1 - 25 of 145 results for author:"O'Rahilly S." in Literature citations
Results Customize
› Repeat search in UniProtKB (28)
| Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Lindhurst M.J., Parker V.E., Payne F., Sapp J.C., Rudge S., Harris J., Witkowski A.M., Zhang Q., Groeneveld M.P., Scott C.E. et al. Nat. Genet. 44:928-933(2012) · Mapped (7) |
| A genome-wide association meta-analysis identifies new childhood obesity loci. Early Growth Genetics Consortium Nat. Genet. 44:526-531(2012) · Mapped (3) |
| Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate. Ma M., Harding H.P., O'Rahilly S., Ron D., Yeo G.S. Biochem. J. 444:183-187(2012) · Mapped (4) |
| 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 B.J. et al. |
| Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5). Gandotra S., Lim K., Girousse A., Saudek V., O'Rahilly S., Savage D.B. J. Biol. Chem. 286:34998-35006(2011) · Mapped (7) |
| Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Kilpelainen T.O., Zillikens M.C., Stancakova A., Finucane F.M., Ried J.S., Langenberg C., Zhang W., Beckmann J.S., Luan J., Vandenput L. et al. Nat. Genet. 43:753-760(2011) · Mapped (1) |
| Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency. Corander M.P., Rimmington D., Challis B.G., O'Rahilly S., Coll A.P. Endocrinology 152:1819-1828(2011) · Mapped (4) |
| Perilipin deficiency and autosomal dominant partial lipodystrophy. Gandotra S., Le Dour C., Bottomley W., Cervera P., Giral P., Reznik Y., Charpentier G., Auclair M., Delepine M., Barroso I. et al. N. Engl. J. Med. 364:740-748(2011) · UniProtKB (1) |
| Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling. Raffan E., Soos M.A., Rocha N., Tuthill A., Thomsen A.R., Hyden C.S., Gregory J.W., Hindmarsh P., Dattani M., Cochran E. et al. Diabetologia 54:1057-1065(2011) · Mapped (12) |
| Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Huang-Doran I., Bicknell L.S., Finucane F.M., Rocha N., Porter K.M., Tung Y.C., Szekeres F., Krook A., Nolan J.J., O'Driscoll M. et al. Diabetes 60:925-935(2011) · Mapped (4) |
| Differential lipid partitioning between adipocytes and tissue macrophages modulates macrophage lipotoxicity and M2/M1 polarization in obese mice. Prieur X., Mok C.Y., Velagapudi V.R., Nunez V., Fuentes L., Montaner D., Ishikawa K., Camacho A., Barbarroja N., O'Rahilly S. et al. Diabetes 60:797-809(2011) · Mapped (4) |
| Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion. Martinelli C.E., Keogh J.M., Greenfield J.R., Henning E., van der Klaauw A.A., Blackwood A., O'Rahilly S., Roelfsema F., Camacho-Hubner C., Pijl H. et al. J. Clin. Endocrinol. Metab. 96:E181-8(2011) · Mapped (1) |
| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Procardis Consortium Nat. Genet. 42:937-948(2010) · Mapped (6) |
| CNS leptin action modulates immune response and survival in sepsis. Tschop J., Nogueiras R., Haas-Lockie S., Kasten K.R., Castaneda T.R., Huber N., Guanciale K., Perez-Tilve D., Habegger K., Ottaway N. et al. J. Neurosci. 30:6036-6047(2010) · Mapped (10) |
| Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. LD Screening Consortium EMBO Mol Med 1:280-287(2009) · Mapped (1) |
| Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. Figueroa K.P., Farooqi S., Harrup K., Frank J., O'Rahilly S., Pulst S.M. PLoS ONE 4:e8280-e8280(2009) · Mapped (3) |
| A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. GIANT Consortium PLoS Genet. 5:e1000768-e1000768(2009) · Mapped (5) |
| Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent. Romeo S., Sentinelli F., Dash S., Yeo G.S., Savage D.B., Leonetti F., Capoccia D., Incani M., Maglio C., Iacovino M. et al. Int J Obes (Lond) 34:190-194(2010) · Mapped (1) |
| Prevalence of loss-of-function FTO mutations in lean and obese individuals. Meyre D., Proulx K., Kawagoe-Takaki H., Vatin V., Gutierrez-Aguilar R., Lyon D., Ma M., Choquet H., Horber F., Van Hul W. et al. Diabetes 59:311-318(2010) · Mapped (4) |
| C/EBP transcription factors regulate SREBP1c gene expression during adipogenesis. Payne V.A., Au W.S., Lowe C.E., Rahman S.M., Friedman J.E., O'Rahilly S., Rochford J.J. Biochem. J. 425:215-223(2010) · Mapped (23) |
| 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 F.M., Kotan L.D., Akcay T., Atay Z. et al. J. Clin. Endocrinol. Metab. 94:3633-3639(2009) · Mapped (3) |
| Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Boissel S., Reish O., Proulx K., Kawagoe-Takaki H., Sedgwick B., Yeo G.S., Meyre D., Golzio C., Molinari F., Kadhom N. et al. Am. J. Hum. Genet. 85:106-111(2009) · UniProtKB (1) · Mapped (6) |
| A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. Dash S., Sano H., Rochford J.J., Semple R.K., Yeo G., Hyden C.S., Soos M.A., Clark J., Rodin A., Langenberg C. et al. Proc. Natl. Acad. Sci. U.S.A. 106:9350-9355(2009) · Mapped (1) |
| Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice. Kis A., Murdoch C., Zhang M., Siva A., Rodriguez-Cuenca S., Carobbio S., Lukasik A., Blount M., O'Rahilly S., Gray S.L. et al. Eur. J. Heart Fail. 11:533-541(2009) · Mapped (2) |
| IRS2 variants and syndromes of severe insulin resistance. Bottomley W.E., Soos M.A., Adams C., Guran T., Howlett T.A., Mackie A., Miell J., Monson J.P., Temple R., Tenenbaum-Rakover Y. et al. Diabetologia 52:1208-1211(2009) · Mapped (5) |