Výsledky vyhledávání - "Asma M. Alshammari"

Akademický článek

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

Autor: Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton

Publikováno v: EBioMedicine, Vol 48, Iss , Pp 568-580 (2019)

Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CA

Externí odkaz: https://doaj.org/article/e8c098c00c394408a8d5c2c5d49ab489

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Library preparation and MiSeq sequencing for the genotyping-by-sequencing of the Huntington disease HTT exon one trinucleotide repeat and the quantification of somatic mosaicism

Autor: Sarah A. Cumming, Graham Hamilton, David McGuinness, Pawel Herzyk, Marc Ciosi, Darren G. Monckton, Efthymia Symeonidi, Asma M. Alshammari, Julie Galbraith

Huntington disease \(HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the _HTT_ gene. Affected individuals inherit more than 40 repeats and the CAG repeat is genetically unstable in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::726d99293729470cc8f8b3049f23af10
https://doi.org/10.21203/rs.2.1581/v2

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C01 Glutamine codon usage and somatic mosaicism of the HTT cag repeat are modifiers of huntington disease severity

Autor: Blair R. Leavitt, Alexandra Durr, Peter Holmans, Davina J. Hensman Moss, Marc Ciosi, Michael Flower, Sarah J. Tabrizi, Darren G. Monckton, Seung Kwak, Raymund A.C. Roos, Alastair Maxwell, Douglas R. Langbehn, Sarah A. Cumming, Asma M. Alshammari, Lesley Jones

Publikováno v: Genetic modifiers.

Background Huntington disease (HD) is caused by the expansion of a polyglutamine encoding CAG repeat in exon 1 of the HTT gene. Affected individuals inherit ≥40 repeats and longer alleles are associated with earlier onset and higher HD severity. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b878f3be11f9401bf5fefedff669f282
https://doi.org/10.1136/jnnp-2018-ehdn.72

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