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Roger F. Massey
Researcher at Hull Royal Infirmary
Publications - 4
Citations - 989
Roger F. Massey is an academic researcher from Hull Royal Infirmary. The author has contributed to research in topics: Aicardi–Goutières syndrome & Aicardi syndrome. The author has an hindex of 4, co-authored 4 publications receiving 902 citations.
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Journal ArticleDOI
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Yanick J. Crow,Yanick J. Crow,Bruce E. Hayward,Rekha Parmar,Peter Robins,Andrea Leitch,Manir Ali,Deborah N. Black,Hans van Bokhoven,Han G. Brunner,Ben C.J. Hamel,Peter Corry,Frances M. Cowan,S Frints,Joerg Klepper,John H. Livingston,Sally Ann Lynch,Roger F. Massey,Jean François Meritet,Jacques L. Michaud,Gérard Ponsot,Thomas Voit,Pierre Lebon,David T. Bonthron,Andrew P. Jackson,Deborah E. Barnes,Tomas Lindahl +26 more
TL;DR: TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity, and failure of which results in the triggering of an abnormal innate immune response.
Journal ArticleDOI
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
Nathaniel H. Robin,Clare Taylor,Donna M. McDonald-McGinn,Elaine H. Zackai,Peter M. Bingham,Kevin Collins,Dawn L. Earl,Deepak Gill,Tiziana Granata,Renzo Guerrini,Naomi T Katz,Virginia Kimonis,Jean-Pierre Lin,David A. Lynch,Shehla Mohammed,Roger F. Massey,Marie T. McDonald,R. Curtis Rogers,Miranda Splitt,Cathy A. Stevens,Marc D. Tischkowitz,Neil Stoodley,Richard J. Leventer,Daniela T. Pilz,William B. Dobyns +24 more
TL;DR: The cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere, suggesting that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation.
Journal ArticleDOI
Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
Yanick J. Crow,Andrew P. Jackson,Emma Roberts,E. van Beusekom,Peter G. Barth,Peter Corry,Colin D. Ferrie,Ben C.J. Hamel,R. Jayatunga,G. Karbani,R. Kalmanchey,A. Kelemen,Mary D. King,Ram L. Kumar,J. Livingstone,Roger F. Massey,Robert McWilliam,A. Meager,Christopher D. Rittey,J. B P Stephenson,John Tolmie,Aad Verrips,Thomas Voit,J.H.L.M. van Bokhoven,Han G. Brunner,C. G. Woods,C. G. Woods +26 more
TL;DR: The data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.
Journal ArticleDOI
Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome
Yanick J. Crow,Roger F. Massey,J.R. Innes,Peter W. Pairaudeau,C. A. Rowland Hill,C.G. Woods,Manir Ali,John H. Livingston,Pierre Lebon,K. Nischall,M. McEntagart,N. Hindocha,Robin M. Winter +12 more
TL;DR: Three children from two families with Aicardi–Goutières syndrome had congenital glaucoma and neuroimaging demonstrated significant brain stem atrophy in the affected sib‐pair, expanding the phenotypic spectrum.