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Articles August 2020

Validating Fluorescent Chrnb4.EGFP Mouse Models for the Study of Cone Photoreceptor Degeneration

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Alicia A. Brunet; Paula I. Fuller-Carter; Annie L. Miller; Valentina Voigt; Sophia Vasiliou; Rabab Rashwan; David M. Hunt; Livia S. Carvalho
TAGS: mice, retinal cone, tissue degeneration
Trans. Vis. Sci. Tech.. 2020; 9(9):28. https://doi.org/10.1167/tvst.9.9.28

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Pathophysiology of voltage-gated potassium channels in a mouse model of cone-rod dystrophy

Xiaotian Jiang; David M Hunt; Livia S Carvalho

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):457.

ARVO Annual Meeting Abstract July 2018

Validation and comparison of Achromatopsia mouse lines expressing a fluorescent marker in cone photoreceptors

Livia S Carvalho; Valentina Voigt; Iona Schuster; Paula Fuller-Carter; Juan Pablo Quesada; Sophia Vasiliou; David M Hunt

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):970.

ARVO Annual Meeting Abstract July 2018

Role of the voltage-gated potassium channel subunit Kv8.2 in inherited retinal disease and interaction with other channel proteins

David M Hunt; Nathan Hart; Jessica K Mountford; Melanie Barth; Paula Fuller-Carter; Livia S Carvalho

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2328.

ARVO Annual Meeting Abstract April 2014

Variation in the L and M cone opsin genes as a causative factor in myopia

Jessica Kate Mountford; Wayne I Davies; John N De Roach; Terri L McLaren; Tina M Lamey; David A Mackey; David M Hunt

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1350.

Biochemistry and Molecular Biology February 2013

Variations in Opsin Coding Sequences Cause X-Linked Cone Dysfunction Syndrome with Myopia and Dichromacy

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Michelle McClements; Wayne I. L. Davies; Michel Michaelides; Terri Young; Maureen Neitz; Robert E. MacLaren; Anthony T. Moore; David M. Hunt
TAGS: exons, family, genes, myopia, opsin, retinal cone, syndrome, pathophysiology, x-linked inheritance, pigment
Invest. Ophthalmol. Vis. Sci.. 2013; 54(2):1361-1369. https://doi.org/10.1167/iovs.12-11156

Multidisciplinary Ophthalmic Imaging December 2012

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic

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Joseph Carroll; Alfredo Dubra; Jessica C. Gardner; Liliana Mizrahi-Meissonnier; Robert F. Cooper; Adam M. Dubis; Rick Nordgren; Mohamed Genead; Thomas B. Connor, Jr; Kimberly E. Stepien; Dror Sharon; David M. Hunt; Eyal Banin; Alison J. Hardcastle; Anthony T. Moore; David R. Williams; Gerald Fishman; Jay Neitz; Maureen Neitz; Michel Michaelides
TAGS: mosaicism, mutation, opsin, phenotype, photoreceptors, retinal cone, retina, personal integrity
Invest. Ophthalmol. Vis. Sci.. 2012; 53(13):8006-8015. https://doi.org/10.1167/iovs.12-11087

Includes: Supplemental Content

Retina September 2010

The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

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Michel Michaelides; Marie-Claire Gaillard; Pascal Escher; Leila Tiab; Matthew Bedell; François-Xavier Borruat; Daniel Barthelmes; Ruben Carmona; Kang Zhang; Edward White; Michelle McClements; Anthony G. Robson; Graham E. Holder; Keith Bradshaw; David M. Hunt; Andrew R. Webster; Anthony T. Moore; Daniel F. Schorderet; Francis L. Munier
TAGS: eye, family, macular disorders, macular dystrophy, mutation, retinal cone, rod photoreceptors, atrophy, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(9):4771-4780. https://doi.org/10.1167/iovs.09-4561

Lens December 2009

A Mutant Connexin50 with Enhanced Hemichannel Function Leads to Cell Death

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Peter J. Minogue; Jun-Jie Tong; Anita Arora; Isabelle Russell-Eggitt; David M. Hunt; Anthony T. Moore; Lisa Ebihara; Eric C. Beyer; Viviana M. Berthoud
TAGS: cell death, complementary rna, gap junction protein, hela cells, oocytes, proteins, xenopus, apoptosis, cataract, dna
Invest. Ophthalmol. Vis. Sci.. 2009; 50(12):5837-5845. https://doi.org/10.1167/iovs.09-3759

Biochemistry and Molecular Biology April 2009

Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies

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Ravikanth Metlapally; Michel Michaelides; Anuradha Bulusu; Yi-Ju Li; Marianne Schwartz; Thomas Rosenberg; David M. Hunt; Anthony T. Moore; Stephan Züchner; Catherine Bowes Rickman; Terri L. Young
TAGS: color vision defect, copy number polymorphism, dna, genetic pedigree, myopia, pathophysiology, polymerase chain reaction, retinal cone, screening, x-linked inheritance
Invest. Ophthalmol. Vis. Sci.. 2009; 50(4):1552-1558. https://doi.org/10.1167/iovs.08-2455

Includes: Supplemental Content

Retina May 2008

Phenotypic Variation in Enhanced S-cone Syndrome

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Isabelle Audo; Michel Michaelides; Anthony G. Robson; Marko Hawlina; Veronika Vaclavik; Jennifer M. Sandbach; Magella M. Neveu; Chris R. Hogg; David M. Hunt; Anthony T. Moore; Alan C. Bird; Andrew R. Webster; Graham E. Holder
TAGS: mutation, phenotype, retinal cone, syndrome, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2008; 49(5):2082-2093. https://doi.org/10.1167/iovs.05-1629

OSA Fall Vision Meeting Abstract December 2006

Molecular evolution of colour vision in primates

David M. Hunt

Journal of Vision. 2006; 6(13):34. https://doi.org/10.1167/6.13.34

Retina June 2004

Progressive Cone Dystrophy Associated with Mutation in CNGB3

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Michel Michaelides; Irene A. Aligianis; John R. Ainsworth; Peter Good; John D. Mollon; Eamonn R. Maher; Anthony T. Moore; David M. Hunt
TAGS: mutation, progressive cone-rod dystrophy, achromatopsia, retinal cone, cyclic gmp, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2004; 45(6):1975-1982. https://doi.org/10.1167/iovs.03-0898

Biochemistry and Molecular Biology October 2003

Expression of PRPF31 mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?

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Eranga N. Vithana; Leen Abu-Safieh; Lucia Pelosini; Elizabeth Winchester; Dan Hornan; Alan C. Bird; David M. Hunt; Stephen A. Bustin; Shomi S. Bhattacharya
TAGS: cell lines, dominant autosomal hereditary disorder with incomplete penetrance, retinitis pigmentosa, rna, rna, messenger, proteins, western blotting, blood cells
Invest. Ophthalmol. Vis. Sci.. 2003; 44(10):4204-4209. https://doi.org/10.1167/iovs.03-0253

Retina May 2003

An Early-Onset Autosomal Dominant Macular Dystrophy (MCDR3) Resembling North Carolina Macular Dystrophy Maps to Chromosome 5

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Michel Michaelides; Samantha Johnson; Alok K. Tekriwal; Graham E. Holder; Caren Bellmann; Esther Kinning; Geoffrey Woodruff; Richard C. Trembath; David M. Hunt; Anthony T. Moore
TAGS: chromosomes, human, pair 5, macular dystrophy, maps, genetic linkage analysis
Invest. Ophthalmol. Vis. Sci.. 2003; 44(5):2178-2183. https://doi.org/10.1167/iovs.02-1094

Retina April 2003

An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4

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Michel Michaelides; Samantha Johnson; Arabella Poulson; Keith Bradshaw; Caren Bellmann; David M. Hunt; Anthony T. Moore
TAGS: arm of chromosome, eye, macular dystrophy, maps, genetic linkage analysis
Invest. Ophthalmol. Vis. Sci.. 2003; 44(4):1657-1662. https://doi.org/10.1167/iovs.02-0941

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Validating Fluorescent Chrnb4.EGFP Mouse Models for the Study of Cone Photoreceptor Degeneration

Pathophysiology of voltage-gated potassium channels in a mouse model of cone-rod dystrophy

Validation and comparison of Achromatopsia mouse lines expressing a fluorescent marker in cone photoreceptors

Role of the voltage-gated potassium channel subunit Kv8.2 in inherited retinal disease and interaction with other channel proteins

Variation in the L and M cone opsin genes as a causative factor in myopia

Variations in Opsin Coding Sequences Cause X-Linked Cone Dysfunction Syndrome with Myopia and Dichromacy

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic

The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

A Mutant Connexin50 with Enhanced Hemichannel Function Leads to Cell Death

Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies

Phenotypic Variation in Enhanced S-cone Syndrome

Molecular evolution of colour vision in primates

Progressive Cone Dystrophy Associated with Mutation in CNGB3

Expression of PRPF31 mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?

An Early-Onset Autosomal Dominant Macular Dystrophy (MCDR3) Resembling North Carolina Macular Dystrophy Maps to Chromosome 5

An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4

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