Hexanucleotide repeat
Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
... C9orf72 hexanucleotide repeats across all sections of the same spinal cord were ...C9orf72 hexanucleotide repeats are stable when in the normal range 10 and that if instability does occur, it is restricted ...
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Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case control sample
... Restagno, G., Nicolaou, N., Simon-Sanchez, J., van Swieten, J.C., Abramzon, Y., Johnson, J.O., Sendtner, M., Pamphlett, R., Orrell, R.W., Mead, S., Sidle, K.C., Houlden, H., Rohrer, J.D., Morrison, K.E., Pall, H., ...
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Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report
... 5. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind ...
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TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
... 28. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding ...
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Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioral deficits.
... RNA FISH was performed as described previously (Cooper-Knock et al., 2014) with a few modifications. Briefly, a 5’ TYE-563-labelled LNA (16-mer fluorescent)-incorporated DNA probe was used against the sense RNA ...
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Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD
... pre-mRNAs stalled during the splicing process, splice- defective lariat intermediates or aborted transcripts [19, 40]. Here we demonstrate that intron 1-containing C9orf72 RNA that accumulates in the brain from expan- ...
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Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci
... Pathogenic repeat expansions were observed in 47% of the famil- ial cases and ...C9orf72 repeat expansions were observed at a similar frequency (6/86; ...actual repeat expan- sion size in cases with ...
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Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat length dependent neuropathology and behavioural deficits
... GGGGCC repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia ...the hexanucleotide RNA expansions (HREs) have been identified in ...
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Frontotemporal dementia and amyotrophic lateral sclerosis proteins in neurite health and dysfunction
... A number of proteins have been identified which are pathologically and/or genetically associated with both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). A hexanucleotide repeat ...
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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion
... a hexanucleotide repeat expansion in a noncoding region of the chromosome 9 open reading frame 72 (C9ORF72) gene as a common cause of FTD/ALS, familial FTD, and familial ALS marks the culmination of many ...
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Factors That Mediate Expression Of Unique Ggggcc Repeat Expansions In C9orf72-Associated Als/ftd.
... underlying repeat-associated non-AUG (RAN-) translation remain unclear despite evidence that this form of translation occurs in disease (Kearse and Wilusz, 2017; Zu et ...GGGGCC hexanucleotide repeat ...
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Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
... pathogenic hexanucleotide repeat in the C9orf2 gene, which has recently been identified as a common patho- genic mutation in families with autosomal dominant frontotemporal dementia (FTD) and amyotrophic ...
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SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
... C9ORF72 repeat transcripts, we measured the total and cytoplasmic levels of G4C2x38 transcripts in the presence of Ctrl or SRSF1-RNAi and SRSF1 or SRSF1-m4 in transfected N2A ...Cytoplasmic repeat ...
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The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
... a hexanucleotide repeat expan- sion in C9orf72 is the most numerous genetic variant of both amyotrophic lateral sclerosis and frontotemporal dementia has opened a rapidly growing field, which may provide ...
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Schludi, Martin Haribert (2018): Analysis of the C9orf72 dipeptide-repeat proteins and characterization of a poly-GA mouse model. Dissertation, LMU München: Medizinische Fakultät
... GGGGCC hexanucleotide repeat expansion in the non-coding region of the C9orf72 ...the repeat is translated into aggregating dipeptide-repeat (DPR) ...
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Preventing repeat and near repeat crime concentrations
... With the widespread use of the Internet, e-commerce, business and other networks, the security of such networks is increasingly important. Yet attacks and incidents against networks are increasingly common. Potential ...
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T1BT* structural study of an anti plasmodial peptide through NMR and molecular dynamics
... the repeat region in CSP forms a stem-like ...NPNA repeat should show higher efficiency as a pre-erythrocyte vaccine that would prevent infection of hepatocytes by ...
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Repeat Chlamydia Diagnoses Increase the Hazard of Pelvic Inflammatory Disease among U S Army females:A Retrospective Cohort Analysis
... Cumulative incidence rates and hazard ratios for pelvic inflammatory disease by the number of repeat chlamydia diagnoses... Women without repeat diagnosis Women with one repeat diagnosis[r] ...
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DNA SEQUENCING OF CAG REPEAT OF ANDROGEN RECEPTOR GENE OF PROSTATE CANCER PATIENTS IN THE SOUTH OF IRAQ
... 24. Bennett, C.L., Price, D.K., Kim, S., Liu, D., Jovanovic, B.D., Nathan, D., Johnson, M. E., Montgomery, J.S., Cude, K., Brockbank J.C., Sartor, O. and Figg, W.D. (2002). Rac ial Variation in CAG Repeat Lengths ...
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Regulation of Human Papillomavirus Type 31 Polyadenylation during the Differentiation-Dependent Life Cycle
... HPV-31 transcripts using the early polyadenylation signal contain heterogeneous 3 ⴕ ends which are maintained during differentiation. To investigate how polyadenylation of HPV-31 transcripts is regulated during the ...
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