Matches in SemOpenAlex for { <https://semopenalex.org/work/W4383896369> ?p ?o ?g. }
- W4383896369 abstract "Abstract Background The second world's most extensive cluster of patients affected with Huntington’s disease (HD), a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin ( HTT) gene, inhabits Juan de Acosta, a city located on the Caribbean coast of Colombia. This group represents the second most extensive pedigree clustering HD in the world. Methods We included 291 descendants of families living in Juan de Acosta, Colombia, who had at least one member with HD. Blood samples were obtained, and genomic DNA was extracted. The HTT CAG expansion was quantified using an amplicon sequencing protocol. Statistical and bioinformatic analyses were conducted using several modules implemented in R. Statistical threshold significance was set at P < 0.05. Results A total of 33 HD patients were analyzed, and a mean of 21.91 HTT CAG repeats with a standard deviation of 8.92 copies was obtained. The most affected individuals were adults, and the most common primary and secondary alleles were 17/7 and 17/10, respectively. Mosaicism increased with age in participants with HD, and slippage analyses revealed differences by HD allele type for the secondary allele, but no significant differences were observed by sex. Slippage tended to increase with the number of CAG repeats in participants with HD, but the increase was not statistically significant. The most common haplotype was 17/7_17/10. Conclusion This study analyzed the genetic and molecular features of HD by examining 291 participants, including 33 with HD. Mosaicism was found to increase with age in subjects with HD, particularly for the secondary allele; the most common haplotype was 17/7_17/10. Slippage for the secondary allele varied by HD allele type, but no significant difference in slippage was observed by sex. The findings offer valuable insights into the disease and could have implications for future research and clinical management." @default.
- W4383896369 created "2023-07-12" @default.
- W4383896369 creator A5007690279 @default.
- W4383896369 creator A5008488452 @default.
- W4383896369 creator A5012716754 @default.
- W4383896369 creator A5014800820 @default.
- W4383896369 creator A5015795264 @default.
- W4383896369 creator A5018176619 @default.
- W4383896369 creator A5019200964 @default.
- W4383896369 creator A5023927413 @default.
- W4383896369 creator A5031714346 @default.
- W4383896369 creator A5035576100 @default.
- W4383896369 creator A5042874057 @default.
- W4383896369 creator A5066384795 @default.
- W4383896369 creator A5069789228 @default.
- W4383896369 creator A5078230181 @default.
- W4383896369 creator A5092445765 @default.
- W4383896369 date "2023-07-11" @default.
- W4383896369 modified "2023-10-02" @default.
- W4383896369 title "Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia" @default.
- W4383896369 cites W1503169263 @default.
- W4383896369 cites W1987484286 @default.
- W4383896369 cites W1995008214 @default.
- W4383896369 cites W2036793690 @default.
- W4383896369 cites W2037263377 @default.
- W4383896369 cites W2045536918 @default.
- W4383896369 cites W2063702351 @default.
- W4383896369 cites W2069003975 @default.
- W4383896369 cites W2083104453 @default.
- W4383896369 cites W2084589121 @default.
- W4383896369 cites W2087157508 @default.
- W4383896369 cites W2110755408 @default.
- W4383896369 cites W2119479641 @default.
- W4383896369 cites W2121642311 @default.
- W4383896369 cites W2165722876 @default.
- W4383896369 cites W2166057591 @default.
- W4383896369 cites W2492952068 @default.
- W4383896369 cites W2803688549 @default.
- W4383896369 cites W2883949071 @default.
- W4383896369 cites W2974914837 @default.
- W4383896369 cites W3005712737 @default.
- W4383896369 cites W3116245514 @default.
- W4383896369 cites W3178574971 @default.
- W4383896369 cites W4229880569 @default.
- W4383896369 cites W4285797280 @default.
- W4383896369 cites W4296933316 @default.
- W4383896369 doi "https://doi.org/10.21203/rs.3.rs-3139939/v1" @default.
- W4383896369 hasPublicationYear "2023" @default.
- W4383896369 type Work @default.
- W4383896369 citedByCount "0" @default.
- W4383896369 crossrefType "posted-content" @default.
- W4383896369 hasAuthorship W4383896369A5007690279 @default.
- W4383896369 hasAuthorship W4383896369A5008488452 @default.
- W4383896369 hasAuthorship W4383896369A5012716754 @default.
- W4383896369 hasAuthorship W4383896369A5014800820 @default.
- W4383896369 hasAuthorship W4383896369A5015795264 @default.
- W4383896369 hasAuthorship W4383896369A5018176619 @default.
- W4383896369 hasAuthorship W4383896369A5019200964 @default.
- W4383896369 hasAuthorship W4383896369A5023927413 @default.
- W4383896369 hasAuthorship W4383896369A5031714346 @default.
- W4383896369 hasAuthorship W4383896369A5035576100 @default.
- W4383896369 hasAuthorship W4383896369A5042874057 @default.
- W4383896369 hasAuthorship W4383896369A5066384795 @default.
- W4383896369 hasAuthorship W4383896369A5069789228 @default.
- W4383896369 hasAuthorship W4383896369A5078230181 @default.
- W4383896369 hasAuthorship W4383896369A5092445765 @default.
- W4383896369 hasBestOaLocation W43838963691 @default.
- W4383896369 hasConcept C104317684 @default.
- W4383896369 hasConcept C126322002 @default.
- W4383896369 hasConcept C166252455 @default.
- W4383896369 hasConcept C180754005 @default.
- W4383896369 hasConcept C197754878 @default.
- W4383896369 hasConcept C2779134260 @default.
- W4383896369 hasConcept C2780647506 @default.
- W4383896369 hasConcept C2781427258 @default.
- W4383896369 hasConcept C49105822 @default.
- W4383896369 hasConcept C54355233 @default.
- W4383896369 hasConcept C61320498 @default.
- W4383896369 hasConcept C71924100 @default.
- W4383896369 hasConcept C8185291 @default.
- W4383896369 hasConcept C86803240 @default.
- W4383896369 hasConceptScore W4383896369C104317684 @default.
- W4383896369 hasConceptScore W4383896369C126322002 @default.
- W4383896369 hasConceptScore W4383896369C166252455 @default.
- W4383896369 hasConceptScore W4383896369C180754005 @default.
- W4383896369 hasConceptScore W4383896369C197754878 @default.
- W4383896369 hasConceptScore W4383896369C2779134260 @default.
- W4383896369 hasConceptScore W4383896369C2780647506 @default.
- W4383896369 hasConceptScore W4383896369C2781427258 @default.
- W4383896369 hasConceptScore W4383896369C49105822 @default.
- W4383896369 hasConceptScore W4383896369C54355233 @default.
- W4383896369 hasConceptScore W4383896369C61320498 @default.
- W4383896369 hasConceptScore W4383896369C71924100 @default.
- W4383896369 hasConceptScore W4383896369C8185291 @default.
- W4383896369 hasConceptScore W4383896369C86803240 @default.
- W4383896369 hasLocation W43838963691 @default.
- W4383896369 hasOpenAccess W4383896369 @default.
- W4383896369 hasPrimaryLocation W43838963691 @default.
- W4383896369 hasRelatedWork W1649344896 @default.
- W4383896369 hasRelatedWork W2022961438 @default.