Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Forbes D. C. Manson"'
Autor:
Rajesh V. Thakker, Forbes D C Manson, Jingshu Liu, Graeme C.M. Black, Jonathan D. Lippiat, Tal T. Sadeh
Publikováno v:
Journal of Cellular and Molecular Medicine
Liu, J, Sadeh, T T, Lippiat, J D, Thakker, R V, Black, G C & Manson, F 2020, ' Small molecules restore the function of mutant CLC5 associated with Dent disease ', Journal of cellular and molecular medicine, vol. 25, no. 2, pp. 1319-1322 . https://doi.org/10.1111/jcmm.16091, https://doi.org/10.1111/jcmm.v25.2
Liu, J, Sadeh, T T, Lippiat, J D, Thakker, R V, Black, G C & Manson, F 2020, ' Small molecules restore the function of mutant CLC5 associated with Dent disease ', Journal of cellular and molecular medicine, vol. 25, no. 2, pp. 1319-1322 . https://doi.org/10.1111/jcmm.16091, https://doi.org/10.1111/jcmm.v25.2
Dent disease type 1 is caused by mutations in the CLCN5 gene that encodes CLC5, a 2Cl−/H+ exchanger. The CLC5 mutants that have been functionally analysed constitute three major classes based on protein expression, cellular localization and channel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ecea3b2d21b0ccde2145a741533279
https://doi.org/10.1111/jcmm.16091
https://doi.org/10.1111/jcmm.16091
Autor:
Jingshu Liu, Forbes D C Manson, Travis Knudsen, Rachel L. Taylor, Richard A. Baines, Barbara Corneo, Graeme C.M. Black, Lisa Swanton, Sally Freeman, Alan D. Marmorstein, Achchhe Patel
Publikováno v:
Liu, J, Taylor, R L, Baines, R, Swanton, E, Freeman, S, Corneo, B, Patel, A, Marmorstein, A, Knudson, T, Black, G & Manson, F 2020, ' Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium. ', Investigative ophthalmology & visual science, vol. 61, no. 5, 28 . https://doi.org/10.1167/iovs.61.5.28
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science
Purpose: Bestrophinopathies are a group of untreatable inherited retinal dystrophies caused by mutations in the retinal pigment epithelium (RPE) Cl− channel bestrophin 1. We tested whether sodium phenylbutyrate (4PBA) could rescue the function of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26b950c5aa451854fa595a51cdc09147
https://www.research.manchester.ac.uk/portal/en/publications/small-molecules-restore-bestrophin-1-expression-and-function-of-both-dominant-and-recessive-bestrophinopathies-in-patientderived-retinal-pigment-epithelium(5a73418e-ddcd-42c0-977d-aa37baa91aff).html
https://www.research.manchester.ac.uk/portal/en/publications/small-molecules-restore-bestrophin-1-expression-and-function-of-both-dominant-and-recessive-bestrophinopathies-in-patientderived-retinal-pigment-epithelium(5a73418e-ddcd-42c0-977d-aa37baa91aff).html
Autor:
Christopher Campbell, Graeme C.M. Black, Omamah A. Jiman, Jane Ashworth, Sofia Douzgou, Rachel L. Taylor, Eva Lenassi, Forbes D C Manson, Tracy Fletcher, Stephanie Barton, Jamie M Ellingford, Claire Hardcastle, Simon C Ramsden, Jill Clayton Smith, Susmito Biswas
Publikováno v:
Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5
European Journal of Human Genetics
European Journal of Human Genetics
Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with one or more extra-ocular features undergoing pane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dd98c73ac071d9a5d792ad5a994775
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxK
Autor:
Michelle E. McClements, Maria I. Patrício, Carolina Uggenti, Robert E MacLaren, Shaun Roger Wood, Sumathi Sekaran, Forbes D C Manson, Cristina Martinez-Fernandez de la Camara, Alun R. Barnard
Publikováno v:
Wood, S, McClements, M E, Martinez-Fernandez de la Camara, C, Patricio, M M, Uggenti, C, Sekaran, S, Barnard, A R, Manson, F & MacLaren, R E 2019, ' A quantitative chloride channel conductance assay for efficacy testing of AAV.BEST1 ', Human Gene Therapy Methods . https://doi.org/10.1089/hgtb.2018.267
Mutations in the human BEST1 gene are responsible for a number of distinct retinal disorders known as 'bestrophinopathies', for which there are no current treatments. The protein product, bestrophin-1, is expressed in the retinal pigment epithelium (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d58ef153e902620815e3cb1dd1f3b23
https://pubmed.ncbi.nlm.nih.gov/30963787
https://pubmed.ncbi.nlm.nih.gov/30963787
Autor:
Daniel F. Schorderet, David J. Armstrong, Veronique Vitart, Chris F. Inglehearn, Graeme C.M. Black, Aine Rice, Louise F. Porter, Francis L. Munier, Forbes D C Manson, Alan F. Wright, David Simpson, Judith Lechner, Colin E. Willoughby
Publikováno v:
Human Molecular Genetics, vol. 23, no. 20, pp. 5527-35
Keratoconus, a common inherited ocular disorder resulting in progressive corneal thinning, is the leading indication for corneal transplantation in the developed world. Genome-wide association studies have identified common SNPs 100 kb upstream of ZN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c98c509963fdf9ab71db4105b287a1c
https://doi.org/10.1093/hmg/ddu253
https://doi.org/10.1093/hmg/ddu253
Autor:
Graham E. Holder, Anthony G. Robson, Robert E MacLaren, Graeme C.M. Black, Rosemary Burgess, Antony Moore, Alice E. Davidson, Forbes D C Manson, Jill E. Urquhart, Raymond T. O. Keefe
Autosomal dominant vitreoretinochoroidopathy (ADVIRC), a retinal dystrophy often associated with glaucoma and cataract, forms part of a phenotypic spectrum of 'bestrophinopathies'. It has been shown previously that ADVIRC results from BEST1 mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7897d5f12edd78e6b2b8e1fe3f183979
https://ora.ox.ac.uk/objects/uuid:baf7a51e-dac2-498d-ac27-5fe659f2aaf0
https://ora.ox.ac.uk/objects/uuid:baf7a51e-dac2-498d-ac27-5fe659f2aaf0
Autor:
Forbes D C Manson, Kathleen J. Millen, Alexander Waite, Mirja Somer, Mary O'Driscoll, Kate Chandler
Publikováno v:
American Journal of Medical Genetics Part A. :2390-2393
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32bf511889c635ea7be7e855064b8c2a
https://doi.org/10.1002/ajmg.a.33569
https://doi.org/10.1002/ajmg.a.33569
Autor:
Charles E. de Bock, Dian Donnai, Dedee F. Murrell, Ashish D. Diwan, Forbes D C Manson, Emma Howard, Julie McGaughran, Zhi Ming Fang, Emma Hilton, May Tassabehji, Raymond A. Clarke, Zhongming Zhao, Michael Malass
Publikováno v:
Human Mutation. 29:1017-1027
Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are oft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe3edcc1c21fef7acf702bbcb962d478
https://doi.org/10.1002/humu.20741
https://doi.org/10.1002/humu.20741
Autor:
Philippe Kestelyn, Bart P. Leroy, Ian D. Millar, Genevieve A. Wright, Andrew R. Webster, Jill E. Urquhart, Graeme C.M. Black, Ian M. Fearon, Peter de Nully Brown, Forbes D C Manson, Elfrida De Baere, Rosemary Burgess, Graham E. Holder, Anthony G. Robson
Publikováno v:
The American Journal of Human Genetics. 82(1):19-31
We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc7ac0ab455200eb53118fbb8c4e8fe