FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2129166365> ?p ?o ?g. }

• W2129166365 endingPage "528" @default.
• W2129166365 startingPage "522" @default.
• W2129166365 abstract "Abstract —Lipoprotein(a) [Lp(a)] is a quantitative genetic trait that in the general population is largely controlled by 1 major locus—the locus for the apolipoprotein(a) [apo(a)] gene. Sibpair studies in families including familial defective apolipoprotein B or familial hypercholesterolemia (FH) heterozygotes have demonstrated that, in addition, mutations in apolipoprotein B and in the LDL receptor (LDL-R) gene may affect Lp(a) plasma concentrations, but this issue is controversial. Here, we have further investigated the influence of mutations in the LDL-R gene on Lp(a) levels by inclusion of FH homozygotes. Sixty-nine members of 22 families with FH were analyzed for mutations in the LDL-R as well as for apo(a) genotypes, apo(a) isoforms, and Lp(a) plasma levels. Twenty-six individuals were found to be homozygous for FH, and 43 were heterozygous for FH. As in our previous analysis, FH heterozygotes had significantly higher Lp(a) than did non-FH individuals from the same population. FH homozygotes with 2 nonfunctional LDL-R alleles had almost 2-fold higher Lp(a) levels than did FH heterozygotes. This increase was not explained by differences in apo(a) allele frequencies. Phenotyping of apo(a) and quantitative analysis of isoforms in family members allowed the assignment of Lp(a) levels to both isoforms in apo(a) heterozygous individuals. Thus, Lp(a) levels associated with apo(a) alleles that were identical by descent could be compared. In the resulting 40 allele pairs, significantly higher Lp(a) levels were detected in association with apo(a) alleles from individuals with 2 defective LDL-R alleles compared with those with only 1 defective allele. This difference of Lp(a) levels between allele pairs was present across the whole size range of apo(a) alleles. Hence, mutations in the LDL-R demonstrate a clear gene-dosage effect on Lp(a) plasma concentrations." @default.
• W2129166365 created "2016-06-24" @default.
• W2129166365 creator A5016665711 @default.
• W2129166365 creator A5018090718 @default.
• W2129166365 creator A5044425699 @default.
• W2129166365 creator A5056429133 @default.
• W2129166365 creator A5084492783 @default.
• W2129166365 date "2000-02-01" @default.
• W2129166365 modified "2023-10-06" @default.
• W2129166365 title "Lipoprotein(a) in Homozygous Familial Hypercholesterolemia" @default.
• W2129166365 cites W1598864384 @default.
• W2129166365 cites W1643136010 @default.
• W2129166365 cites W1969447994 @default.
• W2129166365 cites W1979754520 @default.
• W2129166365 cites W1981099194 @default.
• W2129166365 cites W1985025463 @default.
• W2129166365 cites W2000322053 @default.
• W2129166365 cites W2002146594 @default.
• W2129166365 cites W2027406869 @default.
• W2129166365 cites W2050304225 @default.
• W2129166365 cites W2053361508 @default.
• W2129166365 cites W2079473824 @default.
• W2129166365 cites W2083231110 @default.
• W2129166365 cites W2084744450 @default.
• W2129166365 cites W2091410379 @default.
• W2129166365 cites W2093535758 @default.
• W2129166365 cites W2118094114 @default.
• W2129166365 cites W2119998731 @default.
• W2129166365 cites W2121966013 @default.
• W2129166365 cites W2133826860 @default.
• W2129166365 cites W2164982845 @default.
• W2129166365 cites W2181673250 @default.
• W2129166365 cites W2183706727 @default.
• W2129166365 cites W2185638699 @default.
• W2129166365 cites W2329533302 @default.
• W2129166365 cites W2462003006 @default.
• W2129166365 cites W2782819586 @default.
• W2129166365 doi "https://doi.org/10.1161/01.atv.20.2.522" @default.
• W2129166365 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10669652" @default.
• W2129166365 hasPublicationYear "2000" @default.
• W2129166365 type Work @default.
• W2129166365 sameAs 2129166365 @default.
• W2129166365 citedByCount "114" @default.
• W2129166365 countsByYear W21291663652012 @default.
• W2129166365 countsByYear W21291663652013 @default.
• W2129166365 countsByYear W21291663652014 @default.
• W2129166365 countsByYear W21291663652015 @default.
• W2129166365 countsByYear W21291663652016 @default.
• W2129166365 countsByYear W21291663652017 @default.
• W2129166365 countsByYear W21291663652018 @default.
• W2129166365 countsByYear W21291663652019 @default.
• W2129166365 countsByYear W21291663652020 @default.
• W2129166365 countsByYear W21291663652021 @default.
• W2129166365 countsByYear W21291663652022 @default.
• W2129166365 countsByYear W21291663652023 @default.
• W2129166365 crossrefType "journal-article" @default.
• W2129166365 hasAuthorship W2129166365A5016665711 @default.
• W2129166365 hasAuthorship W2129166365A5018090718 @default.
• W2129166365 hasAuthorship W2129166365A5044425699 @default.
• W2129166365 hasAuthorship W2129166365A5056429133 @default.
• W2129166365 hasAuthorship W2129166365A5084492783 @default.
• W2129166365 hasBestOaLocation W21291663651 @default.
• W2129166365 hasConcept C104317684 @default.
• W2129166365 hasConcept C126322002 @default.
• W2129166365 hasConcept C134018914 @default.
• W2129166365 hasConcept C135763542 @default.
• W2129166365 hasConcept C153471976 @default.
• W2129166365 hasConcept C180754005 @default.
• W2129166365 hasConcept C2776104379 @default.
• W2129166365 hasConcept C2778163477 @default.
• W2129166365 hasConcept C2779120738 @default.
• W2129166365 hasConcept C2780072125 @default.
• W2129166365 hasConcept C2908647359 @default.
• W2129166365 hasConcept C43554185 @default.
• W2129166365 hasConcept C54355233 @default.
• W2129166365 hasConcept C62746215 @default.
• W2129166365 hasConcept C71924100 @default.
• W2129166365 hasConcept C84597430 @default.
• W2129166365 hasConcept C86803240 @default.
• W2129166365 hasConcept C99454951 @default.
• W2129166365 hasConceptScore W2129166365C104317684 @default.
• W2129166365 hasConceptScore W2129166365C126322002 @default.
• W2129166365 hasConceptScore W2129166365C134018914 @default.
• W2129166365 hasConceptScore W2129166365C135763542 @default.
• W2129166365 hasConceptScore W2129166365C153471976 @default.
• W2129166365 hasConceptScore W2129166365C180754005 @default.
• W2129166365 hasConceptScore W2129166365C2776104379 @default.
• W2129166365 hasConceptScore W2129166365C2778163477 @default.
• W2129166365 hasConceptScore W2129166365C2779120738 @default.
• W2129166365 hasConceptScore W2129166365C2780072125 @default.
• W2129166365 hasConceptScore W2129166365C2908647359 @default.
• W2129166365 hasConceptScore W2129166365C43554185 @default.
• W2129166365 hasConceptScore W2129166365C54355233 @default.
• W2129166365 hasConceptScore W2129166365C62746215 @default.
• W2129166365 hasConceptScore W2129166365C71924100 @default.
• W2129166365 hasConceptScore W2129166365C84597430 @default.
• W2129166365 hasConceptScore W2129166365C86803240 @default.
• W2129166365 hasConceptScore W2129166365C99454951 @default.

• next