Gavin Arno Selected Research

Retinitis Pigmentosa (Pigmentary Retinopathy)

10/2022	Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
11/2020	Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
1/2020	A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
1/2018	Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
1/2018	Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
11/2016	Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

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Gavin Arno Research Topics

Disease

13	Retinal Dystrophies 09/2023 - 05/2014
9	Atrophy 12/2020 - 09/2016
6	Retinitis Pigmentosa (Pigmentary Retinopathy) 10/2022 - 11/2016
4	Retinal Diseases 01/2024 - 08/2016
3	Ciliopathies 11/2022 - 01/2017
3	Myopia 10/2022 - 03/2013
3	Cone-Rod Dystrophies 01/2020 - 01/2019
2	Stargardt Disease 09/2020 - 01/2019
2	Leber Congenital Amaurosis 01/2020 - 01/2020
2	Macular Degeneration (Age-Related Maculopathy) 01/2020 - 01/2019
2	Microcephaly 11/2019 - 09/2016
2	Retinal Degeneration 01/2018 - 04/2017
1	Long QT Syndrome 12/2023
1	Parkinson Disease (Parkinson's Disease) 12/2023
1	Cystic Kidney Diseases (Cystic Kidney Disease) 12/2023
1	Short Qt Syndrome 12/2023
1	Rare Diseases (Rare Disease) 12/2023
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2023
1	Glucose Intolerance 12/2023
1	Tremor (Tremors) 12/2023
1	Seizures (Absence Seizure) 12/2023
1	Epilepsy (Aura) 12/2023
1	Hearing Loss (Hearing Impairment) 12/2023
1	Neovascular Glaucoma 10/2022
1	Apraxias (Dyspraxia) 10/2022
1	Retinal Detachment (Retinal Detachments) 10/2022
1	Optic Atrophy 12/2021
1	Agenesis of Cerebellar Vermis 06/2021
1	Oguchi disease 01/2021
1	congenital stationary Night blindness 01/2021
1	Blindness (Hysterical Blindness) 12/2020
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2020
1	Retinitis Pigmentosa 2 01/2020
1	Coloboma (Colobomas) 01/2020
1	Cardiac Arrhythmias (Arrythmia) 01/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2019
1	Ocular Albinism 03/2018
1	Cysts 01/2018
1	Vision Disorders (Hemeralopia) 12/2017
1	Brachydactyly 04/2017
1	Craniofacial Abnormalities 04/2017
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2017
1	Cataract (Cataracts) 09/2016
1	Agammaglobulinemia (Hypogammaglobulinemia) 09/2016
1	Sideroblastic Anemia 09/2016
1	Autosomal Recessive Microcephaly with Chorioretinopathy 04/2015
1	Laurence-Moon Syndrome (Syndrome, Laurence-Moon) 02/2015
1	Eye Diseases (Eye Disease) 11/2014
1	Marfan Syndrome (Marfan's Syndrome) 09/2014
1	Ectopia Lentis 03/2013
1	Craniosynostoses (Craniosynostosis) 03/2013
1	Synostosis 03/2013
1	Atherosclerotic Plaque (Atheroma) 10/2008
1	Supraventricular Tachycardia 06/2004
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 06/2004
1	Atrial Fibrillation 06/2004
1	Acute Coronary Syndrome 03/2004

Drug/Important Bio-Agent (IBA)

29	Retinaldehyde (Retinal)IBA 12/2023 - 11/2014
8	Proteins (Proteins, Gene)FDA Link 12/2023 - 01/2017
3	TubulinIBA 11/2016 - 05/2014
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2023 - 01/2019
2	Mitochondrial DNA (mtDNA)IBA 12/2021 - 06/2004
2	Adenosine Triphosphate (ATP)IBA 09/2020 - 11/2016
1	5' Untranslated Regions (5' UTR)IBA 01/2024
1	Macromolecular SubstancesIBA 11/2022
1	coenzyme Q10 (CoQ10)IBA 10/2022
1	laminin 1IBA 10/2022
1	dihydroceramide desaturaseIBA 01/2021
1	G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)IBA 01/2021
1	Guanylate Cyclase (Guanylyl Cyclase)IBA 01/2020
1	AcetyltransferasesIBA 01/2020
1	Glutamic Acid (Glutamate)FDA Link 06/2019
1	Antisense OligonucleotidesIBA 01/2019
1	NucleotidesIBA 01/2019
1	diphosphoric acid (pyrophosphoric acid)IBA 01/2018
1	Chloride Channels (Chloride Channel)IBA 01/2018
1	Carrier Proteins (Binding Protein)IBA 01/2018
1	ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA 01/2018
1	Retinal Pigments (Pigments, Visual)IBA 02/2017
1	SteroidsIBA 01/2017
1	GTP-Binding Proteins (G-Protein)IBA 11/2016
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2016
1	Nonsense Codon (Nonsense Mutation)IBA 04/2015
1	interstitial retinol-binding proteinIBA 04/2015
1	neurotoxic esteraseIBA 02/2015
1	Threonine (L-Threonine)FDA Link 09/2014
1	Fibrillin-1IBA 09/2014
1	Isoleucine (L-Isoleucine)FDA Link 09/2014
1	Codon (Codons)IBA 09/2014
1	Transforming Growth Factor-beta Type II ReceptorIBA 03/2013
1	Dihydrotachysterol (AT 10)IBA 03/2013
1	PerforinIBA 10/2008
1	Heat-Shock Proteins (Heat-Shock Protein)IBA 03/2004

Therapy/Procedure

3	Therapeutics 09/2023 - 01/2019