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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
Low-dose biliatresone treatment of pregnant mice causes subclinical biliary disease in their offspring: Evidence for a spectrum of neonatal injury.
Gupta K, Xu JP, Diamond T, de Jong IEM, Glass A, Llewellyn J, Theise ND, Waisbourd-Zinman O, Winkler JD, Behrens EM, Mesaros C, Wells RG. Gupta K, et al. Among authors: behrens em. PLoS One. 2024 Apr 5;19(4):e0301824. doi: 10.1371/journal.pone.0301824. eCollection 2024. PLoS One. 2024. PMID: 38578745 Free PMC article.
Comparative Effectiveness of a Second Tumor Necrosis Factor Inhibitor Versus a Non-Tumor Necrosis Factor Biologic in the Treatment of Patients With Polyarticular-Course Juvenile Idiopathic Arthritis.
Mannion ML, Amin S, Balevic S, Chang ML, Correll CK, Kearsley-Fleet L, Hyrich KL, Beukelman T; Childhood Arthritis and Rheumatology Research Alliance Registry Investigators and the UK Juvenile Idiopathic Arthritis Biologics Register Investigators. Mannion ML, et al. Arthritis Care Res (Hoboken). 2024 Mar 31. doi: 10.1002/acr.25339. Online ahead of print. Arthritis Care Res (Hoboken). 2024. PMID: 38556945
Real-world treatment patterns and outcomes in patients with primary hemophagocytic lymphohistiocytosis treated with emapalumab.
Chandrakasan S, Jordan MB, Baker A, Behrens EM, Bhatla D, Chien M, Eckstein OS, Henry MM, Hermiston ML, Hinson AP, Leiding JW, Oladapo A, Patel SA, Pednekar P, Ray AK, Dávila Saldaña B, Sarangi SN, Walkovich KJ, Yee JD, Zoref-Lorenz A, Allen CE. Chandrakasan S, et al. Among authors: behrens em. Blood Adv. 2024 May 14;8(9):2248-2258. doi: 10.1182/bloodadvances.2023012217. Blood Adv. 2024. PMID: 38429096
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.
276 results