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Therapeutic inhibition of the SRC-kinase HCK facilitates T cell tumor infiltration and improves response to immunotherapy.
Poh AR, Love CG, Chisanga D, Steer JH, Baloyan D, Chopin M, Nutt S, Rautela J, Huntington ND, Etemadi N, O'Brien M, O'Keefe R, Ellies LG, Macri C, Mintern JD, Whitehead L, Gangadhara G, Boon L, Chand AL, Lowell CA, Shi W, Pixley FJ, Ernst M. Poh AR, et al. Sci Adv. 2022 Jun 24;8(25):eabl7882. doi: 10.1126/sciadv.abl7882. Epub 2022 Jun 22. Sci Adv. 2022. PMID: 35731867 Free PMC article.
DCLK1 induces a pro-tumorigenic phenotype to drive gastric cancer progression.
Afshar-Sterle S, Carli ALE, O'Keefe R, Tse J, Fischer S, Azimpour AI, Baloyan D, Elias L, Thilakasiri P, Patel O, Ferguson FM, Eissmann MF, Chand AL, Gray NS, Busuttil R, Boussioutas A, Lucet IS, Ernst M, Buchert M. Afshar-Sterle S, et al. Among authors: o keefe r. Sci Signal. 2024 Sep 17;17(854):eabq4888. doi: 10.1126/scisignal.abq4888. Epub 2024 Sep 17. Sci Signal. 2024. PMID: 39288218
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: o keefe rt. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. medRxiv. 2024. PMID: 39417135 Free PMC article. Preprint.
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: o keefe rt. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. PMID: 39371131 Free PMC article. Preprint.
473 results