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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391
Low unspliced cell-associated HIV RNA in early treated adolescents living with HIV on long suppressive ART.
Gärtner K, Domínguez-Rodríguez S, Heaney J, Gkouleli T, Grant P, Dorgham K, Sauce D, Soulie C, Busby EJ, O'Sullivan DM, Spyer M, Botha JC, Muñoz-Fernandez MA, Tagarro A, Cotugno N, Huggett JF, Klein N, Palma P, Rojo Conejo P, Foster C, Giaquinto C, Rossi P, Persaud D, De Rossi A, Marcelin AG, Nastouli E. Gärtner K, et al. Among authors: heaney j. Front Immunol. 2024 Feb 20;15:1334236. doi: 10.3389/fimmu.2024.1334236. eCollection 2024. Front Immunol. 2024. PMID: 38444847 Free PMC article.
A GREB1-steroid receptor feedforward mechanism governs differential GREB1 action in endometrial function and endometriosis.
Chadchan SB, Popli P, Liao Z, Andreas E, Dias M, Wang T, Gunderson SJ, Jimenez PT, Lanza DG, Lanz RB, Foulds CE, Monsivais D, DeMayo FJ, Yalamanchili HK, Jungheim ES, Heaney JD, Lydon JP, Moley KH, O'Malley BW, Kommagani R. Chadchan SB, et al. Among authors: heaney jd. Nat Commun. 2024 Mar 2;15(1):1947. doi: 10.1038/s41467-024-46180-4. Nat Commun. 2024. PMID: 38431630 Free PMC article.
GSDMB is increased in IBD and regulates epithelial restitution/repair independent of pyroptosis.
Rana N, Privitera G, Kondolf HC, Bulek K, Lechuga S, De Salvo C, Corridoni D, Antanaviciute A, Maywald RL, Hurtado AM, Zhao J, Huang EH, Li X, Chan ER, Simmons A, Bamias G, Abbott DW, Heaney JD, Ivanov AI, Pizarro TT. Rana N, et al. Among authors: heaney jd. Cell. 2024 Feb 15;187(4):1011-1015. doi: 10.1016/j.cell.2024.01.010. Cell. 2024. PMID: 38364781 No abstract available.
The effects of short-term, progressive exercise training on disease activity in smouldering multiple myeloma and monoclonal gammopathy of undetermined significance: a single-arm pilot study.
Emery A, Moore S, Crowe J, Murray J, Peacock O, Thompson D, Betts F, Rapps S, Ross L, Rothschild-Rodriguez D, Arana Echarri A, Davies R, Lewis R, Augustine DX, Whiteway A, Afzal Z, Heaney J, Drayson MT, Turner JE, Campbell JP. Emery A, et al. Among authors: heaney j. BMC Cancer. 2024 Feb 5;24(1):174. doi: 10.1186/s12885-024-11817-6. BMC Cancer. 2024. PMID: 38317104 Free PMC article.
302 results