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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 Free PMC article.
Key features in telehealth-delivered cardiac rehabilitation required to optimize cardiovascular health in coronary heart disease: a systematic review and realist synthesis.
Gallegos-Rejas VM, Rawstorn JC, Gallagher R, Mahoney R, Thomas EE. Gallegos-Rejas VM, et al. Among authors: mahoney r. Eur Heart J Digit Health. 2024 Jan 5;5(3):208-218. doi: 10.1093/ehjdh/ztad080. eCollection 2024 May. Eur Heart J Digit Health. 2024. PMID: 38774382 Free PMC article. Review.
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
Towards more tolerable subcutaneous administration: Review of contributing factors for improving combination product design.
Mathias N, Huille S, Picci M, Mahoney RP, Pettis RJ, Case B, Helk B, Kang D, Shah R, Ma J, Bhattacharya D, Krishnamachari Y, Doucet D, Maksimovikj N, Babaee S, Garidel P, Esfandiary R, Gandhi R. Mathias N, et al. Among authors: mahoney rp. Adv Drug Deliv Rev. 2024 Jun;209:115301. doi: 10.1016/j.addr.2024.115301. Epub 2024 Apr 2. Adv Drug Deliv Rev. 2024. PMID: 38570141 Review.
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.
201 results