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 …
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 …
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
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 …
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 …
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 …
protein (LRP) have been considered to be prototypes of cargo receptors which deliver, via …
Familial hypercholesterolemia: the lipids or the genes?
Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular
disease and is often undiagnosed in young people. Although the disease is diagnosed …
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 …
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 …
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 …
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 …
age, sex, obesity, type 2 diabetes, and metabolic syndrome (MS). The prevalence of GBD is …