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Page 1
LUBAC is essential for embryogenesis by preventing cell death and enabling haematopoiesis.
Peltzer N, Darding M, Montinaro A, Draber P, Draberova H, Kupka S, Rieser E, Fisher A, Hutchinson C, Taraborrelli L, Hartwig T, Lafont E, Haas TL, Shimizu Y, Böiers C, Sarr A, Rickard J, Alvarez-Diaz S, Ashworth MT, Beal A, Enver T, Bertin J, Kaiser W, Strasser A, Silke J, Bouillet P, Walczak H. Peltzer N, et al. Among authors: ashworth mt. Nature. 2018 May;557(7703):112-117. doi: 10.1038/s41586-018-0064-8. Epub 2018 Apr 25. Nature. 2018. PMID: 29695863 Free PMC article.
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.
Kaski JP, Syrris P, Shaw A, Alapi KZ, Cordeddu V, Esteban MT, Jenkins S, Ashworth M, Hammond P, Tartaglia M, McKenna WJ, Elliott PM. Kaski JP, et al. Among authors: ashworth m. Circ Cardiovasc Genet. 2012 Jun;5(3):317-26. doi: 10.1161/CIRCGENETICS.111.960468. Epub 2012 May 15. Circ Cardiovasc Genet. 2012. PMID: 22589294
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
Phadke R, Hedberg-Oldfors C, Scalco RS, Lowe DM, Ashworth M, Novelli M, Vara R, Merwick A, Amer H, Sofat R, Sugarman M, Jovanovic A, Roberts M, Nakou V, King A, Bodi I, Jungbluth H, Oldfors A, Murphy E. Phadke R, et al. J Inherit Metab Dis. 2020 Sep;43(5):1002-1013. doi: 10.1002/jimd.12234. Epub 2020 Apr 16. J Inherit Metab Dis. 2020. PMID: 32187699 Review.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Among authors: ashworth m. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
119 results