Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Pearce, LR"'
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation
Autor:
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ, UK10K consortium, O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS, Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ, UK10K consortium, O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS
Publikováno v:
Cell.
Autor:
Moore, Anthony, Borman, AD, Pearce, LR, Mackay, DS, Nagel-Wolfrum, K, Davidson, AE, Henderson, R, Garg, S, Waseem, NH, Webster, AR, Plagnol, V
Publikováno v:
Moore, Anthony; Borman, AD; Pearce, LR; Mackay, DS; Nagel-Wolfrum, K; Davidson, AE; et al.(2014). A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/2cs25499
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::26c428c64b7c5515a2ee159305d7bf77
http://www.escholarship.org/uc/item/2cs25499
http://www.escholarship.org/uc/item/2cs25499
Autor:
Pearce LR; University of Cambridge Metabolic Research Laboratories and National Institute for Health Research Cambridge Biomedical Research Centre (L.R.P., J.M.K., E.H., E.G.B., S.G., S.Sa., S.O., I.B., I.S.F.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, CB2 0QQ United Kingdom; Graduate Program in Cellular and Molecular Biology (R.J., C.C.-S.), Department of Molecular and Integrative Physiology (M.E.D., H.-W.S., L.S.A., J.M.C., L.R., C.C.-S.), and Division of Metabolism, Endocrinology, and Diabetes (C.C.-S.), Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48109-5622; Joslin Diabetes Center and Department of Medicine (S.Sh.), Harvard University, Boston, Massachusetts 02115; and Wellcome Trust Sanger Institute (I.B.), Hinxton, CB10 1SA United Kingdom., Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, Farooqi IS, Carter-Su C
Publikováno v:
Endocrinology [Endocrinology] 2014 Sep; Vol. 155 (9), pp. 3219-26. Date of Electronic Publication: 2014 Jun 27.
Autor:
Borman AD; Moorfield's Eye Hospital, London, EC1C 2PD, UK; Institute of Ophthalmology, London, EC1V 9EL, UK., Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT
Publikováno v:
Human mutation [Hum Mutat] 2014 Mar; Vol. 35 (3), pp. 289-93. Date of Electronic Publication: 2013 Dec 20.
Autor:
Doche ME; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan 48109-5622, USA., Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2012 Dec; Vol. 122 (12), pp. 4732-6. Date of Electronic Publication: 2012 Nov 19.
Autor:
Pearce LR; MRC Protein Phosphorylation Unit, College of Life Sciences, University of Dundee, Dundee DD1 5EH, Scotland, UK., Sommer EM, Sakamoto K, Wullschleger S, Alessi DR
Publikováno v:
The Biochemical journal [Biochem J] 2011 May 15; Vol. 436 (1), pp. 169-79.
Autor:
Pearce LR; MRC Protein Phosphorylation Unit, College of Life Sciences, University of Dundee, Dow Street, Dundee, Scotland, U.K. l.r.pearce@dundee.ac.uk, Alton GR, Richter DT, Kath JC, Lingardo L, Chapman J, Hwang C, Alessi DR
Publikováno v:
The Biochemical journal [Biochem J] 2010 Oct 15; Vol. 431 (2), pp. 245-55.
Autor:
Pearce LR; MRC Protein Phosphorylation Unit, College of Life Sciences, University of Dundee, Dundee DD1 5EH, UK. L.R.Pearce@dundee.ac.uk, Komander D, Alessi DR
Publikováno v:
Nature reviews. Molecular cell biology [Nat Rev Mol Cell Biol] 2010 Jan; Vol. 11 (1), pp. 9-22.
Autor:
Alessi DR; MRC Protein Phosphorylation Unit, College of Life Sciences, University of Dundee, Dow Street, Dundee DD15EH, Scotland, UK. d.r.alessi@dundee.ac.uk, Pearce LR, García-Martínez JM
Publikováno v:
Science signaling [Sci Signal] 2009 Apr 21; Vol. 2 (67), pp. pe27. Date of Electronic Publication: 2009 Apr 21.
Autor:
Pearce LR; MRC Protein Phosphorylation Unit, School of Life Sciences, MSI/WTB Complex, University of Dundee, Dundee DD1 5EH, Scotland, UK. l.r.pearce@dundee.ac.uk)., Huang X, Boudeau J, Pawłowski R, Wullschleger S, Deak M, Ibrahim AF, Gourlay R, Magnuson MA, Alessi DR
Publikováno v:
The Biochemical journal [Biochem J] 2007 Aug 01; Vol. 405 (3), pp. 513-22.