Articles with "repeat" as a keyword



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Application of repeat image analysis to radiation therapy imaging modalities as a quality improvement tool for image guided radiotherapy.

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Published in 2023 at "Journal of applied clinical medical physics"

DOI: 10.1002/acm2.14019

Abstract: BACKGROUND Repeat images contribute to excess patient dose and workflow inefficiencies and can be analyzed to identify potential areas for improvement within a program. Although routinely used in diagnostic imaging, repeat image analysis is not… read more here.

Keywords: repeat; image analysis; radiation; repeat image ... See more keywords
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Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis

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Published in 2022 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51673

Abstract: HTT full‐penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients (0.13%). We analyzed HTT CAG repeats in an Italian… read more here.

Keywords: htt cag; repeat; lateral sclerosis; cag ... See more keywords
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Age‐Related Cognitive Changes as a Function of CAG Repeat in Child and Adolescent Carriers of Mutant Huntingtin

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Published in 2021 at "Annals of Neurology"

DOI: 10.1002/ana.26039

Abstract: Limited data exists regarding the disease course of Huntington's Disease (HD) in children and young adults. Here, we evaluate the trajectory of various cognitive skill development as a function of cytosine‐adenine‐guanine (CAG) repeat length in… read more here.

Keywords: age related; cag repeat; repeat; related cognitive ... See more keywords
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GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders

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Published in 2022 at "Annals of Neurology"

DOI: 10.1002/ana.26325

Abstract: CGG/GGC repeat expansion in FMR1 and NOTCH2NLC is reportedly associated with movement disorders; therefore, we hypothesized that the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1, which was previously identified in myopathy, might also be… read more here.

Keywords: repeat expansion; movement disorders; associated movement; repeat ... See more keywords
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Nested PUF Proteins: Extending Target RNA Elements for Gene Regulation

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Published in 2018 at "ChemBioChem"

DOI: 10.1002/cbic.201700458

Abstract: RNA‐binding proteins recognizing unique sequences within large transcriptomes serve as a powerful tool to control RNA metabolism. Pumilio and fem‐3 mRNA‐binding factor (PUF) proteins are considered good candidates for such tools, because they are typically… read more here.

Keywords: puf proteins; puf; repeat; target rna ... See more keywords
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Direct Observation of the Self‐Aggregation of R3R4 Bi‐repeat of Tau Protein

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Published in 2021 at "ChemBioChem"

DOI: 10.1002/cbic.202100013

Abstract: Abstract: Different cryo‐EM derived atomic models of in vivo tau filaments from patients with tauopathies consisted of R3 and R4 repeats of the microtubule‐binding domain. In comparison, only the R3 repeat forms the core of the… read more here.

Keywords: aggregation; tau; self aggregation; repeat ... See more keywords
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Performance of repeat cytology with reflex ThyroSeq genomic classifier for indeterminant thyroid cytology

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Published in 2022 at "Cancer Cytopathology"

DOI: 10.1002/cncy.22552

Abstract: The American Thyroid Association recommends either repeat fine‐needle aspiration biopsy (FNAB) or molecular testing (eg, ThyroSeq) of Bethesda category III (atypia of undetermined significance/follicular lesion of undetermined significance [AUS/FLUS]) nodules to provide further risk stratification.… read more here.

Keywords: thyroseq; repeat cytology; cytology reflex; repeat ... See more keywords
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A comparative study on pathological features of transgenic rat lines expressing either three or four repeat misfolded tau

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Published in 2018 at "Journal of Comparative Neurology"

DOI: 10.1002/cne.24447

Abstract: Human tauopathies represent a heterogeneous group of neurodegenerative disorders characterized by distinct clinical features, typical histopathological structures, and defined ratio(s) of three‐repeat and four‐repeat tau isoforms within pathological aggregates. How the optional microtubule‐binding repeat of… read more here.

Keywords: repeat; three four; pathology; repeat tau ... See more keywords
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Pharmacokinetics of Single and Repeat Doses of Fluticasone Furoate/Umeclidinium/Vilanterol in Healthy Chinese Adults

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Published in 2018 at "Clinical Pharmacology in Drug Development"

DOI: 10.1002/cpdd.626

Abstract: The pharmacokinetics (PK) and safety of single‐inhaler fluticasone furoate/umeclidinium/vilanterol (FF/UMEC/VI) after single and repeat dosing in healthy Chinese adults were assessed. In this open‐label study (NCT02837380), subjects received once‐daily FF/UMEC/VI 100/62.5/25 µg on day 1… read more here.

Keywords: healthy chinese; furoate umeclidinium; repeat; chinese adults ... See more keywords
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Two ovine mitochondrial DNAs harboring a fifth 75/76 bp repeat motif without altered gene expression in Northern Spain

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Published in 2017 at "ELECTROPHORESIS"

DOI: 10.1002/elps.201600308

Abstract: The Basque Country is home to the Latxa sheep breed, which is divided in several varieties such as Latxa Black Face (LBKF) and Latxa Blonde Face (LBLF). Mitochondrial DNA control region analysis of 174 male… read more here.

Keywords: repeat motif; repeat; gene expression;
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A novel FAME1 repeat configuration in a European family identified using a combined genomics approach

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Published in 2023 at "Epilepsia Open"

DOI: 10.1002/epi4.12702

Abstract: Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated with a TTTTA repeat in… read more here.

Keywords: samd12 locus; configuration; novel fame1; repeat ... See more keywords