Zobrazeno 1 - 10
of 312
pro vyhledávání: '"Michael B Gorin"'
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Eunice Sze Yin Ng, Nermin Kady, Jane Hu, Arpita Dave, Zhichun Jiang, Jacqueline Pei, Michael B. Gorin, Anna Matynia, Roxana A. Radu
Publikováno v:
Cells, Vol 11, Iss 21, p 3462 (2022)
Recessive Stargardt disease (STGD1) is an inherited retinopathy caused by mutations in the ABCA4 gene. The ABCA4 protein is a phospholipid-retinoid flippase in the outer segments of photoreceptors and the internal membranes of retinal pigment epithel
Externí odkaz:
https://doaj.org/article/182604b4edaa4086ad8c400026a6bd81
Autor:
James T. Handa, Cathy Bowes Rickman, Andrew D. Dick, Michael B. Gorin, Joan W. Miller, Cynthia A. Toth, Marius Ueffing, Marco Zarbin, Lindsay A. Farrer
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
No effective therapies exist for dry age-related macular degeneration. In this perspective, the authors propose that research should emphasize system biology approaches that integrate various ‘omics’ data into mathematical models to establish pat
Externí odkaz:
https://doaj.org/article/3214b0dbb9844fa984ecd1315c89c90d
Publikováno v:
Ophthalmology Science, Vol 1, Iss 1, Pp 100018- (2021)
Externí odkaz:
https://doaj.org/article/62790f9cbf3d42c0b54dee0202b7342b
Autor:
Leila Chew, Vahid Mohammadzadeh, Massood Mohammadi, Veronica Toriz, Nancy Rosa, Michael B. Gorin, Navid Amini, Kouros Nouri-Mahdavi
Publikováno v:
Ophthalmology Glaucoma. 6:68-77
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9fe0b02c8ae331be97602e1cc2c2398
https://doi.org/10.1016/j.ogla.2022.06.006
https://doi.org/10.1016/j.ogla.2022.06.006
Autor:
Joanna H. Tu, Katharina G. Foote, Brandon J. Lujan, Kavitha Ratnam, Jia Qin, Michael B. Gorin, Emmett T. Cunningham, Jr., William S. Tuten, Jacque L. Duncan, Austin Roorda
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 14-19 (2017)
Purpose: Confocal adaptive optics scanning laser ophthalmoscope (AOSLO) images provide a sensitive measure of cone structure. However, the relationship between structural findings of diminished cone reflectivity and visual function is unclear. We use
Externí odkaz:
https://doaj.org/article/f2921d0b92154dfa94634e449647fbc4
Autor:
Jeeyun Ahn, Michael B. Gorin
Publikováno v:
Current Sleep Medicine Reports. 7:65-79
Purpose of Review Obstructive sleep apnea (OSA) patients are at significantly increased risks for cardiovascular and cerebrovascular morbidities. Recently, there has been heightened interest in the association of OSA with numerous ocular diseases and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e4a85fbb8ceeca5fe2c3e5018dd7115
https://doi.org/10.1007/s40675-021-00215-0
https://doi.org/10.1007/s40675-021-00215-0
Autor:
Anna Matynia, Eileen Nguyen, Xiao-Ping Sun, Frank Blixt, Sachin Parikh, Jason Kessler, Luis Perez de Sevilla Muller, Samer Habib, Paul Kim, Zoey Zhe Wang, Allen Rodriguez, Andrew Charles, Steven Nusinowitz, Lars Edvinsson, Steven Barnes, Nicholas Brecha, Michael B Gorin
Publikováno v:
Frontiers in Neural Circuits, Vol 10 (2016)
The ability of light to cause pain is paradoxical. The retina detects light but is devoid of nociceptors while the trigeminal sensory ganglia (TG) contain nociceptors but not photoreceptors. Melanopsin-expressing intrinsically photosensitive retinal
Externí odkaz:
https://doaj.org/article/db6756685cc14d90b89bb7977c0c2623
Autor:
Samuel P Strom, Michael J Clark, Ariadna Martinez, Sarah Garcia, Amira A Abelazeem, Anna Matynia, Sachin Parikh, Lori S Sullivan, Sara J Bowne, Stephen P Daiger, Michael B Gorin
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150944 (2016)
Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene dis
Externí odkaz:
https://doaj.org/article/ae4924a6ffdb47e18adb131bef2c596a
Publikováno v:
Ophthalmic Genetics. 41:386-389
Recent advances in genetic sequencing techniques have improved the overall diagnostic yield for finding genetic causes for inherited retinal dystrophies (IRD). Rod-cone dystrophy is the most common...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3385745133b675891127555f12aa50e
https://doi.org/10.1080/13816810.2020.1783691
https://doi.org/10.1080/13816810.2020.1783691