Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
about
Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularlyGenetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease riskMechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskProprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseasesCholesterol: the good, the bad, and the ugly - therapeutic targets for the treatment of dyslipidemiaMolecular biology of PCSK9: its role in LDL metabolismLDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.Familial hypercholesterolemia: the lipids or the genes?Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia.Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.Common and rare gene variants affecting plasma LDL cholesterolWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Statins and ezetimibe modulate plasma proprotein convertase subtilisin kexin-9 (PCSK9) levels.Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.Microsomal transfer protein (MTP) inhibition-a novel approach to the treatment of homozygous hypercholesterolemia.Genetics of familial hypercholesterolemia.The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.The regulated cell surface zymogen activation of the proprotein convertase PC5A directs the processing of its secretory substrates.New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
P2860
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P2860
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Additive effect of mutations i ...... familial hypercholesterolemia.
@ast
Additive effect of mutations i ...... familial hypercholesterolemia.
@en
Additive effect of mutations i ...... familial hypercholesterolemia.
@nl
type
label
Additive effect of mutations i ...... familial hypercholesterolemia.
@ast
Additive effect of mutations i ...... familial hypercholesterolemia.
@en
Additive effect of mutations i ...... familial hypercholesterolemia.
@nl
prefLabel
Additive effect of mutations i ...... familial hypercholesterolemia.
@ast
Additive effect of mutations i ...... familial hypercholesterolemia.
@en
Additive effect of mutations i ...... familial hypercholesterolemia.
@nl
P2093
P50
P1433
P1476
Additive effect of mutations i ...... familial hypercholesterolemia.
@en
P2093
Alfredo Cantafora
Angelo Baldassare Cefalù
Antonella Bellocchio
Claudio Priore Oliva
Dilip Patel
Livia Pisciotta
Raffaele Fresa
Sebastiano Calandra
Stefano Bertolini
P304
P356
10.1016/J.ATHEROSCLEROSIS.2005.08.015
P577
2005-09-23T00:00:00Z