Raheel Qamar Selected Research

Oguchi disease

1/2012	A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.
9/2009	A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

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Raheel Qamar Research Topics

Disease

7	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2018 - 12/2009
6	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2019 - 03/2008
6	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 07/2018 - 12/2010
6	Glaucoma 01/2014 - 10/2009
5	Angle-Closure Glaucoma (Glaucoma, Angle Closure) 01/2013 - 03/2008
2	Macular Degeneration (Age-Related Maculopathy) 01/2019 - 05/2014
2	Hyperhomocysteinemia 06/2018 - 01/2012
2	Diabetic Retinopathy (Retinopathy, Diabetic) 01/2015 - 01/2013
2	Myocardial Infarction 02/2013 - 04/2011
2	Oguchi disease 01/2012 - 09/2009
1	Major Depressive Disorder (Major Depressive Disorders) 04/2022
1	Psoriasis (Pustulosis Palmaris et Plantaris) 01/2022
1	Hypertensive Nephropathy 05/2020
1	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 05/2020
1	Cardiomegaly (Heart Hypertrophy) 05/2020
1	Hypertension (High Blood Pressure) 05/2020
1	Genetic Predisposition to Disease (Genetic Predisposition) 02/2020
1	Neurodevelopmental Disorders 01/2020
1	Cardiomyopathies (Cardiomyopathy) 01/2020
1	Retinal Degeneration 01/2020
1	Infertility (Sterility) 01/2019
1	Inflammation (Inflammations) 01/2019
1	Exfoliation Syndrome 01/2019
1	Atherosclerosis 07/2018
1	Carcinoma (Carcinomatosis) 01/2018
1	Avian Reticuloendotheliosis 01/2017
1	Nonsyndromic Congenital Retinal Nonattachment 01/2017
1	Familial Exudative Vitreoretinopathies 01/2017
1	Lipodystrophy 01/2017
1	Nonsyndromic Deafness 04/2016
1	Gonadal Dysgenesis (Gonadal Agenesis) 10/2015
1	Hereditary macular coloboma 07/2014
1	Atrophy 05/2014
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 04/2013
1	Marfan Syndrome (Marfan's Syndrome) 01/2012

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2020 - 01/2014
4	LipidsIBA 01/2019 - 12/2010
4	LDL Receptors (LDL Receptor)IBA 07/2018 - 09/2011
4	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 06/2018 - 03/2008
2	Matrix Metalloproteinases (MMPs)IBA 01/2019 - 01/2013
2	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 01/2019 - 01/2012
2	oxidized low density lipoproteinIBA 07/2018 - 12/2010
2	DNA (Deoxyribonucleic Acid)IBA 11/2013 - 01/2012
2	NucleotidesIBA 04/2013 - 09/2011
2	CholesterolIBA 07/2012 - 12/2010
2	Nonsense Codon (Nonsense Mutation)IBA 01/2012 - 09/2009
1	ButyrylcholinesteraseIBA 04/2022
1	P-2 (P 2)IBA 01/2022
1	HydrogenIBA 05/2020
1	GasotransmittersIBA 05/2020
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 05/2020
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 02/2020
1	Taurine FDA Link 01/2020
1	taurine transporterIBA 01/2020
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2019
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2019
1	Complement System Proteins (Complement)IBA 01/2019
1	arylesteraseIBA 07/2018
1	LDL Lipoproteins (beta Lipoproteins)IBA 07/2018
1	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 06/2018
1	Chloride Channels (Chloride Channel)IBA 01/2018
1	3' Untranslated Regions (3' UTR)IBA 01/2018
1	TetraspaninsIBA 01/2017
1	Basic Helix-Loop-Helix Transcription FactorsIBA 01/2017
1	Type II Tumor Necrosis Factor ReceptorsIBA 01/2017
1	Type I Tumor Necrosis Factor ReceptorsIBA 01/2017
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2017
1	Low Density Lipoprotein Receptor-Related Protein-5IBA 01/2017
1	Interleukin-6 (Interleukin 6)IBA 01/2017
1	CalciumIBA 04/2016
1	Rhodopsin (Visual Purple)IBA 02/2016
1	FSH Receptors (FSH Receptor)IBA 10/2015
1	Plasminogen Activator Inhibitor 1IBA 01/2015
1	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 01/2015
1	Plasminogen Activators (Plasminogen Activator)IBA 01/2015
1	CytokinesIBA 01/2015
1	RNA Splicing FactorsIBA 07/2014
1	Macular PigmentIBA 05/2014
1	IsomerasesIBA 01/2014
1	Proprotein Convertases (Pro-Opiomelanocortin Converting Enzyme)IBA 06/2013
1	Apolipoproteins B (ApoB)IBA 06/2013
1	SubtilisinIBA 06/2013
1	Lipoproteins (Lipoprotein)IBA 06/2013
1	Genetic Markers (Genetic Marker)IBA 02/2013
1	Untranslated RNA (Noncoding RNA)IBA 02/2013
1	PPAR gammaIBA 01/2013
1	AntigensIBA 01/2012
1	G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)IBA 01/2012
1	Fibrillin-1IBA 01/2012
1	ArrestinIBA 01/2012
1	Phenol (Carbolic Acid)FDA Link 01/2012
1	Plasminogen InactivatorsIBA 04/2011
1	Tissue Plasminogen Activator (Alteplase)FDA Link 04/2011
1	laminin AIBA 12/2010
1	Triglycerides (Triacylglycerol)IBA 12/2010
1	LDL CholesterolIBA 12/2010
1	glutathione S-transferase T1IBA 10/2010
1	Proteoglycans (Proteoglycan)IBA 08/2010
1	HLA-DRB1*04 antigenIBA 08/2010

Therapy/Procedure

1	Therapeutics 05/2020