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486 results

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Page 1
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein TE, Korf B, Misra A, Paalman MH, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, Cutting GR. Higgins J, et al. Among authors: davies ke. Hum Mutat. 2021 Jan;42(1):3-7. doi: 10.1002/humu.24144. Epub 2020 Dec 10. Hum Mutat. 2021. PMID: 33252176 Free PMC article.
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins.
Moghadaszadeh B, Albrechtsen R, Guo LT, Zaik M, Kawaguchi N, Borup RH, Kronqvist P, Schroder HD, Davies KE, Voit T, Nielsen FC, Engvall E, Wewer UM. Moghadaszadeh B, et al. Among authors: davies ke. Hum Mol Genet. 2003 Oct 1;12(19):2467-79. doi: 10.1093/hmg/ddg264. Epub 2003 Aug 5. Hum Mol Genet. 2003. PMID: 12915458
Personal journeys to and in human genetics and dysmorphology.
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: davies ke. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159
Therapeutic approaches for Duchenne muscular dystrophy.
Roberts TC, Wood MJA, Davies KE. Roberts TC, et al. Among authors: davies ke. Nat Rev Drug Discov. 2023 Nov;22(11):917-934. doi: 10.1038/s41573-023-00775-6. Epub 2023 Aug 31. Nat Rev Drug Discov. 2023. PMID: 37652974 Review.
Evaluating the efficacy and safety of a novel prophylactic nasal spray in the prevention of SARS-CoV-2 infection: A multi-centre, double blind, placebo-controlled, randomised trial.
Balmforth D, Swales JA, Silpa L, Dunton A, Davies KE, Davies SG, Kamath A, Gupta J, Gupta S, Masood MA, McKnight Á, Rees D, Russell AJ, Jaggi M, Uppal R. Balmforth D, et al. Among authors: davies ke. J Clin Virol. 2022 Oct;155:105248. doi: 10.1016/j.jcv.2022.105248. Epub 2022 Jul 25. J Clin Virol. 2022. PMID: 35952426 Free PMC article. Clinical Trial.
Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.
Meijboom KE, Sutton ER, McCallion E, McFall E, Anthony D, Edwards B, Kubinski S, Tapken I, Bünermann I, Hazell G, Ahlskog N, Claus P, Davies KE, Kothary R, Wood MJA, Bowerman M. Meijboom KE, et al. Among authors: davies ke. Skelet Muscle. 2022 Jul 28;12(1):18. doi: 10.1186/s13395-022-00301-z. Skelet Muscle. 2022. PMID: 35902978 Free PMC article.
Structure-activity relationships of 2-pyrimidinecarbohydrazides as utrophin modulators for the potential treatment of Duchenne muscular dystrophy.
Chatzopoulou M, Conole D, Emer E, Rowley JA, Willis NJ, Squire SE, Gill B, Brough S, Wilson FX, Wynne GM, Davies SG, Davies KE, Russell AJ. Chatzopoulou M, et al. Among authors: davies ke. Bioorg Med Chem. 2022 Sep 1;69:116812. doi: 10.1016/j.bmc.2022.116812. Epub 2022 May 18. Bioorg Med Chem. 2022. PMID: 35772287 Free article.
Control of backbone chemistry and chirality boost oligonucleotide splice switching activity.
Kandasamy P, McClorey G, Shimizu M, Kothari N, Alam R, Iwamoto N, Kumarasamy J, Bommineni GR, Bezigian A, Chivatakarn O, Butler DCD, Byrne M, Chwalenia K, Davies KE, Desai J, Shelke JD, Durbin AF, Ellerington R, Edwards B, Godfrey J, Hoss A, Liu F, Longo K, Lu G, Marappan S, Oieni J, Paik IH, Estabrook EP, Shivalila C, Tischbein M, Kawamoto T, Rinaldi C, Rajão-Saraiva J, Tripathi S, Yang H, Yin Y, Zhao X, Zhou C, Zhang J, Apponi L, Wood MJA, Vargeese C. Kandasamy P, et al. Among authors: davies ke. Nucleic Acids Res. 2022 Jun 10;50(10):5443-5466. doi: 10.1093/nar/gkac018. Nucleic Acids Res. 2022. PMID: 35061895 Free PMC article.
486 results