Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

MA Austin, CM Hutter, RL Zimmern… - American journal of …, 2004 - academic.oup.com
The clinical phenotype of heterozygous familial hypercholesterolemia (FH) is characterized
by increased plasma levels of total cholesterol and low density lipoprotein cholesterol …

Diagnosis and treatment of familial hypercholesterolaemia

GK Hovingh, MH Davidson, JJP Kastelein… - European heart …, 2013 - academic.oup.com
Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, associated
with elevated levels of low-density lipoprotein-cholesterol (LDL-C), which can lead to …

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

CK Garcia, K Wilund, M Arca, G Zuliani, R Fellin… - Science, 2001 - science.org
Atherogenic low density lipoproteins are cleared from the circulation by hepatic low density
lipoprotein receptors (LDLR). Two inherited forms of hypercholesterolemia result from loss of …

Sorting it out: AP-2 and alternate clathrin adaptors in endocytic cargo selection

LM Traub - The Journal of cell biology, 2003 - rupress.org
The AP-2 adaptor complex is widely viewed as a linchpin molecule in clathrin-mediated
endocytosis, simultaneously binding both clathrin and receptors. This dual interaction …

LDL receptor relatives at the crossroad of endocytosis and signaling

WJ Schneider, J Nimpf - Cellular and Molecular Life Sciences CMLS, 2003 - Springer
For many years, the low-density lipoprotein (LDL) receptor and the LDL receptor-related
protein (LRP) have been considered to be prototypes of cargo receptors which deliver, via …

Familial hypercholesterolemia: the lipids or the genes?

AC Fahed, GM Nemer - Nutrition & Metabolism, 2011 - Springer
Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular
disease and is often undiagnosed in young people. Although the disease is diagnosed …

The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification

R Fellin, M Arca, G Zuliani, S Calandra, S Bertolini - Gene, 2015 - Elsevier
The most frequent form of monogenic hypercholesterolemia, also known as Familial
Hypercholesterolemia (FH), is characterized by plasma accumulation of cholesterol …

Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia

AK Soutar, RP Naoumova, LM Traub - … , thrombosis, and vascular …, 2003 - Am Heart Assoc
The recent characterization of a rare genetic defect causing autosomal recessive
hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of …

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

S Amsellem, D Briffaut, A Carrié, J Rabès, J Girardet… - Human genetics, 2002 - Springer
Familial hypercholesterolemia (FH), a frequent monogenic condition complicated by
premature cardiovascular disease, is characterized by high allelic heterogeneity at the low …

A genomewide search finds major susceptibility loci for gallbladder disease on chromosome 1 in Mexican Americans

S Puppala, GD Dodd, S Fowler, R Arya… - The American Journal of …, 2006 - cell.com
Gallbladder disease (GBD) is one of the major digestive diseases. Its risk factors include
age, sex, obesity, type 2 diabetes, and metabolic syndrome (MS). The prevalence of GBD is …