FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1566608114> ?p ?o ?g. }

• W1566608114 abstract "The primary function of plasma lipoproteins is to transport newly synthesised or dietary lipids in the circulation; these water-insoluble substances include triacylglycerol, cholesterol and fat-soluble vitamins. Mutations in genes for the many enzymes, receptors and structural proteins that regulate lipoprotein metabolism and transport are often detrimental to health, and may increase the amount of normal lipoproteins, result in accumulation of abnormal lipoproteins or cause lipoprotein deficiencies. Some defects increase the risk of coronary heart disease, whereas other deficiency disorders cause neurological and/or gastrointestinal symptoms. Genetic disorders of lipoprotein metabolism highlight the importance of lipid transport and metabolism in normal human physiology.Key Concepts Normal regulation of plasma lipoprotein metabolism is critical for transport of lipids and fat-soluble vitamins in the circulation.Once secreted from cells in the liver or intestine, lipoproteins undergo many complex metabolic changes in the blood circulation brought about by enzymes and their cofactors, exchange factors and cell-surface receptors.Variation in the genes for these proteins can alter their function and cause changes in the composition, concentration and/or function of plasma lipoproteins that are frequently deleterious to health.Several defects in lipoprotein metabolism result in increased risk of premature coronary heart disease because of cholesterol deposition in the blood vessels, whereas others lead to neurological symptoms due to deficiency of fat-soluble vitamins.The inheritance pattern varies: most known lipoprotein disorders are monogenic, with either autosomal dominant inheritance, where heterozygous carriers are affected or autosomal recessive inheritance, where heterozygous carriers are apparently unaffected. Some dominantly inherited disorders have a gene dosage effect, where homozygous individuals are more severely affected than heterozygous ones.Some gene variants only have a marked physiological effect in a particular genetic or environmental background, so not all carriers are affected.Families exist who have a clinical phenotype characteristic of a known monogenic disorder, but who have no detectable defect in the known causal genes; this suggests that novel genes still remain to be identified that influence lipoprotein metabolism.One of the commonest inherited disorders, familial combined hyperlipidaemia, is not monogenic and requires several gene variants to be present for symptoms to be manifest. These variants are also unlikely to be the same for all families.Keywords:lipid metabolism;atherosclerosis;hyperlipidaemia;coronary heart disease;mutations;fat-soluble vitamin deficiency" @default.
• W1566608114 created "2016-06-24" @default.
• W1566608114 creator A5077236532 @default.
• W1566608114 date "2009-09-15" @default.
• W1566608114 modified "2023-09-28" @default.
• W1566608114 title "Lipoproteins: Genetic Disorders" @default.
• W1566608114 cites W1692442206 @default.
• W1566608114 cites W1817964822 @default.
• W1566608114 cites W1854805603 @default.
• W1566608114 cites W1972021378 @default.
• W1566608114 cites W1975135694 @default.
• W1566608114 cites W1980101604 @default.
• W1566608114 cites W1982975022 @default.
• W1566608114 cites W1989115810 @default.
• W1566608114 cites W1993601321 @default.
• W1566608114 cites W1995958002 @default.
• W1566608114 cites W2000991693 @default.
• W1566608114 cites W2003283414 @default.
• W1566608114 cites W2015849111 @default.
• W1566608114 cites W2023466812 @default.
• W1566608114 cites W2023589637 @default.
• W1566608114 cites W2036362108 @default.
• W1566608114 cites W2039248941 @default.
• W1566608114 cites W2040612932 @default.
• W1566608114 cites W2046797281 @default.
• W1566608114 cites W2055571770 @default.
• W1566608114 cites W2062860983 @default.
• W1566608114 cites W2063174765 @default.
• W1566608114 cites W2065471414 @default.
• W1566608114 cites W2067539811 @default.
• W1566608114 cites W2076695593 @default.
• W1566608114 cites W2076917262 @default.
• W1566608114 cites W2084744450 @default.
• W1566608114 cites W2095507444 @default.
• W1566608114 cites W2096397962 @default.
• W1566608114 cites W2098945650 @default.
• W1566608114 cites W2099640897 @default.
• W1566608114 cites W2104502700 @default.
• W1566608114 cites W2107601712 @default.
• W1566608114 cites W2108076055 @default.
• W1566608114 cites W2110298926 @default.
• W1566608114 cites W2114918865 @default.
• W1566608114 cites W2118073331 @default.
• W1566608114 cites W2119273273 @default.
• W1566608114 cites W2129883875 @default.
• W1566608114 cites W2139575534 @default.
• W1566608114 cites W2141191772 @default.
• W1566608114 cites W2142802148 @default.
• W1566608114 cites W2148086780 @default.
• W1566608114 cites W2148771607 @default.
• W1566608114 cites W2154268171 @default.
• W1566608114 cites W2158340752 @default.
• W1566608114 cites W2159054534 @default.
• W1566608114 cites W2159181237 @default.
• W1566608114 cites W2159952892 @default.
• W1566608114 cites W2161615797 @default.
• W1566608114 cites W2167246407 @default.
• W1566608114 cites W2187552100 @default.
• W1566608114 cites W2285846084 @default.
• W1566608114 cites W2340994834 @default.
• W1566608114 cites W2431855112 @default.
• W1566608114 doi "https://doi.org/10.1002/9780470015902.a0002279.pub2" @default.
• W1566608114 hasPublicationYear "2009" @default.
• W1566608114 type Work @default.
• W1566608114 sameAs 1566608114 @default.
• W1566608114 citedByCount "0" @default.
• W1566608114 crossrefType "reference-entry" @default.
• W1566608114 hasAuthorship W1566608114A5077236532 @default.
• W1566608114 hasConcept C126322002 @default.
• W1566608114 hasConcept C134018914 @default.
• W1566608114 hasConcept C2778163477 @default.
• W1566608114 hasConcept C2780072125 @default.
• W1566608114 hasConcept C71924100 @default.
• W1566608114 hasConcept C86803240 @default.
• W1566608114 hasConceptScore W1566608114C126322002 @default.
• W1566608114 hasConceptScore W1566608114C134018914 @default.
• W1566608114 hasConceptScore W1566608114C2778163477 @default.
• W1566608114 hasConceptScore W1566608114C2780072125 @default.
• W1566608114 hasConceptScore W1566608114C71924100 @default.
• W1566608114 hasConceptScore W1566608114C86803240 @default.
• W1566608114 hasLocation W15666081141 @default.
• W1566608114 hasOpenAccess W1566608114 @default.
• W1566608114 hasPrimaryLocation W15666081141 @default.
• W1566608114 hasRelatedWork W108071359 @default.
• W1566608114 hasRelatedWork W1521354218 @default.
• W1566608114 hasRelatedWork W1966951625 @default.
• W1566608114 hasRelatedWork W1982122125 @default.
• W1566608114 hasRelatedWork W2016893082 @default.
• W1566608114 hasRelatedWork W2027129231 @default.
• W1566608114 hasRelatedWork W2029229663 @default.
• W1566608114 hasRelatedWork W2034958718 @default.
• W1566608114 hasRelatedWork W2066665140 @default.
• W1566608114 hasRelatedWork W2082385872 @default.
• W1566608114 hasRelatedWork W2101967622 @default.
• W1566608114 hasRelatedWork W2142615976 @default.
• W1566608114 hasRelatedWork W2171080383 @default.
• W1566608114 hasRelatedWork W23281666 @default.
• W1566608114 hasRelatedWork W2379387657 @default.
• W1566608114 hasRelatedWork W2414094045 @default.
• W1566608114 hasRelatedWork W2414121661 @default.

• next