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1983 1
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48 results

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Page 1
C5a-licensed phagocytes drive sterilizing immunity during systemic fungal infection.
Desai JV, Kumar D, Freiwald T, Chauss D, Johnson MD, Abers MS, Steinbrink JM, Perfect JR, Alexander B, Matzaraki V, Snarr BD, Zarakas MA, Oikonomou V, Silva LM, Shivarathri R, Beltran E, Demontel LN, Wang L, Lim JK, Launder D, Conti HR, Swamydas M, McClain MT, Moutsopoulos NM, Kazemian M, Netea MG, Kumar V, Köhl J, Kemper C, Afzali B, Lionakis MS. Desai JV, et al. Among authors: conti hr. Cell. 2023 Jun 22;186(13):2802-2822.e22. doi: 10.1016/j.cell.2023.04.031. Epub 2023 May 22. Cell. 2023. PMID: 37220746 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: conti h. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
IκBζ is an essential mediator of immunity to oropharyngeal candidiasis.
Taylor TC, Coleman BM, Arunkumar SP, Dey I, Dillon JT, Ponde NO, Poholek AC, Schwartz DM, McGeachy MJ, Conti HR, Gaffen SL. Taylor TC, et al. Among authors: conti hr. Cell Host Microbe. 2023 Oct 11;31(10):1700-1713.e4. doi: 10.1016/j.chom.2023.08.016. Epub 2023 Sep 18. Cell Host Microbe. 2023. PMID: 37725983 Free PMC article.
Animal models for candidiasis.
Conti HR, Huppler AR, Whibley N, Gaffen SL. Conti HR, et al. Curr Protoc Immunol. 2014 Apr 2;105:19.6.1-19.6.17. doi: 10.1002/0471142735.im1906s105. Curr Protoc Immunol. 2014. PMID: 24700323 Free PMC article. Review.
Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.
Li S, Madanat-Harjuoja L, Leslie G, Barnes DR, Bolla MK, Dennis J, Parsons MT, Apostolou P, Arnold N, Bosse K; EMBRACE Collaborators; Cook J, Engel C, Evans DG, Fostira F, Frone MN, Gehrig A, Greene MH, Hackmann K, Hahnen E, Harbeck N, Hauke J, Hentschel J, Horvath J, Izatt L, Kiechle M, Konstantopoulou I, Lalloo F, Ngeow J, Niederacher D, Ritter J, Santamariña M, Schmutzler RK, Searle C, Sutter C, Tischkowitz M, Tripathi V, Vega A, Wallaschek H, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Zhao E, Easton DF, Antoniou AC, Chenevix-Trench G, Rebbeck TR, Diller LR. Li S, et al. J Natl Cancer Inst. 2025 Apr 1;117(4):728-736. doi: 10.1093/jnci/djae306. J Natl Cancer Inst. 2025. PMID: 39585318
14-3-3ζ-TRAF5 axis governs interleukin-17A signaling.
McGowan J, Peter C, Kim J, Popli S, Veerman B, Saul-McBeth J, Conti H, Pruett-Miller SM, Chattopadhyay S, Chakravarti R. McGowan J, et al. Among authors: conti h. Proc Natl Acad Sci U S A. 2020 Oct 6;117(40):25008-25017. doi: 10.1073/pnas.2008214117. Epub 2020 Sep 23. Proc Natl Acad Sci U S A. 2020. PMID: 32968020 Free PMC article.
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L, Bucknall C, Campbell J, Chandler K, Chauhan J, Clarkson A, Coles R, Conti H, Costello P, Coupar T, Craig A, Dean J, Dillon A, Dixit A, Drew K, Eason J, Forzano F, Foulds N, Gardham A, Ghali N, Green A, Hanna W, Harrison R, Hegarty M, Higgs J, Holder M, Irving R, Jain V, Johnson K, Jolley R, Jones WD, Jones G, Joss S, Kalinauskiene R, Kanani F, Kavanagh K, Khan M, Khan N, Kivuva E, Lahiri N, Lakhani N, Lampe A, Lynch SA, Mansour S, Marsden A, Massey H, McKee S, Mohammed S, Naik S, Nesarajah M, Newbury-Ecob R, Osborne F, Parker MJ, Patterson J, Pottinger C, Prapa M, Prescott K, Quinn S, Radley JA, Robart S, Ross A, Rosti G, Sansbury FH, Sarkar A, Searle C, Shannon N, Shears D, Smithson S, Stewart H, Suri M, Tadros S, Theobald R, Thomas R, Tsoulaki O, Vasudevan P, Rodriguez MV, Vittery E, Whyte S, Woods E, Wright T, Zocche D, Firth HV, Wright CF; DDD Study28. Copeland H, et al. Among authors: conti h. Genet Med Open. 2024 Oct 14;2:101864. doi: 10.1016/j.gimo.2024.101864. eCollection 2024. Genet Med Open. 2024. PMID: 39822267 Free PMC article.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. J Med Genet. 2024 Jul 19;61(8):803-809. doi: 10.1136/jmg-2024-109943. J Med Genet. 2024. PMID: 38834293 Free PMC article.
48 results