Zobrazeno 1 - 10
of 305
pro vyhledávání: '"Eric D Green"'
Autor:
William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess
Publikováno v:
PLoS Genetics, Vol 7, Iss 12, p e1002399 (2011)
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition to GARS, mutations in three other tRNA synthetase genes cause similar neur
Externí odkaz:
https://doaj.org/article/3a30937c11844b639965d96dddbb760a
Autor:
Anthony Antonellis, Megan Y Dennis, Grzegorz Burzynski, Jimmy Huynh, Valerie Maduro, Chani J Hodonsky, Mehrdad Khajavi, Kinga Szigeti, Sandeep Mukkamala, Seneca L Bessling, William J Pavan, Andrew S McCallion, James R Lupski, Eric D Green, NISC Comparative Sequencing Program
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e14346 (2010)
Myelin protein zero (MPZ) is a critical structural component of myelin in the peripheral nervous system. The MPZ gene is regulated, in part, by the transcription factors SOX10 and EGR2. Mutations in MPZ, SOX10, and EGR2 have been implicated in demyel
Externí odkaz:
https://doaj.org/article/0911ef5b476045b4ab4871b2f20a088a
Autor:
Aida M Andrés, Megan Y Dennis, Warren W Kretzschmar, Jennifer L Cannons, Shih-Queen Lee-Lin, Belen Hurle, NISC Comparative Sequencing Program, Pamela L Schwartzberg, Scott H Williamson, Carlos D Bustamante, Rasmus Nielsen, Andrew G Clark, Eric D Green
Publikováno v:
PLoS Genetics, Vol 6, Iss 10, p e1001157 (2010)
A remarkable characteristic of the human major histocompatibility complex (MHC) is its extreme genetic diversity, which is maintained by balancing selection. In fact, the MHC complex remains one of the best-known examples of natural selection in huma
Externí odkaz:
https://doaj.org/article/dcc509bf91b64ef3b174824a0c207b08
Autor:
Megan Y Dennis, Silvia Paracchini, Thomas S Scerri, Ludmila Prokunina-Olsson, Julian C Knight, Richard Wade-Martins, Penny Coggill, Stephan Beck, Eric D Green, Anthony P Monaco
Publikováno v:
PLoS Genetics, Vol 5, Iss 3, p e1000436 (2009)
Numerous genetic association studies have implicated the KIAA0319 gene on human chromosome 6p22 in dyslexia susceptibility. The causative variant(s) remains unknown but may modulate gene expression, given that (1) a dyslexia-associated haplotype has
Externí odkaz:
https://doaj.org/article/d79197052bf24d4d834af42e43ca394f
Autor:
Anthony Antonellis, Jimmy L Huynh, Shih-Queen Lee-Lin, Ryan M Vinton, Gabriel Renaud, Stacie K Loftus, Gene Elliot, Tyra G Wolfsberg, Eric D Green, Andrew S McCallion, William J Pavan
Publikováno v:
PLoS Genetics, Vol 4, Iss 9, p e1000174 (2008)
Sox10 is a dynamically regulated transcription factor gene that is essential for the development of neural crest-derived and oligodendroglial populations. Developmental genes often require multiple regulatory sequences that integrate discrete and ove
Externí odkaz:
https://doaj.org/article/47a0fc0b673e482b84741a931adae7a6
Autor:
Shurjo K. Sen, Eric D. Green, Carolyn M. Hutter, Mark Craven, Trey Ideker, Valentina Di Francesco
Publikováno v:
Cell Genomics, Vol 4, Iss 1, Pp 100466- (2024)
Summary: The data-intensive fields of genomics and machine learning (ML) are in an early stage of convergence. Genomics researchers increasingly seek to harness the power of ML methods to extract knowledge from their data; conversely, ML scientists r
Externí odkaz:
https://doaj.org/article/e23db25379e6486097424a6541d7df94
Autor:
Eric D. Green, Kevin Davies
Publikováno v:
GEN Biotechnology. 2:87-91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ece21cb5883fc4f9716ab454df651696
https://doi.org/10.1089/genbio.2023.29093.edg
https://doi.org/10.1089/genbio.2023.29093.edg
Autor:
Teri A, Manolio, Jahnavi, Narula, Carol J, Bult, Rex L, Chisholm, Patricia A, Deverka, Geoffrey S, Ginsburg, Madison, Goldrich, Eric D, Green, Gail P, Jarvik, George A, Mensah, Erin M, Ramos, Mary V, Relling, Dan M, Roden, Robb, Rowley, Marc S, Williams
Publikováno v:
Am J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed48ba28399582b7def635585299a0b
https://doi.org/10.1016/j.ajhg.2022.11.003
https://doi.org/10.1016/j.ajhg.2022.11.003
Autor:
Rex L. Chisholm, Erin M. Ramos, Robb Rowley, Carol J. Bult, Madison Goldrich, Dan M. Roden, Gail P. Jarvik, Teri A. Manolio, Eric D. Green, Mary V. Relling, Marc S. Williams, Geoffrey S. Ginsburg, George A. Mensah, Patricia A. Deverka
Publikováno v:
Am J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337b143c324e2a13465b52285c239772
https://doi.org/10.1016/j.ajhg.2021.11.006
https://doi.org/10.1016/j.ajhg.2021.11.006
Autor:
Vence L. Bonham, Eric D. Green
Publikováno v:
Am J Hum Genet
The National Human Genome Research Institute (NHGRI) recently published a new strategic vision for the future of human genomics, the product of an extensive, multi-year engagement with numerous research, medical, educational, and public communities.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6cdd7016ddc50957f9d6836659b76a9
https://doi.org/10.1016/j.ajhg.2020.12.013
https://doi.org/10.1016/j.ajhg.2020.12.013