Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
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Reliance of host cholesterol metabolic pathways for the life cycle of hepatitis C virusSec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBpA form of the metabolic syndrome associated with mutations in DYRK1BChylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipaseLow-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasisThe PCSK9 decadeGenome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiencyEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionGene therapy for lipid disordersDetection of large deletions in the LDL receptor gene with quantitative PCR methodsFamilial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in RussiaGenetics of coronary artery disease and myocardial infarctionOptimizing Treatment of Familial Hypercholesterolemia in Children and AdolescentsStatins: definitive translational researchProfile of evolocumab and its potential in the treatment of hyperlipidemiaThe role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancersThe roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolismSolution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1Molecular basis for LDL receptor recognition by PCSK9Antagonism of Secreted PCSK9 Increases Low Density Lipoprotein Receptor Expression in HepG2 CellsTopology of human apolipoprotein E3 uniquely regulates its diverse biological functionsPCSK9 inhibitors in the prevention of cardiovascular diseaseThe closed conformation of the LDL receptor is destabilized by the low Ca(++) concentration but favored by the high Mg(++) concentration in the endosomeUroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyriaHypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene deliveryThe panorama of familial hypercholesterolemia in Latin America: a systematic review.Correlation of metabolic syndrome severity with cardiovascular health markers in adolescents.Exome sequencing in suspected monogenic dyslipidemias.Genome-wide RNAi screen reveals ALK1 mediates LDL uptake and transcytosis in endothelial cells.Rapid sizing of microsatellite alleles by gel electrophoresis on microfabricated channels: application to the D19S394 tetranucleotide repeat for cosegregation study of familial hypercholesterolemia.Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.Genetic Architecture of Familial Hypercholesterolaemia.Model of human low-density lipoprotein and bound receptor based on cryoEMEfficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia.Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemiaA new missense mutation of fibrillin in a patient with Marfan syndrome.Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
P2860
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P2860
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
description
1992 nî lūn-bûn
@nan
1992 թուականին հրատարակուած գիտական յօդուած
@hyw
1992 թվականին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@ast
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@en
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@nl
type
label
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@ast
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@en
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@nl
prefLabel
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@ast
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@en
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@nl
P2093
P3181
P356
P1433
P1476
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
@en
P2093
J L Goldstein
P2860
P304
P3181
P356
10.1002/HUMU.1380010602
P407
P577
1992-01-01T00:00:00Z