Zobrazeno 1 - 10
of 42
pro vyhledávání: '"T. M. Redmond"'
Autor:
Saima Riazuddin, Zubair M. Ahmed, Robert B. Hufnagel, Todd Duncan, Sehar Riaz, T M Redmond, Arnaud P. J. Giese, Andrew J. Griffith, Carmen C. Brewer, Saumil Sethna, Thomas B. Friedman, Wadih M. Zein, Julie M. Schultz
Usher syndrome type I (USH1) is characterized by congenital deafness, vestibular areflexia, and progressive retinal degeneration with age. The protein-truncating p.Arg245* founder variant of PCDH15 has an ~2% carrier frequency among Ashkenazi Jews, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cad16a601dca337a4948cf4e28cba329
https://doi.org/10.1101/2021.06.08.447565
https://doi.org/10.1101/2021.06.08.447565
Publikováno v:
Biophysical Journal. 118:242a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d3cc2a5cb66d22782289eab4a542b60
https://doi.org/10.1016/j.bpj.2019.11.1422
https://doi.org/10.1016/j.bpj.2019.11.1422
Autor:
F. Simonelli, A. M. Maguire, F. Testa, E. A. Pierce, F. Mingozzi, J. L. Bennicelli, S. Rossi, K. Marshall, S. Banfi, SURACE, Enrico Maria, J. Sun, T. M. Redmond, X. Zhu, K. S. Scindler, G. S. Ying, C. Ziviello, C. Acerra, J. F. Wright, J. W. McDonnell, K. A. High, J. Bennett, AURICCHIO, ALBERTO
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal recessive blinding disease. Three independent studies have provided evidence that the subr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::88cba141ff7488aedbdf7eee5d1fa569
http://hdl.handle.net/11588/372067
http://hdl.handle.net/11588/372067
Publikováno v:
Nature Genetics. 25:63-66
Light-induced apoptosis of photoreceptors represents an animal model for retinal degeneration. Major human diseases that affect vision, such as age-related macular degeneration (AMD) and some forms of retinitis pigmentosa (RP), may be promoted by lig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cda35a60c926aa2c14a75bfd69721571
https://doi.org/10.1038/75614
https://doi.org/10.1038/75614
Autor:
T M, Redmond
Publikováno v:
Methods in molecular medicine. 47
The ability to culture pluripotent cell lines, introduce into them targeted gene mutations, and then use these mutant cell lines to generate chimeric animals (1-4), has had a major impact on many fields; not least on ophthalmology and vision research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b3b832e245ac2d4669cfca3c6d821207
https://pubmed.ncbi.nlm.nih.gov/21394587
https://pubmed.ncbi.nlm.nih.gov/21394587
Publikováno v:
Current Eye Research. 9:95-98
Interphotoreceptor retinoid-binding protein (IRBP) is a glycoprotein of 1264 residues (bovine) which localizes specifically in the retina and pineal gland and induces inflammatory changes in these organs (EAU and EAP, respectively) in immunized anima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ecd805626220de686890e278b5764c6
https://doi.org/10.3109/02713689009000059
https://doi.org/10.3109/02713689009000059
Autor:
Eberhart Zrenner, T M Redmond, Christian P. Hamel, Amalric P, Shengfa Liu, Emily L. Harris, Jean-Michel Griffoin, C. Bareil, Françoise Marlhens, C. Eliaou, Mireille Claustres, B. Arnaud
Publikováno v:
Nature Genetics. 17:139-141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0328c1d35ff9a3128355af7d6f2703e2
https://doi.org/10.1038/ng1097-139
https://doi.org/10.1038/ng1097-139
Autor:
Kristina Narfström, M.M. Ford, Martin L. Katz, Elizabeth Rakoczy, Ragnheidur Bragadottir, T. M. Redmond
Publikováno v:
The Journal of heredity. 94(1)
Defects in the RPE65 gene, which is selectively expressed in the retinal pigment epithelium (RPE), result in blindness and gradual photoreceptor cell degeneration. Experiments were conducted to assess the efficacy of gene replacement therapy in resto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a68fe7ea5412f54fda0d64e798f00b20
https://pubmed.ncbi.nlm.nih.gov/12692160
https://pubmed.ncbi.nlm.nih.gov/12692160
Publikováno v:
Molecular vision. 7
To determine the genomic organization of the mouse gene for the retinal pigment epithelium (RPE) specific protein RPE65.A genomic clone containing the entire Rpe65 gene was isolated from a mouse genomic P1 library. Fragments of this clone were subclo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::46108f71550cecffea4c0caeb81a9958
https://pubmed.ncbi.nlm.nih.gov/11740468
https://pubmed.ncbi.nlm.nih.gov/11740468
Autor:
M L, Katz, T M, Redmond
Publikováno v:
Investigative ophthalmologyvisual science. 42(12)
In all mammalian species examined to date the retinal pigment epithelium (RPE) has been found to accumulate autofluorescent lysosomal storage bodies (lipofuscin) during senescence. Substantial evidence indicates that retinoids in the RPE-retina compl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a34994a9a36ae6771523ddf9d19aa95
https://pubmed.ncbi.nlm.nih.gov/11687551
https://pubmed.ncbi.nlm.nih.gov/11687551