J
John R. Ainsworth
Researcher at Children's of Alabama
Publications - 28
Citations - 1446
John R. Ainsworth is an academic researcher from Children's of Alabama. The author has contributed to research in topics: Medicine & Missense mutation. The author has an hindex of 16, co-authored 25 publications receiving 1307 citations.
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Journal ArticleDOI
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Irene A. Aligianis,Colin A. Johnson,Paul Gissen,Dongrong Chen,Daniel J. Hampshire,Katrin Hoffmann,Esther N. Maina,Neil V. Morgan,Louise Tee,Jenny Morton,John R. Ainsworth,Denise Horn,Elisabeth Rosser,Trevor Cole,Irene Stolte-Dijkstra,Karen Fieggen,Jill Clayton-Smith,André Mégarbané,Julian P.H. Shield,Ruth Newbury-Ecob,William B. Dobyns,John M. Graham,Klaus W. Kjaer,Mette Warburg,Jacqueline Bond,Richard C. Trembath,Laura W Harris,Yoshimi Takai,Stefan Mundlos,David Tannahill,C Geoffery Woods,Eamonn R. Maher +31 more
TL;DR: It is hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors.
Journal ArticleDOI
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Danai Bem,Shin-ichiro Yoshimura,Ricardo Nunes-Bastos,Frances F. Bond,Manju A. Kurian,Fatima Rahman,Mark T. Handley,Yavor Hadzhiev,Imran Masood,Ania Straatman-Iwanowska,Andrew R. Cullinane,Alisdair McNeill,Shanaz Pasha,Gail Kirby,Katharine Foster,Zubair Ahmed,Jenny Morton,Denise Williams,John M. Graham,William B. Dobyns,Lydie Burglen,John R. Ainsworth,Paul Gissen,Ferenc Müller,Eamonn R. Maher,Francis A. Barr,Irene A. Aligianis +26 more
TL;DR: The findings imply that RAB18 has a critical role in human brain and eye development and neurodegeneration, and Knockdown of rab18 in zebrafish suggests that it might have a conserved developmental role.
Journal ArticleDOI
The epidemiology of pediatric glaucoma: the Toronto experience.
TL;DR: The ability to control glaucoma in childhood and visual prognosis is highly variable, and particular diagnostic categories do consistently well and some do poorly.
Journal Article
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky Pudlak syndrome (HPS8)
Neil V. Morgan,Shanaz Pasha,John R. Ainsworth,Robin A.J. Eady,Carole McKeown,Richard C. Trembath,Jonathan I. Wilde,Colin A. Johnson,Eamonn R. Maher +8 more
TL;DR: In this paper, a homozygous germline frameshift mutation in BLOC1S3 (p.Gln150ArgfsX75) was identified in all affected individuals.
Journal ArticleDOI
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Samantha Johnson,Michel Michaelides,Irene A. Aligianis,John R. Ainsworth,John D. Mollon,Eamonn R. Maher,A. T. Moore,David M. Hunt +7 more
TL;DR: Current estimates suggest that mutations in CNGB3 account for 40–50% of achromatopsia,14 with mutations inCNGA3 contributing a further 20%.5 There is therefore a significant proportion of patients for whom neither CNGA3 norCNGB3 mutations can be found, and GNAT2 is the third gene to be implicated in achrom atopsia.