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Page 1
Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells.
Makarona K, Caputo VS, Costa JR, Liu B, O'Connor D, Iskander D, Roper D, Robertson L, Bhatnagar N, Terpos E, Georgiou E, Papaioannou M, Layton DM, Luzzatto L, Roberts I, Karadimitris A. Makarona K, et al. Among authors: layton dm. Blood. 2014 Jul 3;124(1):134-41. doi: 10.1182/blood-2014-02-553792. Epub 2014 May 7. Blood. 2014. PMID: 24805191 Free article.
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A. Almeida AM, et al. Among authors: layton dm. Nat Med. 2006 Jul;12(7):846-51. doi: 10.1038/nm1410. Epub 2006 Jun 11. Nat Med. 2006. PMID: 16767100
Targeted therapy for inherited GPI deficiency.
Almeida AM, Murakami Y, Baker A, Maeda Y, Roberts IA, Kinoshita T, Layton DM, Karadimitris A. Almeida AM, et al. Among authors: layton dm. N Engl J Med. 2007 Apr 19;356(16):1641-7. doi: 10.1056/NEJMoa063369. N Engl J Med. 2007. PMID: 17442906 Free article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
A phase 1/2 ascending dose study and open-label extension study of voxelotor in patients with sickle cell disease.
Howard J, Hemmaway CJ, Telfer P, Layton DM, Porter J, Awogbade M, Mant T, Gretler DD, Dufu K, Hutchaleelaha A, Patel M, Siu V, Dixon S, Landsman N, Tonda M, Lehrer-Graiwer J. Howard J, et al. Among authors: layton dm. Blood. 2019 Apr 25;133(17):1865-1875. doi: 10.1182/blood-2018-08-868893. Epub 2019 Jan 17. Blood. 2019. PMID: 30655275 Free PMC article. Clinical Trial.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
116 results