Search Results - "Van Dyk, Etresia"

Characterization of the cell-free DNA released by cultured cancer cells by Bronkhorst, Abel Jacobus, Wentzel, Johannes F., Aucamp, Janine, van Dyk, Etresia, du Plessis, Lissinda, Pretorius, Piet J.

“…The most prominent factor that delays the translation of cell-free DNA (cfDNA) analyses to clinical practice is the lack of knowledge regarding its origin and…”
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Exposure to high levels of fumarate and succinate leads to apoptotic cytotoxicity and altered global DNA methylation profiles in vitro by Wentzel, Johannes F., Lewies, Angélique, Bronkhorst, Abel J., van Dyk, Etresia, du Plessis, Lissinda H., Pretorius, Piet J.

“…In the Krebs cycle, succinate is oxidized to fumarate by succinate dehydrogenase (SDH), followed by the conversion of fumarate to malate by fumarate hydratase…”
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Assessing the DNA methylation status of single cells with the comet assay by Wentzel, Johannes F., Gouws, Chrisna, Huysamen, Cristal, Dyk, Etresia van, Koekemoer, Gerhard, Pretorius, Pieter J.

“…The comet assay (single cell gel electrophoresis) is a cost-effective, sensitive, and simple technique that is traditionally used for analyzing and quantifying…”
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Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort：The SABPA study by Venter, Marianne, Malan, Leone, van Dyk, Etresia, Elson, Joanna L., van der Westhuizen, Francois H.

“…Mitochondrial DNA（mt DNA） variation has been implicated in many common complex diseases, but inconsistent and contradicting results are common. Here we…”
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Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome by Schoeman, Elizna M, Van Der Westhuizen, Francois H, Erasmus, Elardus, van Dyk, Etresia, Knowles, Charlotte V Y, Al-Ali, Shereen, Ng, Wan-Fai, Taylor, Robert W, Newton, Julia L, Elson, Joanna L

“…Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role…”
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Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 – a hypothesis by van Dyk, Etresia, Pretorius, Pieter J.

“…Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder affecting fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine…”
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Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease by Schoonen, Maryke, Smuts, Izelle, Louw, Roan, Elson, Joanna L., van Dyk, Etresia, Jonck, Lindi-Maryn, Rodenburg, Richard J.T., van der Westhuizen, Francois H.

“…Mitochondrial disease (MD) is a group of rare inherited disorders with clinical heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS)…”
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Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway by van der Sluis, Rencia, Badenhorst, Christoffel P.S., Erasmus, Elardus, van Dyk, Etresia, van der Westhuizen, Francois H., van Dijk, Alberdina A.

“…Thorough investigation of the glycine conjugation pathway has been neglected. No defect of the glycine conjugation pathway has been reported and this could…”
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An Enquiry Concerning the Characteristics of Cell-Free DNA Released by Cultured Cancer Cells by Bronkhorst, Abel Jacobus, Wentzel, Johannes F, Aucamp, Janine, van Dyk, Etresia, du Plessis, Lissinda H, Pretorius, Piet J

“…Non-invasive screening that utilizes cell-free DNA (cfDNA) offers remarkable potential as a method for the early detection of genetic disorders and a wide…”
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Using a medium-throughput comet assay to evaluate the global DNA methylation status of single cells by Lewies, Angélique, Van Dyk, Etresia, Wentzel, Johannes F, Pretorius, Pieter J

“…The comet assay is a simple and cost effective technique, commonly used to analyze and quantify DNA damage in individual cells. The versatility of the comet…”
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DNA damage and repair in mammalian cells exposed to p-hydroxyphenylpyruvic acid by van Dyk, Etresia, Pretorius, Piet J.

“…Tyrosinemia type 1 (HT1) is an autosomal recessive disorder of the tyrosine metabolism in which the fumarylacetoacetate hydrolase enzyme is defective. This…”
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