FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016600103> ?p ?o ?g. }

• W2016600103 abstract "A recent meta-analysis described a variant (p.Ile2984Val) in the cubilin gene (CUBN) that is associated with levels of albuminuria in the general population and in diabetics.We implemented a Linkage Disequilibrium (LD) search with data from the 1000 Genomes Project, on African and European population genomic sequences.We found that the p.Ile2984Val variation is part of a larger haplotype in European populations and it is almost absent in west Africans. This haplotype contains 19 single nucleotide polymorphisms (SNPs) in very high LD, three of which are missense mutations (p.Leu2153Phe, p.Ile2984Val, p.Glu3002Gly), and two have not been previously reported. Notably, this European haplotype is absent in west African populations, and the frequency of each individual polymorphism differs significantly in Africans.Genotyping of these variants in existing African origin sample sets coupled to measurements of urine albumin excretion levels should reveal which is the most likely functional candidate for albuminuria risk. The unique haplotypic structure of CUBN in different populations may leverage the effort to identify the functional variant and to shed light on evolution of the CUBN gene locus." @default.
• W2016600103 created "2016-06-24" @default.
• W2016600103 creator A5009107158 @default.
• W2016600103 creator A5039021124 @default.
• W2016600103 creator A5088711349 @default.
• W2016600103 creator A5089625707 @default.
• W2016600103 date "2012-10-31" @default.
• W2016600103 modified "2023-10-10" @default.
• W2016600103 title "Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations" @default.
• W2016600103 cites W1971948259 @default.
• W2016600103 cites W1980740976 @default.
• W2016600103 cites W2002507728 @default.
• W2016600103 cites W2019416119 @default.
• W2016600103 cites W2030803259 @default.
• W2016600103 cites W2039537505 @default.
• W2016600103 cites W2043788874 @default.
• W2016600103 cites W2051830671 @default.
• W2016600103 cites W2057221053 @default.
• W2016600103 cites W2059145105 @default.
• W2016600103 cites W2067839271 @default.
• W2016600103 cites W2076357933 @default.
• W2016600103 cites W2092768543 @default.
• W2016600103 cites W2096607633 @default.
• W2016600103 cites W2107916366 @default.
• W2016600103 cites W2108525019 @default.
• W2016600103 cites W2113488183 @default.
• W2016600103 cites W2123831918 @default.
• W2016600103 cites W2126662750 @default.
• W2016600103 cites W2129316818 @default.
• W2016600103 cites W2144516349 @default.
• W2016600103 cites W2155336724 @default.
• W2016600103 cites W2157087554 @default.
• W2016600103 cites W2161164653 @default.
• W2016600103 cites W2162530578 @default.
• W2016600103 cites W2171777347 @default.
• W2016600103 doi "https://doi.org/10.1186/1471-2369-13-142" @default.
• W2016600103 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3519576" @default.
• W2016600103 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23114252" @default.
• W2016600103 hasPublicationYear "2012" @default.
• W2016600103 type Work @default.
• W2016600103 sameAs 2016600103 @default.
• W2016600103 citedByCount "7" @default.
• W2016600103 countsByYear W20166001032014 @default.
• W2016600103 countsByYear W20166001032016 @default.
• W2016600103 countsByYear W20166001032017 @default.
• W2016600103 countsByYear W20166001032019 @default.
• W2016600103 countsByYear W20166001032020 @default.
• W2016600103 countsByYear W20166001032022 @default.
• W2016600103 crossrefType "journal-article" @default.
• W2016600103 hasAuthorship W2016600103A5009107158 @default.
• W2016600103 hasAuthorship W2016600103A5039021124 @default.
• W2016600103 hasAuthorship W2016600103A5088711349 @default.
• W2016600103 hasAuthorship W2016600103A5089625707 @default.
• W2016600103 hasBestOaLocation W20166001031 @default.
• W2016600103 hasConcept C104317684 @default.
• W2016600103 hasConcept C135763542 @default.
• W2016600103 hasConcept C153209595 @default.
• W2016600103 hasConcept C180754005 @default.
• W2016600103 hasConcept C186413461 @default.
• W2016600103 hasConcept C197754878 @default.
• W2016600103 hasConcept C2908647359 @default.
• W2016600103 hasConcept C31467283 @default.
• W2016600103 hasConcept C35605836 @default.
• W2016600103 hasConcept C501734568 @default.
• W2016600103 hasConcept C54355233 @default.
• W2016600103 hasConcept C71924100 @default.
• W2016600103 hasConcept C75563809 @default.
• W2016600103 hasConcept C84597430 @default.
• W2016600103 hasConcept C86803240 @default.
• W2016600103 hasConcept C99454951 @default.
• W2016600103 hasConceptScore W2016600103C104317684 @default.
• W2016600103 hasConceptScore W2016600103C135763542 @default.
• W2016600103 hasConceptScore W2016600103C153209595 @default.
• W2016600103 hasConceptScore W2016600103C180754005 @default.
• W2016600103 hasConceptScore W2016600103C186413461 @default.
• W2016600103 hasConceptScore W2016600103C197754878 @default.
• W2016600103 hasConceptScore W2016600103C2908647359 @default.
• W2016600103 hasConceptScore W2016600103C31467283 @default.
• W2016600103 hasConceptScore W2016600103C35605836 @default.
• W2016600103 hasConceptScore W2016600103C501734568 @default.
• W2016600103 hasConceptScore W2016600103C54355233 @default.
• W2016600103 hasConceptScore W2016600103C71924100 @default.
• W2016600103 hasConceptScore W2016600103C75563809 @default.
• W2016600103 hasConceptScore W2016600103C84597430 @default.
• W2016600103 hasConceptScore W2016600103C86803240 @default.
• W2016600103 hasConceptScore W2016600103C99454951 @default.
• W2016600103 hasIssue "1" @default.
• W2016600103 hasLocation W20166001031 @default.
• W2016600103 hasLocation W20166001032 @default.
• W2016600103 hasLocation W20166001033 @default.
• W2016600103 hasLocation W20166001034 @default.
• W2016600103 hasOpenAccess W2016600103 @default.
• W2016600103 hasPrimaryLocation W20166001031 @default.
• W2016600103 hasRelatedWork W121700474 @default.
• W2016600103 hasRelatedWork W1483645542 @default.
• W2016600103 hasRelatedWork W1551477413 @default.
• W2016600103 hasRelatedWork W1966708416 @default.
• W2016600103 hasRelatedWork W1982749768 @default.
• W2016600103 hasRelatedWork W2019989714 @default.
• W2016600103 hasRelatedWork W2050501127 @default.

• next