Search Results - "Gaunt, T R"

MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes by Sobczyk, M K, Gaunt, T R, Paternoster, L

“…Abstract Motivation Gene prioritization at human GWAS loci is challenging due to linkage-disequilibrium and long-range gene regulatory mechanisms. However,…”
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Epigenetic profiling of ADHD symptoms trajectories: a prospective, methylome-wide study by Walton, E, Pingault, J -B, Cecil, C A M, Gaunt, T R, Relton, C L, Mill, J, Barker, E D

“…Attention-deficit/hyperactivity disorder (ADHD) is a prevalent developmental disorder, associated with a range of long-term impairments. Variation in DNA…”
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DNA methylation and substance-use risk: a prospective, genome-wide study spanning gestation to adolescence by Cecil, C A M, Walton, E, Smith, R G, Viding, E, McCrory, E J, Relton, C L, Suderman, M, Pingault, J-B, McArdle, W, Gaunt, T R, Mill, J, Barker, E D

“…Epigenetic processes have been implicated in addiction; yet, it remains unclear whether these represent a risk factor and/or a consequence of substance use…”
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MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes by Sobczyk, M K, Gaunt, T R, Paternoster, L

“…Gene prioritization at human GWAS loci is challenging due to linkage-disequilibrium and long-range gene regulatory mechanisms. However, identifying the causal…”
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Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males by GAUNT, Tom R, COOPER, Jacqueline A, MILLER, George J, DAY, Ian N. M, O'DELL, Sandra D

“…We previously demonstrated an association between the insulin-like growth factor 2 (IGF2) gene 3'-untranslated region (3'-UTR) ApaI polymorphism and body mass…”
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Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits by Abdollahi, M R, Gaunt, T R, Syddall, H E, Cooper, C, Phillips, D I W, Ye, S, Day, I N M

“…Background: The renin angiotensin system is important in the regulation of vascular tone and fluid and electrolyte balance. The angiotensin converting enzyme…”
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IGF2BP1 , IGF2BP2 and IGF2BP3 genotype, haplotype and genetic model studies in metabolic syndrome traits and diabetes by Rodriguez, S, Eiriksdottir, G, Gaunt, T.R, Harris, T.B, Launer, L.J, Gudnason, V, Day, I.N.M

“…Abstract Objective Genetic variation at the insulin-like binding protein 2 ( IGF2BP2 ) gene has been associated with type 2 diabetes (T2D) by genome-wide…”
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Genotype of galectin 2 (LGALS2) is associated with insulin-glucose profile in the British Women's Heart and Health Study by Christensen, M. B, Lawlor, D. A, Gaunt, T. R, Howell, M.W, Davey Smith, G, Ebrahim, S, Day, I. N. M

“…Aims/hypothesis It has been suggested that the gene encoding lymphotoxin-alpha (LTA) is associated with insulin resistance, and genetic association studies in…”
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Manual 768 or 384 well microplate gel ‘dry’ electrophoresis for PCR checking and SNP genotyping by Gaunt, Tom R., Hinks, Lesley J., Rassoulian, Hamid, Day, Ian N. M.

“…Electrophoresis continues to be a mainstay in molecular genetic laboratories for checking, sizing and separating both PCR products, nucleic acids derived from…”
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Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families by HOLLOWAY, J. W, LONJOU, C, HOLGATE, S. T, MORTON, N. E, BEGHE, B, PENG, Q, GAUNT, T. R, GOMES, I, HALL, I. P, DEWAR, J. C, WILKINSON, J, THOMAS, N. S

“…Atopy and asthma are complex genetic diseases resulting from the interactions of a number of genetic and environmental factors. We had previously reported…”
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SNP genotyping by combination of 192-well MADGE, ARMS and computerized gel image analysis by O'Dell, S D, Gaunt, T R, Day, I N

“…A new modification of the microplate array diagonal gel electrophoresis (MADGE) system accommodates the dual amplification refractory mutation system (ARMS)…”
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Refined Association Mapping for a Quantitative Trait: Weight in the H19‐IGF2‐INS‐TH Region by Zhang, W., Maniatis, N., Rodriguez, S., Miller, G. J., Day, I. N. M., Gaunt, T. R., Collins, A., Morton, N. E.

“…Summary Previous analyses have provided evidence for one or more loci affecting body weight in the H19‐IGF2‐INS‐TH region on chromosome 11p15. To identify the…”
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MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes by Sobczyk, M K, Gaunt, T R, Paternoster, L

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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation by Longchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., Feitosa, M. F., Wojczynski, M. K., Kraja, A. T., Province, M. A., Amin, N., Rivadeneira, F., Tiemeier, H., Uitterlinden, A. G., Broer, L., Van Meurs, J. B. J., Van Duijn, C. M., Raffield, L. M., Lange, L., Rich, S. S., Lemaitre, R. N., Goodarzi, M. O., Sitlani, C. M., Mak, A. C. Y., Bennett, D. A., Rodriguez, S., Murabito, J. M., Lunetta, K. L., Sotoodehnia, N., Atzmon, G., Ye, K., Barzilai, N., Brody, J. A., Psaty, B. M., Taylor, K. D., Rotter, J. I., Boerwinkle, E., Pankratz, N., Arking, D. E.

“…Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both…”
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Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data by Tachmazidou, Ioanna, Hatzikotoulas, Konstantinos, Southam, Lorraine, Esparza-Gordillo, Jorge, Haberland, Valeriia, Zheng, Jie, Johnson, Toby, Koprulu, Mine, Zengini, Eleni, Steinberg, Julia, Wilkinson, Jeremy M., Bhatnagar, Sahir, Hoffman, Joshua D., Buchan, Natalie, Süveges, Dániel, Yerges-Armstrong, Laura, Smith, George Davey, Gaunt, Tom R., Scott, Robert A., McCarthy, Linda C., Zeggini, Eleftheria

“…Osteoarthritis is the most common musculoskeletal disease and the leading cause of disability globally. Here, we performed a genome-wide association study for…”
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OP77The epigenetic clock and development during childhood and adolescence: longitudinal analysis from a UK birth cohort by Simpkin, A J, Tilling, K, Howe, L D, Gaunt, T R, Lyttleton, O, McCardle, W L, Ring, S M, Relton, CL, Smith, G Davey

“…BackgroundStatistical models (known as epigenetic clocks) that use an individual's DNA methylation to predict their age have recently been developed, with 96%…”
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Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020 by Tobias, Jonathan H, Duncan, Emma L, Kague, Erika, Hammond, Chrissy L, Gregson, Celia L, Bassett, Duncan, Williams, Graham R, Min, Josine L, Gaunt, Tom R, Karasik, David, Ohlsson, Claes, Rivadeneira, Fernando, Edwards, James R, Hannan, Fadil M, Kemp, John P, Gilbert, Sophie J, Alonso, Nerea, Hassan, Neelam, Compston, Juliet E, Ralston, Stuart H

“…The discovery that sclerostin is the defective protein underlying the rare heritable bone mass disorder, sclerosteosis, ultimately led to development of…”
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Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease by RODRIGUEZ, Santiago, GAUNT, Tom R, DAY, Ian N. M

“…The human growth hormone gene (GH1) and the insulin-like growth factor 1 and 2 genes (IGF1 and IGF2) encode the central elements of a key pathway influencing…”
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Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip by Gaunt, Tom R, Zabaneh, Delilah, Shah, Sonia, Guyatt, Anna, Ladroue, Christophe, Kumari, Meena, Drenos, Fotios, Shah, Tina, Talmud, Philippa J, Casas, Juan Pablo, Lowe, Gordon, Rumley, Ann, Lawlor, Debbie A, Kivimaki, Mika, Whittaker, John, Hingorani, Aroon D, Humphries, Steve E, Day, Ian N

“…Coagulation phenotypes show strong intercorrelations, affect cardiovascular disease risk and are influenced by genetic variants. The objective of this study…”
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FAMILIAL CARDIOMEGALY by Gaunt, R. T., Lecutier, M. A.

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