Matches in SemOpenAlex for { <https://semopenalex.org/work/W3100598802> ?p ?o ?g. }
- W3100598802 endingPage "358" @default.
- W3100598802 startingPage "347" @default.
- W3100598802 abstract "Abstract Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a dominant neurodegenerative disease caused by the expansion of a CAG repeat tract in ATXN3 . Anticipation and worsening of clinical picture in subsequent generations were repeatedly reported, but there is no indication that SCA3/MJD frequency is changing. Thus, we performed a systematic review and meta‐analysis on phenomena with potential effect on SCA3/MJD recurrency in populations: instability of CAG repeat transmissions, anticipation, fitness, and segregation of alleles. Transmission of the mutant allele was associated with an increase of 1.23 CAG repeats in the next generation, and the average change in age at onset showed an anticipation of 7.75 years per generation; but biased recruitments cannot be ruled out. Affected SCA3/MJD individuals had 45% more children than related controls. Transmissions from SCA3/MJD carriers showed that the expanded allele was segregated in 64% of their children. In contrast, transmissions from normal subjects showed that the minor allele was segregated in 54%. The present meta‐analysis concluded that there is a segregation distortion favoring the expanded allele, among children of carriers. Therefore, further studies on transmissions and anticipation phenomena as well as more observations about fertility are required to clarify these selective forces over SCA3/MJD." @default.
- W3100598802 created "2020-11-23" @default.
- W3100598802 creator A5017294567 @default.
- W3100598802 creator A5052578030 @default.
- W3100598802 creator A5067276578 @default.
- W3100598802 creator A5087897207 @default.
- W3100598802 date "2020-12-02" @default.
- W3100598802 modified "2023-10-18" @default.
- W3100598802 title "Selective forces acting on spinocerebellar ataxia type 3/ <scp>Machado–Joseph</scp> disease recurrency: A systematic review and meta‐analysis" @default.
- W3100598802 cites W1808457922 @default.
- W3100598802 cites W1856049288 @default.
- W3100598802 cites W1965142683 @default.
- W3100598802 cites W1974483110 @default.
- W3100598802 cites W1975576680 @default.
- W3100598802 cites W1977286069 @default.
- W3100598802 cites W1977339741 @default.
- W3100598802 cites W1979729701 @default.
- W3100598802 cites W1983157039 @default.
- W3100598802 cites W1990630201 @default.
- W3100598802 cites W1991446163 @default.
- W3100598802 cites W1992568176 @default.
- W3100598802 cites W1995758127 @default.
- W3100598802 cites W2013313672 @default.
- W3100598802 cites W2016788215 @default.
- W3100598802 cites W2018117244 @default.
- W3100598802 cites W2019892841 @default.
- W3100598802 cites W2022954859 @default.
- W3100598802 cites W2023095530 @default.
- W3100598802 cites W2023627547 @default.
- W3100598802 cites W2031713840 @default.
- W3100598802 cites W2033935556 @default.
- W3100598802 cites W2069927313 @default.
- W3100598802 cites W2073012734 @default.
- W3100598802 cites W2073120753 @default.
- W3100598802 cites W2086806188 @default.
- W3100598802 cites W2086858480 @default.
- W3100598802 cites W2092224813 @default.
- W3100598802 cites W2106771855 @default.
- W3100598802 cites W2110519434 @default.
- W3100598802 cites W2112434293 @default.
- W3100598802 cites W2113041268 @default.
- W3100598802 cites W2115326399 @default.
- W3100598802 cites W2115929817 @default.
- W3100598802 cites W2118415943 @default.
- W3100598802 cites W2124347540 @default.
- W3100598802 cites W2126414919 @default.
- W3100598802 cites W2127135035 @default.
- W3100598802 cites W2127706337 @default.
- W3100598802 cites W2129173843 @default.
- W3100598802 cites W2137546687 @default.
- W3100598802 cites W2153340572 @default.
- W3100598802 cites W2160114415 @default.
- W3100598802 cites W2165575517 @default.
- W3100598802 cites W2208435190 @default.
- W3100598802 cites W2588766107 @default.
- W3100598802 cites W2602648744 @default.
- W3100598802 cites W2885091136 @default.
- W3100598802 cites W2891437643 @default.
- W3100598802 cites W2897461589 @default.
- W3100598802 cites W2916248891 @default.
- W3100598802 cites W2949093462 @default.
- W3100598802 cites W2978396047 @default.
- W3100598802 cites W3012860222 @default.
- W3100598802 cites W304020150 @default.
- W3100598802 cites W3042128387 @default.
- W3100598802 cites W4238812539 @default.
- W3100598802 cites W2000492370 @default.
- W3100598802 doi "https://doi.org/10.1111/cge.13888" @default.
- W3100598802 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33219521" @default.
- W3100598802 hasPublicationYear "2020" @default.
- W3100598802 type Work @default.
- W3100598802 sameAs 3100598802 @default.
- W3100598802 citedByCount "5" @default.
- W3100598802 countsByYear W31005988022021 @default.
- W3100598802 countsByYear W31005988022022 @default.
- W3100598802 countsByYear W31005988022023 @default.
- W3100598802 crossrefType "journal-article" @default.
- W3100598802 hasAuthorship W3100598802A5017294567 @default.
- W3100598802 hasAuthorship W3100598802A5052578030 @default.
- W3100598802 hasAuthorship W3100598802A5067276578 @default.
- W3100598802 hasAuthorship W3100598802A5087897207 @default.
- W3100598802 hasConcept C104317684 @default.
- W3100598802 hasConcept C126322002 @default.
- W3100598802 hasConcept C154945302 @default.
- W3100598802 hasConcept C166252455 @default.
- W3100598802 hasConcept C169760540 @default.
- W3100598802 hasConcept C176777502 @default.
- W3100598802 hasConcept C180754005 @default.
- W3100598802 hasConcept C2777748165 @default.
- W3100598802 hasConcept C2777767895 @default.
- W3100598802 hasConcept C2779134260 @default.
- W3100598802 hasConcept C2779500118 @default.
- W3100598802 hasConcept C2780906641 @default.
- W3100598802 hasConcept C41008148 @default.
- W3100598802 hasConcept C54355233 @default.
- W3100598802 hasConcept C71924100 @default.
- W3100598802 hasConcept C86803240 @default.
- W3100598802 hasConceptScore W3100598802C104317684 @default.