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Your search keyword '"Bui, Quang M."' showing total 11 results
Start Over Author "Bui, Quang M." Publisher elsevier bv
11 results on '"Bui, Quang M."'

1. FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Author

Kraan, Claudine M., primary, Bui, Quang M., additional, Field, Mike, additional, Archibald, Alison D., additional, Metcalfe, Sylvia A., additional, Christie, Louise M., additional, Bennetts, Bruce H., additional, Oertel, Ralph, additional, Smith, Melanie J., additional, du Sart, Desiree, additional, Bruno, Damien, additional, Wotton, Tiffany L., additional, Amor, David J., additional, Francis, David, additional, and Godler, David E., additional

Published
2018
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2. The use of droplet digital PCR and high resolution melt for detection of low level mosaicism

Author

Godler, David E., primary, Christodoulou, John, additional, Bruno, Damien, additional, Li, Xin, additional, Inaba, Yoshimi, additional, Bui, Quang M., additional, Francis, David, additional, Elliot, Justine, additional, Wotton, Tiffany, additional, Cohen, Jonathan, additional, Rogers, Carolyn, additional, Field, Mike, additional, Slater, Howard R., additional, and Amor, David J., additional

Published
2018
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3. Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation

Author

Hocking, Darren R., primary, Birch, Rachael C., additional, Bui, Quang M., additional, Menant, Jasmine C., additional, Lord, Stephen R., additional, Georgiou-Karistianis, Nellie, additional, Godler, David E., additional, Wen, Wei, additional, Hackett, Anna, additional, Rogers, Carolyn, additional, and Trollor, Julian N., additional

Published
2017
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4. Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

Author

Hocking, Darren R., primary, Kraan, Claudine M., additional, Godler, David E., additional, Bui, Quang M., additional, Li, Xin, additional, Bradshaw, John L., additional, Georgiou-Karistianis, Nellie, additional, Metcalfe, Sylvia A., additional, Archibald, Alison D., additional, Turbitt, Erin, additional, Fielding, Joanne, additional, Trollor, Julian, additional, Cohen, Jonathan, additional, and Cornish, Kim M., additional

Published
2015
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5. Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Author

Inaba, Yoshimi, primary, Herlihy, Amy S., additional, Schwartz, Charles E., additional, Skinner, Cindy, additional, Bui, Quang M., additional, Cobb, Joanna, additional, Shi, Elva Z., additional, Francis, David, additional, Arvaj, Alison, additional, Amor, David J., additional, Pope, Kate, additional, Wotton, Tiffany, additional, Cohen, Jonathan, additional, Hewitt, Jacqueline K., additional, Hagerman, Randi J., additional, Metcalfe, Sylvia A., additional, Hopper, John L., additional, Loesch, Danuta Z., additional, Slater, Howard R., additional, and Godler, David E., additional

Published
2013
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6. Does eczema in infancy cause hay fever, asthma, or both in childhood? Insights from a novel regression model of sibling data

Author

Hopper, John L., primary, Bui, Quang M., additional, Erbas, Bircan, additional, Matheson, Melanie C., additional, Gurrin, Lyle C., additional, Burgess, John A., additional, Lowe, Adrian J., additional, Jenkins, Mark A., additional, Abramson, Michael J., additional, Walters, E. Haydn, additional, Giles, Graham G., additional, and Dharmage, Shyamali C., additional

Published
2012
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8. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Author

Loesch, Danuta Z., primary, Godler, David E., additional, Evans, Andrew, additional, Bui, Quang M., additional, Gehling, Freya, additional, Kotschet, Katya E., additional, Trost, Nicholas, additional, Storey, Elsdon, additional, Stimpson, Paige, additional, Kinsella, Glynda, additional, Francis, David, additional, Thorburn, David R., additional, Venn, Alison, additional, Slater, Howard R., additional, and Horne, Malcolm, additional

Published
2011
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10. FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles

Author

Randi J Hagerman, Quang M. Bui, Danuta Z. Loesch, Michele Ono, Freya Gehling, David J. Amor, John L. Hopper, David Francis, David E. Godler, Howard R. Slater, Godler, David E, Slater, Howard R, Bui, Quang M, Ono, Michele, Gehling, Freya, Francis, David, Amor, David J, Hopper, John L, Hagerman, Randi, and Loesch, Danuta Z

Subjects
Adult, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Biology, Pathology and Forensic Medicine, Fragile X Mental Retardation Protein, fragile X mental retardation gene protein product (FMRP), medicine, Humans, Epigenetics, fragile X syndrome, Allele, Child, FMR 1 gene, Alleles, X chromosome, Genetics, Reproducibility of Results, Regular Article, Methylation, DNA Methylation, Middle Aged, medicine.disease, FMR1, Molecular biology, Introns, Fragile X syndrome, Blotting, Southern, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, DNA methylation, Linear Models, Molecular Medicine, CpG Islands, Female, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
Abstract

Fragile X syndrome (FXS) is caused by loss of the fragile X mental retardation gene protein product (FMRP) through promoter hypermethylation, which is usually associated with CGG expansion to full mutation size (>200 CGG repeats). Methylation-sensitive Southern blotting is the current gold standard for the molecular diagnosis of FXS. For females, Southern blotting provides the activation ratio (AR), which is the proportion of unmethylated alleles on the active X chromosome. Herein, we examine the relationship of FMRP expression with methylation patterns of two fragile X-related epigenetic elements (FREE) analyzed using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry and the AR. We showed that the differential methylation of the FREE2 sequence within fragile X mental retardation gene intron 1 was related to depletion of FMRP expression. We also show that, using the combined cohort of 12 females with premutation (55 to 200 CGG repeats) and 22 females with full mutation alleles, FREE2 methylation analysis was superior to the AR as a predictor of the proportion of FMRP-positive cells in blood. Because matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry is amenable to high-throughput processing and requires minimal DNA, these findings have implications for routine FXS testing and population screening. Refereed/Peer-reviewed

Published
2011

11. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Author

Quang M. Bui, Elsdon Storey, Glynda J. Kinsella, Nicholas Trost, David E. Godler, Freya Gehling, Alison Venn, Katya Kotschet, David R. Thorburn, Howard R. Slater, Andrew Evans, David Francis, Paige Stimpson, Danuta Z. Loesch, Malcolm K. Horne, Loesch, Danuta Z, Godler, David E, Evans, Andrew, Bui, Quang M, Gehling, Freya, Kotschet, Katya E, Trost, Nicholas, Storey, Elsdon, Stimpson, Paige, Kinsella, Glynda, Francis, David, Thorburn, David R, Venn, Alison, Slater, Howard R, and Horne, Malcolm

Subjects
Male, medicine.medical_specialty, Pathology, Transcription, Genetic, Population, Disease, Motor Activity, Biology, DNA, Mitochondrial, Article, Pathogenesis, Fragile X Mental Retardation Protein, Parkinsonian Disorders, gray zone, Internal medicine, mitochondrial dysfunction, medicine, Humans, RNA, Messenger, Allele, Cognitive decline, education, Alleles, Genetic Association Studies, parkinsonism, Genetics (clinical), Aged, Aged, 80 and over, education.field_of_study, Parkinsonism, Middle Aged, medicine.disease, FMR1, nervous system diseases, premutation, Endocrinology, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
Abstract

Purpose: Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1(FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders. Methods: Detailed clinical assessment and genetic testing were performed in 14 male carriers of premutation and gray zone FMR1 alleles and in 24 non carriers identified in a sample of males with parkinsonism. Results: The premutation gray zone carriers presented with more severe symptoms than disease controls matched for age, diagnosis, disease duration, and treatment. The Parkinson disease (Unified Parkinson's Disease Rating Scale) motor score and the measures of cognitive decline (Mini-Mental State Examination and/or Addenbrooke's Cognitive Examination Final Revised Version Ascores) were significantly correlated with the size of the CGG repeat and the (elevated) levels of antisense FMR1 and Cytochrome C1 mRNAs in blood leukocytes. In addition, the carriers showed a significant depletion of the nicotinamide adenine dinucleotide, reduced dehydrogenase sub unit 1 mitochondrial gene in whole blood. Conclusion: Small CGG expansion FMR1 alleles (gray zone and lower end premutation) play a significant role in the development of the parkinsonian phenotype,possibly through the cytotoxic effect of elevated sense and/or antisense FMR1 transcripts involving mitochondrial dysfunction and leading to progressive neurodegeneration. Refereed/Peer-reviewed

Published
2011

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