Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Niamh McNally"'
Autor:
Paul A. Sieving, Paul F. Kenna, Niamh McNally, Noheed W. Khan, G. Jane Farrar, Marian M. Humphries, Ron A. Bush, Audrey Hobson, Peter Humphries
Publikováno v:
Human Molecular Genetics. 8:1309-1312
Mice carrying a targeted disruption of the rhodopsin gene develop a severe degenerative retinopathy, failing to elaborate rod photoreceptor outer segments (ROS), having no recordable rod electroretinogram (ERG) and losing all of their rod cells over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd34bcf90ecd05d5140592fafb7f437
https://doi.org/10.1093/hmg/8.7.1309
https://doi.org/10.1093/hmg/8.7.1309
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
Publikováno v:
Applied Biochemistry and Biotechnology. 62:29-36
The authors describe a microplate-based high-throughput procedure for rapid assay of the enzyme activities of nitrate reductase and nitrite reductase, using extremely small volumes of reagents. The new procedure offers the advantages of rapidity, sma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d522683aad55e16db961c50f77d9cb
https://doi.org/10.1007/bf02787981
https://doi.org/10.1007/bf02787981
Publikováno v:
Retinal Degenerative Diseases ISBN: 9780387284644
Mutations within the gene encoding inosine monophosphate dehydrogenase 1 (IMPDH1), the rate-limiting enzyme of the de novo pathway of guanine nucleotide biosynthesis, have been shown to cause the RP10 form of autosomal dominant retinitis pigmentosa (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3b950a0d03142b9c3e2355b704fcd89
https://doi.org/10.1007/0-387-32442-9_13
https://doi.org/10.1007/0-387-32442-9_13
Autor:
Peter Humphries, Marian M. Humphries, Thérèse Cronin, Alberto Auricchio, Arpad Palfi, G. Jane Farrar, Niamh McNally, Thérèse M Tuohy, Naomi Chadderton, Amanda Tivnan, Sophia Millington-Ward, Markus Hildinger, Marius Ader, Paul F. Kenna, Mary O'Reilly, Anna-Sophia Kiang
Mutational heterogeneity represents a significant barrier to development of therapies for many dominantly inherited diseases. For example, >100 mutations in the rhodopsin gene (RHO) have been identified in patients with retinitis pigmentosa (RP). The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::102556a2056f8ee6b00afabd32f6b4a8
https://europepmc.org/articles/PMC1950918/
https://europepmc.org/articles/PMC1950918/
Autor:
Aileen, Aherne, Avril, Kennan, Paul F, Kenna, Niamh, McNally, G Jane, Farrar, Pete, Humphries
Publikováno v:
Advances in experimental medicine and biology. 572
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::74746c797108cb774442917b067600a8
https://pubmed.ncbi.nlm.nih.gov/17249559
https://pubmed.ncbi.nlm.nih.gov/17249559
Autor:
Marius Ader, G. Jane Farrar, Naomi Chadderton, Marian M. Humphries, Mary O'Reilly, Anna-Sophia Kiang, Peter Humphries, Arpad Palfi, Paul F. Kenna, Sophia Millington-Ward, Niamh McNally, Gearoid Tuohy
Publikováno v:
Molecular Therapy. 13
Top of pageAbstract Retintis pigmentosa (RP) is a term used to describe a group of inherited retinopathies primarily involving photoreceptor cell loss. The clinical and genetic heterogeneity inherent in RP has been highlighted with over 35 disease ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d9389adbac985d16f2b1aa890e8b5c
Autor:
Carmen Ayuso, David Lloyd, Avril Kennan, G. Jane Farrar, Anna-Sophia Kiang, Paul C. Engel, Jing Jin Gu, Ian L. Alberts, Peter Humphries, Marian M. Humphries, Paul F. Kenna, Beverly S. Mitchell, Niamh McNally, Aileen Aherne
Publikováno v:
Human molecular genetics. 13(6)
Retinitis pigmentosa (RP), the hereditary degenerative disease of the photoreceptor neurons of the retina, probably represents the most prevalent cause of registered blindness amongst those of working age in developed countries. Mutations within the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8787e391229d7378b67b6714720ddf
https://pubmed.ncbi.nlm.nih.gov/14981049
https://pubmed.ncbi.nlm.nih.gov/14981049
Autor:
Mary O'Reilly, Peter Humphries, Avril Kennan, Lawrence C. S. Tam, Gerry Clark, Marius Ader, Niamh McNally, Sophia Millington-Ward, G. Jane Farrar, Paul F. Kenna, Aileen Aherne, Anna-Sophia Kiang, Arpad Palfi
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy. 12(3)
The intragenic heterogeneity encountered in many dominant disease-causing genes represents a significant challenge with respect to development of economically viable therapeutics. For example, 25% of autosomal dominant retinitis pigmentosa is caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008a807a7bba5fbc18f9e1dae0ea4da6
https://pubmed.ncbi.nlm.nih.gov/15967729
https://pubmed.ncbi.nlm.nih.gov/15967729
Autor:
Maryanne Donovan, Paul F. Kenna, Shigeki Machida, Thomas G. Cotter, Audrey Hobson, Sophie Kiang, Peter Humphries, Niamh McNally, Paul A. Sieving, Ronald A. Bush, Marian M. Humphries, Jane Farrar
Publikováno v:
Visual neuroscience. 18(3)
To explore the possible influence of defined genetic backgrounds on photoreceptor viability and function in mice carrying a targeted disruption of the rhodopsin gene, the severities of retinopathies in Rho-/- mice on C57BL/6J and 129Sv congenic backg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e220790697ca82091dde52c0dbbac8f
https://pubmed.ncbi.nlm.nih.gov/11497420
https://pubmed.ncbi.nlm.nih.gov/11497420