Search Results - "Schafer, Alan J."

Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action by Barroso, Inês, Luan, Jian'an, Middelberg, Rita P S, Harding, Anne-Helen, Franks, Paul W, Jakes, Rupert W, Clayton, D, Schafer, Alan J, O'Rahilly, Stephen, Wareham, Nicholas J

“…Type 2 diabetes is an increasingly common, serious metabolic disorder with a substantial inherited component. It is characterised by defects in both insulin…”
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DNA variation and the future of human genetics by Schafer, Alan J, Hawkins, J. Ross

“…The use of DNA variants in the mapping of the human genome and in the positional cloning of monogenic disease genes is well established. Determining the…”
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Genetic Variants in Human Sterol Regulatory Element Binding Protein-1c in Syndromes of Severe Insulin Resistance and Type 2 Diabetes by Laudes, Matthias, Barroso, Inês, Luan, Jian’an, Soos, Maria A., Yeo, Giles, Meirhaeghe, Aline, Logie, Lisa, Vidal-Puig, Antonio, Schafer, Alan J., Wareham, Nick J., O’Rahilly, Stephen

“…Genetic Variants in Human Sterol Regulatory Element Binding Protein-1c in Syndromes of Severe Insulin Resistance and Type 2 Diabetes Matthias Laudes 1 , Inês…”
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Variation in the eNOS Gene Modifies the Association Between Total Energy Expenditure and Glucose Intolerance by FRANKS, Paul W, LUAN, Jianan, BARROSO, Ines, BRAGE, Søren, GONZALEZ SANCHEZ, Jose Luis, EKELUND, Ulf, SERRANO RIOS, Manuel, SCHAFER, Alan J, O'RAHILLY, Stephen, WAREHAM, Nicholas J

“…Variation in the eNOS Gene Modifies the Association Between Total Energy Expenditure and Glucose Intolerance Paul W. Franks 1 2 , Jian’an Luan 1 , Inês Barroso…”
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A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2 by George, Stella, Rochford, Justin J., Wolfrum, Christian, Gray, Sarah L., Schinner, Sven, Wilson, Jenny C., Soos, Maria A., Murgatroyd, Peter R., Williams, Rachel M., Acerini, Carlo L., Dunger, David B., Barford, David, Umpleby, A. Margot, Wareham, Nicholas J., Davies, Huw Alban, Schafer, Alan J., Stoffel, Markus, O'Rahilly, Stephen, Barroso, Inês

“…Inherited defects in signaling pathways downstream of the insulin receptor have long been suggested to contribute to human type 2 diabetes mellitus. Here we…”
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Sex determination in humans by Schafer, A J, Goodfellow, P N

“…In mammals, the Y chromosome induces testis formation and thus male sexual development; in the absence of a Y chromosome, gonads differentiate into ovaries and…”
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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene by Foster, Jamie W, Dominguez-Steglich, Marina A, Guioli, Silvana, Kwok, Cheni, Weller, Polly A, Stevanovi, Milena, Weissenbach, Jean, Mansour, Sahar, Young, Ian D, Goodfellow, Peter N, Brook, J. David, Schafer, Alan J

“…Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes…”
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Digenic inheritance of severe insulin resistance in a human pedigree by O'Rahilly, Stephen, Savage, David B, Agostini, Maura, Barroso, Inês, Gurnell, Mark, Luan, Jian'an, Meirhaeghe, Aline, Harding, Anne-Helen, Ihrke, Gudrun, Rajanayagam, Odelia, Soos, Maria A, George, Stella, Berger, Dirk, Thomas, E. Louise, Bell, Jimmy D, Meeran, Karim, Ross, Richard J, Vidal-Puig, Antonio, Wareham, Nicholas J, Chatterjee, V. Krishna K, Schafer, Alan J

“…Impaired insulin action is a key feature of type 2 diabetes and is also found, to a more extreme degree, in familial syndromes of insulin resistance. Although…”
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Compound Effects of Point Mutations Causing Campomelic Dysplasia/Autosomal Sex Reversal upon SOX9 Structure, Nuclear Transport, DNA Binding, and Transcriptional Activation by Preiss, S, Argentaro, A, Clayton, A, John, A, Jans, D A, Ogata, T, Nagai, T, Barroso, I, Schafer, A J, Harley, V R

“…Human mutations in the transcription factor SOX9 cause campomelic dysplasia/autosomal sex reversal. Here we identify and characterize two novel heterozygous…”
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Association study of candidate genes for the prevalence and progression of knee osteoarthritis by Valdes, Ana M., Hart, Deborah J., Jones, Karen A., Surdulescu, Gabriela, Swarbrick, Peter, Doyle, David V., Schafer, Alan J., Spector, Tim D.

“…Objective Osteoarthritis (OA), characterized by late‐onset degeneration of articular cartilage, is recognized to have a genetic component. We examined the role…”
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Differentiating campomelic dysplasia from Cumming syndrome by Watiker, Valerie, Lachman, Ralph S., Wilcox, William R., Barroso, Inês, Schafer, Alan J., Scherer, Gerd

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In PLoS Biology, volume 1, issue 1: Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action by Barroso, Inês, Luan, Jian'an, Middelberg, Rita P. S, Harding, Anne-Helen, Franks, Paul W, Jakes, Rupert W, Clayton, David, Schafer, Alan J, O'Rahilly, Stephen, Wareham, Nicholas J

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Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene by Schafer, A J, Foster, J W, Kwok, C, Weller, P A, Guioli, S, Goodfellow, P N

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The Role of SOX9 in Autosomal Sex Reversal and Campomelic Dysplasia [and Discussion] by Schafer, Alan J., Dominguez-Steglich, Marina A., Guioli, Silvana, Kwok, Cheni, Weller, Polly A., Stevanovic, Milena, Weissenbach, Jean, Mansour, Sahar, Young, Ian D., Goodfellow, Peter N., Brook, J. David, Foster, Jamie W., Burgoyne, P., Graves, J. A. M.

“…In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome is sex determining, loci located…”
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International network of cancer genome projects by Hudson, Thomas J., Anderson, Warwick, Artez, Axel, Barker, Anna D., Bell, Cindy, Bernabé, Rosa R., Bhan, M. K., Calvo, Fabien, Eerola, Iiro, Gerhard, Daniela S., Guttmacher, Alan, Guyer, Mark, Hemsley, Fiona M., Jennings, Jennifer L., Kerr, David, Klatt, Peter, Kolar, Patrik, Kusuda, Jun, Lane, David P., Laplace, Frank, Lu, Youyong, Nettekoven, Gerd, Ozenberger, Brad, Peterson, Jane, Rao, T.S., Remacle, Jacques, Schafer, Alan J., Shibata, Tatsuhiro, Stratton, Michael R., Vockley, Joseph G, Watanabe, Koichi, Yang, Huanming, Yuen, Matthew M. F., Knoppers, Bartha Maria Bm, Bobrow, Martin, Cambon-Thomsen, Anne, Dressler, Lynn G, Dyke, Stephanie O. M., Joly, Yann, Kato, Kazuto, Kennedy, Karen L., Nicolás, Pilar, Parker, Michael J., Rial-Sebbag, Emmanuelle, Romeo-Casabona, Carlos M, Shaw, Kenna M., Wallace, Susan, Wiesner, Georgia L, Zeps, Nikolajs, Lichter, Peter, Biankin, Andrew V, Chabannon, Christian, Chin, Lynda, Clément, Bruno, de Alava, Enrique, Degos, Françoise, Ferguson, Martin L., Geary, Peter, Hayes, D. Neil, Johns, Amber L., Kasprzyk, Arek, Nakagawa, Hidewaki, Penny, Robert, Piris, Miguel A., Sarin, Rajiv, Scarpa, Aldo, van de Vijver, Marc, Aburatani, Hiroyuki, Bayés, Mónica, Bowtell, David D L, Campbell, Peter J., Estivill, Xavier, Futreal, P Andrew, Gerhard, Daniela S, Grimmond, Sean M, Gut, Ivo G, Hirst, Martin, López-Otín, Carlos, Majumder, Partha, Marra, Marco, Mcpherson, John D, Ning, Zemin, Puente, Xose S, Ruan, Yijun, Stunnenberg, Hendrik G, Swerdlow, Harold, Velculescu, Victor E, Wilson, Richard K., Xue, Hong H., Yang, Liu, Spellman, Paul T, Bader, Gary D., Boutros, Paul C, Flicek, Paul, Getz, Gad, Guigo, Roderic, Guo, Guangwu, Haussler, David, Heath, Simon, Hubbard, Tim J.

“…The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or…”
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Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal by CHENI KWOK, WELLER, P. A, GOODFELLOW, P. N, SCHAFER, A. J, GUIOLI, S, FOSTER, J. W, SAHAR MANSOUR, ZUFFARDI, O, PUNNETT, H. H, DOMINGUEZ-STEGLICH, M. A, BROOK, J. D, YOUNG, I. D

“…Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was…”
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Correction: Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action by Barroso, Inês, Luan, Jian'an, Middelberg, Rita P. S, Harding, Anne-Helen, Jakes, Rupert W, Clayton, David, Schafer, Alan J, O'Rahilly, Stephen, Wareham, Nicholas J

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Sex determination and its pathology in man by Schafer, A J

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Correction: Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in [beta]-Cell Function as Well as Insulin Action: e92 by Barroso, Inês, Luan, an, Middelberg, Rita PS, Harding, Anne-Helen, Jakes, Rupert W, Clayton, David, Schafer, Alan J, Wareham, Nicholas J

“…Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action One of the variants…”
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PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max by Franks, Paul W, Barroso, Inês, Luan, Jian'an, Ekelund, Ulf, Crowley, Vivion E F, Brage, Søren, Sandhu, Manjinder S, Jakes, Rupert W, Middelberg, Rita P S, Harding, Anne-Helen, Schafer, Alan J, O'Rahilly, Stephen, Wareham, Nicholas J

“…Sedentary lifestyles are increasingly common and result in low cardiorespiratory fitness ([OV0312]O2max), a well-established predictor of early mortality and…”
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