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Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.
Curtis J, Luo Y, Zenner HL, Cuchet-Lourenço D, Wu C, Lo K, Maes M, Alisaac A, Stebbings E, Liu JZ, Kopanitsa L, Ignatyeva O, Balabanova Y, Nikolayevskyy V, Baessmann I, Thye T, Meyer CG, Nürnberg P, Horstmann RD, Drobniewski F, Plagnol V, Barrett JC, Nejentsev S. Curtis J, et al. Nat Genet. 2015 May;47(5):523-527. doi: 10.1038/ng.3248. Epub 2015 Mar 16. Nat Genet. 2015. PMID: 25774636 Free PMC article.
Common variants at 11p13 are associated with susceptibility to tuberculosis.
Thye T, Owusu-Dabo E, Vannberg FO, van Crevel R, Curtis J, Sahiratmadja E, Balabanova Y, Ehmen C, Muntau B, Ruge G, Sievertsen J, Gyapong J, Nikolayevskyy V, Hill PC, Sirugo G, Drobniewski F, van de Vosse E, Newport M, Alisjahbana B, Nejentsev S, Ottenhoff TH, Hill AV, Horstmann RD, Meyer CG. Thye T, et al. Among authors: curtis j. Nat Genet. 2012 Feb 5;44(3):257-9. doi: 10.1038/ng.1080. Nat Genet. 2012. PMID: 22306650 Free PMC article.
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO. Record J, et al. Among authors: curtis j. Blood. 2015 Sep 24;126(13):1527-35. doi: 10.1182/blood-2014-12-611012. Epub 2015 Jul 29. Blood. 2015. PMID: 26224645 Free PMC article.
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, 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 JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S. Angulo I, et al. Among authors: curtis j. Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17. Science. 2013. PMID: 24136356 Free PMC article.
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.
Eletto D, Burns SO, Angulo I, Plagnol V, Gilmour KC, Henriquez F, Curtis J, Gaspar M, Nowak K, Daza-Cajigal V, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. Eletto D, et al. Among authors: curtis j. Nat Commun. 2016 Dec 23;7:13992. doi: 10.1038/ncomms13992. Nat Commun. 2016. PMID: 28008925 Free PMC article.
LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.
Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. Burns SO, et al. Among authors: curtis j. J Allergy Clin Immunol. 2012 Dec;130(6):1428-32. doi: 10.1016/j.jaci.2012.07.035. Epub 2012 Sep 14. J Allergy Clin Immunol. 2012. PMID: 22981790 Free PMC article. No abstract available.
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S. Cuchet-Lourenço D, et al. Among authors: curtis j. Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19. Science. 2018. PMID: 30026316 Free PMC article.
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S. Plagnol V, et al. Among authors: curtis j. Bioinformatics. 2012 Nov 1;28(21):2747-54. doi: 10.1093/bioinformatics/bts526. Epub 2012 Aug 31. Bioinformatics. 2012. PMID: 22942019 Free PMC article.
Topoisomerase 2β mutation impairs early B-cell development.
Papapietro O, Chandra A, Eletto D, Inglott S, Plagnol V, Curtis J, Maes M, Alisaac A, Albuquerque AS, Basseres E, Hermine O, Picard C, Fischer A, Durandy A, Kracker S, Burns SO, Cuchet-Lourenco D, Okkenhaug K, Nejentsev S. Papapietro O, et al. Among authors: curtis j. Blood. 2020 Apr 23;135(17):1497-1501. doi: 10.1182/blood.2019003299. Blood. 2020. PMID: 32128574 Free PMC article. No abstract available.
3,674 results