MRC Epidemiology Unit - Publications Database

Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health.

Lockhart SM, Muso M, Zvetkova I, Lam BYH, Ferrari A, Schoenmakers E, Duckett K, Leslie J, Collins A, Romartínez-Alonso B, Tadross JA, Jia R, Gardner EJ, Kentistou K, Zhao Y, Day F, Mörseburg A, Rainbow K, Rimmington D, Mastantuoni M, Harrison J, Nus M, Guma'a K, Sherratt-Mayhew S, Jiang X, Smith KR, Paul DS, Jenkins B, Koulman A, Pietzner M, Langenberg C, Wareham N, Yeo GS, Chatterjee K, Schwabe J, Oakley F, Mann DA, Tontonoz P, Coll AP, Ong K, Perry JRB, O'Rahilly S

Nature metabolism. Sep 2024

(DOI : 10.1038/s42255-024-01126-4)

Resistance to thyroid hormone induced tachycardia in RTHα syndrome.

Dore R, Watson L, Hollidge S, Krause C, Sentis SC, Oelkrug R, Geißler C, Johann K, Pedaran M, Lyons G, Lopez-Alcantara N, Resch J, Sayk F, Iwen KA, Franke A, Boysen TJ, Dalley JW, Lorenz K, Moran C, Rennie KL, Arner A, Kirchner H, Chatterjee K, Mittag J

Nature communications. Jun 2023

(DOI : 10.1038/s41467-023-38960-1)

Centile reference chart for resting metabolic rate through the life course.

Watson L, Cole TJ, Lyons G, Georgiou C, Worsley J, Carr K, Murgatroyd P, Moran C, Chatterjee K, Venables M

Archives of Disease in Childhood. Mar 2023

(DOI : 10.1136/archdischild-2022-325249)

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

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 NJ, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K

The Journal of clinical investigation. May 2010

(DOI : 10.1172/JCI43653)

Initial thyroid status and cardiovascular risk factors: the EPIC-Norfolk prospective population study.

Boekholdt SM, Titan SM, Wiersinga WM, Chatterjee K, Basart DC, Luben R, Wareham NJ, Khaw KT

Clinical endocrinology. Jun 2009

(DOI : 10.1111/j.1365-2265.2009.03640.x)

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.

Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J, Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O'Rahilly S, Chatterjee K

Cell metabolism. May 2006

(DOI : 10.1016/j.cmet.2006.09.003)