David A Mackey Selected Research

hereditary Hyperferritinemia with congenital cataracts

3/2017	Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
7/2007	A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

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David A Mackey Research Topics

Disease

34	Glaucoma 01/2022 - 02/2002
23	Myopia 01/2022 - 07/2009
20	Open-Angle Glaucoma (Glaucoma, Open Angle) 09/2021 - 02/2003
13	Refractive Errors (Refractive Error) 01/2022 - 07/2011
9	Cataract (Cataracts) 01/2021 - 07/2007
6	Retinal Diseases 01/2020 - 07/2013
6	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2017 - 12/2002
6	Retinitis Pigmentosa (Pigmentary Retinopathy) 06/2012 - 02/2002
5	Cardiovascular Diseases (Cardiovascular Disease) 05/2015 - 10/2009
4	Obesity 12/2020 - 01/2009
4	Esotropia (Esophoria) 01/2020 - 12/2003
3	Astigmatism 01/2022 - 01/2013
3	Keratoconus 01/2022 - 01/2018
3	Pterygium 01/2021 - 06/2013
3	Melanoma (Melanoma, Malignant) 01/2019 - 01/2018
2	Blindness (Hysterical Blindness) 09/2021 - 06/2013
2	Retinal Vein Occlusion 01/2021 - 12/2018
2	Inflammation (Inflammations) 01/2021 - 01/2009
2	Genetic Risk Score 01/2021 - 01/2020
2	Birth Weight (Birth Weights) 01/2019 - 09/2006
2	Nevus (Nevi) 01/2019 - 11/2018
2	Iron Overload 03/2017 - 07/2007
2	hereditary Hyperferritinemia with congenital cataracts 03/2017 - 07/2007
2	Neoplasms (Cancer) 01/2017 - 05/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2017 - 07/2009
2	Wounds and Injuries (Trauma) 05/2015 - 04/2010
2	Low Tension Glaucoma 01/2015 - 10/2002
2	Albinism 12/2013 - 12/2003
2	Familial Exudative Vitreoretinopathies 12/2010 - 04/2004
2	Exfoliation Syndrome 09/2008 - 03/2008
1	Uveitis 10/2022
1	Diabetic Retinopathy (Retinopathy, Diabetic) 01/2022
1	Ganglion Cysts (Ganglion) 01/2021
1	Retinitis Pigmentosa 11 01/2021
1	Intellectual Disability (Idiocy) 01/2021
1	Eye Diseases (Eye Disease) 01/2021
1	Pregnancy-Induced Hypertension (Hypertension, Pregnancy Induced) 01/2020
1	Hypertension (High Blood Pressure) 01/2020
1	Obstructive Sleep Apnea 01/2020
1	Amblyopia (Lazy Eye) 01/2020
1	Exotropia (Exophoria) 01/2020
1	Anisometropia 01/2020
1	Choroideremia 01/2020
1	Type 2 Diabetes Mellitus (MODY) 10/2019

Drug/Important Bio-Agent (IBA)

20	Retinaldehyde (Retinal)IBA 10/2022 - 04/2004
20	trabecular meshwork-induced glucocorticoid response proteinIBA 01/2020 - 02/2003
12	DNA (Deoxyribonucleic Acid)IBA 11/2021 - 12/2003
11	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2002
9	Biomarkers (Surrogate Marker)IBA 09/2021 - 07/2012
7	Vitamin D FDA LinkGeneric 01/2022 - 06/2014
6	Biological ProductsIBA 10/2021 - 10/2010
6	Mitochondrial DNA (mtDNA)IBA 01/2018 - 12/2002
5	hydroxide ionIBA 09/2021 - 06/2014
4	Atropine FDA LinkGeneric 01/2021 - 01/2019
3	Ranibizumab (Lucentis)FDA Link 09/2021 - 12/2018
3	Mydriatics (Cycloplegics)IBA 09/2021 - 09/2014
3	RNA Splicing FactorsIBA 01/2021 - 01/2008
3	ORALIT (ORS)IBA 01/2021 - 10/2012
3	Ophthalmic Solutions (Eye Drops)IBA 01/2020 - 01/2019
3	Genetic Markers (Genetic Marker)IBA 01/2018 - 01/2013
3	Melanins (Melanin)IBA 01/2017 - 12/2003
2	CollagenIBA 01/2022 - 01/2018
2	25-hydroxyvitamin DIBA 09/2021 - 01/2019
2	Indicators and Reagents (Reagents)IBA 09/2021 - 01/2018
2	Long Noncoding RNAIBA 01/2021 - 01/2020
2	EphrinsIBA 11/2019 - 05/2009
2	AdiponectinIBA 09/2019 - 01/2019
2	LipidsIBA 09/2019 - 01/2019
2	Insulin (Novolin)FDA Link 01/2019 - 09/2010
2	Glucose (Dextrose)FDA LinkGeneric 01/2019 - 01/2009
2	Ferritins (Ferritin)IBA 03/2017 - 07/2007
2	CaveolinsIBA 08/2014 - 06/2014
1	1-phenyl-3,3-dimethyltriazene (PDT)IBA 09/2021
1	Verteporfin (Visudyne)FDA Link 09/2021
1	Bevacizumab (Avastin)FDA Link 09/2021
1	afliberceptIBA 09/2021
1	2'- deoxythymidylyl- (3'- 5')- 2'- deoxyadenosine (d(AT))IBA 09/2021
1	Latanoprost (Xalatan)FDA Link 01/2021
1	CholesterolIBA 01/2021
1	Progesterone Receptors (Progesterone Receptor)IBA 01/2021
1	Messenger RNA (mRNA)IBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2021
1	MorpholinosIBA 01/2021
1	LeptinIBA 12/2020
1	TabletsIBA 05/2020
1	Vitamin A (Retinol)FDA LinkGeneric 01/2020
1	GlucocorticoidsIBA 01/2020
1	Illicit Drugs (Recreational Drugs)IBA 01/2020
1	MicroRNAs (MicroRNA)IBA 01/2020
1	Blood Glucose (Blood Sugar)IBA 10/2019
1	Contraceptive Agents (Contraceptives)IBA 05/2019
1	SteroidsIBA 05/2019

Therapy/Procedure

6	Therapeutics 01/2022 - 01/2012
3	Contact Lenses 01/2022 - 05/2020
3	Eyeglasses (Spectacles) 01/2021 - 05/2015
2	Lasers (Laser) 01/2021 - 12/2018
2	Refractive Surgical Procedures 08/2015 - 04/2010
1	Continuous Positive Airway Pressure 01/2022
1	Withholding Treatment 01/2020
1	Lenses 11/2019