The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Positional cloning of the APECED gene
Open accessAbstract
Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. We have isolated a novel gene from this region, AIRE (autoimmune regulator), which encodes a protein containing motifs suggestive of a transcription factor including two zinc-finger (PHD-finger) motifs, a proline-rich region and three LXXLL motifs. Two mutations, a C→T substitution that changes the Arg 257 (CGA) to a stop codon (TGA) and an A→G substitution that changes the Lys 83 (AAG) to a Glu codon (GAG), were found in this novel gene in Swiss and Finnish APECED patients. The Arg257stop (R257X) is the predominant mutation in Finnish APECED patients, accounting for 10/12 alleles studied. These results indicate that this gene is responsible for the pathogenesis of APECED. The identification of the gene defective in APECED should facilitate the genetic diagnosis and potential treatment of the disease and further enhance our general understanding of the mechanisms underlying autoimmune diseases.
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Cites
A signature motif in transcriptional co-activators mediates binding to nuclear receptors
Heery, D. M., Kalkhoven, E., Hoare, S., & Parker, M. G. (1997) · Nature · doi:10.1038/42750 · Cited by 2,128
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Self-citationTHE NOD MOUSE: A Model of Immune Dysregulation
Anderson, M. S., & Bluestone, J. A. (2005) · Annual Review of Immunology · doi:10.1146/annurev.immunol.23.021704.115643 · Cited by 1,113
Mack, C. L., Adams, D., Assis, D. N., Kerkar, N., Manns, M. P., Mayo, M. J., Vierling, J. M., Alsawas, M., Murad, M. H., & Czaja, A. J. (2020) · Hepatology · doi:10.1002/hep.31065 · Cited by 983
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A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
Glocker, E.-O., Hennigs, A., Nabavi, M., Schäffer, A. A., Woellner, C., Salzer, U., Pfeifer, D., Veelken, H., Warnatz, K., Tahami, F., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810719 · Cited by 800
Metadata
- Authors
- Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K. J. E., Lalioti, M. D., Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, S., Ito, F., & Shimizu, N.
- Venue
- Nature Genetics
- Published
- 1997-12
- Volume
- 17
- Issue
- 4
- Pages
- 393-398
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2028222510
- Cited by
- 1,447
- References
- 1
- FWCI
- 14.72
- Type
- journal article
- Language
- en
- Open access
- green
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- Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K. J. E., Lalioti, M. D., Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, S., Ito, F., & Shimizu, N. (1997). Positional cloning of the APECED gene. Nature Genetics. https://doi.org/10.1038/ng1297-393
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