1 - 25 of 49 results for author:"Farooqi I.S." in Literature citations
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| Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery. Hatoum I.J., Stylopoulos N., Vanhoose A.M., Boyd K.L., Yin D.P., Ellacott K.L., Ma L.L., Blaszczyk K., Keogh J.M., Cone R.D. et al. J. Clin. Endocrinol. Metab. 97:E1023-31(2012) · Mapped (3) |
| A genome-wide association meta-analysis identifies new childhood obesity loci. Early Growth Genetics Consortium Nat. Genet. 44:526-531(2012) · Mapped (3) |
| A mutation in the thyroid hormone receptor alpha gene. Bochukova E., Schoenmakers N., Agostini M., Schoenmakers E., Rajanayagam O., Keogh J.M., Henning E., Reinemund J., Gevers E., Sarri M. et al. N. Engl. J. Med. 366:243-249(2012) · UniProtKB (1) |
| Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. McCabe M.J., Gaston-Massuet C., Tziaferi V., Gregory L.C., Alatzoglou K.S., Signore M., Puelles E., Gerrelli D., Farooqi I.S., Raza J. et al. J. Clin. Endocrinol. Metab. 96:E1709-18(2011) · Mapped (22) |
| Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity. Mazen I., El-Gammal M., Abdel-Hamid M., Farooqi I.S., Amr K. Mol. Genet. Metab. 102:461-464(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) |
| Antidiabetic effects of IGFBP2, a leptin-regulated gene. Hedbacker K., Birsoy K., Wysocki R.W., Asilmaz E., Ahima R.S., Farooqi I.S., Friedman J.M. Cell Metab. 11:11-22(2010) · Mapped (6) |
| 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) |
| 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) |
| Modulation of blood pressure by central melanocortinergic pathways. Greenfield J.R., Miller J.W., Keogh J.M., Henning E., Satterwhite J.H., Cameron G.S., Astruc B., Mayer J.P., Brage S., See T.C. et al. N. Engl. J. Med. 360:44-52(2009) · Mapped (1) |
| Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Wellcome Trust Case Control Consortium Nat. Genet. 41:25-34(2009) · Mapped (30) |
| Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. Tan K., Pogozheva I.D., Yeo G.S., Hadaschik D., Keogh J.M., Haskell-Leuvano C., O'Rahilly S., Mosberg H.I., Farooqi I.S. Endocrinology 150:114-125(2009) · Mapped (1) |
| Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. Kimber W., Peelman F., Prieur X., Wangensteen T., O'Rahilly S., Tavernier J., Farooqi I.S. Endocrinology 149:6043-6052(2008) · Mapped (4) |
| Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway. Creemers J.W., Lee Y.S., Oliver R.L., Bahceci M., Tuzcu A., Gokalp D., Keogh J., Herber S., White A., O'Rahilly S. et al. J. Clin. Endocrinol. Metab. 93:4494-4499(2008) · Mapped (6) |
| Obesity associated genetic variation in FTO is associated with diminished satiety. Wardle J., Carnell S., Haworth C.M., Farooqi I.S., O'Rahilly S., Plomin R. J. Clin. Endocrinol. Metab. 93:3640-3643(2008) · Mapped (4) |
| Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Stutzmann F., Tan K., Vatin V., Dina C., Jouret B., Tichet J., Balkau B., Potoczna N., Horber F., O'Rahilly S. et al. Diabetes 57:2511-2518(2008) · Mapped (1) |
| The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Gerken T., Girard C.A., Tung Y.C., Webby C.J., Saudek V., Hewitson K.S., Yeo G.S., McDonough M.A., Cunliffe S., McNeill L.A. et al. |
| The central melanocortin system directly controls peripheral lipid metabolism. Nogueiras R., Wiedmer P., Perez-Tilve D., Veyrat-Durebex C., Keogh J.M., Sutton G.M., Pfluger P.T., Castaneda T.R., Neschen S., Hofmann S.M. et al. J. Clin. Invest. 117:3475-3488(2007) · Mapped (11) |
| Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. Farooqi I.S., Volders K., Stanhope R., Heuschkel R., White A., Lank E., Keogh J., O'Rahilly S., Creemers J.W.M. J. Clin. Endocrinol. Metab. 92:3369-3373(2007) · UniProtKB (1) · Mapped (4) |
| Screening the human prepro-orexin gene in a single-centre narcolepsy cohort. Quinnell T.G., Farooqi I.S., Smith I.E., Shneerson J.M. Sleep Med. 8:498-502(2007) · Mapped (176) |
| Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. Farooqi I.S., Wangensteen T., Collins S., Kimber W., Matarese G., Keogh J.M., Lank E., Bottomley B., Lopez-Fernandez J., Ferraz-Amaro I. et al. N. Engl. J. Med. 356:237-247(2007) · Mapped (8) |
| Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene. Topaloglu A.K., Lu Z.L., Farooqi I.S., Mungan N.O., Yuksel B., O'Rahilly S., Millar R.P. Neuroendocrinology 84:301-308(2006) · Mapped (1) |
| Studies of the SIM1 gene in relation to human obesity and obesity-related traits. Hung C.C., Luan J., Sims M., Keogh J.M., Hall C., Wareham N.J., O'Rahilly S., Farooqi I.S. Int J Obes (Lond) 31:429-434(2007) · Mapped (1) |