A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment

por Sadeh, Tal T., Black, Graeme C., Manson, Forbes
Publicado 2021

Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel

por Elverson, Kathleen, Warwicker, Jim, Freeman, Sally, Manson, Forbes
Publicado 2023

Computational Investigation of Mechanisms for pH Modulation of Human Chloride Channels

por Elverson, Kathleen, Freeman, Sally, Manson, Forbes, Warwicker, Jim
Publicado 2023

Ca(v)1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation

por Sadeh, Tal T., Baines, Richard A., Black, Graeme C., Manson, Forbes
Publicado 2023

Small molecules restore the function of mutant CLC5 associated with Dent disease

por Liu, Jingshu, Sadeh, Tal T., Lippiat, Jonathan D., Thakker, Rajesh V., Black, Graeme C., Manson, Forbes
Publicado 2020

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

por Uggenti, Carolina, Briant, Kit, Streit, Anne-Kathrin, Thomson, Steven, Koay, Yee Hui, Baines, Richard A., Swanton, Eileithyia, Manson, Forbes D.
Publicado 2016

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

por Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.
Publicado 2015

Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

por Liu, Jingshu, Taylor, Rachel L., Baines, Richard A., Swanton, Lisa, Freeman, Sally, Corneo, Barbara, Patel, Achchhe, Marmorstein, Alan, Knudsen, Travis, Black, Graeme C., Manson, Forbes
Publicado 2020

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

por Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.
Publicado 2010

Brittle cornea syndrome: recognition, molecular diagnosis and management

por Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
Publicado 2013

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

por Jiman, Omamah A., Taylor, Rachel L., Lenassi, Eva, Smith, Jill Clayton, Douzgou, Sofia, Ellingford, Jamie M., Barton, Stephanie, Hardcastle, Claire, Fletcher, Tracy, Campbell, Christopher, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Manson, Forbes D., Black, Graeme C.
Publicado 2019

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

por Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
Publicado 2013