Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Gwyneth-Jane Farrar"'
Autor:
Daniel M. Maloney, Naomi Chadderton, Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, James J. O’Byrne, Lorraine Cassidy, David Keegan, Peter Humphries, Paul Kenna, Gwyneth Jane Farrar
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy (DOA), a progressive blinding
Externí odkaz:
https://doaj.org/article/4b299d0b315044cd94b2e4bfd9480a83
Autor:
Jordi Corominas, Laura Whelan, Gwyneth Jane Farrar, Frans P.M. Cremers, Catherina H Z Li, Paul F. Kenna, Susanne Roosing, Carel B. Hoyng, Adrian Dockery, Roly Megaw, Charlie Rowlands, Zeinab Fadaie, L. Ingeborgh van den Born, Christian Gilissen, Jamie M Ellingford, AK Lampe
Publikováno v:
Journal of Medical Genetics, 59, 438-444
Journal of Medical Genetics, 59, 5, pp. 438-444
Journal of Medical Genetics, 59, 5, pp. 438-444
BackgroundInherited retinal diseases (IRDs) can be caused by variants in >270 genes. The Bardet-Biedl syndrome 1 (BBS1) gene is one of these genes and may be associated with syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbe0c9a9179a55b8e5062f89977d11a
http://hdl.handle.net/2066/251508
http://hdl.handle.net/2066/251508
Autor:
Gundula Streubel, Michael J. Dolan, Vilma Rraklli, Ulrika Nyman, David J. O'Connell, Siobhán A. Turner, Naomi Chadderton, Johan Holmberg, Kristian Helin, Julie Skotte, Adrian P. Bracken, Klaus Hansen, Chris M. Egan, Gwyneth Jane Farrar
Publikováno v:
Developmental Cell. 26(3):223-236
SummaryThe chromatin remodeler CHD5 is expressed in neural tissue and is frequently deleted in aggressive neuroblastoma. Very little is known about the function of CHD5 in the nervous system or its mechanism of action. Here we report that depletion o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c8519ca6eedd8d6e8f8371718392aa
Autor:
Ed C. Lavelle, Ema Ozaki, Robert G. Salomon, Gwyneth Jane Farrar, Sarah L. Doyle, Marian M. Humphries, Peter Humphries, Matthew Campbell, Andres Mori, Anna Sophia Kiang, Joe G. Hollyfield, Paul F. Kenna, Luke A. J. O'Neill
Publikováno v:
Nature Medicine. 18:791-798
Age-related macular degeneration (AMD) is the leading cause of central vision loss worldwide. Drusen accumulation is the major pathological hallmark common to both dry and wet AMD. Although activation of the immune system has been implicated in disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b046e94604da7931592e5640c41b116
https://doi.org/10.1038/nm.2717
https://doi.org/10.1038/nm.2717
Autor:
Brenda Brankin, Matthew Campbell, Gwyneth-Jane Farrar, Julie A. Kelly, Peter Humphries, Laurence O'dwyer, Paul F. Kenna, Christoph W. Blau, Christian Kerskens, Amanda Tivnan, Anna-Sophia Kiang
Publikováno v:
The Journal of Gene Medicine. 10:930-947
Background The blood-brain barrier (BBB) contains tight junctions (TJs) which reduce the space between adjacent endothelial cells lining the fine capillaries of the microvasculature of the brain to form a selective and regulatable barrier. Methods Us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4baebe470275870af318baf6e8de4fac
https://doi.org/10.1002/jgm.1211
https://doi.org/10.1002/jgm.1211
Publikováno v:
Essentials in Ophthalmology ISBN: 9783662451878
The elucidation of the molecular pathogenesis of inherited ocular disorders has led to an ability to design therapies directed toward amending the primary genetic lesion or modulating secondary effects associated with the disease pathologies. Indeed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5eb73189906fa721631d4f6ab1d24789
https://doi.org/10.1007/978-3-662-45188-5_4
https://doi.org/10.1007/978-3-662-45188-5_4
Autor:
Anna-Sophia Kiang, Paul F. Kenna, B. O'Neill, Peter Humphries, Gwyneth Jane Farrar, Sophia Millington-Ward
Publikováno v:
Antisense and Nucleic Acid Drug Development. 9:537-542
Given the genetically heterogeneous nature of many dominantly inherited disorders, it will be imperative to design mutation-independent therapeutic strategies to circumvent such heterogeneity. Intragenic polymorphism represents a genomic resource tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f41b50c2ba8cd88d041841de88c3ac87
https://doi.org/10.1089/oli.1.1999.9.537
https://doi.org/10.1089/oli.1.1999.9.537
Autor:
Avril Kennan, Carmen Ayuso, Tamara D. Clark, John H. Fingert, Fiona C. Mansergh, Paul F. Kenna, Gwyneth Jane Farrar, Peter Humphries
Publikováno v:
Journal of Medical Genetics. 35:957-960
Glaucoma describes a clinically and genetically heterogeneous group of diseases that result in optic neuropathy and progressive loss of visual fields. A gene for juvenile onset primary open angle glaucoma JOAG) has recently been mapped to 1q21-31. Mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c73b5fb3f088f62b1cefae12a55b5e1
https://doi.org/10.1136/jmg.35.11.957
https://doi.org/10.1136/jmg.35.11.957
Autor:
Mark Hazel, Marian M. Humphries, Derrick E. Rancourt, Paul A. Sieving, Paul F. Kenna, Mario R. Capecchi, Gwyneth Jane Farrar, Peter Humphries, Karoly Gulya, P. Creighton, Ronald A. Bush, András Boros, Erven A, Niamh McNally, Denise Sheils
Publikováno v:
Nature Genetics. 15:216-219
Retinitis pigmentosa (RP) represents the most common mendelian degenerative retinopathy of man, involving death of rod photoreceptors, cone cell degeneration, retinal vessel attenuation and pigmentary deposits1,2. The patient experiences night blindn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f43c206d1fd9ed5cd8a74ca144c8094f
https://doi.org/10.1038/ng0297-216
https://doi.org/10.1038/ng0297-216
Autor:
Andrea Sommella, Elena Marrocco, Giulia Cesi, Massimo Giunti, Gwyneth Jane Farrar, Settimio Rossi, Carolina Iodice, Roman S. Polishchuk, Sonia de Simone, Alberto Auricchio, Arpad Palfi, Ivana Trapani, Pasqualina Colella
Publikováno v:
EMBO Molecular Medicine
Retinal gene therapy with adeno-associated viral (AAV) vectors is safe and effective in humans. However, AAV’s limited cargo capacity prevents its application to therapies of inherited retinal diseases due to mutations of genes over 5 kb, like Star
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c51efd9d586ae45bea7e76a75af45ca
https://pubmed.ncbi.nlm.nih.gov/24150896
https://pubmed.ncbi.nlm.nih.gov/24150896