FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3194226141> ?p ?o ?g. }

• W3194226141 abstract "Expression dysregulation of the neuron-specific gene, RASGEF1C (RasGEF Domain Family Member 1C), occurs in late-onset neurocognitive disorders (NCDs), such as Alzheimer's disease. This gene contains a (GGC)13, spanning its core promoter and 5' untranslated region (RASGEF1C-201 ENST00000361132.9). Here we sequenced the (GGC)-repeat in a sample of human subjects (N = 269), consisting of late-onset NCDs (N = 115) and controls (N = 154). We also studied the status of this STR across various primate and non-primate species based on Ensembl 103. The 6-repeat allele was the predominant allele in the controls (frequency = 0.85) and NCD patients (frequency = 0.78). The NCD genotype compartment consisted of an excess of genotypes that lacked the 6-repeat (divergent genotypes) (Mid-P exact = 0.004). A number of those genotypes were not detected in the control group (Mid-P exact = 0.007). The RASGEF1C (GGC)-repeat expanded beyond 2-repeats specifically in primates, and was at maximum length in human. We conclude that there is natural selection for the 6-repeat allele of the RASGEF1C (GGC)-repeat in human, and significant divergence from that allele in late-onset NCDs. STR alleles that are predominantly abundant and genotypes that deviate from those alleles are underappreciated features, which may have deep evolutionary and pathological consequences." @default.
• W3194226141 created "2021-08-30" @default.
• W3194226141 creator A5003814210 @default.
• W3194226141 creator A5022514532 @default.
• W3194226141 creator A5046602267 @default.
• W3194226141 creator A5048408736 @default.
• W3194226141 creator A5064758964 @default.
• W3194226141 creator A5083282499 @default.
• W3194226141 date "2021-09-28" @default.
• W3194226141 modified "2023-10-16" @default.
• W3194226141 title "Natural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder" @default.
• W3194226141 cites W1847168837 @default.
• W3194226141 cites W1851718497 @default.
• W3194226141 cites W1929249588 @default.
• W3194226141 cites W2005663602 @default.
• W3194226141 cites W2008854521 @default.
• W3194226141 cites W2057814054 @default.
• W3194226141 cites W2058161128 @default.
• W3194226141 cites W2063836788 @default.
• W3194226141 cites W2067203120 @default.
• W3194226141 cites W2095907724 @default.
• W3194226141 cites W2096252283 @default.
• W3194226141 cites W2097501252 @default.
• W3194226141 cites W2111277734 @default.
• W3194226141 cites W2142056327 @default.
• W3194226141 cites W2148080316 @default.
• W3194226141 cites W2167311298 @default.
• W3194226141 cites W22064310 @default.
• W3194226141 cites W2336048041 @default.
• W3194226141 cites W2624111403 @default.
• W3194226141 cites W2738291994 @default.
• W3194226141 cites W2747291949 @default.
• W3194226141 cites W2774602224 @default.
• W3194226141 cites W2786119759 @default.
• W3194226141 cites W2889666218 @default.
• W3194226141 cites W2890170013 @default.
• W3194226141 cites W2904037705 @default.
• W3194226141 cites W2963665804 @default.
• W3194226141 cites W2982599786 @default.
• W3194226141 cites W2988310263 @default.
• W3194226141 cites W2997143790 @default.
• W3194226141 cites W3001110012 @default.
• W3194226141 cites W3080885238 @default.
• W3194226141 cites W3082922150 @default.
• W3194226141 cites W3087049568 @default.
• W3194226141 cites W3093304720 @default.
• W3194226141 cites W3105920546 @default.
• W3194226141 cites W3116928997 @default.
• W3194226141 cites W3118577024 @default.
• W3194226141 cites W3122707914 @default.
• W3194226141 cites W3152765132 @default.
• W3194226141 cites W3154773490 @default.
• W3194226141 cites W3164450228 @default.
• W3194226141 cites W373145395 @default.
• W3194226141 doi "https://doi.org/10.1038/s41598-021-98725-y" @default.
• W3194226141 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8479062" @default.
• W3194226141 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34584172" @default.
• W3194226141 hasPublicationYear "2021" @default.
• W3194226141 type Work @default.
• W3194226141 sameAs 3194226141 @default.
• W3194226141 citedByCount "10" @default.
• W3194226141 countsByYear W31942261412021 @default.
• W3194226141 countsByYear W31942261412022 @default.
• W3194226141 countsByYear W31942261412023 @default.
• W3194226141 crossrefType "journal-article" @default.
• W3194226141 hasAuthorship W3194226141A5003814210 @default.
• W3194226141 hasAuthorship W3194226141A5022514532 @default.
• W3194226141 hasAuthorship W3194226141A5046602267 @default.
• W3194226141 hasAuthorship W3194226141A5048408736 @default.
• W3194226141 hasAuthorship W3194226141A5064758964 @default.
• W3194226141 hasAuthorship W3194226141A5083282499 @default.
• W3194226141 hasBestOaLocation W31942261411 @default.
• W3194226141 hasConcept C104317684 @default.
• W3194226141 hasConcept C135763542 @default.
• W3194226141 hasConcept C169760540 @default.
• W3194226141 hasConcept C169900460 @default.
• W3194226141 hasConcept C172467417 @default.
• W3194226141 hasConcept C180754005 @default.
• W3194226141 hasConcept C37463918 @default.
• W3194226141 hasConcept C54355233 @default.
• W3194226141 hasConcept C86803240 @default.
• W3194226141 hasConceptScore W3194226141C104317684 @default.
• W3194226141 hasConceptScore W3194226141C135763542 @default.
• W3194226141 hasConceptScore W3194226141C169760540 @default.
• W3194226141 hasConceptScore W3194226141C169900460 @default.
• W3194226141 hasConceptScore W3194226141C172467417 @default.
• W3194226141 hasConceptScore W3194226141C180754005 @default.
• W3194226141 hasConceptScore W3194226141C37463918 @default.
• W3194226141 hasConceptScore W3194226141C54355233 @default.
• W3194226141 hasConceptScore W3194226141C86803240 @default.
• W3194226141 hasFunder F4320325527 @default.
• W3194226141 hasIssue "1" @default.
• W3194226141 hasLocation W31942261411 @default.
• W3194226141 hasLocation W31942261412 @default.
• W3194226141 hasLocation W31942261413 @default.
• W3194226141 hasLocation W31942261414 @default.
• W3194226141 hasLocation W31942261415 @default.
• W3194226141 hasOpenAccess W3194226141 @default.
• W3194226141 hasPrimaryLocation W31942261411 @default.
• W3194226141 hasRelatedWork W2057739827 @default.

• next