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Items: 1 to 50 of 101

1.

Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy.

Oral EA, Gorden P, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Brown RJ.

Endocrine. 2019 Feb 25. doi: 10.1007/s12020-019-01862-8. [Epub ahead of print]

PMID:
30805888
2.

Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.

Broekema MF, Savage DB, Monajemi H, Kalkhoven E.

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 May;1864(5):715-732. doi: 10.1016/j.bbalip.2019.02.002. Epub 2019 Feb 8. Review.

3.

Dual binding motifs underpin the hierarchical association of perilipins1-3 with lipid droplets.

Ajjaji D, Ben M'barek K, Mimmack ML, England C, Herscovitz H, Dong L, Kay RG, Patel S, Saudek V, Small DM, Savage DB, Thiam AR.

Mol Biol Cell. 2019 Mar 1;30(5):703-716. doi: 10.1091/mbc.E18-08-0534. Epub 2019 Jan 16.

PMID:
30649995
4.

GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans.

Patel S, Alvarez-Guaita A, Melvin A, Rimmington D, Dattilo A, Miedzybrodzka EL, Cimino I, Maurin AC, Roberts GP, Meek CL, Virtue S, Sparks LM, Parsons SA, Redman LM, Bray GA, Liou AP, Woods RM, Parry SA, Jeppesen PB, Kolnes AJ, Harding HP, Ron D, Vidal-Puig A, Reimann F, Gribble FM, Hulston CJ, Farooqi IS, Fafournoux P, Smith SR, Jensen J, Breen D, Wu Z, Zhang BB, Coll AP, Savage DB, O'Rahilly S.

Cell Metab. 2019 Mar 5;29(3):707-718.e8. doi: 10.1016/j.cmet.2018.12.016. Epub 2019 Jan 10.

5.

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

Lotta LA, Wittemans LBL, Zuber V, Stewart ID, Sharp SJ, Luan J, Day FR, Li C, Bowker N, Cai L, De Lucia Rolfe E, Khaw KT, Perry JRB, O'Rahilly S, Scott RA, Savage DB, Burgess S, Wareham NJ, Langenberg C.

JAMA. 2018 Dec 25;320(24):2553-2563. doi: 10.1001/jama.2018.19329.

PMID:
30575882
6.

European paediatric non-alcoholic fatty liver disease registry (EU-PNAFLD): Design and rationale.

Mann JP, Vreugdenhil A, Socha P, Jańczyk W, Baumann U, Rajwal S, Casswall T, Marcus C, van Mourik I, O'Rahilly S, Savage DB, Noble-Jamieson G, Lacaille F, Dabbas M, Dubern B, Kelly DA, Nobili V, Anstee QM.

Contemp Clin Trials. 2018 Dec;75:67-71. doi: 10.1016/j.cct.2018.11.003. Epub 2018 Nov 5.

PMID:
30408605
7.

PPARγΔ5, a Naturally Occurring Dominant-Negative Splice Isoform, Impairs PPARγ Function and Adipocyte Differentiation.

Aprile M, Cataldi S, Ambrosio MR, D'Esposito V, Lim K, Dietrich A, Blüher M, Savage DB, Formisano P, Ciccodicola A, Costa V.

Cell Rep. 2018 Nov 6;25(6):1577-1592.e6. doi: 10.1016/j.celrep.2018.10.035.

8.

Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Lotta LA, Stewart ID, Sharp SJ, Day FR, Burgess S, Luan J, Bowker N, Cai L, Li C, Wittemans LBL, Kerrison ND, Khaw KT, McCarthy MI, O'Rahilly S, Scott RA, Savage DB, Perry JRB, Langenberg C, Wareham NJ.

JAMA Cardiol. 2018 Oct 1;3(10):957-966. doi: 10.1001/jamacardio.2018.2866.

9.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662.

10.

Surplus fat rapidly increases fat oxidation and insulin resistance in lipodystrophic mice.

Girousse A, Virtue S, Hart D, Vidal-Puig A, Murgatroyd PR, Mouisel E, Sengenès C, Savage DB.

Mol Metab. 2018 Jul;13:24-29. doi: 10.1016/j.molmet.2018.05.006. Epub 2018 May 16.

11.

PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress.

Haider A, Wei YC, Lim K, Barbosa AD, Liu CH, Weber U, Mlodzik M, Oras K, Collier S, Hussain MM, Dong L, Patel S, Alvarez-Guaita A, Saudek V, Jenkins BJ, Koulman A, Dymond MK, Hardie RC, Siniossoglou S, Savage DB.

Dev Cell. 2018 May 21;45(4):481-495.e8. doi: 10.1016/j.devcel.2018.04.012. Epub 2018 May 10.

12.

Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy.

Brown RJ, Oral EA, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Gorden P.

Endocrine. 2018 Jun;60(3):479-489. doi: 10.1007/s12020-018-1589-1. Epub 2018 Apr 12.

PMID:
29644599
13.

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.

Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB.

Diabetes. 2018 Jun;67(6):1086-1092. doi: 10.2337/db17-1236. Epub 2018 Apr 5.

14.

Genetic syndromes of severe insulin resistance.

Melvin A, O'Rahilly S, Savage DB.

Curr Opin Genet Dev. 2018 Jun;50:60-67. doi: 10.1016/j.gde.2018.02.002. Epub 2018 Feb 22. Review.

PMID:
29477938
15.

Compositional marker in vivo reveals intramyocellular lipid turnover during fasting-induced lipolysis.

Thankamony A, Kemp GJ, Koulman A, Bokii V, Savage DB, Boesch C, Hodson L, Dunger DB, Sleigh A.

Sci Rep. 2018 Feb 9;8(1):2750. doi: 10.1038/s41598-018-21170-x.

16.

Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1.

Melvin A, Adams C, Flanagan C, Gaff L, Gratton B, Gribble F, Roberts G, Semple RK, O'Rahilly S, Rubino F, Stears A, Savage DB.

J Clin Endocrinol Metab. 2017 Oct 1;102(10):3616-3620. doi: 10.1210/jc.2017-01235.

17.

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK.

Elife. 2017 Apr 19;6. pii: e23813. doi: 10.7554/eLife.23813.

18.

Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, Rolfe EL, Stewart ID, Wheeler E, Willems SM, Adams C, Yaghootkar H; EPIC-InterAct Consortium; Cambridge FPLD1 Consortium, Forouhi NG, Khaw KT, Johnson AD, Semple RK, Frayling T, Perry JR, Dermitzakis E, McCarthy MI, Barroso I, Wareham NJ, Savage DB, Langenberg C, O'Rahilly S, Scott RA.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317c. No abstract available.

PMID:
28138151
19.

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

Lotta LA, Scott RA, Sharp SJ, Burgess S, Luan J, Tillin T, Schmidt AF, Imamura F, Stewart ID, Perry JR, Marney L, Koulman A, Karoly ED, Forouhi NG, Sjögren RJ, Näslund E, Zierath JR, Krook A, Savage DB, Griffin JL, Chaturvedi N, Hingorani AD, Khaw KT, Barroso I, McCarthy MI, O'Rahilly S, Wareham NJ, Langenberg C.

PLoS Med. 2016 Nov 29;13(11):e1002179. doi: 10.1371/journal.pmed.1002179. eCollection 2016 Nov.

20.

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, De Lucia Rolfe E, Stewart ID, Wheeler E, Willems SM, Adams C, Yaghootkar H; EPIC-InterAct Consortium; Cambridge FPLD1 Consortium, Forouhi NG, Khaw KT, Johnson AD, Semple RK, Frayling T, Perry JR, Dermitzakis E, McCarthy MI, Barroso I, Wareham NJ, Savage DB, Langenberg C, O'Rahilly S, Scott RA.

Nat Genet. 2017 Jan;49(1):17-26. doi: 10.1038/ng.3714. Epub 2016 Nov 14.

21.

Prospective functional classification of all possible missense variants in PPARG.

Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, Ellard S; UK Monogenic Diabetes Consortium, Kathiresan S; Myocardial Infarction Genetics Consortium, O'Rahilly S; UK Congenital Lipodystrophy Consortium, Chatterjee K, Florez JC, Mikkelsen T, Savage DB, Altshuler D.

Nat Genet. 2016 Dec;48(12):1570-1575. doi: 10.1038/ng.3700. Epub 2016 Oct 17.

22.

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A, Bottomley W, Harris J, Daly A, Rocha N, Rudge S, Clark J, Kwok A, Romeo S, McCann E, Müksch B, Dattani M, Zucchini S, Wakelam M, Foukas LC, Savage DB, Murphy R, O'Rahilly S, Barroso I, Semple RK.

JCI Insight. 2016 Oct 20;1(17):e88766. doi: 10.1172/jci.insight.88766.

23.

Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis.

Lotta LA, Sharp SJ, Burgess S, Perry JRB, Stewart ID, Willems SM, Luan J, Ardanaz E, Arriola L, Balkau B, Boeing H, Deloukas P, Forouhi NG, Franks PW, Grioni S, Kaaks R, Key TJ, Navarro C, Nilsson PM, Overvad K, Palli D, Panico S, Quirós JR, Riboli E, Rolandsson O, Sacerdote C, Salamanca EC, Slimani N, Spijkerman AM, Tjonneland A, Tumino R, van der A DL, van der Schouw YT, McCarthy MI, Barroso I, O'Rahilly S, Savage DB, Sattar N, Langenberg C, Scott RA, Wareham NJ.

JAMA. 2016 Oct 4;316(13):1383-1391. doi: 10.1001/jama.2016.14568.

24.

Seipin is required for converting nascent to mature lipid droplets.

Wang H, Becuwe M, Housden BE, Chitraju C, Porras AJ, Graham MM, Liu XN, Thiam AR, Savage DB, Agarwal AK, Garg A, Olarte MJ, Lin Q, Fröhlich F, Hannibal-Bach HK, Upadhyayula S, Perrimon N, Kirchhausen T, Ejsing CS, Walther TC, Farese RV.

Elife. 2016 Aug 26;5. pii: e16582. doi: 10.7554/eLife.16582.

25.

Use of body linear measurements to estimate liveweight of crossbred dairy cattle in smallholder farms in Kenya.

Lukuyu MN, Gibson JP, Savage DB, Duncan AJ, Mujibi FD, Okeyo AM.

Springerplus. 2016 Jan 22;5:63. doi: 10.1186/s40064-016-1698-3. eCollection 2016.

26.

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.

Kilpeläinen TO, Carli JF, Skowronski AA, Sun Q, Kriebel J, Feitosa MF, Hedman ÅK, Drong AW, Hayes JE, Zhao J, Pers TH, Schick U, Grarup N, Kutalik Z, Trompet S, Mangino M, Kristiansson K, Beekman M, Lyytikäinen LP, Eriksson J, Henneman P, Lahti J, Tanaka T, Luan J, Del Greco M F, Pasko D, Renström F, Willems SM, Mahajan A, Rose LM, Guo X, Liu Y, Kleber ME, Pérusse L, Gaunt T, Ahluwalia TS, Ju Sung Y, Ramos YF, Amin N, Amuzu A, Barroso I, Bellis C, Blangero J, Buckley BM, Böhringer S, I Chen YD, de Craen AJ, Crosslin DR, Dale CE, Dastani Z, Day FR, Deelen J, Delgado GE, Demirkan A, Finucane FM, Ford I, Garcia ME, Gieger C, Gustafsson S, Hallmans G, Hankinson SE, Havulinna AS, Herder C, Hernandez D, Hicks AA, Hunter DJ, Illig T, Ingelsson E, Ioan-Facsinay A, Jansson JO, Jenny NS, Jørgensen ME, Jørgensen T, Karlsson M, Koenig W, Kraft P, Kwekkeboom J, Laatikainen T, Ladwig KH, LeDuc CA, Lowe G, Lu Y, Marques-Vidal P, Meisinger C, Menni C, Morris AP, Myers RH, Männistö S, Nalls MA, Paternoster L, Peters A, Pradhan AD, Rankinen T, Rasmussen-Torvik LJ, Rathmann W, Rice TK, Brent Richards J, Ridker PM, Sattar N, Savage DB, Söderberg S, Timpson NJ, Vandenput L, van Heemst D, Uh HW, Vohl MC, Walker M, Wichmann HE, Widén E, Wood AR, Yao J, Zeller T, Zhang Y, Meulenbelt I, Kloppenburg M, Astrup A, Sørensen TI, Sarzynski MA, Rao DC, Jousilahti P, Vartiainen E, Hofman A, Rivadeneira F, Uitterlinden AG, Kajantie E, Osmond C, Palotie A, Eriksson JG, Heliövaara M, Knekt PB, Koskinen S, Jula A, Perola M, Huupponen RK, Viikari JS, Kähönen M, Lehtimäki T, Raitakari OT, Mellström D, Lorentzon M, Casas JP, Bandinelli S, März W, Isaacs A, van Dijk KW, van Duijn CM, Harris TB, Bouchard C, Allison MA, Chasman DI, Ohlsson C, Lind L, Scott RA, Langenberg C, Wareham NJ, Ferrucci L, Frayling TM, Pramstaller PP, Borecki IB, Waterworth DM, Bergmann S, Waeber G, Vollenweider P, Vestergaard H, Hansen T, Pedersen O, Hu FB, Eline Slagboom P, Grallert H, Spector TD, Jukema JW, Klein RJ, Schadt EE, Franks PW, Lindgren CM, Leibel RL, Loos RJ.

Nat Commun. 2016 Feb 1;7:10494. doi: 10.1038/ncomms10494.

27.

Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations.

Demir T, Onay H, Savage DB, Temeloglu E, Uzum AK, Kadioglu P, Altay C, Ozen S, Demir L, Cavdar U, Akinci B.

Diabet Med. 2016 Oct;33(10):1445-50. doi: 10.1111/dme.13061. Epub 2016 Feb 5.

PMID:
26756202
28.

Simple and effective exercise design for assessing in vivo mitochondrial function in clinical applications using (31)P magnetic resonance spectroscopy.

Sleigh A, Lupson V, Thankamony A, Dunger DB, Savage DB, Carpenter TA, Kemp GJ.

Sci Rep. 2016 Jan 11;6:19057. doi: 10.1038/srep19057.

29.

31P magnetization transfer measurements of Pi→ATP flux in exercising human muscle.

Sleigh A, Savage DB, Williams GB, Porter D, Carpenter TA, Brindle KM, Kemp GJ.

J Appl Physiol (1985). 2016 Mar 15;120(6):649-56. doi: 10.1152/japplphysiol.00871.2015. Epub 2016 Jan 7.

30.

Conserved Amphipathic Helices Mediate Lipid Droplet Targeting of Perilipins 1-3.

Rowe ER, Mimmack ML, Barbosa AD, Haider A, Isaac I, Ouberai MM, Thiam AR, Patel S, Saudek V, Siniossoglou S, Savage DB.

J Biol Chem. 2016 Mar 25;291(13):6664-78. doi: 10.1074/jbc.M115.691048. Epub 2016 Jan 7.

31.

Truncation of POC1A associated with short stature and extreme insulin resistance.

Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C; UK10K Consortium, Savage DB, O'Rahilly S, Semple RK, Barroso I.

J Mol Endocrinol. 2015 Oct;55(2):147-58. doi: 10.1530/JME-15-0090.

32.

Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes.

Eiden M, Koulman A, Hatunic M, West JA, Murfitt S, Osei M, Adams C, Wang X, Chu Y, Marney L, Roberts LD, O'Rahilly S, Semple RK, Savage DB, Griffin JL.

Genome Med. 2015 Jun 28;7:63. doi: 10.1186/s13073-015-0179-6. eCollection 2015.

33.

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.

Nead KT, Sharp SJ, Thompson DJ, Painter JN, Savage DB, Semple RK, Barker A; Australian National Endometrial Cancer Study Group (ANECS), Perry JR, Attia J, Dunning AM, Easton DF, Holliday E, Lotta LA, O'Mara T, McEvoy M, Pharoah PD, Scott RJ, Spurdle AB, Langenberg C, Wareham NJ, Scott RA.

J Natl Cancer Inst. 2015 Jul 1;107(9). pii: djv178. doi: 10.1093/jnci/djv178. Print 2015 Sep.

34.

Lipid droplet-organelle interactions: emerging roles in lipid metabolism.

Barbosa AD, Savage DB, Siniossoglou S.

Curr Opin Cell Biol. 2015 Aug;35:91-7. doi: 10.1016/j.ceb.2015.04.017. Epub 2015 May 15. Review.

PMID:
25988547
35.

The genetics of lipid storage and human lipodystrophies.

Robbins AL, Savage DB.

Trends Mol Med. 2015 Jul;21(7):433-8. doi: 10.1016/j.molmed.2015.04.004. Epub 2015 May 12. Review.

PMID:
25979754
36.

Insulin resistance and white adipose tissue inflammation are uncoupled in energetically challenged Fsp27-deficient mice.

Zhou L, Park SY, Xu L, Xia X, Ye J, Su L, Jeong KH, Hur JH, Oh H, Tamori Y, Zingaretti CM, Cinti S, Argente J, Yu M, Wu L, Ju S, Guan F, Yang H, Choi CS, Savage DB, Li P.

Nat Commun. 2015 Jan 7;6:5949. doi: 10.1038/ncomms6949.

37.

Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.

Kozusko K, Tsang V, Bottomley W, Cho YH, Gandotra S, Mimmack ML, Lim K, Isaac I, Patel S, Saudek V, O'Rahilly S, Srinivasan S, Greenfield JR, Barroso I, Campbell LV, Savage DB.

Diabetes. 2015 Jan;64(1):299-310. doi: 10.2337/db14-0104. Epub 2014 Aug 11.

38.

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity.

Scott RA, Fall T, Pasko D, Barker A, Sharp SJ, Arriola L, Balkau B, Barricarte A, Barroso I, Boeing H, Clavel-Chapelon F, Crowe FL, Dekker JM, Fagherazzi G, Ferrannini E, Forouhi NG, Franks PW, Gavrila D, Giedraitis V, Grioni S, Groop LC, Kaaks R, Key TJ, Kühn T, Lotta LA, Nilsson PM, Overvad K, Palli D, Panico S, Quirós JR, Rolandsson O, Roswall N, Sacerdote C, Sala N, Sánchez MJ, Schulze MB, Siddiq A, Slimani N, Sluijs I, Spijkerman AM, Tjonneland A, Tumino R, van der A DL, Yaghootkar H; RISC study group; EPIC-InterAct consortium, McCarthy MI, Semple RK, Riboli E, Walker M, Ingelsson E, Frayling TM, Savage DB, Langenberg C, Wareham NJ.

Diabetes. 2014 Dec;63(12):4378-4387. doi: 10.2337/db14-0319. Epub 2014 Jun 19.

39.

Perilipins 2 and 3 lack a carboxy-terminal domain present in perilipin 1 involved in sequestering ABHD5 and suppressing basal lipolysis.

Patel S, Yang W, Kozusko K, Saudek V, Savage DB.

Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9163-8. doi: 10.1073/pnas.1318791111. Epub 2014 Jun 9.

40.

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.

Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB.

Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2.

41.

An approach to quantifying abnormalities in energy expenditure and lean mass in metabolic disease.

Watson LP, Raymond-Barker P, Moran C, Schoenmakers N, Mitchell C, Bluck L, Chatterjee VK, Savage DB, Murgatroyd PR.

Eur J Clin Nutr. 2014 Feb;68(2):234-40. doi: 10.1038/ejcn.2013.237. Epub 2013 Nov 27.

42.

Acquired generalized lipodystrophy associated with peripheral T cell lymphoma with cutaneous infiltration.

Aslam A, Savage DB, Coulson IH.

Int J Dermatol. 2015 Jul;54(7):827-9. doi: 10.1111/ijd.12185. Epub 2013 Oct 29. No abstract available.

PMID:
24168394
43.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT.

Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16.

44.

Intrahepatic Lipid Content and Insulin Resistance Are More Strongly Associated with Impaired NEFA Suppression after Oral Glucose Loading Than with Fasting NEFA Levels in Healthy Older Individuals.

Finucane FM, Sharp SJ, Hatunic M, Sleigh A, De Lucia Rolfe E, Sayer AA, Cooper C, Griffin SJ, Savage DB, Wareham NJ.

Int J Endocrinol. 2013;2013:870487. doi: 10.1155/2013/870487. Epub 2013 May 2.

45.

Human congenital perilipin deficiency and insulin resistance.

Kozusko K, Patel S, Savage DB.

Endocr Dev. 2013;24:150-5. doi: 10.1159/000342511. Epub 2013 Feb 1. Review.

PMID:
23392103
46.

Anionic salts and dietary 25-hydroxyvitamin D stimulate calcium availability in steers.

McGrath JJ, Savage DB, Nolan JV, Rodgers NJ, Elliott R.

Animal. 2013 Mar;7(3):404-9. doi: 10.1017/S1751731112001887. Epub 2012 Oct 19.

PMID:
23084000
47.

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK.

Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.

48.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

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