Repeat expansion
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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TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases
... trinucleotide repeat polymor- phism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the risk of FECD in some ...TGC repeat polymorphism in TCF4 is associated with FECD in the ...
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Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report
... 6. Renton AE, Majounie E, Waite A, Simón-Sánchez 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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Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
... same repeat (e.g., C9-423 and C9-774 had the same repeat, but different ...‘GGCCTG’ repeat, ...C9orf72 repeat expansion locus for the affected expansion carrier were hand ...
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C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+ permeable AMPA receptor mediated excitotoxicity
... C9ORF72 repeat expansion might be pathogenic: loss of, as yet still unknown, normal C9ORF72 function, sequestration of RNA binding pro- teins by RNA foci, and direct toxicity mediated by DPRs 25 ...
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Myotonic Dystrophy: Accurately Scoring the Boundaries that Define Regions of Triplet Repeat Expansion Mutations
... Myotonic Dystrophy type 1 (DM1) is an autosomal dominant neuromuscular multi- systemic disorder affecting the skeletal muscles, heart, brain, eyes and endocrine system [1-3]. DM1 is the most common adult muscular ...
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Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection
... PCR are indicated below in italics. Two PCR alleles in the normal range are designated N. Individual A is clinically unaffected but show both RED and PCR expansions. Individuals marked B[r] ...
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Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers
... a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains ...This expansion, which represents the most common genetic cause of frontotemporal lobar degeneration (FTLD) and motor ...
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The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
... hexanucleotide repeat expansions of C9ORF72 is that the associated phe- notype is extremely variable and indeed, except in certain pedigrees, the expansion does not appear to be 100 % penetrant ...) ...
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Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
... hexanucleotide repeat expansion (HRE) is currently one of the most prevalent and penetrant cause of ...the repeat length above 30, 2 many aspects of C9orf72-related ALS have not been thoroughly ...
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ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion
... C9ORF72 repeat expansion carriers; has received research support from the NIH, the ALS Association, and the Mus- cular Dystrophy Association; and receives license fee payments for C9ORF72 repeat ...
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Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1
... Experimental evidence has identified a role for the MMR pathway in both germline and somatic instability. The canonical role of MMR is to repair mismatched base pairs and extra-helical insertion and deletion loops. ...
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Frontotemporal dementia and amyotrophic lateral sclerosis proteins in neurite health and dysfunction
... the repeat expansion of the hexanucleotide sequence, GGGGCC, in the C9orf72 gene, was found to be the most common cause of familial ALS (37%) and FTD (21%), as well as being associated with sporadic ALS ...
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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
... hexanucleotide repeat expansion in the non-coding region of the C9orf72 ...the repeat is translated into aggregating dipeptide-repeat (DPR) ...
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SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
... polymorphic repeat expansions, composed of hundreds to thousands of the GGGGCC hexanucleotide-repeat sequence (hereafter abbreviated G4C2) in the first intron of the C9ORF72 gene, with autosomal dominant ...
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RNA biology of disease-associated microsatellite repeat expansions
... the repeat. It has been shown that transcription is required for expansion of the CGG repeat in a mouse model of FXS [2, ...at repeat expan- sions is associated with repeat instability, ...
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Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia
... asthma, celiac disease, juvenile-onset diabetes, multiple sclero- sis (MS), myasthenia gravis, systemic lupus erythematosus, and ulcerative colitis, supporting that autoimmune diseases and ALS might share common genetic ...
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Lehmer, Carina (2018): Molecular mechanisms and biomarkers of familial FTD/ALS. Dissertation, LMU München: Medizinische Fakultät
... Repeat associated non-AUG translation was first discovered for CAG repeats in spinocerebellar ataxia type 8 (SCA8) and Myotonic dystrophy type 2 (DM2), and has since been reported in other repeat ...
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"CLINICAL ASPECTS OF CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINE'S CURSE): A REVIEW" " by Raghvendra*, Satyanand Tyagi, Pramod Yadav, Sunanda Saxena, Rajesh A. Dodia, Tanvi D. Patel, India.
... polyalanine repeat expansion in the second polyalanine repeat sequence in exon 3 of ...polyalanine repeat expansion mutation has been associated with decreased transcription of these ...
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... CAG repeat expansion in both alleles of the AR gene; however, it could not identify the number of CAG ...repeats expansion in exon 1 of the AR ...
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