Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Stephen P Daiger"'
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:
Abigail T Fahim, Sara J Bowne, Lori S Sullivan, Kaylie D Webb, Jessica T Williams, Dianna K Wheaton, David G Birch, Stephen P Daiger
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e23021 (2011)
Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness. The clinical consequences of RPGR mutations are highly varied, even among individuals with the same mutation
Externí odkaz:
https://doaj.org/article/1897dc779fbe4fb8a7ad8d493abb4ff5
Autor:
Riccardo, Sangermano, Pooja, Biswas, Lori S, Sullivan, Emily M, Place, Shyamanga, Borooah, Juerg, Straubhaar, Eric A, Pierce, Stephen P, Daiger, Kinga M, Bujakowska, Radha, Ayaggari
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.
Autor:
Maéva Langouët, Christine Jolicoeur, Awais Javed, Pierre Mattar, Micah D. Gearhart, Stephen P. Daiger, Mette Bertelsen, Lisbeth Tranebjærg, Nanna D. Rendtorff, Karen Grønskov, Catherine Jespersgaard, Rui Chen, Zixi Sun, Hui Li, Najmeh Alirezaie, Jacek Majewski, Vivian J. Bardwell, Ruifang Sui, Robert K. Koenekoop, Michel Cayouette
Publikováno v:
Science Advances. 8
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCO
Autor:
Maéva, Langouët, Christine, Jolicoeur, Awais, Javed, Pierre, Mattar, Micah D, Gearhart, Stephen P, Daiger, Mette, Bertelsen, Lisbeth, Tranebjærg, Nanna D, Rendtorff, Karen, Grønskov, Catherine, Jespersgaard, Rui, Chen, Zixi, Sun, Hui, Li, Najmeh, Alirezaie, Jacek, Majewski, Vivian J, Bardwell, Ruifang, Sui, Robert K, Koenekoop, Michel, Cayouette
Publikováno v:
Science advances. 8(36)
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCO
Publikováno v:
Proc Natl Acad Sci U S A
Inherited retinal degenerations are a clinically and genetically heterogeneous group of blinding diseases characterized by progressive degeneration of the neuroretina and/or the retinal pigment epithelium. Currently, over 300 genes have been implicat
Autor:
Julia H. Wildschutte, Marta G. Castelhano, Max F. Rothschild, Maria Kaukonen, Georgios Kellaris, Joshua A. Stern, Stéphane Bézieau, Laurence Legeai-Mallet, Shrinivas P. Mane, Dominique Debray, Hannes Lohi, Ottmar Distl, Laurence M. Occelli, Kinga M. Bujakowska, Marjo K. Hytönen, Oliver P. Forman, Elizabeth A. Wilcox, Richard Malik, Tosso Leeb, Ronald H.L. Li, Elizabeth L. Cadena, William F. Swanson, Teri L. Lear, Yoshihiko Yu, Robert J. Harvey, Dominique Caldari, Erica E. Davis, Bianca Haase, Eric A. Pierce, Reuben M. Buckley, Stephen P. Daiger, L. Martin, D. Aberdein, Clare Rusbridge, Simon M. Petersen-Jones, Edward I. Ginns, Daniel C. Koboldt, Benjamin Cogné, Lokuliyanage Dona Samudita Senaratne, Michael B. Gorin, Niels C Pedersen, Margret L. Casal, Xenia Latypova, Adam R. Boyko, Isabel Hernandez, Tomoki Kosho, Sara J. Bowne, Nicholas H. Dodman, Tomas F. Bergström, Nicholas Katsanis, Rebecca R. Bellone, Guylène Le Meur, Bertrand Isidor, Daisuke Hasegawa, Christopher B. Kaelin, Mathilde Nizon, Karen A. Terio, Paulo C. Alves, Leslie A. Lyons, Christopher R Helps, Eirik Frengen, Emilie Leclerc, William J. Murphy, Beth Shapiro, Mark A. Magnuson, Lorraine Fievet, Maria Longeri, Rory J. Todhunter, Jeffrey A. Brockman, Lori S. Sullivan, Dorian J. Garrick, Jens Häggström, Jonathan E. Fogle, N. Matthew Ellinwood, Wesley C. Warren, John S. Munday, Gregory S. Barsh
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.893-904. ⟨10.1016/j.ajhg.2020.04.005⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.893-904. ⟨10.1016/j.ajhg.2020.04.005⟩
Am J Hum Genet
Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48a8e4787ee74d7e392a0a9500b3f4d
https://hal.archives-ouvertes.fr/hal-03490699
https://hal.archives-ouvertes.fr/hal-03490699
Autor:
Stephen P, Daiger, Lori S, Sullivan, Sara J, Bowne, Elizabeth D, Cadena, Dan, Koboldt, Kinga M, Bujakowska, Eric A, Pierce
Publikováno v:
Advances in experimental medicine and biology. 1185
Current application of next-generation sequencing (NGS) leads to detection of the underlying disease-causing gene and mutation or mutations in from 60% to 85% of patients with inherited retinal diseases (IRDs), depending on the methods used, disease
Autor:
Eugenia V. Gurevich, Lori S. Sullivan, Vsevolod V. Gurevich, Sara J. Bowne, Sergey A. Vishnivetskiy, Stephen P. Daiger
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose The purpose of this study was to identify the molecular defect in the disease-causing human arrestin-1 C147F mutant. Methods The binding of wild-type (WT) human arrestin-1 and several mutants with substitutions in position 147 (including C147
Publikováno v:
International Journal of Healthcare Management. 13:295-302
The fiscal pool that funds Delivery System Reform Incentive Payment (DSRIP) projects has four interlinking categories, Categories I – IV. DSRIP that was adopted in nine counties of southeast Texas ...