Browsing Journal/Magazine Articles by Author "Jackson, A.P."

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Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė, Z.; Bicknell, L.S.; Marsh, J.A.; Murray, J.E.; Parry, D.A.; Logan, C.V.; Bober, M.B.; de Silva, D.C.; Duker, A.L.; Sillence, D.; Wise, C.; Jackson, A.P.; Murina, O.; Reijns, M.A.M. (Wiley-Liss, 2019)

Microcephalic primordial dwarfism (MPD) is a group of rare single-gene disorders characterised by extreme reduction in brain and body size from early development onwards. Proteins encoded by MPD-associated genes play ...
Mutations in CDC45, encoding an essential component of the Pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis

Fenwick, A.L.; Kliszczak, M.; Cooper, F.; Murray, J.; Sanchez-Pulido, L.; Twigg, S.R.; Goriely, A.; McGowan, S.J.; Miller, K.A.; Taylor, I.B.; Logan, C.; Bozdogan, S.; Danda, S.; Dixon, J.; Elsayed, S.M.; Elsobky, E.; Gardham, A.; Hoffer, M.J.; Koopmans, M.; McDonald-McGinn, D.M.; Santen, G.W.; Savarirayan, R.; de Silva, D.; Vanakker, O.; Wall, S.A.; Wilson, L.C.; Yuregir, O.O.; Zackai, E.H.; Ponting, C.P.; Jackson, A.P.; Wilkie, A.; Niedzwiedz, W.; Bicknell, L.S. (University of Chicago Press, 2016)

DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin ...

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