Publications by authors named "Forbes Manson"

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Computational Investigation of Mechanisms for pH Modulation of Human Chloride Channels.
Kathleen Elverson, Sally Freeman, Forbes Manson, Jim Warwicker

Molecules· July 2023

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Ca1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation.
Tal T Sadeh, Richard A Baines, Graeme C Black, Forbes Manson

Front Cell Dev Biol· May 2023

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Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel.
Kathleen Elverson, Jim Warwicker, Sally Freeman, Forbes Manson

Molecules· April 2023

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Small molecules restore the function of mutant CLC5 associated with Dent disease.
Jingshu Liu, Tal T Sadeh, Jonathan D Lippiat, Rajesh V Thakker, Graeme C Black, Forbes Manson

J Cell Mol Med· January 2021

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A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Tal T Sadeh, Graeme C Black, Forbes Manson

Front Genet· January 2021

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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Omamah A Jiman, Rachel L Taylor, Eva Lenassi, Jill Clayton Smith, Sofia Douzgou, Forbes D Manson

Eur J Hum Genet· May 2020

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Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.
Jingshu Liu, Rachel L Taylor, Richard A Baines, Lisa Swanton, Sally Freeman, Forbes Manson

Invest Ophthalmol Vis Sci· May 2020

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A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1.
Shaun R Wood, Michelle E McClements, Cristina Martinez-Fernandez de la Camara, Maria I Patrício, Carolina Uggenti, Forbes D Manson

Hum Gene Ther Methods· April 2019

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Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.
Carolina Uggenti, Kit Briant, Anne-Kathrin Streit, Steven Thomson, Yee Hui Koay, Forbes D Manson

Dis Model Mech· November 2016

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A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
Louise F Porter, Giorgio G Galli, Sally Williamson, Julian Selley, David Knight, Forbes D Manson

Hum Mol Genet· December 2015

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Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
Louise F Porter, Roberto Gallego-Pinazo, Catherine L Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Forbes D Manson

Orphanet J Rare Dis· November 2015

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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
Ivan Conte, Kristen D Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Forbes D C Manson

Proc Natl Acad Sci U S A· June 2015

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Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Judith Lechner, Louise F Porter, Aine Rice, Veronique Vitart, David J Armstrong, Forbes Manson

Hum Mol Genet· October 2014

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Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
Adiv A Johnson, Yong-Suk Lee, Andrew J Chadburn, Paolo Tammaro, Forbes D Manson

Exp Eye Res· April 2014

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Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.
David G Courtney, Sarah D Atkinson, Johnny E Moore, Eleonora Maurizi, Chiara Serafini, Forbes D Manson

Invest Ophthalmol Vis Sci· February 2014

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Marianne Rohrbach, Helen L Spencer, Louise F Porter, Emma M M Burkitt-Wright, Céline Bürer, Forbes D C Manson

Mol Genet Metab· July 2013

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Brittle cornea syndrome: recognition, molecular diagnosis and management.
Emma M M Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Forbes D C Manson

Orphanet J Rare Dis· May 2013

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Focus on molecules: lens intrinsic membrane protein (LIM2/MP20).
Geoffrey J Maher, Graeme C Black, Forbes D Manson

Exp Eye Res· October 2012

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RPGR-associated retinal degeneration in human X-linked RP and a murine model.
Wei Chieh Huang, Alan F Wright, Alejandro J Roman, Artur V Cideciyan, Forbes D Manson

Invest Ophthalmol Vis Sci· August 2012

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Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
Simon C Ramsden, Alice E Davidson, Bart P Leroy, Anthony T Moore, Andrew R Webster, Forbes D C Manson

Eur J Hum Genet· May 2012

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Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.
Louise F Porter, Jill E Urquhart, Eamonn O'Donoghue, A Fiona Spencer, Emma M Wade, Forbes D C Manson

Invest Ophthalmol Vis Sci· October 2011

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Childhood-onset autosomal recessive bestrophinopathy.
Arundhati Dev Borman, Alice E Davidson, James O'Sullivan, Dorothy A Thompson, Anthony G Robson, Forbes D C Manson

Arch Ophthalmol· August 2011

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The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.
Geoffrey J Maher, Emma N Hilton, Jill E Urquhart, Alice E Davidson, Helen L Spencer, Forbes D Manson

FEBS Lett· July 2011

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Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Alice E Davidson, Ian D Millar, Rosemary Burgess-Mullan, Geoffrey J Maher, Jill E Urquhart, Forbes D C Manson

Invest Ophthalmol Vis Sci· June 2011

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Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Emma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, Forbes D C Manson, Leo A H Zeef

Am J Hum Genet· June 2011

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