Graeme C Black Selected Research

lecithin-retinol acyltransferase

6/2012

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

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Graeme C Black Research Topics

Disease

3	Retinal Dystrophies 11/2020 - 06/2012
2	Hearing Loss (Hearing Impairment) 03/2024 - 01/2019
2	Amelogenesis Imperfecta 03/2024 - 10/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 03/2024 - 01/2016
2	Atrial Heart Septal Defects (Atrial Septal Defect) 07/2023 - 12/2022
2	congenital stationary Night blindness 01/2023 - 09/2022
2	Albinism 01/2022 - 01/2020
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2020 - 04/2007
2	Vitelliform Macular Dystrophy 11/2020 - 01/2011
2	Cataract (Cataracts) 01/2020 - 07/2011
2	Choroideremia 10/2018 - 05/2016
2	Brittle cornea syndrome 1 12/2015 - 10/2014
1	Intellectual Disability (Idiocy) 03/2024
1	Gyrate Atrophy 01/2023
1	Chromosome 15q13.3 Microdeletion Syndrome 09/2022
1	Choroidal Neovascularization 01/2021
1	Dent Disease 01/2021
1	Inborn Urea Cycle Disorders 01/2021
1	Vision Disorders (Hemeralopia) 01/2021
1	Bestrophinopathy 11/2020
1	Glaucoma 01/2020
1	Ectopia Lentis 01/2020
1	Blindness (Hysterical Blindness) 10/2018
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2017
1	Eye Diseases (Eye Disease) 01/2016
1	Connective Tissue Diseases (Connective Tissue Disease) 12/2015
1	Malformed Nails (Pachyonychia) 10/2015
1	Deafness enamel hypoplasia nail defects 10/2015
1	Sensorineural Hearing Loss 10/2015
1	Keratoconus 10/2014
1	Hereditary Corneal Dystrophies 02/2014
1	Lattice corneal dystrophy type 1 02/2014
1	Gonadal dysgenesis XX type deafness 04/2013
1	Atrophy 06/2012
1	Neoplasms (Cancer) 04/2012
1	Autosomal Dominant Cataract 07/2011
1	Kabuki syndrome 07/2011
1	Angle-Closure Glaucoma (Glaucoma, Angle Closure) 01/2011
1	Pituitary Dwarfism 10/2009

Drug/Important Bio-Agent (IBA)

10	Retinaldehyde (Retinal)IBA 01/2023 - 06/2012
6	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2011
2	Long Noncoding RNAIBA 07/2023 - 12/2022
2	ChromatinIBA 04/2012 - 07/2011
1	plexinIBA 03/2024
1	OrnithineIBA 01/2023
1	Transaminases (Aminotransferases)IBA 01/2023
1	Calcium Channels (Calcium Channel)IBA 01/2023
1	EnzymesIBA 01/2023
1	Monophenol Monooxygenase (Tyrosinase)IBA 01/2022
1	Bevacizumab (Avastin)FDA Link 01/2021
1	BestrophinsIBA 11/2020
1	4-phenylbutyric acid (Buphenyl)FDA Link 11/2020
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2019
1	SteroidsIBA 01/2017
1	NucleotidesIBA 01/2016
1	Histones (Histone)IBA 12/2015
1	Transcription Factors (Transcription Factor)IBA 12/2015
1	Small Interfering RNA (siRNA)IBA 02/2014
1	Peptide Hydrolases (Proteases)FDA Link 04/2013
1	Histidine-tRNA LigaseIBA 04/2013
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 04/2013
1	Adenosine Triphosphate (ATP)IBA 04/2013
1	Retinal Pigments (Pigments, Visual)IBA 06/2012
1	lecithin-retinol acyltransferaseIBA 06/2012
1	ClaudinsIBA 07/2011
1	Histone MethyltransferasesIBA 07/2011
1	acceleratory factor from growth hormone (AcG)IBA 01/2011
1	Amino Acids FDA Link 01/2011
1	polyalanineIBA 10/2009
1	GTP Phosphohydrolases (GTPases)IBA 04/2007

Therapy/Procedure

2	Therapeutics 01/2021 - 10/2018
1	Injections 01/2021
1	Vitrectomy 01/2020
1	Corneal Transplantation (Keratoplasty) 10/2014
1	Precision Medicine 02/2014