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• W2997913118 startingPage "103831" @default.
• W2997913118 abstract "Familial hypercholesterolemia (FH) is the most frequent genetic disease and is characterized by elevation of LDL-cholesterol that accumulates in tissues leading to premature atherosclerosis and sometime tendon xanthomas. Main causes of FH are pathogenic variants in the genes encoding the LDL receptor (LDLR), its ligand - the apolipoprotein B (APOB) - or Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9). Rarer causes include variants in genes encoding apolipoprotein E (APOE) and the signal-transducing adaptor family member 1 (STAP1). Genetics of FH is extremely complicated by 1. high heterogeneity, 2. presence of variant clusters and 3. phenotypic variability. In fact, a great variability was observed among patients with the same genetic status: an overlap of LDL-cholesterol levels was observed between heterozygous patients (HeFH) and homozygous FH patients, as well as some HeFH showed a normal lipid profile. A correct pathogenicity evaluation is the first step to correctly define the genetic status helping to identify the variants which really cause the FH. Several phenotypic differences were observed among HeFH patients carrying different variant types (null or defective) or variants in different affected genes. Patients with a null variant in LDLR gene showed higher LDL-cholesterol levels and higher risk for coronary artery disease than patients with a defective variant. Pathogenic variants in several lipid-related genes causing different dyslipidemias were found among FH patients acting as both modifying factors (worsening the phenotype) and confounding factors (needing a differential diagnosis to be discriminated from FH). This review aims at depicting the complex genetic basis of FH." @default.
• W2997913118 created "2020-01-10" @default.
• W2997913118 creator A5020143180 @default.
• W2997913118 creator A5050283985 @default.
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• W2997913118 date "2020-04-01" @default.
• W2997913118 modified "2023-10-17" @default.
• W2997913118 title "Familial hypercholesterolemia: A complex genetic disease with variable phenotypes" @default.
• W2997913118 cites W1485806819 @default.
• W2997913118 cites W1964291389 @default.
• W2997913118 cites W1969223643 @default.
• W2997913118 cites W1988942944 @default.
• W2997913118 cites W1996033672 @default.
• W2997913118 cites W2003621342 @default.
• W2997913118 cites W2010412420 @default.
• W2997913118 cites W2019757445 @default.
• W2997913118 cites W2020221316 @default.
• W2997913118 cites W2032103410 @default.
• W2997913118 cites W2037531950 @default.
• W2997913118 cites W2051978340 @default.
• W2997913118 cites W2053383163 @default.
• W2997913118 cites W2066805079 @default.
• W2997913118 cites W2068027072 @default.
• W2997913118 cites W2069532016 @default.
• W2997913118 cites W2072770085 @default.
• W2997913118 cites W2094507500 @default.
• W2997913118 cites W2102926989 @default.
• W2997913118 cites W2104299102 @default.
• W2997913118 cites W2105541785 @default.
• W2997913118 cites W2109770394 @default.
• W2997913118 cites W2124326106 @default.
• W2997913118 cites W2124924684 @default.
• W2997913118 cites W2127547407 @default.
• W2997913118 cites W2143495933 @default.
• W2997913118 cites W2146922855 @default.
• W2997913118 cites W2148945669 @default.
• W2997913118 cites W2153159453 @default.
• W2997913118 cites W2161694710 @default.
• W2997913118 cites W2164565099 @default.
• W2997913118 cites W2165624352 @default.
• W2997913118 cites W2165791625 @default.
• W2997913118 cites W2166788857 @default.
• W2997913118 cites W2238168989 @default.
• W2997913118 cites W2304906097 @default.
• W2997913118 cites W2312052109 @default.
• W2997913118 cites W2402263753 @default.
• W2997913118 cites W2410774145 @default.
• W2997913118 cites W2468992240 @default.
• W2997913118 cites W2509676484 @default.
• W2997913118 cites W253324400 @default.
• W2997913118 cites W2537999615 @default.
• W2997913118 cites W2540007944 @default.
• W2997913118 cites W2554103304 @default.
• W2997913118 cites W2556697253 @default.
• W2997913118 cites W2567297878 @default.
• W2997913118 cites W2586017489 @default.
• W2997913118 cites W2602889888 @default.
• W2997913118 cites W2736457837 @default.
• W2997913118 cites W2750646243 @default.
• W2997913118 cites W2757992992 @default.
• W2997913118 cites W2758199310 @default.
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• W2997913118 cites W2766271576 @default.
• W2997913118 cites W2767409175 @default.
• W2997913118 cites W2769104461 @default.
• W2997913118 cites W2771599286 @default.
• W2997913118 cites W2800713945 @default.
• W2997913118 cites W2805125328 @default.
• W2997913118 cites W2887565581 @default.
• W2997913118 cites W2887629426 @default.
• W2997913118 cites W2888260544 @default.
• W2997913118 cites W2888614790 @default.
• W2997913118 cites W2893654661 @default.
• W2997913118 cites W2897800944 @default.
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• W2997913118 cites W2913667911 @default.
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• W2997913118 doi "https://doi.org/10.1016/j.ejmg.2019.103831" @default.
• W2997913118 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31883481" @default.
• W2997913118 hasPublicationYear "2020" @default.
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