Search Results - "Pfaff, Abigail"

Innovative approaches for treatment of osteosarcoma by Rothzerg, Emel, Pfaff, Abigail L, Koks, Sulev

“…Osteosarcoma (OS) is the most common primary malignant bone tumor, which usually occurs in children and adolescents. It is generally a high-grade malignancy…”
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Mechanisms of disease-associated SINE-VNTR-Alus by Pfaff, Abigail L, Singleton, Lewis M, Kõks, Sulev

“…SINE-VNTR-Alus (SVAs) are the youngest retrotransposon family in the human genome. Their ongoing mobilization has generated genetic variation within the human…”
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Longitudinal intronic RNA-Seq analysis of Parkinson’s disease patients reveals disease-specific nascent transcription by Koks, Sulev, Pfaff, Abigail L, Bubb, Vivien J, Quinn, John P

“…Transcriptomic studies usually focus on either gene or exon-based annotations, and only limited experiments have reported changes in reads mapping to introns…”
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Reference LINE-1 insertion polymorphisms correlate with Parkinson’s disease progression and differential transcript expression in the PPMI cohort by Fröhlich, Alexander, Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev

“…Long interspersed nuclear element-1 (LINE-1/L1) retrotransposons make up 17% of the human genome. They represent one class of transposable elements with the…”
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Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals by Fröhlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J, Quinn, John P, Koks, Sulev

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder and the most common form of motor neurone disease (MND) which is characterized by the…”
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A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis by Pfaff, Abigail L, Bubb, Vivien J, Quinn, John P, Koks, Sulev

“…The hominid-specific retrotransposon SINE-VNTR-Alu (SVA) is a composite element that has contributed to the genetic variation between individuals and…”
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Longitudinal dysregulation of long non-coding RNAs in Parkinson’s disease by Müller-Nedebock, Amica C, Cuttler, Katelyn, Pfaff, Abigail L, Kõks, Sulev

“…Long non-coding RNAs (lncRNAs) have been suggested as potential biomarkers for Parkinson’s disease (PD). This study aimed to identify blood-based lncRNA…”
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At the dawn of the transcriptomic medicine by Koks, Gea, Pfaff, Abigail L, Bubb, Vivien J, Quinn, John P, Koks, Sulev

“…Progress in genomic analytical technologies has improved our possibilities to obtain information regarding DNA, RNA, and their dynamic changes that occur over…”
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SVA Regulation of Transposable Element Clustered Transcription within the Major Histocompatibility Complex Genomic Class II Region of the Parkinson's Progression Markers Initiative by Kulski, Jerzy K, Pfaff, Abigail L, Koks, Sulev

“…SINE-VNTR-Alu (SVA) retrotransposons can regulate expression quantitative trait loci (eQTL) of coding and noncoding genes including transposable elements (TEs)…”
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Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson’s disease by Kõks, Sulev, Pfaff, Abigail L, Singleton, Lewis M, Bubb, Vivien J, Quinn, John P

“…The pathophysiology of Parkinson’s disease (PD) is a complex process of the interaction between genetic and environmental factors. Studies on the genetic…”
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Regulatory SVA retrotransposons and classical HLA genotyped-transcripts associated with Parkinson's disease by Kulski, Jerzy K, Suzuki, Shingo, Shiina, Takashi, Pfaff, Abigail L, Kõks, Sulev

“…Parkinson's disease (PD) is a neurodegenerative and polygenic disorder characterised by the progressive loss of neural dopamine and onset of movement…”
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Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson’s disease progression by Fröhlich, Alexander, Pfaff, Abigail L., Middlehurst, Ben, Hughes, Lauren S., Bubb, Vivien J., Quinn, John P., Koks, Sulev

“…SINE-VNTR- Alu (SVA) retrotransposons are transposable elements which represent a source of genetic variation. We previously demonstrated that the…”
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Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex by Kulski, Jerzy K, Pfaff, Abigail L, Marney, Luke D, Fröhlich, Alexander, Bubb, Vivien J, Quinn, John P, Koks, Sulev

“…Genomic and transcriptomic studies of expression quantitative trait loci (eQTL) revealed that SINE-VNTR-Alu (SVA) retrotransposon insertion polymorphisms…”
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An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson's Disease Risk and Progression in the PPMI Cohort by Pfaff, Abigail L, Bubb, Vivien J, Quinn, John P, Koks, Sulev

“…Long interspersed element-1 (LINE-1/L1s) contributes 17% of the human genome with more than 1 million elements present; however, fewer than 100 of these have…”
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Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome by Koks, Sulev, Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P.

“…Transposable elements (TEs) are repetitive elements that belong to a variety of functional classes and have an important role in shaping genome evolution…”
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Variable number tandem repeats – Their emerging role in sickness and health by Marshall, Jack NG, Lopez, Ana Illera, Pfaff, Abigail L, Koks, Sulev, Quinn, John P, Bubb, Vivien J

“…Understanding the mechanisms regulating tissue specific and stimulus inducible regulation is at the heart of understanding human biology and how this…”
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Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System by Hughes, Lauren S, Fröhlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J, Quinn, John P, Kõks, Sulev

“…Transposable elements (TEs) are repetitive elements which make up around 45% of the human genome. A class of TEs, known as SINE-VNTR-Alu (SVA), demonstrate the…”
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Characterisation of the Function of a SINE-VNTR- Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus by Fröhlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J, Koks, Sulev, Quinn, John P

“…SINE-VNTR- retrotransposons represent one class of transposable elements which contribute to the regulation and evolution of the primate genome and have the…”
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Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression by Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev

“…The development of Parkinson’s disease (PD) involves a complex interaction of genetic and environmental factors. Genome-wide association studies using…”
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CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus by Fröhlich, Alexander, Hughes, Lauren S., Middlehurst, Ben, Pfaff, Abigail L., Bubb, Vivien J., Koks, Sulev, Quinn, John P.

“…Background SINE-VNTR- Alu (SVA) retrotransposons are hominid-specific elements which have been shown to play important roles in processes such as chromatin…”
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