Not exact matches
Validating this original concept, we previously demonstrated that PGD - derived hES cells and their derivatives, which express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), offer pertinent disease - cell models, applicable for a wide systemic mechanistic analysis ranging from
functional studies at the cellular level to a large -
scale drug screening.
The perspectives are to upgrade the
scale of the
functional genomic screen to a genome wide
study to get an highlight of all of the biological networks relevant to be targeted for DM1.
The ICS is a large -
scale facility open to the community that ensures the generation of mouse models à la carte, the validation of genetic models, the expansion and preservation and distribution of models with the housing department, and offers in its phenotyping department a series of standardized
functional analysis of mouse models that can be performed in a comprehensive pipeline or on demand, as well as for more specialized
studies, that cover the major functions and key physiological systems.
Ageing research and more generally the
study of the
functional basis of human diseases profit enormously from the large -
scale approaches and resources in mouse
functional genomics: systematic targeted mutation of the mouse genome, systemic phenotyping in mouse clinics, and the archiving and distribution of the mouse resources in public repositories.
The DOMINO group's futility
study enrolled 114 patients with mild to moderate HD, measured using the Total
Functional Capacity (TFC), a widely used
scale of the effect of HD symptoms on a person's ability to function in daily life.
Practical aspects of conducting large -
scale functional magnetic resonance imaging
studies in children
Four dimensions of health - related quality of life were measured: general health (self - reported general health), physical health (absence or presence of
functional limitations and illness symptoms), emotional health (the Center for Epidemiologic
Studies Depression
Scale and Rosenberg's self - esteem scale), and a school and social functioning s
Scale and Rosenberg's self - esteem
scale), and a school and social functioning s
scale), and a school and social functioning
scalescale.