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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study.
Schlapbach LJ, Ganesamoorthy D, Wilson C, Raman S, George S, Snelling PJ, Phillips N, Irwin A, Sharp N, Le Marsney R, Chavan A, Hempenstall A, Bialasiewicz S, MacDonald AD, Grimwood K, Kling JC, McPherson SJ, Blumenthal A, Kaforou M, Levin M, Herberg JA, Gibbons KS, Coin LJM; EUCLIDS consortium; RAPIDS Study Group. Schlapbach LJ, et al. Lancet Child Adolesc Health. 2024 May;8(5):325-338. doi: 10.1016/S2352-4642(24)00017-8. Epub 2024 Mar 19. Lancet Child Adolesc Health. 2024. PMID: 38513681
Preclinical Characterization of the Anti-Leukemia Activity of the CD33/CD16a/NKG2D Immune-Modulating TriNKET® CC-96191.
Lunn-Halbert MC, Laszlo GS, Erraiss S, Orr MT, Jessup HK, Thomas HJ, Chan H, Jahromi MA, Lloyd J, Cheung AF, Chang GP, Dichwalkar T, Fallon D, Grinberg A, Rodríguez-Arbolí E, Lim SYT, Kehret AR, Huo J, Cole FM, Scharffenberger SC, Walter RB. Lunn-Halbert MC, et al. Among authors: cole fm. Cancers (Basel). 2024 Feb 22;16(5):877. doi: 10.3390/cancers16050877. Cancers (Basel). 2024. PMID: 38473239 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
747 results