Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jamie M. Margolis"'
Autor:
Colleen L. Forster, Melissa Ingram, Benedikt Schoser, Tao Zu, Brian Gibbens, Nikunj V. Somia, Aline Huguet, Noelle S. Doty, Laura P.W. Ranum, Mark Peterson, Mário Gomes-Pereira, Stephen C. Schmechel, Walter C. Low, Matthew D. Stone, Jamie M. Margolis, Maurice S. Swanson, Todd W. Markowski, Peter B. Bitterman, Zhenhong Nan, Melinda L. Moseley, Geneviève Gourdon, H. Brent Clark
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 108(1)
Trinucleotide expansions cause disease by both protein- and RNA-mediated mechanisms. Unexpectedly, we discovered that CAG expansion constructs express homopolymeric polyglutamine, polyalanine, and polyserine proteins in the absence of an ATG start co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2daa688d91b57ef824309b01d76ab4fa
https://pubmed.ncbi.nlm.nih.gov/21173221
https://pubmed.ncbi.nlm.nih.gov/21173221
Publikováno v:
Human molecular genetics. 15(11)
Myotonic dystrophy type 2 (DM2) is caused by a CCTG expansion mutation in intron 1 of the zinc finger protein 9 (ZNF9) gene. The mean expansion size in patients is larger than for DM1 or any previously reported disorder (mean 5 5000 CCTGs; range 5 75
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::212743e54b0fb66d8fa513124b74efb3
https://pubmed.ncbi.nlm.nih.gov/16624843
https://pubmed.ncbi.nlm.nih.gov/16624843
The general model that dominant diseases are caused by mutations that result in a gain or change in function of the corresponding protein was challenged by the discovery that the myotonic dystrophy type 1 mutation is a CTG expansion located in the 3'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3ddc95f74fac7f32acf03af4623d514
https://doi.org/10.1159/000092501
https://doi.org/10.1159/000092501
Autor:
Aida Abu-Baker, Tetsuo Ashizawa, Linda L. Bachinski, Albino Bacolla, Gillian P. Bates, John S. Belt, Dya Bezprozvanny, Sanjay Bidichandani, John J. Bissler, Alexis Brice, Kerri M. Carlson, CheunJu Chen, Thomas A. Cooper, Natividad Cortez-Apreza, John W. Day, Irene De Biase, Ruhee Dere, Didier Devys, Katherine A. Dick, Vincent Dion, Lisa M. Ellerby, Henry F. Epstein, Kenneth H. Fischbeck, Laurent Foiry, Rune R. Frants, Gwenn A. Garden, M´rio Gomes-Pereira, Geneviéve Gourdon, Paul J. Hagerman, Randi J Hagerman, Peter S. Harper, Vera I. Hashem, Michael R. Hayden, Micheal L. Hebert, Dominique Helmlinger, Emma Hockly, Susan E. Holmes, H.S. Hwang, Yoshio Ikeda, Kinya Ishikawa, George R. Jackson, Mariana Kekis, Beata Kosmider, Irina V. Kovtun, Ralf Krahe, Wlodzimierz J. Krzyzosiak, Albert R. La Spada, Jacquelynn E. Larson, Rachel Lau, Michael Leffak, Michelle R. Leonard, Yunfu Lin, Yuan Liu, Julien L. Marcadier, Jamie M. Margolis, Russell L. Margolis, Cynthia T. McMurray, Sergei M. Mirkin, Hidehiro Mizusawa, Darren G. Monckton, S. Erin Montgomery, Marek Napierala, David L. Nelson, Elizabeth O'Hearn, Ben A. Oostra, Harry T. Orr, George W. Padberg, Massimo Pandolfo, Gagan B. Panigrahi, Sharan Paul, Henry Paulson, Christopher E. Pearson, Olga Pletnikova, Vladimir N. Potaman, Mahmoud A. Pouladi, Rajendra Prasad, Héléne Puccio, Stefan M. Pulst, Malgorzata J. Pytlos, Laura P.W. Ranum, Lynn A. Raymond, Sita Reddy, Robert I. Richards, Christopher A. Ross, Guy Rouleau, Dobrila D. Rudnicki, Tzu-Kang Sang, Peggy E. Shelbourne, Michael J. Siciliano, Richard R. Sinden, Ram Singh, Krzysztof Sobczak, LesHe S. Son, Giovanni Stevanin, S. Strack, Maurice S. Swanson, J. Paul Taylor, Charles A. Thornton, Andrea Todd, Juan Troncoso, Ray Truant, Bjarne Udd, Karen Usdin, Silvere M. van der Maarel, Rene E.M.A. van Herpen, Caroline Vosch, Derick G. Wansink, Robert D. Wells, Ronald Wetzel, Bé Wieringa, Robert B. Wilson, Samuel H. Wilson, John H. Wilson, Marzena Wojciechowska
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd4cd0ded2f3ce9679528ecf02b5ccd4
https://doi.org/10.1016/b978-012369462-1/50000-4
https://doi.org/10.1016/b978-012369462-1/50000-4
Publikováno v:
Genetic Instabilities and Neurological Diseases (Second Edition)
This chapter discusses clinical and genetic features of myotonic dystrophy type 2 (DM2). DM2 possesses several unique genetic features: it is the only identified tetranucleotide repeat disorder; DM2 expansions are larger than any other identified rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2de973961a6a85ba39ebc5336fd16945
https://doi.org/10.1016/b978-012369462-1/50008-9
https://doi.org/10.1016/b978-012369462-1/50008-9