Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alex G. McKee"'
Autor:
Alex G. McKee, Paul F. Kenna, Marius Ader, Marian M. Humphries, Aileen Aherne, Anna-Sophia Kiang, Avril Kennan, Naomi Chadderton, Alison L. Reynolds, Lawrence C. S. Tam, Peter Humphries, Carmen Ayuso, Matthew Campbell, G. Jane Farrar, Arpad Palfi
Publikováno v:
Human Molecular Genetics. 17:2084-2100
Mutations within the inosine 5'-monophosphate dehydrogenase 1 (IMPDH1) gene cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP), an early-onset retinopathy resulting in extensive visual handicap owing to progressive death of photore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73fc9823d70a6e35a7ba53723b14989
https://doi.org/10.1093/hmg/ddn107
https://doi.org/10.1093/hmg/ddn107
Autor:
Naomi Chadderton, G. Jane Farrar, Paul F. Kenna, Alex G. McKee, Alfonso Blanco Fernández, Arpad Palfi, Peter Humphries
Publikováno v:
Human gene therapy. 23(8)
Recombinant adeno-associated virus (AAV) represents an efficient system for neuronal transduction. However, a potential drawback of AAV is its restricted packaging capacity of approximately 5 kb. To bypass this limitation, a number of dual- and tripl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::343d31d87b764499236ce9630aa57e0b
https://pubmed.ncbi.nlm.nih.gov/22545762
https://pubmed.ncbi.nlm.nih.gov/22545762
Autor:
Niamh C. O’Sullivan, Jennifer S. Loscher, Olive McCabe, Graham K. Sheridan, Menelas N. Pangalos, Alfonso Blanco Fernández, John J. O'Connor, Mary Moran, Keith J. Murphy, Arpad Palfi, Ciaran M. Regan, Laura Batti, Alex G. McKee, Naomi Chadderton, William T. O'Connor, G. Jane Farrar, Peter Humphries, Sean D. O'Shea
Publikováno v:
Journal of neurochemistry. 112(4)
Long-term memory is formed by alterations in glutamate-dependent excitatory synaptic transmission, which is in turn regulated by synaptosomal protein of 25 kDa (SNAP-25), a key component of the soluble N-ethylmaleimide-sensitive factor attachment pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6740b0570a43125b4ee369c900bab23
https://pubmed.ncbi.nlm.nih.gov/20002519
https://pubmed.ncbi.nlm.nih.gov/20002519
Publikováno v:
Ophthalmology Research ISBN: 9781588296207
A hereditary degenerative disease of the retina, retinitis pigmentosa (RP), is the leading cause of visual handicap among working populations in developed countries, with an estimated 1.5 million patients worldwide (1,2). Clinically, RP is characteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5cc929e2592a6a7c28a1d66005ed06b
https://doi.org/10.1007/978-1-59745-186-4_16
https://doi.org/10.1007/978-1-59745-186-4_16
Autor:
Torben Falck Orntoft, David Simpson, Paul Francis Kenna, Marian M. Humphries, Aileen Aherne, Alex G. McKee, G. Jane Farrar, Avril Kennan, Karin Demtröder, Arpad Palfi, Carmen Ayuso, Peter Humphries, Alan W. Stitt
Publikováno v:
Kennan, A, Aherne, A, Palfi, A, Humphries, M, McKee, A, Stitt, A, Simpson, D A, Birkenkamp-Demtröder, K, Ørntoft, T F, Ayuso, C, Kenna, P F, Farrar, G J & Humphries, P 2002, ' Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice ', Hum Mol Genet, pp. 734-728 .
Aarhus University
Aarhus University
Comparative analysis of the transcriptional profiles of approximately 6000 genes in the retinas of wild-type mice with those carrying a targeted disruption of the rhodopsin gene was undertaken by microarray analysis. This revealed a series of transcr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b08d701fba2afe5098e790798ebb81
https://pubmed.ncbi.nlm.nih.gov/11875049
https://pubmed.ncbi.nlm.nih.gov/11875049
Autor:
Alex G. McKee, Susan Slifer, Sophia Millington-Ward, Li Ding, Daniel C. Koboldt, Lawrence C. S. Tam, Ioanna Konidari, Lori S. Sullivan, George M. Weinstock, Arpad Palfi, Peter Humphries, Denis Allman, Susan H. Blanton, Marian M. Humphries, Anna S. Kiang, Robert S. Fulton, Paul F. Kenna, Matthew Campbell, Erica Sodergren, Sara J. Bowne, Stephen P. Daiger, G. Jane Farrar
Publikováno v:
European Journal of Human Genetics. 19:1109-1109
Linkage testing using Affymetrix 6.0 SNP Arrays mapped the disease locus in TCD-G, an Irish family with autosomal dominant retinitis pigmentosa (adRP), to an 8.8 Mb region on 1p31. Of 50 known genes in the region, 11 candidates, including RPE65 and P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6cd3b25dee20cb46245a84bbb3e8b9
https://doi.org/10.1038/ejhg.2011.132
https://doi.org/10.1038/ejhg.2011.132