Molecular Basis of Autosomal Dominant Hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Genetics Molecular Basis of Autosomal Dominant Hypercholesterolemia Assessment in a Large Cohort of Hypercholesterolemic Children
Background—Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and premature cardiovascular disease. Mutations in the genes encoding for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) underlie ADH. Nevertheless, a proportion of individuals who exhibit the ADH...
متن کاملMolecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
BACKGROUND Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and premature cardiovascular disease. Mutations in the genes encoding for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) underlie ADH. Nevertheless, a proportion of individuals who exhibit the ADH...
متن کاملMolecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9(proprotein convertase subtilisin-kexin type 9). Through the French ADH Research Network, we collected molecular data from 1358 French proba...
متن کاملMolecular mechanisms of autosomal recessive hypercholesterolemia.
PURPOSE OF REVIEW Autosomal recessive hypercholesterolemia (ARH) is a rare Mendelian dyslipidemia characterized by markedly elevated plasma LDL levels, xanthomatosis, and premature coronary artery disease. LDL receptor function is normal, or only moderately impaired in fibroblasts from ARH patients, but their cultured lymphocytes show increased cell-surface LDL binding, and impaired LDL degrada...
متن کاملGlobal molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Autosomal dominant hypercholesterolemia (ADH) is a human disorder characterized phenotypically by isolated high-cholesterol levels. Mutations in the low density lipoprotein receptor (LDLR), APOB, and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes are well known to be associated with the disease. To characterize the genetic background associated with ADH in France, the three ADH-ass...
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ژورنال
عنوان ژورنال: Circulation
سال: 2011
ISSN: 0009-7322,1524-4539
DOI: 10.1161/circulationaha.110.979450