Works by Savage, David B.

Results: 50
    1

    Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis.

    Published in:
    2016
    By:
    • Lotta, Luca A.;
    • Scott, Robert A.;
    • Sharp, Stephen J.;
    • Burgess, Stephen;
    • Luan, Jian’an;
    • Tillin, Therese;
    • Schmidt, Amand F.;
    • Imamura, Fumiaki;
    • Stewart, Isobel D.;
    • Perry, John R. B.;
    • Marney, Luke;
    • Koulman, Albert;
    • Karoly, Edward D.;
    • Forouhi, Nita G.;
    • Sjögren, Rasmus J. O.;
    • Näslund, Erik;
    • Zierath, Juleen R.;
    • Krook, Anna;
    • Savage, David B.;
    • Griffin, Julian L.
    Publication type:
    journal article
    2

    Correction: A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice.

    Published in:
    2008
    By:
    • Savage, David B.;
    • Zhai, Lanmin;
    • Ravikumar, Balasubramanian;
    • Cheol Soo Choi;
    • Snaar, Johanna E.;
    • McGuire, Amanda C.;
    • Sung-Eun Wou;
    • Medina-Gomez, Gemma;
    • Kim, Sheene;
    • Bock, Cheryl B.;
    • Segvich, Dyann M.;
    • Solanky, Bhavana;
    • Deelchand, Dinesh;
    • Vidal-Puig, Antonio;
    • Wareham, Nicholas J.;
    • Shulman, Gerald I.;
    • Karpe, Fredrik;
    • Taylor, Roy;
    • Pederson, Bartholomew A.;
    • Roach, Peter J.
    Publication type:
    Correction Notice
    3

    A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice.

    Published in:
    PLoS Medicine, 2008, v. 5, n. 1, p. e27, doi. 10.1371/journal.pmed.0050027
    By:
    • Savage, David B.;
    • Lanmin Zhai;
    • Ravikumar, Balasubramanian;
    • Cheol Soo Choi;
    • Snaar, Johanna E.;
    • McGuire, Amanda C.;
    • Sung-Eun Wou;
    • Medina-Gomez, Gemma;
    • Sheene Kim;
    • Bock, Cheryl B.;
    • Segvich, Dyann M.;
    • Vidal-Puig, Antonio;
    • Wareham, Nicholas J.;
    • Shulman, Gerald I.;
    • Karpe, Fredrik;
    • Taylor, Roy;
    • Pederson, Bartholomew A.;
    • Roach, Peter J.;
    • O'Rahilly, Stephen;
    • DePaoli-Roach, Anna A.
    Publication type:
    Article
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    Digenic inheritance of severe insulin resistance in a human pedigree.

    Published in:
    Nature Genetics, 2002, v. 31, n. 4, p. 379, doi. 10.1038/ng926
    By:
    • 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.;
    • O'Rahilly, Stephen;
    • Chatterjee, V. Krishna K.
    Publication type:
    Article
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    Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.

    Published in:
    2015
    By:
    • Nead, Kevin T.;
    • Sharp, Stephen J.;
    • Thompson, Deborah J.;
    • Painter, Jodie N.;
    • Savage, David B.;
    • Semple, Robert K.;
    • Barker, Adam;
    • Perry, John R. B.;
    • Attia, John;
    • Dunning, Alison M.;
    • Easton, Douglas F.;
    • Holliday, Elizabeth;
    • Lotta, Luca A.;
    • O'Mara, Tracy;
    • McEvoy, Mark;
    • Pharoah, Paul D. P.;
    • Scott, Rodney J.;
    • Spurdle, Amanda B.;
    • Langenberg, Claudia;
    • Wareham, Nicholas J.
    Publication type:
    journal article
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    Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 12, p. 6025, doi. 10.1210/jc.2019-00849
    By:
    • Jéru, Isabelle;
    • Vantyghem, Marie-Christine;
    • Bismuth, Elise;
    • Cervera, Pascale;
    • Barraud, Sara;
    • Auclair, Martine;
    • Vatier, Camille;
    • Lascols, Olivier;
    • Savage, David B.;
    • Vigouroux, Corinne
    Publication type:
    Article
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    A Pharmacogenetic Approach to the Treatment of Patients With Mutations.

    Published in:
    2018
    By:
    • Agostini, Maura;
    • Schoenmakers, Erik;
    • Beig, Junaid;
    • Fairall, Louise;
    • Szatmari, Istvan;
    • Rajanayagam, Odelia;
    • Muskett, Frederick W.;
    • Adams, Claire;
    • Marais, A. David;
    • O’Rahilly, Stephen;
    • Semple, Robert K.;
    • Nagy, Laszlo;
    • Majithia, Amit R.;
    • Schwabe, John W. R.;
    • Blom, Dirk J.;
    • Murphy, Rinki;
    • Chatterjee, Krishna;
    • Savage, David B.;
    • O'Rahilly, Stephen
    Publication type:
    journal article
    19

    European lipodystrophy registry: background and structure.

    Published in:
    2020
    By:
    • von Schnurbein, Julia;
    • Adams, Claire;
    • Akinci, Baris;
    • Ceccarini, Giovanni;
    • D'Apice, Maria Rosaria;
    • Gambineri, Alessandra;
    • Hennekam, Raoul C. M.;
    • Jeru, Isabelle;
    • Lattanzi, Giovanna;
    • Miehle, Konstanze;
    • Nagel, Gabriele;
    • Novelli, Giuseppe;
    • Santini, Ferruccio;
    • Santos Silva, Ermelinda;
    • Savage, David B.;
    • Sbraccia, Paolo;
    • Schaaf, Jannik;
    • Sorkina, Ekaterina;
    • Tanteles, George;
    • Vantyghem, Marie-Christine
    Publication type:
    journal article
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    Insulin resistance and white adipose tissue inflammation are uncoupled in energetically challenged Fsp27-deficient mice.

    Published in:
    Nature Communications, 2015, v. 6, n. 1, p. 5949, doi. 10.1038/ncomms6949
    By:
    • Zhou, Linkang;
    • Park, Shi-Young;
    • Xu, Li;
    • Xia, Xiayu;
    • Ye, Jing;
    • Su, Lu;
    • Jeong, Kyeong-Hoon;
    • Hur, Jang Ho;
    • Oh, Hyunhee;
    • Tamori, Yoshikazu;
    • Zingaretti, Cristina M.;
    • Cinti, Saverio;
    • Argente, Jesús;
    • Yu, Miao;
    • Wu, Lizhen;
    • Ju, Shenghong;
    • Guan, Feifei;
    • Yang, Hongyuan;
    • Choi, Cheol Soo;
    • Savage, David B.
    Publication type:
    Article
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    Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

    Published in:
    2018
    By:
    • Lotta, Luca A.;
    • Wittemans, Laura B. L.;
    • Zuber, Verena;
    • Stewart, Isobel D.;
    • Sharp, Stephen J.;
    • Luan, Jian'an;
    • Day, Felix R.;
    • Li, Chen;
    • Bowker, Nicholas;
    • Cai, Lina;
    • De Lucia Rolfe, Emanuella;
    • Khaw, Kay-Tee;
    • Perry, John R. B.;
    • O'Rahilly, Stephen;
    • Scott, Robert A.;
    • Savage, David B.;
    • Burgess, Stephen;
    • Wareham, Nicholas J.;
    • Langenberg, Claudia
    Publication type:
    journal article
    26

    Seipin is required for converting nascent to mature lipid droplets.

    Published in:
    eLife, 2016, p. 1, doi. 10.7554/eLife.16582
    By:
    • Huajin Wang;
    • Becuwe, Michel;
    • Housden, Benjamin E.;
    • Chitraju, Chandramohan;
    • Porras, Ashley J.;
    • Graham, Morven M.;
    • Liu, Xinran N.;
    • Thiam, Abdou Rachid;
    • Savage, David B.;
    • Agarwal, Anil K.;
    • Garg, Abhimanyu;
    • Olarte, Maria-Jesus;
    • Qingqing Lin;
    • Fröhlich, Florian;
    • Hannibal-Bach, Hans Kristian;
    • Upadhyayula, Srigokul;
    • Perrimon, Norbert;
    • Kirchhausen, Tomas;
    • Ejsing, Christer S.;
    • Walther, Tobias C.
    Publication type:
    Article
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    An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

    Published in:
    Nature Genetics, 2013, v. 45, n. 8, p. 947, doi. 10.1038/ng.2670
    By:
    • Weedon, Michael N;
    • Ellard, Sian;
    • Prindle, Marc J;
    • Caswell, Richard;
    • Allen, Hana Lango;
    • Oram, Richard;
    • Godbole, Koumudi;
    • Yajnik, Chittaranjan S;
    • Sbraccia, Paolo;
    • Novelli, Giuseppe;
    • Turnpenny, Peter;
    • McCann, Emma;
    • Goh, Kim Jee;
    • Wang, Yukai;
    • Fulford, Jonathan;
    • McCulloch, Laura J;
    • Savage, David B;
    • O'Rahilly, Stephen;
    • Kos, Katarina;
    • Loeb, Lawrence A
    Publication type:
    Article
    31

    Complement abnormalities in acquired lipodystrophy revisited.

    Published in:
    2009
    By:
    • Savage, David B;
    • Semple, Robert K;
    • Clatworthy, Menna R;
    • Lyons, Paul A;
    • Morgan, B Paul;
    • Cochran, Elaine K;
    • Gorden, Phillip;
    • Raymond-Barker, Philippa;
    • Murgatroyd, Peter R;
    • Adams, Claire;
    • Scobie, Ian;
    • Mufti, Ghulam J;
    • Alexander, Graeme J M;
    • Thiru, Sathia;
    • Murano, Incoronata;
    • Cinti, Saverio;
    • Chaudhry, Afzal N;
    • Smith, Kenneth G C;
    • O'Rahilly, Stephen
    Publication type:
    journal article
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    Proteinuric Nephropathy in Acquired and Congenital Generalized Lipodystrophy: Baseline Characteristics and Course during Recombinant Leptin Therapy.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3199, doi. 10.1210/jc.2003-032140
    By:
    • JAVOR, EDWARD D.;
    • ANN MORAN, STEPHANIE;
    • YOUNG, JANICE RYAN;
    • COCHRAN, ELAINE K.;
    • DEPAOLI, ALEX M.;
    • ORAL, ELIF ARIOGLU;
    • TURMAN, MARTIN A.;
    • BLACKETT, PIERS R.;
    • SAVAGE, DAVID B.;
    • O’RAHILLY, STEPHEN;
    • BALOW, JAMES E.;
    • GORDEN, PHILLIP
    Publication type:
    Article
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    Loss of Mfn1 but not Mfn2 enhances adipogenesis.

    Published in:
    PLoS ONE, 2024, v. 19, n. 12, p. 1, doi. 10.1371/journal.pone.0306243
    By:
    • Mann, Jake P.;
    • Tábara, Luis Carlos;
    • Patel, Satish;
    • Pushpa, Pushpa;
    • Alvarez-Guaita, Anna;
    • Dong, Liang;
    • Haider, Afreen;
    • Lim, Koini;
    • Tandon, Panna;
    • Scurria, Fabio;
    • Minchin, James E. N.;
    • O'Rahilly S., Stephen;
    • Fazakerley, Daniel J.;
    • Prudent, Julien;
    • Semple, Robert K.;
    • Savage, David B.
    Publication type:
    Article
    40

    Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy.

    Published in:
    Diabetes, 2015, v. 64, n. 1, p. 299, doi. 10.2337/db14-0104
    By:
    • Kozusko, Kristina;
    • Tsang, Venessa H. M.;
    • Bottomley, William;
    • Yoon-Hi Cho;
    • Gandotra, Sheetal;
    • Mimmack, Michael;
    • Koini Lim;
    • Isaac, Iona;
    • Patel, Satish;
    • Saudek, Vladimir;
    • O'Rahilly, Stephen;
    • Srinivasan, Shubha;
    • Greenfield, Jerry R.;
    • Barroso, Ines;
    • Campbell, Lesley V.;
    • Savage, David B.
    Publication type:
    Article
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    Mitochondrial dysfunction in patients with primary congenital insulin resistance.

    Published in:
    2011
    By:
    • Sleigh, Alison;
    • Raymond-Barker, Philippa;
    • Thackray, Kerrie;
    • Porter, David;
    • Hatunic, Mensud;
    • Vottero, Alessandra;
    • Burren, Christine;
    • Mitchell, Catherine;
    • McIntyre, Martin;
    • Brage, Soren;
    • Carpenter, T. Adrian;
    • Murgatroyd, Peter R.;
    • Brindle, Kevin M.;
    • Kemp, Graham J.;
    • O'Rahilly, Stephen;
    • Semple, Robert K.;
    • Savage, David B.
    Publication type:
    journal article
    48

    Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.

    Published in:
    2010
    By:
    • Mitchell, Catherine S.;
    • Savage, David B.;
    • Dufour, Sylvie;
    • Schoenmakers, Nadia;
    • Murgatroyd, Peter;
    • Befroy, Douglas;
    • Halsall, David;
    • Northcott, Samantha;
    • Raymond-Barker, Philippa;
    • Curran, Suzanne;
    • Henning, Elana;
    • Keogh, Julia;
    • Owen, Penny;
    • Lazarus, John;
    • Rothman, Douglas L.;
    • Farooqi, I. Sadaf;
    • Shulman, Gerald I.;
    • Chatterjee, Krishna;
    • Petersen, Kitt Falk
    Publication type:
    journal article
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