994) · Springer eBooks · doi:10.1007/978-94-011-0233-9_11
Devor, E. J. (1993) · Cambridge University Press eBooks · doi:10.1017/chol9780521332866.013
Molecular Genetics and Heterogeneity in Manic Depression
Gurling, H., Sherrington, R. P., Brynjolfsson, J., Potter, M., Mclnnis, M. G., Pétursson, H., & Hodgkinson, S. (1989) · Humana Press eBooks · doi:10.1007/978-1-4612-4520-9_4
(1987) · Journal of Laboratory Medicine · doi:10.1515/labm.1987.11.7-8.280
Grundlagen der Genetik und Populationsgenetik
Langenbeck, U. (2004) · Springer eBooks · doi:10.1007/978-3-662-10597-9_6
Lionakis, M. S. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.733574909.793572026
Petrides, P. E. (1988) · Springer-Lehrbuch · doi:10.1007/978-3-642-87858-9_30
(1987) · The Lancet · doi:10.1016/s0140-6736(87)91676-x
Genomics and Pediatric Research
Boright, A. P. (2002) · Pediatric Research · doi:10.1203/01.pdr.0000042461.81761.0b
Petrides, P. E. (1988) · Springer-Lehrbuch · doi:10.1007/978-3-662-09348-1_30
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review