Kathryn P Burdon 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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Kathryn P Burdon Research Topics

Disease

16	Cataract (Cataracts) 10/2021 - 07/2007
15	Glaucoma 01/2020 - 11/2010
12	Diabetic Retinopathy (Retinopathy, Diabetic) 06/2020 - 09/2009
8	Type 2 Diabetes Mellitus (MODY) 02/2022 - 08/2005
7	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2018 - 01/2012
4	Keratoconus 01/2021 - 10/2011
4	Atherosclerosis 01/2010 - 03/2006
3	Macular Degeneration (Age-Related Maculopathy) 01/2021 - 05/2008
3	Fuchs' Endothelial Dystrophy 11/2019 - 06/2012
3	Diabetes Mellitus 08/2016 - 09/2015
3	Exfoliation Syndrome 01/2016 - 03/2008
3	Angle-Closure Glaucoma (Glaucoma, Angle Closure) 03/2013 - 01/2011
3	Cardiovascular Diseases (Cardiovascular Disease) 01/2010 - 01/2007
3	Albuminuria 08/2008 - 04/2005
2	Macular Edema 04/2022 - 02/2022
2	Ganglion Cysts (Ganglion) 01/2019 - 01/2013
2	Iron Overload 03/2017 - 07/2007
2	hereditary Hyperferritinemia with congenital cataracts 03/2017 - 07/2007
2	Graves Disease (Basedow Disease) 01/2016 - 06/2014
2	Diabetes Complications 09/2015 - 05/2012
2	Inflammation (Inflammations) 01/2010 - 08/2005
1	Retinal Vein Occlusion 01/2021
1	Herpetic Keratitis 01/2021
1	Intellectual Disability (Idiocy) 01/2021
1	Genetic Risk Score 01/2020
1	Autoimmune Diseases (Autoimmune Disease) 01/2019
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/2019
1	Multiple Sclerosis 01/2019
1	Brittle cornea syndrome 1 12/2017
1	Seizures (Absence Seizure) 01/2017
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2017
1	Hearing Loss (Hearing Impairment) 01/2017
1	Necrosis 03/2016
1	Adenocarcinoma 01/2016
1	Low Tension Glaucoma 01/2015
1	Graves Ophthalmopathy 06/2014
1	Blindness (Hysterical Blindness) 06/2013
1	Hereditary Corneal Dystrophies 03/2013

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2008
9	trabecular meshwork-induced glucocorticoid response proteinIBA 01/2020 - 01/2012
5	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/2022 - 09/2009
4	Crystallins (Crystallin)IBA 10/2017 - 03/2013
3	Insulin (Novolin)FDA Link 02/2022 - 09/2015
3	CollagenIBA 01/2021 - 03/2013
3	DNA (Deoxyribonucleic Acid)IBA 11/2016 - 01/2015
3	AlbuminsIBA 08/2008 - 04/2005
3	CreatinineIBA 08/2008 - 04/2005
2	Biomarkers (Surrogate Marker)IBA 04/2022 - 01/2010
2	EphrinsIBA 11/2019 - 05/2009
2	Retinaldehyde (Retinal)IBA 01/2019 - 01/2013
2	Ferritins (Ferritin)IBA 03/2017 - 07/2007
2	Lymphotoxin-alpha (Lymphotoxin)IBA 03/2016 - 08/2006
2	Biological ProductsIBA 01/2016 - 01/2007
2	Nitric Oxide Synthase Type III (Endothelial Nitric Oxide Synthase)IBA 03/2013 - 04/2005
2	N,N-dimethylarginine (asymmetric dimethylarginine)IBA 05/2012 - 03/2010
2	Arginine (L-Arginine)FDA Link 04/2012 - 11/2009
2	Hepatocyte Growth Factor (Growth Factor, Hepatocyte)IBA 10/2011 - 01/2011
2	Aldehyde Reductase (Aldose Reductase)IBA 08/2010 - 09/2009
1	RibonucleoproteinsIBA 10/2021
1	Indicators and Reagents (Reagents)IBA 10/2021
1	Cadherins (E-Cadherin)IBA 01/2021
1	Interleukin-8 (Interleukin 8)IBA 01/2021
1	Endothelial Growth FactorsIBA 01/2021
1	Progesterone Receptors (Progesterone Receptor)IBA 01/2021
1	MorpholinosIBA 01/2021
1	SteroidsIBA 01/2021
1	Long Noncoding RNAIBA 01/2021
1	CateninsIBA 01/2021
1	CholesterolIBA 01/2021
1	Apolipoproteins E (ApoE)IBA 11/2019
1	ApolipoproteinsIBA 11/2019
1	Immunoglobulins (Immunoglobulin)IBA 11/2019
1	Transcription Factors (Transcription Factor)IBA 01/2019
1	Calcitriol (Calcijex)FDA LinkGeneric 01/2019
1	MicroRNAs (MicroRNA)IBA 01/2019
1	Vitamin D FDA LinkGeneric 01/2019
1	NADPH Oxidase 4IBA 11/2018
1	Gonadal Steroid Hormones (Sex Hormones)IBA 01/2018
1	Testosterone (Sustanon)FDA Link 01/2018
1	LipidsIBA 12/2017
1	ApoferritinsIBA 03/2017
1	CRISPR-Associated ProteinsIBA 01/2017
1	Basic-Leucine Zipper Transcription FactorsIBA 01/2017
1	Mutant Proteins (Protein, Mutant)IBA 01/2016
1	TIE-2 Receptor (Receptor, TIE 2)IBA 01/2016
1	AngiopoietinsIBA 01/2016
1	Hypoglycemic Agents (Hypoglycemics)IBA 09/2015
1	Hemoglobins (Hemoglobin)IBA 09/2015
1	SeleniumIBA 06/2014
1	Cytochrome P-450 CYP1B1IBA 03/2013

Therapy/Procedure

4	Therapeutics 04/2022 - 04/2016
4	Glycemic Control 06/2020 - 08/2008
2	Injections 04/2022 - 01/2021
2	Lenses 01/2021 - 11/2019
2	Corneal Transplantation (Keratoplasty) 11/2019 - 11/2008
1	Ligation 01/2019
1	Light Coagulation 11/2018
1	Lasers (Laser) 11/2018
1	Vitrectomy 01/2018
1	Transplantation 01/2017