O'Rahilly S - Search Results

1

An activating mutation of AKT2 and human hypoglycemia.

Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK. Hussain K, et al. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6. Science. 2011. PMID: 21979934 Free PMC article.

2

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

George S, Rochford JJ, Wolfrum C, Gray SL, Schinner S, Wilson JC, Soos MA, Murgatroyd PR, Williams RM, Acerini CL, Dunger DB, Barford D, Umpleby AM, Wareham NJ, Davies HA, Schafer AJ, Stoffel M, O'Rahilly S, Barroso I. George S, et al. Science. 2004 May 28;304(5675):1325-8. doi: 10.1126/science.1096706. Science. 2004. PMID: 15166380 Free PMC article.

3

Genetic factors in type 2 diabetes: the end of the beginning?

O'Rahilly S, Barroso I, Wareham NJ. O'Rahilly S, et al. Science. 2005 Jan 21;307(5708):370-3. doi: 10.1126/science.1104346. Science. 2005. PMID: 15662000

4

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. Collins SC, et al. Diabetologia. 2007 Mar;50(3):555-62. doi: 10.1007/s00125-006-0534-7. Epub 2007 Jan 10. Diabetologia. 2007. PMID: 17216283 Free PMC article.

5

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

Kirk J, Porter KM, Parker V, Barroso I, O'Rahilly S, Hendriksz C, Semple RK. Kirk J, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S227-32. doi: 10.1007/s10545-010-9107-5. Epub 2010 Jun 3. J Inherit Metab Dis. 2010. PMID: 20521171 Free PMC article.

6

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. Tuthill A, et al. Clin Endocrinol (Oxf). 2007 Jan;66(1):21-6. doi: 10.1111/j.1365-2265.2006.02678.x. Clin Endocrinol (Oxf). 2007. PMID: 17201797

7

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.

Raffan E, Soos MA, Rocha N, Tuthill A, Thomsen AR, Hyden CS, Gregory JW, Hindmarsh P, Dattani M, Cochran E, Al Kaabi J, Gorden P, Barroso I, Morling N, O'Rahilly S, Semple RK. Raffan E, et al. Diabetologia. 2011 May;54(5):1057-65. doi: 10.1007/s00125-011-2066-z. Epub 2011 Feb 12. Diabetologia. 2011. PMID: 21318406 Free PMC article.

8

Mechanistic insights into insulin resistance in the genetic era.

Parker VE, Savage DB, O'Rahilly S, Semple RK. Parker VE, et al. Diabet Med. 2011 Dec;28(12):1476-86. doi: 10.1111/j.1464-5491.2011.03463.x. Diabet Med. 2011. PMID: 21992440 Review.

9

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. Kozusko K, et al. Diabetes. 2015 Jan;64(1):299-310. doi: 10.2337/db14-0104. Epub 2014 Aug 11. Diabetes. 2015. PMID: 25114292 Free PMC article.

10

Leptin therapy in lipodystrophy.

Savage DB, O'Rahilly S. Savage DB, et al. Diabetologia. 2010 Jan;53(1):7-9. doi: 10.1007/s00125-009-1545-y. Epub 2009 Oct 4. Diabetologia. 2010. PMID: 19802712 No abstract available.

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