Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary
heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels …

Aims The first aim was to critically evaluate the extent to which familial hypercholesterolaemia
(FH) is underdiagnosed and undertreated. The second aim was to provide guidance for …

Aims Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition
characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (…

Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart
disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated …

The discovery of autosomal dominant hypercholesterolemic patients with mutations in the
PCSK9 gene, encoding the proprotein convertase NARC-1, resulting in the missense …

Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye,
skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (…

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable …

The cytokines controlling the development of human interleukin (IL) 17–producing T helper
cells in vitro have been difficult to identify. We addressed the question of the development of …

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on
chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan …

A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be
inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two …