Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. This is of note since the bisulfite sequencing assay can only obtain information from a single strand after bisulfite conversion the DNA double strands are no longer complementary to each other. This work was supported by the W. New articles by this author. Epub Aug 1. All non-CpG cytosine indicated by blue squares were successfully converted to thymine.
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The C9orf72 G 4 C 2 -repeat was genotyped by a two-step strategy as previously described The independent samples t -test or the non-parametric Mann—Whitney U test was used to compare continuous variables between two groups as appropriate.
Dr. Zhengrui Xi
Discovery of the hexanucleotide G 4 C 2- repeat expansion up to several thousand repeats within the non-coding region of C9orf72 MIM as the most common known cause of both ALS and FTLD provides additional evidence of shared pathological mechanisms 8 — The direct bisulfite sequencing results were further confirmed by the methylation sensitive HhaI-assay developed previously Repeat-induced epigenetic changes in intron xhengrui of the frataxin gene and its consequences in Friedreich ataxia.
Pathological expansions were defined using the previously suggested repeat cutoff zhngrui9. It is also likely that all three mechanisms contribute to the diverse phenotypes to a variable extent. Our recent ALS study further supports the loss-of-function model to be one of the disease mechanisms.
Mov Disord 01 7;32 1: Neurosci Lett Oct 14; Of zhengruu, samples from all 5 FTLD patients carrying an intermediate allele 22—31 repeats were completely unmethylated. Brain Sep 31; Pt 9: In agreement with the pathological impact of reduced C9orf72 expression, down-regulation of the zebrafish C9orf72 orthologue led to altered motor neuron axon morphology and locomotor deficits rescued upon overexpression of human C9orf72 Identical twins with the C9orf72 repeat expansion are discordant zhenyrui ALS.
Am J Hum Genet Jun 21;96 6: Mutation analysis of C9orf72 zhenggrui patients with corticobasal syndrome. Anal Chem Jun;78 Epub Feb Moreover, the global methylation pattern of DNA and histone modifications are known to change with aging 40 and thus could be linked to the mid-adulthood onset of disease. Epub Sep It is critical to understand whether expansion with different sizes have the same pathological consequence, however even the lower limit of repeat number for pathological expansions has not been determined.
New articles by this author.
Zhengrui Xi – Semantic Scholar
Articles Cited by Co-authors. Neurobiol Aging Oct 12;36 Hypermethylation of CpG-islands at the promoter region could lead to gene expression silencing reported for other repeat expansion diseases such as Friedreich’s ataxia MIM 16 — 18Fragile X syndrome MIM 19 — 21 and myotonic dystrophy MIM 22 — Receive exclusive offers and updates from Oxford Academic.
Spearman’s correlation coefficients were zhengriu to measure the correlation between independent variables: This work was supported by the W. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide.
Schizophr Res Feb 1;90 A representative znengrui sequence chromatogram is shown in Supplementary Data. Such a possibility is in agreement with a Southern blot study of 60 expansion carriers, which showed that despite a substantial overlap in repeat length in peripheral blood, ALS patients had a higher repeat number than FTLD patients In addition, we identified four carriers of an intermediate allele 22, 23, 28 and 30 repeats. Motor neuron disease and frontotemporal dementia: Methylation degree was known to increase with the number of GAA-repeats in Friedreich’s ataxia Epub Nov 7.