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Donna S Mackay Selected Research

Autosomal Dominant Cataract

10/2003Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
11/2002A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

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Donna S Mackay Research Topics

Disease

9Cataract (Cataracts)
09/2016 - 11/2002
6Retinal Dystrophies
03/2014 - 03/2010
5Atrophy
06/2014 - 03/2010
3Leber Congenital Amaurosis
01/2012 - 03/2010
2Retinitis Pigmentosa (Pigmentary Retinopathy)
11/2013 - 03/2010
2Macular Degeneration (Age-Related Maculopathy)
03/2013 - 01/2012
2Retinal Degeneration
07/2011 - 03/2011
2Autosomal Dominant Cataract
10/2003 - 11/2002
1Sideroblastic Anemia
09/2016
1Agammaglobulinemia (Hypogammaglobulinemia)
09/2016
1Microcephaly
09/2016
1Obesity
03/2014
1Glaucoma
01/2014
1Vision Disorders (Hemeralopia)
01/2012
1Fundus Albipunctatus
12/2011
1Stargardt Disease
12/2011
1Refractive Errors (Refractive Error)
06/2011
1Telangiectasis (Telangiectasia)
06/2011
1Angle-Closure Glaucoma (Glaucoma, Angle Closure)
06/2011
1Cone-Rod Dystrophies
03/2010
1Pulverulent Cataract
11/2002

Drug/Important Bio-Agent (IBA)

9Retinaldehyde (Retinal)IBA
09/2016 - 01/2011
4Crystallins (Crystallin)IBA
11/2014 - 10/2003
4DNA (Deoxyribonucleic Acid)IBA
11/2013 - 08/2003
3Retinal Pigments (Pigments, Visual)IBA
06/2012 - 01/2011
2Nonsense Codon (Nonsense Mutation)IBA
07/2011 - 11/2002
1Proteins (Proteins, Gene)FDA Link
03/2014
1CationsIBA
01/2014
1Transient Receptor Potential ChannelsIBA
01/2014
1lecithin-retinol acyltransferaseIBA
06/2012
1Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)IBA
07/2011
1Potassium Channels (Potassium Channel)IBA
07/2011
1Retinal DehydrogenaseIBA
01/2011
1c-Mer Tyrosine KinaseIBA
03/2010
1Protein-Tyrosine Kinases (Tyrosine Kinase)IBA
03/2010
1ConnexinsIBA
06/2004
1alpha-Crystallins (alpha-Crystallin)IBA
10/2003
1GalactokinaseIBA
08/2003
1beta-CrystallinsIBA
11/2002
1NucleotidesIBA
11/2002

Therapy/Procedure

2Lenses
02/2007 - 08/2003