Search Results - "Jakupciak, JP"
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Breakpoints of Gross Deletions Coincide with Non-B DNA Conformations
Published in Proceedings of the National Academy of Sciences - PNAS (28-09-2004)“…Genomic rearrangements are a frequent source of instability, but the mechanisms involved are poorly understood. A 2.5-kbp poly(purine·pyrimidine) sequence from…”
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Genetic Instabilities in (CTG·CAG) Repeats Occur by Recombination
Published in The Journal of biological chemistry (13-08-1999)“…The expansion of triplet repeat sequences (TRS) associated with hereditary neurological diseases is believed from prior studies to be due to DNA replication…”
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Mitochondrial DNA as a Cancer Biomarker
Published in The Journal of molecular diagnostics : JMD (01-05-2005)“…As part of a national effort to identify biomarkers for the early detection of cancer, we developed a rapid and high-throughput sequencing protocol for the…”
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Gene Conversion (Recombination) Mediates Expansions of CTG·CAG Repeats
Published in The Journal of biological chemistry (22-12-2000)“…Genetic recombination is a robust mechanism for expanding CTG·CAG triplet repeats involved in the etiology of hereditary neurological diseases (Jakupciak, J…”
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Real-time telomerase activity measurements for detection of cancer
Published in Expert review of molecular diagnostics (01-09-2005)“…Since the hallmark report of the PCR-based telomeric repeat amplification protocol (TRAP) in 1994, there has been a flurry of investigations of telomerase…”
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Genetic Instabilities of Triplet Repeat Sequences by Recombination
Published in IUBMB life (01-12-2000)“…The expansion of triplet repeat sequences is an initial step in the disease etiology of a number of hereditary neurological disorders in humans. Diseases such…”
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Analytical Validation of Telomerase Activity for Cancer Early Detection: TRAP/PCR-CE and hTERT mRNA Quantification Assay for High-Throughput Screening of Tumor Cells
Published in The Journal of molecular diagnostics : JMD (01-08-2004)“…Activation of telomerase plays a critical role in unlimited proliferation and immortalization of cells. Telomerase activity has been shown to correlate with…”
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Standardization of PCR amplification for fragile X trinucleotide repeat measurements
Published in Clinical genetics (01-01-2002)“…To provide the clinical diagnostics community with accurate protocols and measurements for the detection of genetic disorders, we have established a…”
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Improved methods and standards for telomerase detection: quantitative histopathology using antibody staining
Published in Biotechnic & histochemistry (01-10-2009)“…Evaluation of telomerase as an early detection biomarker for cancer has been hindered by a lack of reliable methods and standards for in situ histochemical…”
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