FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990298974> ?p ?o ?g. }

• W1990298974 endingPage "E1824" @default.
• W1990298974 startingPage "E1811" @default.
• W1990298974 abstract "Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9(proprotein convertase subtilisin-kexin type 9). Through the French ADH Research Network, we collected molecular data from 1358 French probands from eleven different regions in France.Mutations in the LDLR gene were identified in 1003 subjects representing 391 unique events with 46.0% missense, 14.6% frameshift, 13.6% splice, and 11.3% nonsense mutations, 9.7% major rearrangements, 3.8% small in frame deletions/insertions, and 1.0% UTR mutations. Interestingly,175 are novel mutational events and represent 45% of the unique events we identified, highlighting a specificity of the LDLR mutation spectrum in France. Furthermore, mutations in the APOB gene were identified in 89 probands and in the PCSK9 gene in 10 probands. Comparison of available clinical and biochemical data showed a gradient of severity for ADH-causing mutations:FH=PCSK9>FDB>«Others» genes. The respective contribution of each known gene to ADH inthis French cohort is: LDLR 73.9%, APOB 6.6%, PCSK9 0.7%. Finally, in 19.0% of the probands,no mutation was found, thus underscoring the existence of ADH mutations located in still unknown genes." @default.
• W1990298974 created "2016-06-24" @default.
• W1990298974 creator A5007929403 @default.
• W1990298974 creator A5021817309 @default.
• W1990298974 creator A5029002217 @default.
• W1990298974 creator A5036128328 @default.
• W1990298974 creator A5044664730 @default.
• W1990298974 creator A5046477678 @default.
• W1990298974 creator A5047514616 @default.
• W1990298974 creator A5048607035 @default.
• W1990298974 creator A5055519983 @default.
• W1990298974 creator A5056986606 @default.
• W1990298974 creator A5074745163 @default.
• W1990298974 creator A5087869096 @default.
• W1990298974 creator A5088566081 @default.
• W1990298974 creator A5091133941 @default.
• W1990298974 date "2010-08-31" @default.
• W1990298974 modified "2023-10-14" @default.
• W1990298974 title "Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France" @default.
• W1990298974 cites W1549703942 @default.
• W1990298974 cites W1559146544 @default.
• W1990298974 cites W1868667409 @default.
• W1990298974 cites W1976146353 @default.
• W1990298974 cites W1977761476 @default.
• W1990298974 cites W1980449471 @default.
• W1990298974 cites W1983638598 @default.
• W1990298974 cites W1998998767 @default.
• W1990298974 cites W1999050186 @default.
• W1990298974 cites W2028342318 @default.
• W1990298974 cites W2040612932 @default.
• W1990298974 cites W2049718801 @default.
• W1990298974 cites W2057394745 @default.
• W1990298974 cites W2057968913 @default.
• W1990298974 cites W2060843080 @default.
• W1990298974 cites W2069105141 @default.
• W1990298974 cites W2076695593 @default.
• W1990298974 cites W2080346424 @default.
• W1990298974 cites W2082002745 @default.
• W1990298974 cites W2090763964 @default.
• W1990298974 cites W2110055156 @default.
• W1990298974 cites W2110078010 @default.
• W1990298974 cites W2142802148 @default.
• W1990298974 cites W2151675684 @default.
• W1990298974 cites W2158340752 @default.
• W1990298974 cites W2159181531 @default.
• W1990298974 cites W2161694710 @default.
• W1990298974 cites W2288696939 @default.
• W1990298974 doi "https://doi.org/10.1002/humu.21348" @default.
• W1990298974 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3152176" @default.
• W1990298974 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20809525" @default.
• W1990298974 hasPublicationYear "2010" @default.
• W1990298974 type Work @default.
• W1990298974 sameAs 1990298974 @default.
• W1990298974 citedByCount "98" @default.
• W1990298974 countsByYear W19902989742012 @default.
• W1990298974 countsByYear W19902989742013 @default.
• W1990298974 countsByYear W19902989742014 @default.
• W1990298974 countsByYear W19902989742015 @default.
• W1990298974 countsByYear W19902989742016 @default.
• W1990298974 countsByYear W19902989742017 @default.
• W1990298974 countsByYear W19902989742018 @default.
• W1990298974 countsByYear W19902989742019 @default.
• W1990298974 countsByYear W19902989742020 @default.
• W1990298974 countsByYear W19902989742021 @default.
• W1990298974 countsByYear W19902989742022 @default.
• W1990298974 countsByYear W19902989742023 @default.
• W1990298974 crossrefType "journal-article" @default.
• W1990298974 hasAuthorship W1990298974A5007929403 @default.
• W1990298974 hasAuthorship W1990298974A5021817309 @default.
• W1990298974 hasAuthorship W1990298974A5029002217 @default.
• W1990298974 hasAuthorship W1990298974A5036128328 @default.
• W1990298974 hasAuthorship W1990298974A5044664730 @default.
• W1990298974 hasAuthorship W1990298974A5046477678 @default.
• W1990298974 hasAuthorship W1990298974A5047514616 @default.
• W1990298974 hasAuthorship W1990298974A5048607035 @default.
• W1990298974 hasAuthorship W1990298974A5055519983 @default.
• W1990298974 hasAuthorship W1990298974A5056986606 @default.
• W1990298974 hasAuthorship W1990298974A5074745163 @default.
• W1990298974 hasAuthorship W1990298974A5087869096 @default.
• W1990298974 hasAuthorship W1990298974A5088566081 @default.
• W1990298974 hasAuthorship W1990298974A5091133941 @default.
• W1990298974 hasBestOaLocation W19902989741 @default.
• W1990298974 hasConcept C104317684 @default.
• W1990298974 hasConcept C134018914 @default.
• W1990298974 hasConcept C188997412 @default.
• W1990298974 hasConcept C2778163477 @default.
• W1990298974 hasConcept C2778849439 @default.
• W1990298974 hasConcept C2779120738 @default.
• W1990298974 hasConcept C2780072125 @default.
• W1990298974 hasConcept C2780948078 @default.
• W1990298974 hasConcept C29906990 @default.
• W1990298974 hasConcept C43554185 @default.
• W1990298974 hasConcept C501734568 @default.
• W1990298974 hasConcept C54355233 @default.
• W1990298974 hasConcept C62746215 @default.
• W1990298974 hasConcept C75563809 @default.
• W1990298974 hasConcept C86803240 @default.
• W1990298974 hasConcept C96777560 @default.

• next