Statins lower plasma cholesterol by upregulating LDL receptor gene expression and are consequently relatively ineffective in homozygous familial hypercholesterolemia (HoFH). The standard treatment ...

The most common is autosomal recessive, type 1, which is associated with HFEmutations, predominantly C282Y homozygous and rarely C282Y/H63D compound heterozygous. The highest prevalence of C282Y ...

Wildype line. Homozygous for leot1 and lofdt2. Obtained from a dealer and kept by raising mixed eggs from different egg lays of well-laying females. leot1 is a recessive mutation causing spotting in ...

The goal is to treat familial dysautonomia patients with a single injection.

A complex set of recessive disorders, Naxos disease (ARVD/C associated with palmoplantar keratoderma and woolly hair) and Carvajal syndrome (same as Naxos disease except affects LV), have been shown ...

This month's cover highlights the article The Dystrophin-Dystroglycan complex ensures cytokinesis efficiency in Drosophila epithelia by Eurico Morais-de-Sá, Margarida Gonçalves and colleagues. The ...

6 Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia Correspondence to Associate Professor Steve Vucic, Sydney Medical School Westmead, University of ...

1 Academic Unit of Medical Genetics, St Mary’s Hospital, University of Manchester, Manchester, UK 2 Centre for Molecular Medicine, Faculty of Medical and Human Sciences, University of Manchester, ...

The actin cytoskeleton is composed of a dynamic filament meshwork that builds the architecture of the cell to sustain its fundamental properties. This physical structure is characterized by a ...

Hemizygous P23H-1 rats were produced by crossing homozygous transgenic P23H line 1 rats, obtained from Matthew LaVail (University of California, San Francisco School of Medicine) (43), with wild-type ...