PubMed

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK.

J Clin Endocrinol Metab. 2009 Oct;94(10):3633-9. Epub 2009 Sep 15.PMID: 19755480 [PubMed - indexed for MEDLINE]Related articles

The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions.

Semple RK, Kemal Topaloglu A.

Clin Endocrinol (Oxf). 2009 Aug 29. [Epub ahead of print]PMID: 19719764 [PubMed - as supplied by publisher]Related articles

From bending DNA to diabetes: the curious case of HMGA1.

Semple RK.

J Biol. 2009;8(7):64. Epub 2009 Jul 27. Review.PMID: 19664187 [PubMed - indexed for MEDLINE]Related articlesFree article

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

Dash S, Sano H, Rochford JJ, Semple RK, Yeo G, Hyden CS, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett KA, Tung YC, Wareham NJ, Barroso I, Lienhard GE, O'Rahilly S, Savage DB.

Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9350-5. Epub 2009 May 22.PMID: 19470471 [PubMed - indexed for MEDLINE]Related articles

Autoimmune forms of hypoglycemia.

Lupsa BC, Chong AY, Cochran EK, Soos MA, Semple RK, Gorden P.

Medicine (Baltimore). 2009 May;88(3):141-53. Review.PMID: 19440117 [PubMed - indexed for MEDLINE]Related articles

IRS2 variants and syndromes of severe insulin resistance.

Bottomley WE, Soos MA, Adams C, Guran T, Howlett TA, Mackie A, Miell J, Monson JP, Temple R, Tenenbaum-Rakover Y, Tymms J, Savage DB, Semple RK, O'Rahilly S, Barroso I.

Diabetologia. 2009 Jun;52(6):1208-11. Epub 2009 Apr 18. No abstract available. PMID: 19377890 [PubMed - indexed for MEDLINE]Related articles

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.

Semple RK, Sleigh A, Murgatroyd PR, Adams CA, Bluck L, Jackson S, Vottero A, Kanabar D, Charlton-Menys V, Durrington P, Soos MA, Carpenter TA, Lomas DJ, Cochran EK, Gorden P, O'Rahilly S, Savage DB.

J Clin Invest. 2009 Feb;119(2):315-22. doi: 10.1172/JCI37432. Epub 2009 Jan 26.PMID: 19164855 [PubMed - indexed for MEDLINE]Related articlesFree article

Severe insulin resistance due to anti-insulin antibodies: response to plasma exchange and immunosuppressive therapy.

Greenfield JR, Tuthill A, Soos MA, Semple RK, Halsall DJ, Chaudhry A, O'Rahilly S.

Diabet Med. 2009 Jan;26(1):79-82.PMID: 19125765 [PubMed - indexed for MEDLINE]Related articles

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK.

Nat Genet. 2009 Mar;41(3):354-8. Epub 2008 Dec 11.PMID: 19079066 [PubMed - indexed for MEDLINE]Related articles

Complement abnormalities in acquired lipodystrophy revisited.

Savage DB, Semple RK, Clatworthy MR, Lyons PA, Morgan BP, Cochran EK, Gorden P, Raymond-Barker P, Murgatroyd PR, Adams C, Scobie I, Mufti GJ, Alexander GJ, Thiru S, Murano I, Cinti S, Chaudhry AN, Smith KG, O'Rahilly S.

J Clin Endocrinol Metab. 2009 Jan;94(1):10-6. Epub 2008 Oct 14.PMID: 18854390 [PubMed - indexed for MEDLINE]Related articles

Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.

Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O'Rahilly S, Pasquali R.

Eur J Endocrinol. 2008 Sep;159(3):347-53.PMID: 18728124 [PubMed - indexed for MEDLINE]Related articlesFree article

The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.

Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, Dalla Nora E, Semple RK, O'Rahilly S, Rochford JJ.

Diabetes. 2008 Aug;57(8):2055-60. Epub 2008 May 5.PMID: 18458148 [PubMed - indexed for MEDLINE]Related articlesFree article

Plasma adiponectin as a marker of insulin receptor dysfunction: clinical utility in severe insulin resistance.

Semple RK, Cochran EK, Soos MA, Burling KA, Savage DB, Gorden P, O'Rahilly S.

Diabetes Care. 2008 May;31(5):977-9. Epub 2008 Feb 25.PMID: 18299442 [PubMed - indexed for MEDLINE]Related articlesFree article

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J.

J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. Epub 2008 Jan 22.PMID: 18211975 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. Epub 2008 Jan 3.PMID: 18174396 [PubMed - indexed for MEDLINE]Related articlesFree article

A clinical approach to severe insulin resistance.

Savage DB, Semple RK, Chatterjee VK, Wales JK, Ross RJ, O'Rahilly S.

Endocr Dev. 2007;11:122-32. Review.PMID: 17986832 [PubMed - indexed for MEDLINE]Related articles

Serotonin 2C receptor agonists improve type 2 diabetes via melanocortin-4 receptor signaling pathways.

Zhou L, Sutton GM, Rochford JJ, Semple RK, Lam DD, Oksanen LJ, Thornton-Jones ZD, Clifton PG, Yueh CY, Evans ML, McCrimmon RJ, Elmquist JK, Butler AA, Heisler LK.

Cell Metab. 2007 Nov;6(5):398-405.PMID: 17983585 [PubMed - indexed for MEDLINE]Related articlesFree article

IGF-I treatment of insulin resistance.

McDonald A, Williams RM, Regan FM, Semple RK, Dunger DB.

Eur J Endocrinol. 2007 Aug;157 Suppl 1:S51-6. Review.PMID: 17785698 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes.

Tan K, Kimber WA, Luan J, Soos MA, Semple RK, Wareham NJ, O'Rahilly S, Barroso I.

Diabetes. 2007 Mar;56(3):714-9.PMID: 17327441 [PubMed - indexed for MEDLINE]Related articlesFree article

Paradoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies.

Semple RK, Halberg NH, Burling K, Soos MA, Schraw T, Luan J, Cochran EK, Dunger DB, Wareham NJ, Scherer PE, Gorden P, O'Rahilly S.

Diabetes. 2007 Jun;56(6):1712-7. Epub 2007 Feb 26.PMID: 17325257 [PubMed - indexed for MEDLINE]Related articlesFree article

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations.

Collins SC, Luan J, Thompson AJ, Daly A, Semple RK, O'Rahilly S, Wareham NJ, Barroso I.

Diabetologia. 2007 Mar;50(3):555-62. Epub 2007 Jan 10.PMID: 17216283 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

Tuthill A, Semple RK, Day R, Soos MA, Sweeney E, Seymour PJ, Didi M, O'rahilly S.

Clin Endocrinol (Oxf). 2007 Jan;66(1):21-6.PMID: 17201797 [PubMed - indexed for MEDLINE]Related articles

Elevated plasma adiponectin in humans with genetically defective insulin receptors.

Semple RK, Soos MA, Luan J, Mitchell CS, Wilson JC, Gurnell M, Cochran EK, Gorden P, Chatterjee VK, Wareham NJ, O'Rahilly S.

J Clin Endocrinol Metab. 2006 Aug;91(8):3219-23. Epub 2006 May 16.PMID: 16705075 [PubMed - indexed for MEDLINE]Related articlesFree article

PPAR gamma and human metabolic disease.

Semple RK, Chatterjee VK, O'Rahilly S.

J Clin Invest. 2006 Mar;116(3):581-9. Review.PMID: 16511590 [PubMed - indexed for MEDLINE]Related articlesFree article

A dominant negative human peroxisome proliferator-activated receptor (PPAR){alpha} is a constitutive transcriptional corepressor and inhibits signaling through all PPAR isoforms.

Semple RK, Meirhaeghe A, Vidal-Puig AJ, Schwabe JW, Wiggins D, Gibbons GF, Gurnell M, Chatterjee VK, O'Rahilly S.

Endocrinology. 2005 Apr;146(4):1871-82. Epub 2005 Jan 20.PMID: 15661858 [PubMed - indexed for MEDLINE]Related articlesFree article

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'rahilly S, Aparicio SA.

J Clin Endocrinol Metab. 2005 Mar;90(3):1849-55. Epub 2004 Dec 14.PMID: 15598687 [PubMed - indexed for MEDLINE]Related articlesFree article

ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis.

Rochford JJ, Semple RK, Laudes M, Boyle KB, Christodoulides C, Mulligan C, Lelliott CJ, Schinner S, Hadaschik D, Mahadevan M, Sethi JK, Vidal-Puig A, O'Rahilly S.

Mol Cell Biol. 2004 Nov;24(22):9863-72.PMID: 15509789 [PubMed - indexed for MEDLINE]Related articlesFree article

Severe hypo-alpha-lipoproteinemia during treatment with rosiglitazone.

Sarker A, Semple RK, Dinneen SF, O'Rahilly S, Martin SC.

Diabetes Care. 2004 Nov;27(11):2577-80.PMID: 15504988 [PubMed - indexed for MEDLINE]Related articlesFree article

Expression of the thermogenic nuclear hormone receptor coactivator PGC-1alpha is reduced in the adipose tissue of morbidly obese subjects.

Semple RK, Crowley VC, Sewter CP, Laudes M, Christodoulides C, Considine RV, Vidal-Puig A, O'Rahilly S.

Int J Obes Relat Metab Disord. 2004 Jan;28(1):176-9.PMID: 14557831 [PubMed - indexed for MEDLINE]Related articles