The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage
Open accessAbstract
Answers from Exomes: Exome sequencing, which targets only the protein-coding regions of the genome, has the potential to identify the underlying genetic causes of rare inherited diseases. Angulo et al. (p. 866 , published online 17 October; see Perspective by Conley and Fruman ) performed exome sequencing of individuals from seven unrelated families with severe, recurrent respiratory infections. The patients carried the same mutation in the gene coding for the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). The mutation caused aberrant activation of this kinase, which plays a key role in immune cell signaling. Drugs inhibiting PI3Kδ are already in clinical trials for other disorders.
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Self-citationAn integrated map of genetic variation from 1,092 human genomes
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Self-citationStructural Basis for Activation and Inhibition of Class I Phosphoinositide 3-Kinases
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PI3K/AKT signaling pathway and cancer: An updated review
Martini, M., De Santis, M. C., Braccini, L., Gulluni, F., & Hirsch, E. (2014) · Annals of Medicine · doi:10.3109/07853890.2014.912836 · Cited by 1,020
The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia
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International Consensus Document (ICON): Common Variable Immunodeficiency Disorders
Bonilla, F. A., Barlan, I., Chapel, H., Costa-Carvalho, B. T., Cunningham-Rundles, C., de la Morena, M. T., Espinosa-Rosales, F. J., Hammarström, L., Nonoyama, S., Quinti, I., et al. (2016) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2015.07.025 · Cited by 872
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
Schubert, D., Bode, C., Kenefeck, R., Hou, T. Z., Wing, J. B., Kennedy, A., Bulashevska, A., Petersen, B.-S., Schäffer, A. A., Grüning, B. A., et al. (2014) · Nature Medicine · doi:10.1038/nm.3746 · Cited by 832
PI3K signalling in inflammation
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Metadata
- Authors
- Angulo, I., Vadas, O., Garçon, F., Banham-Hall, E., Plagnol, V., Leahy, T. R., Baxendale, H., Coulter, T., Curtis, J., Wu, C., Blake-Palmer, K., Perisic, O., Smyth, D., Maes, M., Fiddler, C., Juss, J., Cilliers, D., Markelj, G., Chandra, A., Farmer, G., Kielkowska, A., Clark, J., Kracker, S., Debré, M., Picard, C., Pellier, I., Jabado, N., Morris, J. A., Barcenas-Morales, G., Fischer, A., Stephens, L., Hawkins, P., Barrett, J. C., Abinun, M., Clatworthy, M., Durandy, A., Doffinger, R., Chilvers, E. R., Cant, A. J., Kumararatne, D., Okkenhaug, K., Williams, R. L., Condliffe, A., & Nejentsev, S.
- Venue
- Science
- Published
- 2013-11-15
- Volume
- 342
- Issue
- 6160
- Pages
- 866-871
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2072765132
- Cited by
- 636
- References
- 6
- FWCI
- 24.23
- Type
- journal article
- Language
- en
- Open access
- green
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- Angulo, I., Vadas, O., Garçon, F., Banham-Hall, E., Plagnol, V., Leahy, T. R., Baxendale, H., Coulter, T., Curtis, J., Wu, C., Blake-Palmer, K., Perisic, O., Smyth, D., Maes, M., Fiddler, C., Juss, J., Cilliers, D., Markelj, G., Chandra, A., . . . Nejentsev, S. (2013). Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science. https://doi.org/10.1126/science.1243292
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