- O'Neill JS, Reddy AB. Circadian clocks in human red blood cells. Nature. 2011;469: 498-503.
- Edgar R et al Peroxiredoxins are conserved markers of circadian rhythms. Nature 2012;485: 459–464
- 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. An activating mutation of AKT2 and human hypoglycemia. Science. 2011;334474
- Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Khadem FV, Dattani M, Farooqi IS Gurnell M, Chatterjee VK. A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012;366243-9.
-
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;44:928-33. -
Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delépine M,
Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O’Rahilly S, Magré J, Savage DB, Vigouroux C.
Perilipin deficiency and autosomal dominant partial lipodystrophy. New Eng J Med, 2011;364:740-8. -
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-
Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M,
Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D,
Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren
A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko
A, Dattani M, Gurnell M, Chatterjee K. Mutations in the selenocysteine insertion sequence-binding protein 2
gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest. 2010;120 4220-35. -
Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell C, McIntyre M,
Brage S, Carpenter TA, Murgatroyd PR, Brindle KM, Kemp GJ, O’Rahilly S, Semple RK, Savage DB.
Mitochondrial dysfunction in patients with primary congenital insulin resistance. J Clin Invest I, 2011;121:2457-
61 -
Hovorka R, Allen JM, Elleri D, Chassin LJ, Harris J, Xing D, Kollman C, Hovorka T, Larsen AM, Nodale M, De
Palma A, Wilinska ME, Acerini CL, Dunger DB. Manual closed-loop insulin delivery in children and
adolescents with type 1 diabetes: a phase 2 randomised crossover trial. Lancet 2010;375: 743-51. -
Compston JE, Watts NB, Chapurlat R, Cooper C, Boonen S, Greenspan S, Pfeilschifter J, Silverman S, Díez-
Pérez A, Lindsay R, Saag KG, Netelenbos JC, Gehlbach S, Hooven FH, Flahive J, Adachi JD, Rossini M,
Lacroix AZ, Roux C, Sambrook PN, Siris ES; Glow Investigators. Obesity is not protective against fracture in
postmenopausal women: GLOW. Am J Med. 2011;124:1043-50.
Rightnav:
Highlights
DOME Members Receive Awards
Two members of the DOME theme, Professor Steve O'Rahilly (theme leader) and Professor Krishna Chatterjee are among the first to be awarded Wellcome Trust Senior Investigator Awards, a prestigious new scheme providing funding for exceptional researchers who demonstrate they are addressing some of the most important questions about health and disease.
Read more...
