Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Anna Matynia"'
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
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Externí odkaz:
https://doaj.org/article/320e54b594954aba8810f43280c37f0e
Autor:
Huei-Bin Wang, David Zhou, Shu Hon Christopher Luk, Hye In Cha, Amanda Mac, Rim Chae, Anna Matynia, Ben Harrison, Sina Afshari, Gene D. Block, Cristina A. Ghiani, Christopher S. Colwell
Publikováno v:
Neurobiology of Disease, Vol 176, Iss , Pp 105944- (2023)
Many patients with autism spectrum disorders (ASD) show disturbances in their sleep/wake cycles, and they may be particularly vulnerable to the impact of circadian disruptors. We have previously shown that a 2-weeks exposure to dim light at night (DL
Externí odkaz:
https://doaj.org/article/ed54fde324d04658bb9ca4008f10a276
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:
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
Autor:
Anna Matynia
Publikováno v:
Journal of Experimental Neuroscience, Vol 7 (2013)
Mammalian vision consists of the classic image-forming pathway involving rod and cone photoreceptors interacting through a neural network within the retina before sending signals to the brain, and a non image-forming pathway that uses a photosensitiv
Externí odkaz:
https://doaj.org/article/e8cd95d356c24dd8b80ce4938f9fe20f
Publikováno v:
PLoS ONE, Vol 5, Iss 3, p e9857 (2010)
Assessment of molecular defects that underlie cognitive deficits observed in mendelian disorders provides a unique opportunity to identify key regulators of human cognition. Congenital Myotonic Dystrophy 1 (cDM1), a multi-system disorder is character
Externí odkaz:
https://doaj.org/article/d229a64b9eb848a2be2bdee8e7d3fd22
Autor:
Anna Matynia, Stephan G Anagnostaras, Brian J Wiltgen, Maress Lacuesta, Michael S Fanselow, Alcino J Silva
Publikováno v:
PLoS ONE, Vol 3, Iss 5, p e2121 (2008)
Previous studies have revealed that the initial stages of memory formation require several genes involved in synaptic, transcriptional and translational mechanisms. In contrast, very little is known about the molecular and cellular mechanisms underly
Externí odkaz:
https://doaj.org/article/df9b05bbc5864773a31d5f03cb44cc81
Autor:
Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark E Pennesi, Paul Yang, Molly Marra, Robert K Koenekoop, Irma Lopez, Anna Matynia, Michael Gorin, Ruifang Sui, Fengxia Yao, Kerry Goetz, Fernanda Belga Ottoni Porto, Rui Chen
Publikováno v:
bioRxiv
Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In this study, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2a510ea44ca1aa3db229beb79e4483
https://doi.org/10.1101/2023.01.02.522522
https://doi.org/10.1101/2023.01.02.522522