FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2030773538> ?p ?o ?g. }

• W2030773538 endingPage "e1153" @default.
• W2030773538 startingPage "e1148" @default.
• W2030773538 abstract "BackgroundThe importance of the C-C chemokine receptor type 5 (CCR5) in HIV infection and disease progression was recognized with the discovery of the Δ32 allele. Individuals homozygous for this mutation lack functional CCR5, and are almost completely resistant to HIV infection. Heterozygous individuals display decreased cell surface CCR5, which slows disease progression. Phenotypic expression of CCR5 is heterogeneous and its relation to genetic mutations in the CCR5 gene is not currently known for the South African population. This provided the rationale for investigating genetic variation in low CCR5 expressers in South Africa.MethodsFlow cytometry was used to measure the phenotypic distribution of CCR5 in 245 individuals by assessing both the percentage of CD4 + CCR5+ T-cells and CCR5 density.ResultsGenotypic data revealed 70 single nucleotide polymorphisms (SNPs), four insertions, and the Δ32 deletion within the 65 individuals selected for sequencing. The Δ32 mutation was detected only in the Caucasian group and included a single homozygous individual with an absence of CCR5 expression. A total of eight previously described open reading frame (ORF) mutations were found in this study, as well as 12 novel mutations with two in the ORF. Greater genetic diversity was present in the black South African group, with 39 mutations being exclusive to this group.ConclusionsUsing a unique approach to genotype in individuals with lower CCR5 expression we have identified novel SNPs which could affect HIV infection. The importance of the C-C chemokine receptor type 5 (CCR5) in HIV infection and disease progression was recognized with the discovery of the Δ32 allele. Individuals homozygous for this mutation lack functional CCR5, and are almost completely resistant to HIV infection. Heterozygous individuals display decreased cell surface CCR5, which slows disease progression. Phenotypic expression of CCR5 is heterogeneous and its relation to genetic mutations in the CCR5 gene is not currently known for the South African population. This provided the rationale for investigating genetic variation in low CCR5 expressers in South Africa. Flow cytometry was used to measure the phenotypic distribution of CCR5 in 245 individuals by assessing both the percentage of CD4 + CCR5+ T-cells and CCR5 density. Genotypic data revealed 70 single nucleotide polymorphisms (SNPs), four insertions, and the Δ32 deletion within the 65 individuals selected for sequencing. The Δ32 mutation was detected only in the Caucasian group and included a single homozygous individual with an absence of CCR5 expression. A total of eight previously described open reading frame (ORF) mutations were found in this study, as well as 12 novel mutations with two in the ORF. Greater genetic diversity was present in the black South African group, with 39 mutations being exclusive to this group. Using a unique approach to genotype in individuals with lower CCR5 expression we have identified novel SNPs which could affect HIV infection." @default.
• W2030773538 created "2016-06-24" @default.
• W2030773538 creator A5010874845 @default.
• W2030773538 creator A5038222662 @default.
• W2030773538 creator A5084780252 @default.
• W2030773538 date "2013-12-01" @default.
• W2030773538 modified "2023-09-27" @default.
• W2030773538 title "Mutations in C-C chemokine receptor type 5 (CCR5) in South African individuals" @default.
• W2030773538 cites W1544916621 @default.
• W2030773538 cites W1996024432 @default.
• W2030773538 cites W1996634009 @default.
• W2030773538 cites W2026444780 @default.
• W2030773538 cites W2035813371 @default.
• W2030773538 cites W2038048329 @default.
• W2030773538 cites W2043842774 @default.
• W2030773538 cites W2049777459 @default.
• W2030773538 cites W2081091454 @default.
• W2030773538 cites W2105588585 @default.
• W2030773538 cites W2124058652 @default.
• W2030773538 cites W2126255146 @default.
• W2030773538 cites W2127492558 @default.
• W2030773538 cites W2133021844 @default.
• W2030773538 cites W2135904934 @default.
• W2030773538 cites W2140472965 @default.
• W2030773538 cites W2141489451 @default.
• W2030773538 cites W2142169759 @default.
• W2030773538 cites W2156117117 @default.
• W2030773538 cites W2169902298 @default.
• W2030773538 doi "https://doi.org/10.1016/j.ijid.2013.06.009" @default.
• W2030773538 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23911155" @default.
• W2030773538 hasPublicationYear "2013" @default.
• W2030773538 type Work @default.
• W2030773538 sameAs 2030773538 @default.
• W2030773538 citedByCount "11" @default.
• W2030773538 countsByYear W20307735382014 @default.
• W2030773538 countsByYear W20307735382015 @default.
• W2030773538 countsByYear W20307735382016 @default.
• W2030773538 countsByYear W20307735382018 @default.
• W2030773538 countsByYear W20307735382019 @default.
• W2030773538 countsByYear W20307735382020 @default.
• W2030773538 countsByYear W20307735382022 @default.
• W2030773538 countsByYear W20307735382023 @default.
• W2030773538 crossrefType "journal-article" @default.
• W2030773538 hasAuthorship W2030773538A5010874845 @default.
• W2030773538 hasAuthorship W2030773538A5038222662 @default.
• W2030773538 hasAuthorship W2030773538A5084780252 @default.
• W2030773538 hasBestOaLocation W20307735381 @default.
• W2030773538 hasConcept C104317684 @default.
• W2030773538 hasConcept C127716648 @default.
• W2030773538 hasConcept C12823836 @default.
• W2030773538 hasConcept C13373296 @default.
• W2030773538 hasConcept C135763542 @default.
• W2030773538 hasConcept C153209595 @default.
• W2030773538 hasConcept C170493617 @default.
• W2030773538 hasConcept C180754005 @default.
• W2030773538 hasConcept C2908647359 @default.
• W2030773538 hasConcept C45635710 @default.
• W2030773538 hasConcept C501734568 @default.
• W2030773538 hasConcept C54355233 @default.
• W2030773538 hasConcept C71924100 @default.
• W2030773538 hasConcept C86803240 @default.
• W2030773538 hasConcept C99454951 @default.
• W2030773538 hasConceptScore W2030773538C104317684 @default.
• W2030773538 hasConceptScore W2030773538C127716648 @default.
• W2030773538 hasConceptScore W2030773538C12823836 @default.
• W2030773538 hasConceptScore W2030773538C13373296 @default.
• W2030773538 hasConceptScore W2030773538C135763542 @default.
• W2030773538 hasConceptScore W2030773538C153209595 @default.
• W2030773538 hasConceptScore W2030773538C170493617 @default.
• W2030773538 hasConceptScore W2030773538C180754005 @default.
• W2030773538 hasConceptScore W2030773538C2908647359 @default.
• W2030773538 hasConceptScore W2030773538C45635710 @default.
• W2030773538 hasConceptScore W2030773538C501734568 @default.
• W2030773538 hasConceptScore W2030773538C54355233 @default.
• W2030773538 hasConceptScore W2030773538C71924100 @default.
• W2030773538 hasConceptScore W2030773538C86803240 @default.
• W2030773538 hasConceptScore W2030773538C99454951 @default.
• W2030773538 hasIssue "12" @default.
• W2030773538 hasLocation W20307735381 @default.
• W2030773538 hasLocation W20307735382 @default.
• W2030773538 hasLocation W20307735383 @default.
• W2030773538 hasOpenAccess W2030773538 @default.
• W2030773538 hasPrimaryLocation W20307735381 @default.
• W2030773538 hasRelatedWork W1935916792 @default.
• W2030773538 hasRelatedWork W1999048688 @default.
• W2030773538 hasRelatedWork W2013166796 @default.
• W2030773538 hasRelatedWork W2034211922 @default.
• W2030773538 hasRelatedWork W2044992835 @default.
• W2030773538 hasRelatedWork W2057739827 @default.
• W2030773538 hasRelatedWork W2076222963 @default.
• W2030773538 hasRelatedWork W2223919059 @default.
• W2030773538 hasRelatedWork W2397966603 @default.
• W2030773538 hasRelatedWork W7032323 @default.
• W2030773538 hasVolume "17" @default.
• W2030773538 isParatext "false" @default.
• W2030773538 isRetracted "false" @default.
• W2030773538 magId "2030773538" @default.
• W2030773538 workType "article" @default.