Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Alexis Boleda"'
Autor:
Ke Jiang, Anupam Kumar Mondal, Yogita K Adlakha, Jessica Gumerson, Angel Aponte, Linn Gieser, Jung-Woong Kim, Alexis Boleda, Matthew J Brooks, Jacob Nellissery, Donald A Fox, Robert Balaban, Raul Covian, Anand Swaroop
Publikováno v:
Hum Mol Genet
Retinal diseases exhibit extensive genetic heterogeneity and complex etiology with varying onset and severity. Mutations in over 200 genes can lead to photoreceptor dysfunction and/or cell death in retinal neurodegeneration. To deduce molecular pathw
Autor:
Matthew Brooks, Jessica D. Gumerson, Alexis Boleda, Anupam Kumar Mondal, Raul Covian, Linn Gieser, Anand Swaroop, Ke Jiang, Donald A. Fox, Robert S. Balaban, Yogita K. Adlakha, Jacob Nellissery, Jung-Woong Kim, Angel Aponte
Neurodegenerative diseases exhibit extensive genetic heterogeneity and complex etiology with varying onset and severity. To deduce the mechanism leading to retinal degeneration, we adopted a temporal multi-omics approach and examined molecular and ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74ab179419b48f7ec7f49d6bbf4b3c57
https://doi.org/10.1101/2021.10.10.463827
https://doi.org/10.1101/2021.10.10.463827
Publikováno v:
Systematic Botany. 43:439-458
The genus Amaranthus (pigweeds) is a group of ∼74 monoecious or dioecious annual species native to every continent but Antarctica, frequently associated with natural and human disturbance, with several economically important domesticated and weedy
Autor:
Itay Chowers, Stacy M Meuer, R. Theodore Smith, Bamini Gopinath, Brendan J Vote, Thierry Léveillard, David A Mackey, Dwight Stambolian, Jamie E Craig, José-Alain Sahel, David J Hunter, Michael L Klein, Jane Romm, Robyn H Guymer, Mingyao Li, J. L. Haines, Emily L. Moore, J Allie McGrath, Chloe M. Stanton, Danni Lin, Jessica N Cooke Bailey, Anton Orlin, Anita Agarwal, Frank G Holz, Debra A Schaumberg, Valerie Kuan, Christine A. Curcio, Ken Flagg, Sudha K Iyengar, Sebanti Sengupta, Bal Dhillon, Joanna E. Merriam, Janette Hall, Bernhard H F Weber, Caroline Brandl, Donald Zack, Eric Souied, Yara T. E. Lechanteur, Christina A Rennie, Mathias Gorski, Murray H Brilliant, Denise J. Morgan, Barbara Truitt, Daniel E Weeks, Thomas Langmann, Aroon D. Hingorani, Gerald Liew, Andrea J Richardson, Neal S Peachey, John Blangero, Alasdair Warwick, Humma Shahid, Eiko K de Jong, Kari E Branham, S. V. Goverdhan, Paul Mitchell, Angela J Cree, Margaux A. Morrison, Rebecca J Sardell, Ian J Constable, Michael A. Hauser, Zhenglin Yang, Reneé Laux, G. Rudolph, David Cho, Jie Jin Wang, Albert Caramoy, Jaclyn L Kovach, Alexander Brucker, Frédéric Blond, Hongrong Luo, Michael B Gorin, Robert P Igo, Caroline C W Klaver, Lebriz Ersoy, Timothy Isaacs, Adnan Tufail, Gabriëlle H.S. Buitendijk, Nicholas Katsanis, Stephen Burgess, Carel B Hoyng, Reecha Sofat, Ivana K Kim, Mohammad Othman, Ian L McAllister, Giuliana Silvestri, Helena Hai Liang, Margaret DeAngelis, Matthew P Johnson, Ava G Tan, Felix Grassmann, Lindsay A Farrer, Alex W Hewitt, Hong Ouyang, Cindy Wen, Henry Ferreyra, Milam A Brantley, Melinda Cain, Caroline Hayward, Kristine E. Lee, Linn Gieser, Isabelle Audo, Evangelia E Tsironi, Nicole T.M. Saksens, Hendrik P N Scholl, Stephen G Schwartz, Matthias Olden, Saddek Mohand-Said, Scott J Hebbring, Joshua D Hoffman, Shira Hagbi-Levi, Anthony T Moore, Mustapha Benchaboune, Lars G Fritsche, Margaret A Pericak-Vance, Iris M Heid, Kyu Hyung Park, Jennifer L Bragg-Gresham, Hélène Blanché, Alexis Boleda, Rando Allikmets, John R Heckenlively, Kathryn P Burdon, Elisa Bala, Rinki Ratnapriya, Kimberly F Doheny, Xiaowei Zhan, Sascha Fauser, Claudia N von Strachwitz, Ronald Klein, Johanna R. Foerster, Wilmar Igl, Andrew J Lotery, Klaus Stark, Matthew Brooks, Jane C Khan, Emily Y Chew, Paul N Baird, Cornelia M Van Duijn, Chelsea E. Myers, Anneke I den Hollander, Monique D Courtenay, Zhiguang Su, Yingda Jiang, William K Scott, Tammy M Martin, Armin Wolf, Jeeyun Ahn, John C. Merriam, Eric A Postel, Guanping Mao, Emmanuelle Souzeau, Barbara E K Klein, Terrie Kitchner, Stewart Lake, Anand Swaroop, Valentina Cipriani, Tina Schick, Stephanie A. Hagstrom, Alan M. Kwong, Daniel Chen, Gonçalo R. Abecasis, Matthew Schu, Michelle Grunin, John R.W. Yates, Peter Campochiaro, Kang Zhang, Jean-François Deleuze
Publikováno v:
JAMA Ophthalmology. 139:1299
Importance Advanced age-related macular degeneration (AMD) is a leading cause of blindness in Western countries. Causal, modifiable risk factors need to be identified to develop preventive measures for advanced AMD. Objective To assess whether smokin
Autor:
Mousumi Mutsuddi, Alexis Boleda, Liliana Mizrahi-Meissonnier, Lina Zelinger, Devorah Marks-Ohana, Rinki Ratnapriya, Dror Sharon, Eyal Banin, Adva Kimchi, Csilla H. Lazar, Anand Swaroop
Publikováno v:
Investigative Ophthalmology & Visual Science. 56:420-430
PURPOSE The Israeli population has a unique genetic make-up, with a high prevalence of consanguineous marriages and autosomal recessive diseases. In rod-dominated phenotypes, disease-causing genes and mutations that differ from those identified in ot
Autor:
Hyun-Jin Yang, Gökhan Karakülah, Norimoto Gotoh, Dustin Thad Whitaker, Matthew Brooks, Jennifer J. Barb, Alexis Boleda, Linn Gieser, Lina Zelinger, Jung-Woong Kim, Anand Swaroop, Rafael Villasmil, Ashley Walton, Peter J. Munson, Felipe O. Giuste, Koray Dogan Kaya, Vijender Chaitankar, Tiziana Cogliati
SummaryGene regulatory networks (GRNs) guiding differentiation of cell types and cell assemblies in the nervous system are poorly understood because of inherent complexities and interdependence of signaling pathways. Here, we report transcriptome dyn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1432d0e30bfbb641605c357ca62d2964
https://europepmc.org/articles/PMC5131731/
https://europepmc.org/articles/PMC5131731/
Autor:
Samuel G. Jacobson, Alexis Boleda, Abraham Zlotogorski, Tzipora C. Falik-Zaccai, Jacob Pe'er, Csilla H. Lazar, Itay Chowers, Liliana Mizrahi-Meissonnier, Tamar Ben-Yosef, Linn Gieser, Anand Swaroop, Samer Khateb, Dror Sharon, Avigail Beryozkin, Michal Sagi, Elia Shevah, Eyal Banin, Yitzhak Hemo, Rinki Ratnapriya, Eduard Averbuch, Anat Blumenfeld, Ola Alimi-Kasem, Adva Kimchi
Publikováno v:
Scientific Reports
Whole exome sequencing (WES) is a powerful technique for identifying sequence changes in the human genome. The goal of this study was to delineate the genetic defects in patients with inherited retinal diseases (IRDs) using WES. WES was performed on
Autor:
John R. Heckenlively, Stuart Cantsilieris, Rinki Ratnapriya, Emily Y. Chew, Yvette P. Conley, Albert Hofman, Fred G. Pluthero, Lindsay A. Farrer, Gonçalo R. Abecasis, Jonathan L. Haines, Daniel C. Koboldt, Claudia N von Strachwitz, Richard K. Wilson, Mindy M. Zhang, Andrea J. Richardson, Yuri V. Sergeev, Goo Jun, Elaine R. Mardis, Felix Grassmann, Paul N. Baird, Lana M. Olson, Mohammad Othman, Catrina Fronick, Xiaowei Zhan, Hyun Min Kang, Matthew P. Johnson, Youna Hu, Matthew Brooks, Humma Shahid, Michael B. Gorin, Bernhard H. F. Weber, Michael L. Klein, Lucinda Fulton, Chaolong Wang, Alexis Boleda, David E. Larson, Valentina Cipriani, Dwight Stambolian, Christoph Licht, Hongrong Luo, Anthony T. Moore, Anand Swaroop, Ivana K. Kim, John R.W. Yates, Robert S. Fulton, Kang Zhang, Yingda Jiang, Denise J. Morgan, Margaret M. DeAngelis, Hong Ouyang, Kari Branham, Dajiang J. Liu, Daniel E. Weeks, Caroline C W Klaver, Gabriëlle H.S. Buitendijk, Cornelia M. van Duijn, Jennifer L. Bragg-Gresham, Margaret A. Pericak-Vance, Robyn H. Guymer, John Blangero
Publikováno v:
Nature Genetics, 45(11), 1375-+. Nature Publishing Group
Nature genetics
Nature genetics
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (5