Mouse models of nesprin-related diseases

Mouse models of the nuclear envelopathies and related diseases. Preface.

Mouse models of human diseases

The value of the mouse as a model for human disease has become firmly established as new mutants are repeatedly validated as models of human disease and, increasingly, the similarities in the pathobiology of the two species provide new insights into disease mechanisms and aetiologies (Peters et al., 2007; Rosenthal and Brown, 2007; Justice, 2008; Brown et al., 2009). Mutant strains derived from...

MRS in mouse models of neurodegenerative diseases

Enormous progress has been made in the last decade towards elucidating the pathogenesis of human neurodegenerative diseases. The successful characterization of pathogenic mutations in several inherited diseases together with genetic engineering enabled the creation of transgenic and knock-in mouse models of human neurodegenerative diseases, such as Huntington's disease (HD), spinocerebellar ata...

orofacial manifestations of neurological diseases

چکیده ندارد.

Mouse Models of SCN5A-Related Cardiac Arrhythmias

Mutations of SCN5A gene, which encodes the α-subunit of the voltage-gated Na(+) channel Na(V)1.5, underlie hereditary cardiac arrhythmic syndromes such as the type 3 long QT syndrome, cardiac conduction diseases, the Brugada syndrome, the sick sinus syndrome, a trial standstill, and numerous overlap syndromes. Patch-clamp studies in heterologous expression systems have provided important inform...