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Page 1
Iron homeostasis governs erythroid phenotype in polycythemia vera.
Bennett C, Jackson VE, Pettikiriarachchi A, Hayman T, Schaeper U, Moir-Meyer G, Fielding K, Ataide R, Clucas D, Baldi A, Garnham AL, Li-Wai-Suen CSN, Loughran SJ, Baxter EJ, Green AR, Alexander WS, Bahlo M, Burbury K, Ng AP, Pasricha SR. Bennett C, et al. Among authors: jackson ve. Blood. 2023 Jun 29;141(26):3199-3214. doi: 10.1182/blood.2022016779. Blood. 2023. PMID: 36928379 Free PMC article.
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Hildebrand JM, Kauppi M, Majewski IJ, Liu Z, Cox AJ, Miyake S, Petrie EJ, Silk MA, Li Z, Tanzer MC, Brumatti G, Young SN, Hall C, Garnish SE, Corbin J, Stutz MD, Di Rago L, Gangatirkar P, Josefsson EC, Rigbye K, Anderton H, Rickard JA, Tripaydonis A, Sheridan J, Scerri TS, Jackson VE, Czabotar PE, Zhang JG, Varghese L, Allison CC, Pellegrini M, Tannahill GM, Hatchell EC, Willson TA, Stockwell D, de Graaf CA, Collinge J, Hilton A, Silke N, Spall SK, Chau D, Athanasopoulos V, Metcalf D, Laxer RM, Bassuk AG, Darbro BW, Fiatarone Singh MA, Vlahovich N, Hughes D, Kozlovskaia M, Ascher DB, Warnatz K, Venhoff N, Thiel J, Biben C, Blum S, Reveille J, Hildebrand MS, Vinuesa CG, McCombe P, Brown MA, Kile BT, McLean C, Bahlo M, Masters SL, Nakano H, Ferguson PJ, Murphy JM, Alexander WS, Silke J. Hildebrand JM, et al. Among authors: jackson ve. Nat Commun. 2020 Jun 19;11(1):3150. doi: 10.1038/s41467-020-16819-z. Nat Commun. 2020. PMID: 32561755 Free PMC article.
Statistical haemoglobin thresholds to define anaemia across the lifecycle.
Braat S, Fielding K, Han J, Jackson VE, Zaloumis S, Xu JXH, Moir-Meyer G, Blaauwendraad SM, Jaddoe VWV, Gaillard R, Parkin PC, Borkhoff CM, Keown-Stoneman CDG, Birken CS, Maguire JL; Genes & Health Research Team; Bahlo M, Davidson E, Pasricha SR. Braat S, et al. Among authors: jackson ve. medRxiv [Preprint]. 2023 May 25:2023.05.22.23290129. doi: 10.1101/2023.05.22.23290129. medRxiv. 2023. PMID: 37292786 Free PMC article. Preprint.
A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation.
Garnish SE, Martin KR, Kauppi M, Jackson VE, Ambrose R, Eng VV, Chiou S, Meng Y, Frank D, Tovey Crutchfield EC, Patel KM, Jacobsen AV, Atkin-Smith GK, Di Rago L, Doerflinger M, Horne CR, Hall C, Young SN, Cook M, Athanasopoulos V, Vinuesa CG, Lawlor KE, Wicks IP, Ebert G, Ng AP, Slade CA, Pearson JS, Samson AL, Silke J, Murphy JM, Hildebrand JM. Garnish SE, et al. Among authors: jackson ve. Nat Commun. 2023 Sep 28;14(1):6046. doi: 10.1038/s41467-023-41724-6. Nat Commun. 2023. PMID: 37770424 Free PMC article.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J. Khan K, et al. Among authors: jackson ve. Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036918 Free PMC article.
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.
Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M. Johnson JL, et al. Neuron. 2019 Nov 20;104(4):665-679.e8. doi: 10.1016/j.neuron.2019.08.027. Epub 2019 Oct 1. Neuron. 2019. PMID: 31585809 Free PMC article.
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Bonelli R, Jackson VE, Prasad A, Munro JE, Farashi S, Heeren TFC, Pontikos N, Scheppke L, Friedlander M; MacTel Consortium; Egan CA, Allikmets R, Ansell BRE, Bahlo M. Bonelli R, et al. Among authors: jackson ve. Commun Biol. 2021 Apr 9;4(1):473. doi: 10.1038/s42003-021-01972-y. Commun Biol. 2021. PMID: 33837246 Free PMC article. No abstract available.
Self-reported impact of developmental stuttering across the lifespan.
Boyce JO, Jackson VE, van Reyk O, Parker R, Vogel AP, Eising E, Horton SE, Gillespie NA, Scheffer IE, Amor DJ, Hildebrand MS, Fisher SE, Martin NG, Reilly S, Bahlo M, Morgan AT. Boyce JO, et al. Among authors: jackson ve. Dev Med Child Neurol. 2022 Oct;64(10):1297-1306. doi: 10.1111/dmcn.15211. Epub 2022 Mar 21. Dev Med Child Neurol. 2022. PMID: 35307825 Free article.
56 results