Tomas S Aleman Selected Research

Leber Congenital Amaurosis

1/2018	Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.
1/2011	Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
6/2009	Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
6/2009	Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
9/2008	Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
11/2007	Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
9/2007	Human cone photoreceptor dependence on RPE65 isomerase.
9/2007	Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
6/2007	Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.
5/2007	Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

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Tomas S Aleman Research Topics

Disease

16	Retinal Degeneration 01/2022 - 04/2002
12	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022 - 04/2002
12	Blindness (Hysterical Blindness) 01/2021 - 04/2002
12	Leber Congenital Amaurosis 01/2018 - 04/2004
9	Choroideremia 10/2022 - 03/2002
8	Retinal Diseases 01/2021 - 02/2004
7	Macular Degeneration (Age-Related Maculopathy) 04/2019 - 06/2005
3	Melanoma (Melanoma, Malignant) 01/2022 - 03/2019
3	Ganglion Cysts (Ganglion) 10/2021 - 12/2015
2	Retinal Perforations 10/2022 - 08/2006
2	Macular Edema 11/2021 - 04/2005
2	Inflammation (Inflammations) 01/2020 - 03/2019
2	Atrophy 01/2019 - 06/2005
2	Tauopathies 01/2019 - 10/2017
2	Alzheimer Disease (Alzheimer's Disease) 01/2019 - 10/2017
2	Cone-Rod Dystrophies 10/2018 - 06/2002
2	Ciliopathies 01/2018 - 04/2011
2	Choroidal Neovascularization 12/2016 - 04/2005
2	Disease Progression 02/2012 - 05/2009
2	Usher Syndromes (Usher Syndrome) 07/2011 - 06/2008
2	Diabetic Retinopathy (Retinopathy, Diabetic) 11/2009 - 04/2005
2	Vision Disorders (Hemeralopia) 06/2009 - 04/2004
1	Ischemia 01/2022
1	Retinal Dystrophies 12/2021
1	Low Tension Glaucoma 10/2021
1	Craniosynostoses (Craniosynostosis) 10/2021
1	Breast Neoplasms (Breast Cancer) 04/2019
1	Toxic Optic Neuropathy 03/2019
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2019
1	Cohen syndrome 01/2018
1	Retinoschisis (Retinoschisis, Juvenile) 01/2018
1	Zika Virus Infection 10/2017
1	Intracranial Hypertension 04/2017
1	Bietti Crystalline Dystrophy 12/2016
1	Coloboma (Colobomas) 01/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2013
1	Night Blindness (Nyctalopia) 12/2013
1	Vitamin A Deficiency 12/2013
1	Type Ib Usher Syndrome 10/2011
1	Deaf-Blind Disorders 07/2011
1	Nonsyndromic Deafness 08/2009
1	type 1B Usher syndrome 04/2009
1	Scotoma (Scintillating Scotoma) 04/2008
1	Laminopathies 04/2008
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 11/2006
1	Hypertrophy 09/2006
1	Iron Overload 06/2005
1	Stargardt Disease 03/2004
1	Vitelliform Macular Dystrophy 02/2003
1	Dog Diseases (Disease, Canine) 04/2002
1	Enhanced S-Cone Syndrome 01/2002

Drug/Important Bio-Agent (IBA)

52	Retinaldehyde (Retinal)IBA 01/2022 - 01/2002
7	RetinoidsIBA 12/2013 - 04/2005
4	Rhodopsin (Visual Purple)IBA 09/2016 - 04/2002
3	Complementary DNA (cDNA)IBA 10/2022 - 04/2005
2	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2022 - 03/2019
2	trametinibIBA 01/2022 - 03/2019
2	dabrafenibIBA 01/2022 - 03/2019
2	Hydroxychloroquine (Plaquenil)FDA LinkGeneric 01/2022 - 03/2019
2	SteroidsIBA 11/2021 - 02/2015
2	Amyloid (Amyloid Fibrils)IBA 01/2019 - 10/2017
2	Biomarkers (Surrogate Marker)IBA 01/2019 - 10/2017
2	retinoid isomerohydrolase (retinol isomerase)IBA 06/2009 - 09/2007
2	Proteins (Proteins, Gene)FDA Link 05/2007 - 09/2006
2	Macular PigmentIBA 03/2007 - 03/2002
2	LuteinIBA 03/2007 - 03/2002
1	Indicators and Reagents (Reagents)IBA 01/2021
1	VemurafenibIBA 04/2019
1	pembrolizumabIBA 04/2019
1	RNA Precursors (Precursor, mRNA)IBA 01/2019
1	N 30IBA 01/2019
1	DNA-Binding Proteins (DNA Binding Protein)IBA 10/2017
1	Genetic Markers (Genetic Marker)IBA 10/2017
1	Bevacizumab (Avastin)FDA Link 12/2016
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 12/2015
1	WD repeat containing planar cell polarity effectorIBA 04/2012
1	Myosins (Myosin)IBA 10/2011
1	IsomerasesIBA 12/2010
1	HydrogelsIBA 11/2009
1	Insulin (Novolin)FDA Link 11/2009
1	Protein Isoforms (Isoforms)IBA 08/2009
1	lecithin-retinol acyltransferaseIBA 06/2009
1	Melanins (Melanin)IBA 04/2008
1	GTP Phosphohydrolases (GTPases)IBA 05/2007
1	guanylate cyclase 1IBA 06/2006
1	ferric ferrocyanide (Prussian blue)FDA Link 06/2005
1	Familial apoceruloplasmin deficiencyIBA 06/2005
1	IronIBA 06/2005
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/2005
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 03/2004
1	Chloride Channels (Chloride Channel)IBA 02/2003
1	Transcription Factors (Transcription Factor)IBA 06/2002
1	Ataxin-7IBA 06/2002

Therapy/Procedure

10	Therapeutics 01/2022 - 02/2005
3	Injections 10/2022 - 08/2006
1	Immunotherapy 01/2022