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Search results for: POLYGENIC MONOGENIC HYPERCHOLESTEROLEMIA
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Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis
PublicationBackground: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying monogenic or polygenic defect is associated with the response to rosuvastatin. Methods: FH Individuals were tested for mutations in LDLR and APOB genes. A previously established LDL-C-specific...
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Higher responsiveness to rosuvastatin in polygenic versus monogenic hypercholesterolaemia: a propensity score analysis
PublicationBackground The underlying monogenic defect in familial hypercholesterolemia (FH) can be detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C) due to having inherited a greater than average number of common LDL-C raising single nucleotide polymorphisms (SNPs). Purpose We sought to investigate, whether the monogenic or polygenic defect in FH is associated with...
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Using Convolutional Neural Networks for Corneal Arcus Detection Towards Familial Hypercholesterolemia Screening
PublicationFamilial hypercholesterolemia (FH) is a highly undiagnosed disease. Among FH patients, the onset of premature coronary artery disease is 13 times higher than in the general population. Early diagnosis and treatment is essential to prevent cardiovascular diseases and their complications, and to prolong life. One of the clinical criteria of FH is the occurrence of a corneal arcus (CA) among patients, especially those under 45 years...
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The prevalence of familiar hypercholesterolemia in patients of Lodz hospital and their treatment analysis
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The role of glucuronidation in drug resistance
PublicationThe final therapeutic effect of a drug candidate, which is directed to a specific molecular target strongly depends on its absorption, distribution, metabolism and excretion (ADME). The disruption of at least one element of ADME may result in serious drug resistance. In this work we described the role of one element of this resistance: phase II metabolism with UDP-glucuronosyltransferases (UGTs). UGT function is the transformation...
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Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants
PublicationFamilial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by substitutions in the low-density lipoprotein receptor (LDLR) gene, leading to an increased risk of premature cardiovascular diseases. Tremendous advances in sequencing techniques have resulted in the discovery of more than 3000 variants of the LDLR gene, but not all of them are clinically relevant. Therefore, functional studies of selected variants...