Matches in SemOpenAlex for { <https://semopenalex.org/work/W3117378569> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W3117378569 abstract "Familial hypercholesterolaemia (FH) is characterized by high plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease risk. Mutations in the genes that encode proteins involved in LDL uptake and catabolism, including LDL-receptor (LDLR) and apolipoprotein-B (APOB), are known to cause FH. We present the case of a severely affected FH proband with two mutations in two different causing genes and characterize her first-degree blood relatives. The proband was a 54-year-old woman with a severe FH phenotype with treated LDL-C of 8.3 mmol/L, total cholesterol (TC) level of 11.6 mmol/L, peripheral artery disease, early myocardial infarction, aortic stenosis, and carotid artery disease. Exons of the LDLR and APOB genes were amplified by polymerase chain reactions (PCR). PCR products were examined by pyrosequencing and proven by bidirectional DNA sequencing. The proband was heterozygous for both the LDLR c.420G>C (p.Glu140Asp) mutation known to be pathogenic and a rare APOB c.10708C>T (p.His3570Tyr) mutation with unproven pathogenicity. Cascade testing has been performed in her 15 first-degree blood relatives. Her daughter carries only the LDLR c.420 G>C mutation with a TC of 8.4 mmol/L. Her two sisters carry only the APOB c.10708C>T with a TC of 5.7 and 6.2 mmol/L. This case provides evidence that the rare APOB c.10708C>T mutation alone is not pathogenic, but has a synergic effect on LDLR mutation. The finding is important for understanding the genotype-phenotype correlation and highlights the need to consider the presence of additional mutations in FH families where relatives have varying phenotypes." @default.
- W3117378569 created "2021-01-05" @default.
- W3117378569 creator A5002306496 @default.
- W3117378569 creator A5018343025 @default.
- W3117378569 creator A5025485538 @default.
- W3117378569 creator A5039117178 @default.
- W3117378569 creator A5078336359 @default.
- W3117378569 date "2020-12-20" @default.
- W3117378569 modified "2023-10-16" @default.
- W3117378569 title "A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient" @default.
- W3117378569 cites W1980126902 @default.
- W3117378569 cites W2024334311 @default.
- W3117378569 cites W2057394745 @default.
- W3117378569 cites W2058500316 @default.
- W3117378569 cites W2064309864 @default.
- W3117378569 cites W2068027072 @default.
- W3117378569 cites W2071663212 @default.
- W3117378569 cites W2099801140 @default.
- W3117378569 cites W2110078010 @default.
- W3117378569 cites W2114918865 @default.
- W3117378569 cites W2142627469 @default.
- W3117378569 cites W2153159453 @default.
- W3117378569 cites W2165791625 @default.
- W3117378569 cites W2166200597 @default.
- W3117378569 cites W2519881322 @default.
- W3117378569 cites W2553648370 @default.
- W3117378569 cites W2582766816 @default.
- W3117378569 cites W2736457837 @default.
- W3117378569 cites W2953597020 @default.
- W3117378569 doi "https://doi.org/10.7759/cureus.12184" @default.
- W3117378569 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7814514" @default.
- W3117378569 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33489595" @default.
- W3117378569 hasPublicationYear "2020" @default.
- W3117378569 type Work @default.
- W3117378569 sameAs 3117378569 @default.
- W3117378569 citedByCount "1" @default.
- W3117378569 countsByYear W31173785692022 @default.
- W3117378569 crossrefType "journal-article" @default.
- W3117378569 hasAuthorship W3117378569A5002306496 @default.
- W3117378569 hasAuthorship W3117378569A5018343025 @default.
- W3117378569 hasAuthorship W3117378569A5025485538 @default.
- W3117378569 hasAuthorship W3117378569A5039117178 @default.
- W3117378569 hasAuthorship W3117378569A5078336359 @default.
- W3117378569 hasBestOaLocation W31173785691 @default.
- W3117378569 hasConcept C104317684 @default.
- W3117378569 hasConcept C126322002 @default.
- W3117378569 hasConcept C134018914 @default.
- W3117378569 hasConcept C188997412 @default.
- W3117378569 hasConcept C2778163477 @default.
- W3117378569 hasConcept C2779120738 @default.
- W3117378569 hasConcept C2780072125 @default.
- W3117378569 hasConcept C43554185 @default.
- W3117378569 hasConcept C501734568 @default.
- W3117378569 hasConcept C54355233 @default.
- W3117378569 hasConcept C62746215 @default.
- W3117378569 hasConcept C71924100 @default.
- W3117378569 hasConcept C86803240 @default.
- W3117378569 hasConceptScore W3117378569C104317684 @default.
- W3117378569 hasConceptScore W3117378569C126322002 @default.
- W3117378569 hasConceptScore W3117378569C134018914 @default.
- W3117378569 hasConceptScore W3117378569C188997412 @default.
- W3117378569 hasConceptScore W3117378569C2778163477 @default.
- W3117378569 hasConceptScore W3117378569C2779120738 @default.
- W3117378569 hasConceptScore W3117378569C2780072125 @default.
- W3117378569 hasConceptScore W3117378569C43554185 @default.
- W3117378569 hasConceptScore W3117378569C501734568 @default.
- W3117378569 hasConceptScore W3117378569C54355233 @default.
- W3117378569 hasConceptScore W3117378569C62746215 @default.
- W3117378569 hasConceptScore W3117378569C71924100 @default.
- W3117378569 hasConceptScore W3117378569C86803240 @default.
- W3117378569 hasLocation W31173785691 @default.
- W3117378569 hasLocation W31173785692 @default.
- W3117378569 hasLocation W31173785693 @default.
- W3117378569 hasLocation W31173785694 @default.
- W3117378569 hasOpenAccess W3117378569 @default.
- W3117378569 hasPrimaryLocation W31173785691 @default.
- W3117378569 hasRelatedWork W10351664 @default.
- W3117378569 hasRelatedWork W10537970 @default.
- W3117378569 hasRelatedWork W14539860 @default.
- W3117378569 hasRelatedWork W15131468 @default.
- W3117378569 hasRelatedWork W15216802 @default.
- W3117378569 hasRelatedWork W18958040 @default.
- W3117378569 hasRelatedWork W3180159 @default.
- W3117378569 hasRelatedWork W8532267 @default.
- W3117378569 hasRelatedWork W9201010 @default.
- W3117378569 hasRelatedWork W20098039 @default.
- W3117378569 isParatext "false" @default.
- W3117378569 isRetracted "false" @default.
- W3117378569 magId "3117378569" @default.
- W3117378569 workType "article" @default.