Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jilly E Hope"'
Autor:
Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill
Publikováno v:
PLoS Genetics, Vol 10, Iss 9, p e1004577 (2014)
Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. In humans, defects specifically affecting motile cilia lead to chronic airway infections, infer
Externí odkaz:
https://doaj.org/article/221a47d3cc01479e8e83de40453586ea
Autor:
Catherine M. Abbott, Laura Kaminioti-Dumont, Colin Smith, Josephine MacDonald, Faith C. J. Davies, Jilly E Hope, Francis Nunez, Grant F. Marshall, Fiona McLachlan, Owen Dando, Oliver Hardt, Vesa Qarkaxhija, Emma R. Wood
Publikováno v:
Davies, F C J, Hope, J E, McLachlan, F, Marshall, G F, Kaminioti-Dumont, L, Qarkaxhija, V, Nunez, F, Dando, O, Smith, C, Wood, E, MacDonald, J, Hardt, O & Abbott, C M 2020, ' Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function ', Human Molecular Genetics, vol. 29, no. 10, pp. 1592–1606 . https://doi.org/10.1093/hmg/ddaa042
Heterozygous de novo mutations in EEF1A2, encoding the tissue-specific translation elongation factor eEF1A2, have been shown to cause neurodevelopmental disorders including often severe epilepsy and intellectual disability. The mutational profile is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb98cc3db8d61e13a59849f9e042664
https://www.pure.ed.ac.uk/ws/files/138719673/D252H_paper_clean_manuscript_plus_figs.pdf
https://www.pure.ed.ac.uk/ws/files/138719673/D252H_paper_clean_manuscript_plus_figs.pdf
