RORα-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice

Autor: Eric N. Burright, H. Brent Clark, Nathan D. Jorgensen, A. S. Lysholm, Heliane G. Serra, Tao Zu, Lisa A. Duvick, Kerri M. Carlson, J. Michael Andresen, Sam Stevens, Huda Y. Zoghbi, Harry T. Orr

Publikováno v: Cell. 127(4):697-708

Spinocerebellar ataxia type 1 (SCA1) is one of nine inherited, typically adult onset, polyglutamine neurodegenerative diseases. To examine whether development impacts SCA1, we used a conditional transgenic mouse model of SCA1 to delay the postnatal e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d656297f8b9d13aaafc2f8a1648ec541

Emerging pathogenic pathways in the spinocerebellar ataxias

Autor: Harry T. Orr, Kerri M. Carlson, J. Michael Andresen

Publikováno v: Current opinion in geneticsdevelopment. 19(3)

The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, twenty-eight autosomal-dominant SCAs have been described and seventeen causative genes identified. These genes play a role in a broad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e346c601ab0f7350e0dd86cde7a38062
https://pubmed.ncbi.nlm.nih.gov/19345087

Precocious osteoarthritis in a family with recurrent COL2A1 mutation

Autor: Kerri M, Carlson, Karen M, Yamaga, Kent A, Reinker, Yujen E, Hsia, Clyde, Carpenter, Lucienne M, Abe, Andrea K, Perry, Donald A, Person, Douglas A, Marchuk, Ellen M, Raney

Publikováno v: The Journal of rheumatology. 33(6)

To examine the genotypic and phenotypic characteristics of a Micronesian kindred with autosomal dominant precocious osteoarthritis (OA).We reviewed records and radiographs of 3 index patients and their parents, administered questionnaires to 16 addit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::87a1807560c33f670e8f3ec5e771eb68
https://pubmed.ncbi.nlm.nih.gov/16755660

Contributors

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

Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy

Autor: Miwako Suzuki, Kerri M. Carlson, Howard A. Rockman, Douglas A. Marchuk

Publikováno v: Circulation. 105(15)

Background — Understanding the role for genetic factors in human heart failure is difficult because environmental factors cannot be standardized and genetic variation is great. One approach to identify genes that modify disease outcome is to use mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19e1c5da8d8a6f69fcd5a30e04e583b
https://pubmed.ncbi.nlm.nih.gov/11956126