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451 results

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Page 1
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F. Hadjadj J, et al. Among authors: knight jc. Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4. Nat Commun. 2020. PMID: 33087723 Free PMC article.
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity.
Gilchrist JJ, Makino S, Naranbhai V, Sharma PK, Koturan S, Tong O, Taylor CA, Watson RA, de Los Aires AV, Cooper R, Lau E, Danielli S, Hameiri-Bowen D, Lee W, Ng E, Whalley J, Knight JC, Fairfax BP. Gilchrist JJ, et al. Among authors: knight jc. Nat Commun. 2022 Jul 14;13(1):4073. doi: 10.1038/s41467-022-31626-4. Nat Commun. 2022. PMID: 35835762 Free PMC article.
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.
Cazier JB, Rao SR, McLean CM, Walker AK, Wright BJ, Jaeger EE, Kartsonaki C, Marsden L, Yau C, Camps C, Kaisaki P; Oxford-Illumina WGS500 Consortium; Taylor J, Catto JW, Tomlinson IP, Kiltie AE, Hamdy FC. Cazier JB, et al. Nat Commun. 2014 Apr 29;5:3756. doi: 10.1038/ncomms4756. Nat Commun. 2014. PMID: 24777035 Free PMC article.
Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus.
Parks T, Elliott K, Lamagni T, Auckland K, Mentzer AJ, Guy R, Cartledge D, Strakova L, Connor DO, Pollard AJ, Neville MJ, Mahajan A, Ashrafian H, Chapman SJ, Hill AVS, Sriskandan S, Knight JC. Parks T, et al. Among authors: knight jc. Genes Immun. 2020 Jan;21(1):63-70. doi: 10.1038/s41435-019-0082-z. Epub 2019 Aug 29. Genes Immun. 2020. PMID: 31462703 Free PMC article.
Peripheral CD8+ T cell characteristics associated with durable responses to immune checkpoint blockade in patients with metastatic melanoma.
Fairfax BP, Taylor CA, Watson RA, Nassiri I, Danielli S, Fang H, Mahé EA, Cooper R, Woodcock V, Traill Z, Al-Mossawi MH, Knight JC, Klenerman P, Payne M, Middleton MR. Fairfax BP, et al. Among authors: knight jc. Nat Med. 2020 Feb;26(2):193-199. doi: 10.1038/s41591-019-0734-6. Epub 2020 Feb 10. Nat Med. 2020. PMID: 32042196 Free PMC article.
Human Leukocyte Antigen Association Study Reveals DRB1*04:02 Effects Additional to DRB1*07:01 in Anti-LGI1 Encephalitis.
Peris Sempere V, Muñiz-Castrillo S, Ambati A, Binks S, Pinto AL, Rogemond V, Pittock SJ, Dubey D, Geschwind MD, Gelfand JM, Dilwali S, Lee ST, Knight J, Elliott KS, Irani S, Honnorat J, Mignot E. Peris Sempere V, et al. Neurol Neuroimmunol Neuroinflamm. 2022 Feb 3;9(2):e1140. doi: 10.1212/NXI.0000000000001140. Print 2022 Mar. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 35115410 Free PMC article.
Fine-Scale Genetic Structure in the United Arab Emirates Reflects Endogamous and Consanguineous Culture, Population History, and Geography.
Elliott KS, Haber M, Daggag H, Busby GB, Sarwar R, Kennet D, Petraglia M, Petherbridge LJ, Yavari P, Heard-Bey FU, Shobi B, Ghulam T, Haj D, Al Tikriti A, Mohammad A, Antony S, Alyileili M, Alaydaroos S, Lau E, Butler M, Yavari A, Knight JC, Ashrafian H, Barakat MT. Elliott KS, et al. Among authors: knight jc. Mol Biol Evol. 2022 Mar 2;39(3):msac039. doi: 10.1093/molbev/msac039. Mol Biol Evol. 2022. PMID: 35192718 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
451 results