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Page 1
Targeting of CD38 by the Tumor Suppressor miR-26a Serves as a Novel Potential Therapeutic Agent in Multiple Myeloma.
Hu Y, Liu H, Fang C, Li C, Xhyliu F, Dysert H, Bodo J, Habermehl G, Russell BE, Li W, Chappell M, Jiang X, Ondrejka SL, Hsi ED, Maciejewski JP, Yi Q, Anderson KC, Munshi NC, Ao G, Valent JN, Lin J, Zhao J. Hu Y, et al. Among authors: russell be. Cancer Res. 2020 May 15;80(10):2031-2044. doi: 10.1158/0008-5472.CAN-19-1077. Epub 2020 Mar 19. Cancer Res. 2020. PMID: 32193289 Free PMC article.
Symptomatic, biochemical and radiographic recovery in patients with COVID-19.
Mallia P, Meghji J, Wong B, Kumar K, Pilkington V, Chhabra S, Russell B, Chen J, Srikanthan K, Park M, Owles H, Liew F, Alcada J, Martin L, Coleman M, Elkin S, Ross C, Agrawal S, Gardiner T, Bell A, White A, Hampson D, Vithlani G, Manalan K, Bramer S, Martin Segura A, Kucheria A, Ratnakumar P, Sheeka A, Anandan L, Copley S, Russell G, Bloom CI, Kon OM. Mallia P, et al. BMJ Open Respir Res. 2021 Apr;8(1):e000908. doi: 10.1136/bmjresp-2021-000908. BMJ Open Respir Res. 2021. PMID: 33827856 Free PMC article.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. Mostovoy Y, et al. Among authors: russell be. Am J Hum Genet. 2024 Nov 5:S0002-9297(24)00375-6. doi: 10.1016/j.ajhg.2024.10.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39520989
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: russell be. HGG Adv. 2024 Oct 10;5(4):100349. doi: 10.1016/j.xhgg.2024.100349. Epub 2024 Aug 29. HGG Adv. 2024. PMID: 39210597 Free PMC article.
Data-driven prioritization of genetic disorders for global genomic newborn screening programs.
Minten T, Gold NB, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D, Green RC; International Consortium on Newborn Sequencing (ICoNS). Minten T, et al. Among authors: russell be. medRxiv [Preprint]. 2024 Sep 16:2024.03.24.24304797. doi: 10.1101/2024.03.24.24304797. medRxiv. 2024. PMID: 38585998 Free PMC article. Preprint.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Pisan E, De Luca C, Brancati F, Sanchez Russo R, Li D, Bhoj E, Wenger T, Marwaha A, Johnson N, Beneteau C, Brischoux-Boucher E, Houge G, Paulsen J, Hammer TB, Ek J, Schweitzer D, Russell BE, Dutra-Clarke M, Nelson S, Douine ED, Corona RI, Dudding T, Thomson H, Low K, Belnap N, Iascone M, Priolo M, Carli D, Mussa A, Bijlsma EK, Kopp N, Jais JP, Amiel J, Gordon CT. Pisan E, et al. Among authors: russell be. Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2317601121. doi: 10.1073/pnas.2317601121. Epub 2024 Mar 11. Proc Natl Acad Sci U S A. 2024. PMID: 38466850 Free PMC article. No abstract available.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. Scala M, et al. Among authors: russell be. medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383. medRxiv. 2023. PMID: 38234782 Free PMC article. Preprint.
32 results