Janghoo Lim, Tong Hao, Chad Shaw, Akash J. Patel, Gábor Szabó, Jean-françois Rual, ...
Many human inherited neurodegenerative disorders are characterized by loss of balance due to cerebellar Purkinje cell (PC) degeneration. Although the disease-causing mutations have been identified...
Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., ...
Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be...
Kei Watase, Jennifer R. Gatchel, Yaling Sun, Effat Emamian, Richard Atkinson, Ronald Richman, ...
BackgroundSpinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder characterized by progressive motor and cognitive dysfunction. Caused by an expanded polyglutamine...
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia (2005)
Hermanns, Pia, Bertuch, Alison A., Bertin, Terry K., Dawson, Brian, Schmitt, Mark E., Shaw, Chad, ...
Cartilage-hair hypoplasia (CHH), also known as metaphyseal chondrodysplasia McKusick type (OMIM no. 250250), is an autosomal recessive, multi-systemic disease characterized by disproportionate short...
Consequences of mutations in the noncoding RMRP RNA in Cartilage-Hair Hypoplasia (2005)
Hermanns, Pia, Bertuch, Alison A., Bertin, Terry K., Dawson, Brian, Schmitt, Mark E., Shaw, Chad, ...
Cartilage-Hair Hypoplasia (CHH), also known as metaphyseal chondrodysplasia McKusick type (MIM #250250), is an autosomal recessive, multi-systemic disease characterized by disproportionate short...
An orderly retreat: Dedifferentiation is a regulated process
Katoh, Mariko, Shaw, Chad, Xu, Qikai, Van Driessche, Nancy, Morio, Takahiro, Kuwayama, Hidekazu, ...
Differentiation is a highly regulated process whereby cells become specialized to perform specific functions and lose the ability to perform others. In contrast, the question of whether...
Transcriptional Transitions during Dictyostelium Spore Germination†
Xu, Qikai, Ibarra, Miroslava, Mahadeo, Dana, Shaw, Chad, Huang, Eryong, Kuspa, Adam, ...
Many protozoa form spores in response to adversity; therefore, spore germination is a key process in their life cycle. Dictyostelium discoideum sporulates in response to starvation following a...
An orderly retreat: Dedifferentiation is a regulated process
Katoh, Mariko, Shaw, Chad, Xu, Qikai, Van Driessche, Nancy, Morio, Takahiro, Kuwayama, Hidekazu, ...
Differentiation is a highly regulated process whereby cells become specialized to perform specific functions and lose the ability to perform others. In contrast, the question of whether...
Transcriptional Transitions during Dictyostelium Spore Germination†
Xu, Qikai, Ibarra, Miroslava, Mahadeo, Dana, Shaw, Chad, Huang, Eryong, Kuspa, Adam, ...
Many protozoa form spores in response to adversity; therefore, spore germination is a key process in their life cycle. Dictyostelium discoideum sporulates in response to starvation following a...
Watase, Kei, Gatchel, Jennifer R, Sun, Yaling, Emamian, Effat, Atkinson, Richard, Richman, Ronald, ...
Huda Zoghbi and colleagues show that lithium treatment initiated before or after disease onset improves multiple symptoms of neurodegeneration in a mouse model of spinocerebellar ataxia.
Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M. B., Eifert, Anna, Friedman, Ellen M., ...
The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal...
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7
Gatchel, Jennifer R., Watase, Kei, Thaller, Christina, Carson, James P., Jafar-Nejad, Paymaan, Shaw, Chad, ...
Polyglutamine diseases are inherited neurodegenerative disorders caused by expansion of CAG repeats encoding a glutamine tract in the disease-causing proteins. There are nine disorders, each having...