[HTML][HTML] Approaches to sequence the HTT CAG repeat expansion and quantify repeat length variation

M Ciosi, SA Cumming, A Chatzi… - Journal of …, 2021 - content.iospress.com
Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative
disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit≥ 36 …

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

M Ciosi, SA Cumming, AM Alshammari, E Symeonidi… - 2018 - eprints.gla.ac.uk
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 …

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

A Shin, B Shin, JW Shin, KH Kim… - Human Molecular …, 2017 - academic.oup.com
Huntington's disease (HD) reflects dominant consequences of a CAG repeat expansion
mutation in HTT. Expanded CAG repeat size is the primary determinant of age at onset and …

[HTML][HTML] CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup

SC Warby, A Montpetit, AR Hayden, JB Carroll… - The American Journal of …, 2009 - cell.com
Huntington disease (HD) is an autosomal-dominant disorder that results from≥ 36 CAG
repeats in the HD gene (HTT). Approximately 10% of patients inherit a chromosome that …

Inherited CAG· CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

NJ Veitch, M Ennis, JP McAbney, US The… - DNA repair, 2007 - Elsevier
Huntington disease (HD) is associated with an unstable trinucleotide CAG· CTG repeat
expansion. Although the repeat length is inversely correlated with the age-at-onset of …

[HTML][HTML] Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype

A Ruiz de Sabando, M Ciosi, A Galbete… - European Journal of …, 2024 - nature.com
Huntington disease (HD) is a neurodegenerative disorder caused by≥ 36 CAGs in the HTT
gene. Intermediate alleles (IAs)(27–35 CAGs) are not considered HD-causing, but their …

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease

NA Aziz, MJ van Belzen, ID Coops… - European journal of …, 2011 - Elsevier
Background Huntington's disease (HD) is a progressive autosomal dominant
neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). The …

Single-step scalable-throughput molecular screening for Huntington disease

CRL Teo, W Wang, H Yang Law, CG Lee… - Clinical …, 2008 - academic.oup.com
Background: Huntington disease (HD) is a fatal autosomal dominant neurodegenerative
disorder caused by an unstable expansion of the CAG trinucleotide repeat in exon 1 of the …

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

M Swami, AE Hendricks, T Gillis… - Human molecular …, 2009 - academic.oup.com
The age of onset of Huntington's disease (HD) is determined primarily by the length of the
HD CAG repeat mutation, but is also influenced by other modifying factors. Delineating these …

[HTML][HTML] A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT)

A De Luca, A Morella, F Consoli, S Fanelli… - International Journal of …, 2021 - mdpi.com
The expanded CAG repeat number in HTT gene causes Huntington disease (HD), which is
a severe, dominant neurodegenerative illness. The accurate determination of the expanded …