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Items: 1 to 50 of 116

1.

Editorial: Transcriptional Regulation of Glucose Metabolism: Gaps and Controversies.

Brunetti A, Arcidiacono B, Foti DP, Semple RK.

Front Endocrinol (Lausanne). 2019 Sep 18;10:629. doi: 10.3389/fendo.2019.00629. eCollection 2019. No abstract available.

2.

Luminescent peptide tagging enables efficient screening for CRISPR-mediated knock-in in human induced pluripotent stem cells.

Madsen RR, Semple RK.

Version 3. Wellcome Open Res. 2019 Jul 11 [revised 2019 Jan 1];4:37. doi: 10.12688/wellcomeopenres.15119.3. eCollection 2019.

3.

Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner.

Madsen RR, Knox RG, Pearce W, Lopez S, Mahler-Araujo B, McGranahan N, Vanhaesebroeck B, Semple RK.

Proc Natl Acad Sci U S A. 2019 Apr 23;116(17):8380-8389. doi: 10.1073/pnas.1821093116. Epub 2019 Apr 4.

4.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

5.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. No abstract available.

6.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group, Vabres P, Semple RK, Biesecker LG.

Genet Med. 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1.

7.

Combined Immunosuppressive Therapy Induces Remission in Patients With Severe Type B Insulin Resistance: A Prospective Cohort Study.

Klubo-Gwiezdzinska J, Lange M, Cochran E, Semple RK, Gewert C, Brown RJ, Gorden P.

Diabetes Care. 2018 Nov;41(11):2353-2360. doi: 10.2337/dc18-0884. Epub 2018 Sep 10.

8.

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.

Madsen RR, Vanhaesebroeck B, Semple RK.

Trends Mol Med. 2018 Oct;24(10):856-870. doi: 10.1016/j.molmed.2018.08.003. Epub 2018 Sep 6. Review.

9.

Assessment and Management of Anti-Insulin Autoantibodies in Varying Presentations of Insulin Autoimmune Syndrome.

Church D, Cardoso L, Kay RG, Williams CL, Freudenthal B, Clarke C, Harris J, Moorthy M, Karra E, Gribble FM, Reimann F, Burling K, Williams AJK, Munir A, Jones TH, Führer D, Moeller LC, Cohen M, Khoo B, Halsall D, Semple RK.

J Clin Endocrinol Metab. 2018 Oct 1;103(10):3845-3855. doi: 10.1210/jc.2018-00972.

10.

Lessons for cancer drug treatment from tackling a non-cancerous overgrowth syndrome.

Semple RK, Vanhaesebroeck B.

Nature. 2018 Jun;558(7711):523-525. doi: 10.1038/d41586-018-05365-w. No abstract available.

PMID:
29941899
11.

Evaluation of anti-insulin receptor antibodies as potential novel therapies for human insulin receptoropathy using cell culture models.

Brierley GV, Siddle K, Semple RK.

Diabetologia. 2018 Jul;61(7):1662-1675. doi: 10.1007/s00125-018-4606-2. Epub 2018 Apr 27.

12.

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.

13.

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.

Sng CCT, O'Byrne S, Prigozhin DM, Bauer MR, Harvey JC, Ruhle M, Challis BG, Lear S, Roberts LD, Workman S, Janowitz T, Magiera L, Doffinger R, Buckland MS, Jodrell DJ, Semple RK, Wilson TJ, Modis Y, Thaventhiran JED.

J Allergy Clin Immunol. 2018 Jul;142(1):311-314.e6. doi: 10.1016/j.jaci.2018.01.048. Epub 2018 Mar 6. No abstract available.

14.

Secretome Analysis of Hypoxia-Induced 3T3-L1 Adipocytes Uncovers Novel Proteins Potentially Involved in Obesity.

Laria AE, Messineo S, Arcidiacono B, Varano M, Chiefari E, Semple RK, Rocha N, Russo D, Cuda G, Gaspari M, Brunetti A, Foti DP.

Proteomics. 2018 Apr;18(7):e1700260. doi: 10.1002/pmic.201700260.

PMID:
29466620
15.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12. Erratum in: J Clin Invest. 2018 Nov 1;128(11):5185.

16.

Editorial: Are Rodent Models Fit for Investigation of Human Obesity and Related Diseases?

Even PC, Virtue S, Morton NM, Fromentin G, Semple RK.

Front Nutr. 2017 Dec 1;4:58. doi: 10.3389/fnut.2017.00058. eCollection 2017. No abstract available.

17.

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.

Rocha N, Payne F, Huang-Doran I, Sleigh A, Fawcett K, Adams C, Stears A, Saudek V, O'Rahilly S, Barroso I, Semple RK.

Sci Rep. 2017 Dec 14;7(1):17593. doi: 10.1038/s41598-017-17746-8.

18.

Vps34 PI 3-kinase inactivation enhances insulin sensitivity through reprogramming of mitochondrial metabolism.

Bilanges B, Alliouachene S, Pearce W, Morelli D, Szabadkai G, Chung YL, Chicanne G, Valet C, Hill JM, Voshol PJ, Collinson L, Peddie C, Ali K, Ghazaly E, Rajeeve V, Trichas G, Srinivas S, Chaussade C, Salamon RS, Backer JM, Scudamore CL, Whitehead MA, Keaney EP, Murphy LO, Semple RK, Payrastre B, Tooze SA, Vanhaesebroeck B.

Nat Commun. 2017 Nov 27;8(1):1804. doi: 10.1038/s41467-017-01969-4.

19.

Oncogenic PIK3CA induces centrosome amplification and tolerance to genome doubling.

Berenjeno IM, Piñeiro R, Castillo SD, Pearce W, McGranahan N, Dewhurst SM, Meniel V, Birkbak NJ, Lau E, Sansregret L, Morelli D, Kanu N, Srinivas S, Graupera M, Parker VER, Montgomery KG, Moniz LS, Scudamore CL, Phillips WA, Semple RK, Clarke A, Swanton C, Vanhaesebroeck B.

Nat Commun. 2017 Nov 24;8(1):1773. doi: 10.1038/s41467-017-02002-4.

20.

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.

Chen JH, Goh KJ, Rocha N, Groeneveld MP, Minic M, Barrett TG, Savage D, Semple RK.

Dis Model Mech. 2017 Dec 19;10(12):1411-1420. doi: 10.1242/dmm.030981.

21.

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.

22.

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Chen JH, Geberhiwot T, Barrett TG, Paisey R, Semple RK.

Mol Genet Genomic Med. 2017 May 15;5(4):390-404. doi: 10.1002/mgg3.296. eCollection 2017 Jul.

23.

AKR1C3-Mediated Adipose Androgen Generation Drives Lipotoxicity in Women With Polycystic Ovary Syndrome.

O'Reilly MW, Kempegowda P, Walsh M, Taylor AE, Manolopoulos KN, Allwood JW, Semple RK, Hebenstreit D, Dunn WB, Tomlinson JW, Arlt W.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3327-3339. doi: 10.1210/jc.2017-00947.

24.

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.

Tripolszki K, Farkas K, Sulák A, Szolnoky G, Duga B, Melegh B, Knox RG, Parker VER, Semple RK, Kemény L, Széll M, Nagy N.

Clin Exp Dermatol. 2017 Oct;42(7):763-766. doi: 10.1111/ced.13154. Epub 2017 Jun 8.

PMID:
28598037
25.

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Leiter SM, Parker VER, Welters A, Knox R, Rocha N, Clark G, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham N, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK.

Eur J Endocrinol. 2017 Aug;177(2):175-186. doi: 10.1530/EJE-17-0132. Epub 2017 May 31.

26.

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.

Minic M, Rocha N, Harris J, Groeneveld MP, Leiter S, Wareham N, Sleigh A, De Lonlay P, Hussain K, O'Rahilly S, Semple RK.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):2914-2921. doi: 10.1210/jc.2017-00768.

27.

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.

28.

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
29.

How Useful Are Monogenic Rodent Models for the Study of Human Non-Alcoholic Fatty Liver Disease?

Mann JP, Semple RK, Armstrong MJ.

Front Endocrinol (Lausanne). 2016 Nov 16;7:145. eCollection 2016. Review.

30.

Caenorhabditis elegans DAF-2 as a Model for Human Insulin Receptoropathies.

Bulger DA, Fukushige T, Yun S, Semple RK, Hanover JA, Krause MW.

G3 (Bethesda). 2017 Jan 5;7(1):257-268. doi: 10.1534/g3.116.037184.

31.

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.

32.

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.

33.

Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome.

Gathercole LL, Hazlehurst JM, Armstrong MJ, Crowley R, Boocock S, O'Reilly MW, Round M, Brown R, Bolton S, Cramb R, Newsome PN, Semple RK, Paisey R, Tomlinson JW, Geberhiwot T.

Liver Int. 2016 Nov;36(11):1704-1712. doi: 10.1111/liv.13163. Epub 2016 Jun 10.

PMID:
27178444
34.

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

Castillo SD, Tzouanacou E, Zaw-Thin M, Berenjeno IM, Parker VE, Chivite I, Milà-Guasch M, Pearce W, Solomon I, Angulo-Urarte A, Figueiredo AM, Dewhurst RE, Knox RG, Clark GR, Scudamore CL, Badar A, Kalber TL, Foster J, Stuckey DJ, David AL, Phillips WA, Lythgoe MF, Wilson V, Semple RK, Sebire NJ, Kinsler VA, Graupera M, Vanhaesebroeck B.

Sci Transl Med. 2016 Mar 30;8(332):332ra43. doi: 10.1126/scitranslmed.aad9982.

35.

Acute knockdown of the insulin receptor or its substrates Irs1 and 2 in 3T3-L1 adipocytes suppresses adiponectin production.

Groeneveld MP, Brierley GV, Rocha NM, Siddle K, Semple RK.

Sci Rep. 2016 Feb 18;6:21105. doi: 10.1038/srep21105.

36.

EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons.

Semple RK.

Eur J Endocrinol. 2016 May;174(5):R209-23. doi: 10.1530/EJE-15-1131. Epub 2016 Feb 10. Review.

PMID:
26865583
37.

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.

38.

Phosphoinositide 3-kinase-related overgrowth: cellular phenotype and future therapeutic options.

Parker VE, Knox RG, Zhang Q, Wakelam MJ, Semple RK.

Lancet. 2015 Feb 26;385 Suppl 1:S77. doi: 10.1016/S0140-6736(15)60392-0.

PMID:
26312899
39.

Growth and hormone profiling in children with congenital melanocytic naevi.

Waelchli R, Williams J, Cole T, Dattani M, Hindmarsh P, Kennedy H, Martinez A, Khan S, Semple RK, White A, Sebire N, Healy E, Moore G, Kinsler VA.

Br J Dermatol. 2015 Dec;173(6):1471-8. doi: 10.1111/bjd.14091. Epub 2015 Nov 17. Erratum in: Br J Dermatol. 2016 Jul;175(1):226-7.

40.

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.

41.

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.

Carmody D, Ladsaria SS, Buikema RK, Semple RK, Greeley SA.

Diabet Med. 2016 Mar;33(3):e8-e12. doi: 10.1111/dme.12884.

42.

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.

43.

Successful treatment of type B insulin resistance with rituximab.

Manikas ED, Isaac I, Semple RK, Malek R, Führer D, Moeller LC.

J Clin Endocrinol Metab. 2015 May;100(5):1719-22. doi: 10.1210/jc.2014-3552. Epub 2015 Feb 12.

44.

Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance.

Murphy R, Smith G, Isaac I, Hutchinson D, Semple RK.

Diabet Med. 2015 Oct;32(10):e24-8. doi: 10.1111/dme.12707.

PMID:
25644898
45.

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.

Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.

46.

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.

Simpkin A, Cochran E, Cameron F, Dattani M, de Bock M, Dunger DB, Forsander G, Guran T, Harris J, Isaac I, Hussain K, Kleta R, Peters C, Tasic V, Williams R, Yap Kok Peng F, O''Rahilly S, Gorden P, Semple RK, Bockenhauer D.

Nephron Physiol. 2014;128(3-4):55-61. doi: 10.1159/000366225. Epub 2014 Oct 24.

47.

Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes.

Yaghootkar H, Scott RA, White CC, Zhang W, Speliotes E, Munroe PB, Ehret GB, Bis JC, Fox CS, Walker M, Borecki IB, Knowles JW, Yerges-Armstrong L, Ohlsson C, Perry JR, Chambers JC, Kooner JS, Franceschini N, Langenberg C, Hivert MF, Dastani Z, Richards JB, Semple RK, Frayling TM.

Diabetes. 2014 Dec;63(12):4369-77. doi: 10.2337/db14-0318. Epub 2014 Jul 21.

48.

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.

49.

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.

Challis BG, Harris J, Sleigh A, Isaac I, Orme SM, Seevaratnam N, Dhatariya K, Simpson HL, Semple RK.

Clin Endocrinol (Oxf). 2014 Dec;81(6):855-61. doi: 10.1111/cen.12517. Epub 2014 Jul 2.

50.

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.

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