[PDF] Top 20 La Unión Europea en las Relaciones Internacionales
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RNA biology of disease-associated microsatellite repeat expansions
... CUG repeat expansions, the DMPK mRNA has been shown to localize peri-transcriptionally outside of SC-35 splicing speckles ...[274]. RNA containing CAG, CUG and GGGGCC repeats were also shown to ... See full document
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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 ...hexanucleotide repeat ... See full document
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Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene
... N-terminal RNA recognition sites followed by a C-terminal glycine rich region ...different disease or control states suggesting that this lack of con- sistent stainability may represent a technical, rather ... See full document
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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 ...hexanucleotide RNA expansions (HREs) have been ... See full document
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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
... toxic RNA foci could like- wise render cells vulnerable [6,21,23,58], though against this are observations that such a process, like DPR for- mation, is disseminated widely throughout the brain, and not solely ... See full document
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... the disease, familial ALS (FALS), with a common SOD1 mutation, also present in ...hexanucleotide repeat expansions in C9ORF72 gene were found to comprise the largest fraction of ALS- and FTD-causing ... See full document
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Creation of a Chloroplast Microsatellite Reporter for Detection of Replication Slippage in Chlamydomonas reinhardtii
... the microsatellite region yielded two types of size variants from the photosynthetically competent colonies: both were smaller than the 169-bp fragment found in the OF28 cells but larger than the amplification ... See full document
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STRetch: detecting and discovering pathogenic short tandem repeat expansions
... We next assessed the sensitivity, specificity, and false dis- covery rate (FDR) of STRetch on these samples. We con- sidered STRetch calls in 18 samples for which we had DNA available in our lab (the ten test samples ... See full document
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Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioral deficits.
... Frey et al., 2000, Murray et al., 2010, Bennett et al., 2014), we asked whether peripheral neuromuscular junctions were altered in the HRE-102 expressing mice. To do this, muscles from twelve-month old mice were doubly ... See full document
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The enigmatic role of the ankyrin repeat domain 1 gene in heart development and disease
... ankyrin repeat domain 1 (ANKRD1) factor (also known as CARP) plays a critical role in transcriptional regulation, myofibrillar assembly and stretch sensing during heart development and cardiac ... See full document
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A Mutation of the Yeast Gene Encoding PCNA Destabilizes Both Microsatellite and Minisatellite DNA Sequences
... with repeat units of 1, 2, or 5 and 1 with no ...the microsatellite with repeat deletions in the double-mutant strain appears the 8-bp repeat unit, however, is significantly elevated ... See full document
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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
... CGG repeat expansion in the premuta- tion range (55 to 200 CGG repeats) in the FMR1 ...tremor associated with executive function deficits and generalized brain atrophy ...[30]. Expansions over 200 ... See full document
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Evaluation of a Multilocus Variable Number Tandem Repeat Analysis Scheme for Typing Human Brucella Isolates in a Region of Brucellosis Endemicity
... human disease in North America, Northern Europe, and Northwest Asia, where most cases are now due to either travel to areas of endemicity, accidental laboratory exposure, or occasionally, exposure to wild animals ... See full document
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TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
... Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), and may be the ... See full document
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Padé approximant related to asymptotics for the gamma function
... 53. Nemes, G: More accurate approximations for the gamma function. Thai J. Math. 9, 21-28 (2011) 54. Nemes, G: New asymptotic expansion for the Gamma function. Arch. Math. (Basel) 95, 161-169 (2010) 55. Alzer, H: On some ... See full document
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Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
... neurodegenerative disease (Cameron and Crawford, ...Huntington’s disease was suspected to be ...Creutzfeldt-Jakob disease (sCJD) was confused when other affected family members fitted neither ... See full document
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Microsatellite instability at a tetranucleotide repeat in type I endometrial carcinoma
... of microsatellite loci were designed and are shown in Table ...For microsatellite analysis, one primer was end-labeled with T4 polynucleotide kinase (Takara, Japan) and 32 P-γ ... See full document
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Lehmer, Carina (2018): Molecular mechanisms and biomarkers of familial FTD/ALS. Dissertation, LMU München: Medizinische Fakultät
... In recent years, a number of genes causing pure FTD, ALS or mixed FTD/ALS have been identified. Mutations in the microtubule-associated protein Tau ( MAPT ), progranulin ( GRN ) or less frequently in charged ... See full document
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Protein-mediated RNA folding governs sequence-specific interactions between rotavirus genome segments
... of RNA-RNA contacts in the presence of ...affect RNA binding by NSP2 octamers (Figure 1—figure supplement 4A), nor had it any effect on the apparent S11:S5 CCF amplitude (Figure 1—figure supplement ... See full document
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Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
... of RNA foci in cerebellum, where p62-positive protein inclusion pathology is characteristic of C9orf72 + disease (Cooper-Knock et ...between RNA foci and characteristic neuropathology of C9orf72 + ... See full document
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