FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3200831240> ?p ?o ?g. }

• W3200831240 abstract "As an autosomal dominant disorder, familial hypercholesterolemia (FH) is mainly attributed to disease-causing variants in the low-density lipoprotein receptor (LDLR) gene. The aim of this study was to explore the molecular mechanism of LDLR c.501C>A variant in FH and assess the efficacy of proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitor treatment for FH patients.The whole-exome sequencing was performed on two families to identify disease-causing variants, which were verified by Sanger sequencing. The function of LDLR variant was further explored in HEK293 cells by Western Blot and confocal microscopy. Besides, the therapeutic effects of PCSK9 inhibitor treatment for two probands were assessed for 3 months.All members of the two families with the LDLR c.501C>A variant showed high levels of LDLC. The relationship between the clinical phenotype and LDLR variants was confirmed in the current study. Both in silico and in vitro analyses showed that LDLR c.501C>A variant decreased LDLR expression and LDL uptake. PCSK9 inhibitor treatment lowered the lipid level in proband 1 by 24.91%. However, the treatment was ineffective for proband 2. A follow-up study revealed that the PCSK9 inhibitor treatment had low ability of lipid-lowering effect in the patients.LDLR c.501C>A variant might be pathogenic for FH. The PCSK9 inhibitor therapy is not a highly effective option for treatment of FH patients with LDLR c.501C>A variant." @default.
• W3200831240 created "2021-09-27" @default.
• W3200831240 creator A5015696308 @default.
• W3200831240 creator A5032764121 @default.
• W3200831240 creator A5044683261 @default.
• W3200831240 creator A5046561927 @default.
• W3200831240 creator A5050910023 @default.
• W3200831240 creator A5073838859 @default.
• W3200831240 date "2021-09-12" @default.
• W3200831240 modified "2023-10-08" @default.
• W3200831240 title "The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia" @default.
• W3200831240 cites W1969223643 @default.
• W3200831240 cites W1980550449 @default.
• W3200831240 cites W2023735564 @default.
• W3200831240 cites W2051978340 @default.
• W3200831240 cites W2084461367 @default.
• W3200831240 cites W2104211766 @default.
• W3200831240 cites W2114918865 @default.
• W3200831240 cites W2129861164 @default.
• W3200831240 cites W2142627469 @default.
• W3200831240 cites W2165624352 @default.
• W3200831240 cites W2165791625 @default.
• W3200831240 cites W2169371009 @default.
• W3200831240 cites W2176716999 @default.
• W3200831240 cites W2308306837 @default.
• W3200831240 cites W2352216743 @default.
• W3200831240 cites W2556697253 @default.
• W3200831240 cites W2594072057 @default.
• W3200831240 cites W2596015238 @default.
• W3200831240 cites W2778912952 @default.
• W3200831240 cites W2789182720 @default.
• W3200831240 cites W2808064658 @default.
• W3200831240 cites W2894066152 @default.
• W3200831240 cites W2898452542 @default.
• W3200831240 cites W2914106899 @default.
• W3200831240 cites W2963265960 @default.
• W3200831240 cites W2991355134 @default.
• W3200831240 cites W2998900287 @default.
• W3200831240 cites W3011304030 @default.
• W3200831240 cites W3045914869 @default.
• W3200831240 cites W3095453379 @default.
• W3200831240 cites W3103325438 @default.
• W3200831240 cites W4243500197 @default.
• W3200831240 doi "https://doi.org/10.1186/s12944-021-01536-3" @default.
• W3200831240 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8436568" @default.
• W3200831240 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34511120" @default.
• W3200831240 hasPublicationYear "2021" @default.
• W3200831240 type Work @default.
• W3200831240 sameAs 3200831240 @default.
• W3200831240 citedByCount "3" @default.
• W3200831240 countsByYear W32008312402021 @default.
• W3200831240 countsByYear W32008312402023 @default.
• W3200831240 crossrefType "journal-article" @default.
• W3200831240 hasAuthorship W3200831240A5015696308 @default.
• W3200831240 hasAuthorship W3200831240A5032764121 @default.
• W3200831240 hasAuthorship W3200831240A5044683261 @default.
• W3200831240 hasAuthorship W3200831240A5046561927 @default.
• W3200831240 hasAuthorship W3200831240A5050910023 @default.
• W3200831240 hasAuthorship W3200831240A5073838859 @default.
• W3200831240 hasBestOaLocation W32008312401 @default.
• W3200831240 hasConcept C104317684 @default.
• W3200831240 hasConcept C126322002 @default.
• W3200831240 hasConcept C134018914 @default.
• W3200831240 hasConcept C188997412 @default.
• W3200831240 hasConcept C2778163477 @default.
• W3200831240 hasConcept C2778824825 @default.
• W3200831240 hasConcept C2778849439 @default.
• W3200831240 hasConcept C2779120738 @default.
• W3200831240 hasConcept C2780072125 @default.
• W3200831240 hasConcept C2780948078 @default.
• W3200831240 hasConcept C43554185 @default.
• W3200831240 hasConcept C501734568 @default.
• W3200831240 hasConcept C54355233 @default.
• W3200831240 hasConcept C71924100 @default.
• W3200831240 hasConcept C76818968 @default.
• W3200831240 hasConcept C86803240 @default.
• W3200831240 hasConceptScore W3200831240C104317684 @default.
• W3200831240 hasConceptScore W3200831240C126322002 @default.
• W3200831240 hasConceptScore W3200831240C134018914 @default.
• W3200831240 hasConceptScore W3200831240C188997412 @default.
• W3200831240 hasConceptScore W3200831240C2778163477 @default.
• W3200831240 hasConceptScore W3200831240C2778824825 @default.
• W3200831240 hasConceptScore W3200831240C2778849439 @default.
• W3200831240 hasConceptScore W3200831240C2779120738 @default.
• W3200831240 hasConceptScore W3200831240C2780072125 @default.
• W3200831240 hasConceptScore W3200831240C2780948078 @default.
• W3200831240 hasConceptScore W3200831240C43554185 @default.
• W3200831240 hasConceptScore W3200831240C501734568 @default.
• W3200831240 hasConceptScore W3200831240C54355233 @default.
• W3200831240 hasConceptScore W3200831240C71924100 @default.
• W3200831240 hasConceptScore W3200831240C76818968 @default.
• W3200831240 hasConceptScore W3200831240C86803240 @default.
• W3200831240 hasFunder F4320332587 @default.
• W3200831240 hasFunder F4320338464 @default.
• W3200831240 hasIssue "1" @default.
• W3200831240 hasLocation W32008312401 @default.
• W3200831240 hasLocation W32008312402 @default.
• W3200831240 hasLocation W32008312403 @default.
• W3200831240 hasOpenAccess W3200831240 @default.
• W3200831240 hasPrimaryLocation W32008312401 @default.

• next