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Obesity Due to Steroid Receptor Coactivator-1 Deficiency Is Associated With Endocrine and Metabolic Abnormalities.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. e2532, doi. 10.1210/clinem/dgac067
By:
- Cacciottolo, Tessa M.;
- Henning, Elana;
- Keogh, Julia M.;
- Bel Lassen, Pierre;
- Lawler, Katherine;
- Bounds, Rebecca;
- Ahmed, Rachel;
- Perdikari, Aliki;
- Mendes de Oliveira, Edson;
- Smith, Miriam;
- Godfrey, Edmund M.;
- Johnson, Elspeth;
- Hodson, Leanne;
- Clément, Karine;
- van der Klaauw, Agatha A.;
- Farooqi, I. Sadaf
Publication type:
Article
Leptin-Mediated Changes in the Human Metabolome.
Published in:
2020
By:
- Lawler, Katherine;
- Huang-Doran, Isabel;
- Sonoyama, Takuhiro;
- Tinh-Hai Collet;
- Keogh, Julia M.;
- Henning, Elana;
- O'Rahilly, Stephen;
- Bottolo, Leonardo;
- Farooqi, I. Sadaf;
- Collet, Tinh-Hai
Publication type:
journal article
Genetic architecture of human thinness compared to severe obesity.
Published in:
PLoS Genetics, 2019, v. 15, n. 1, p. 1, doi. 10.1371/journal.pgen.1007603
By:
- Riveros-McKay, Fernando;
- Mistry, Vanisha;
- Bounds, Rebecca;
- Hendricks, Audrey;
- Keogh, Julia M.;
- Thomas, Hannah;
- Henning, Elana;
- Corbin, Laura J.;
- null, null;
- O’Rahilly, Stephen;
- Zeggini, Eleftheria;
- Wheeler, Eleanor;
- Barroso, Inês;
- Farooqi, I. Sadaf
Publication type:
Article
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 3042, doi. 10.1172/JCI68016
By:
- Ramachandrappa, Shwetha;
- Raimondo, Anne;
- Cali, Anna M. G.;
- Keogh, Julia M.;
- Henning, Elana;
- Saeed, Sadia;
- Thompson, Amanda;
- Garg, Sumedha;
- Bochukova, Elena G.;
- Brage, Soren;
- Trowse, Victoria;
- Wheeler, Eleanor;
- Sullivan, Adrienne E.;
- Dattani, Mehul;
- Clayton, Peter E.;
- Datta, Vippan;
- Bruning, John B.;
- Wareham, Nick J.;
- O’Rahilly, Stephen;
- Peet, Daniel J.
Publication type:
Article
Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 4732, doi. 10.1172/JCI62696
By:
- Doche, Michael E.;
- Bochukova, Elena G.;
- Hsiao-Wen Su;
- Pearce, Laura R.;
- Keogh, Julia M.;
- Henning, Elana;
- Cline, Joel M.;
- Dale, Anne;
- Cheetham, Tim;
- Barroso, Inês;
- Argetsinger, Lawrence S.;
- O'Rahilly, Stephen;
- Liangyou Rui;
- Christin Carter-Su;
- Farooqi, I. Sadaf
Publication type:
Article
The central melanocortin system directly controls peripheral lipid metabolism.
Published in:
2007
By:
- Nogueiras, Ruben;
- Wiedmer, Petra;
- Perez-Tilve, Diego;
- Veyrat-Durebex, Christelle;
- Keogh, Julia M.;
- Sutton, Gregory M.;
- Pfluger, Paul T.;
- Castaneda, Tamara R.;
- Neschen, Susanne;
- Hofmann, Susanna M.;
- Howles, Philip N.;
- Morgan, Donald A.;
- Benoit, Stephen C.;
- Szanto, Ildiko;
- Schrott, Brigitte;
- Schürmann, Annette;
- Joost, Hans-Georg;
- Hammond, Craig;
- Hui, David Y.;
- Woods, Stephen C.
Publication type:
journal article
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 513, doi. 10.1038/ng.2607
By:
- Wheeler, Eleanor;
- Huang, Ni;
- Bochukova, Elena G;
- Keogh, Julia M;
- Lindsay, Sarah;
- Garg, Sumedha;
- Henning, Elana;
- Blackburn, Hannah;
- Loos, Ruth J F;
- Wareham, Nick J;
- O'Rahilly, Stephen;
- Hurles, Matthew E;
- Barroso, Inês;
- Farooqi, I Sadaf
Publication type:
Article
A Metabolomic Signature of Acute Caloric Restriction.
Published in:
2017
By:
- Collet, Tinh-Hai;
- Sonoyama, Takuhiro;
- Henning, Elana;
- Keogh, Julia M;
- Ingram, Brian;
- Kelway, Sarah;
- Guo, Lining;
- Farooqi, I Sadaf
Publication type:
journal article
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
Published in:
2015
By:
- Wabitsch, Martin;
- Funcke, Jan-Bernd;
- von Schnurbein, Julia;
- Denzer, Friederike;
- Lahr, Georgia;
- Mazen, Inas;
- El-Gammal, Mona;
- Denzer, Christian;
- Moss, Anja;
- Debatin, Klaus-Michael;
- Gierschik, Peter;
- Mistry, Vanisha;
- Keogh, Julia M;
- Farooqi, I Sadaf;
- Moepps, Barbara;
- Fischer-Posovszky, Pamela
Publication type:
journal article
Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues.
Published in:
2014
By:
- van der Klaauw, Agatha A;
- von dem Hagen, Elisabeth A H;
- Keogh, Julia M;
- Henning, Elana;
- O'Rahilly, Stephen;
- Lawrence, Andrew D;
- Calder, Andrew J;
- Farooqi, I Sadaf
Publication type:
journal article
Postprandial total ghrelin suppression is modulated by melanocortin signaling in humans.
Published in:
2013
By:
- van der Klaauw AA;
- Keogh JM;
- Henning E;
- Blackwood A;
- Haqq AM;
- Purnell JQ;
- Farooqi IS;
- van der Klaauw, Agatha A;
- Keogh, Julia M;
- Henning, Elana;
- Blackwood, Anthea;
- Haqq, Andrea M;
- Purnell, Jonathan Q;
- Farooqi, I Sadaf
Publication type:
journal article
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.
Published in:
2011
By:
- Martinelli, Carlos E;
- Keogh, Julia M;
- Greenfield, Jerry R;
- Henning, Elana;
- van der Klaauw, Agatha A;
- Blackwood, Anthea;
- O'Rahilly, Stephen;
- Roelfsema, Ferdinand;
- Camacho-Hübner, Cecilia;
- Pijl, Hanno;
- Farooqi, I Sadaf
Publication type:
journal article
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-08737-6
By:
- Yang, Yongjie;
- van der Klaauw, Agatha A.;
- Zhu, Liangru;
- Cacciottolo, Tessa M.;
- He, Yanlin;
- Stadler, Lukas K. J.;
- Wang, Chunmei;
- Xu, Pingwen;
- Saito, Kenji;
- Hinton, Antentor;
- Yan, Xiaofeng;
- Keogh, Julia M.;
- Henning, Elana;
- Banton, Matthew C.;
- Hendricks, Audrey E.;
- Bochukova, Elena G.;
- Mistry, Vanisha;
- Lawler, Katherine L.;
- Liao, Lan;
- Xu, Jianming
Publication type:
Article
Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65531-x
By:
- Sonoyama, Takuhiro;
- Stadler, Lukas K. J.;
- Zhu, Mingyan;
- Keogh, Julia M.;
- Henning, Elana;
- Hisama, Fuki;
- Kirwan, Peter;
- Jura, Magdalena;
- Blaszczyk, Beata K.;
- DeWitt, David C.;
- Brouwers, Bas;
- Hyvönen, Marko;
- Barroso, Inês;
- Merkle, Florian T.;
- Appleyard, Suzanne M.;
- Wayman, Gary A.;
- Farooqi, I. Sadaf
Publication type:
Article
Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression.
Published in:
FASEB Journal, 2018, v. 32, n. 4, p. 1830, doi. 10.1096/fj.201700831R
By:
- Lin Jiang;
- Haoran Su;
- Keogh, Julia M.;
- Zheng Chen;
- Henning, Elana;
- Wilkinson, Paul;
- Goodyer, Ian;
- Farooqi, I. Sadaf;
- Liangyou Rui
Publication type:
Article
Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila.
Published in:
PLoS Biology, 2021, v. 19, n. 11, p. 1, doi. 10.1371/journal.pbio.3001255
By:
- Agrawal, Neha;
- Lawler, Katherine;
- Davidson, Catherine M.;
- Keogh, Julia M.;
- Legg, Robert;
- Barroso, Inês;
- Farooqi, I. Sadaf;
- Brand, Andrea H.
Publication type:
Article
Neural networks associated with body composition in frontotemporal dementia.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1707, doi. 10.1002/acn3.50869
By:
- Ahmed, Rebekah M.;
- Landin‐Romero, Ramon;
- Liang, Cheng T.;
- Keogh, Julia M.;
- Henning, Elana;
- Strikwerda‐Brown, Cherie;
- Devenney, Emma M.;
- Hodges, John R.;
- Kiernan, Matthew C.;
- Farooqi, I. Sadaf;
- Piguet, Olivier
Publication type:
Article
Divergent effects of central melanocortin signalling on fat and sucrose preference in humans.
Published in:
Nature Communications, 2016, v. 7, n. 10, p. 13055, doi. 10.1038/ncomms13055
By:
- van der Klaauw, Agatha A.;
- Keogh, Julia M.;
- Henning, Elana;
- Stephenson, Cheryl;
- Kelway, Sarah;
- Trowse, Victoria M.;
- Subramanian, Naresh;
- O'Rahilly, Stephen;
- Fletcher, Paul C.;
- Farooqi, I. Sadaf
Publication type:
Article
Partial leptin deficiency and human adiposity.
Published in:
Nature, 2001, v. 414, n. 6859, p. 34, doi. 10.1038/35102112
By:
- Farooqi, I. Sadaf;
- Keogh, Julia M.;
- Kamath, Sri;
- Jones, Sarah;
- Gibson, William T.;
- Trussell, Rebecca;
- Jebb, Susan A.;
- Lip, Gregory Y.H.;
- O'Rahilly, Stephen
Publication type:
Article
Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene.
Published in:
Diabetes, 2006, v. 55, n. 12, p. 3366, doi. 10.2337/db06-0550
By:
- Gray, Juliette;
- Yeo, Giles S. H.;
- Cox, James J.;
- Morton, Jenny;
- Adlam, Anna-Lynne R.;
- Keogh, Julia M.;
- Yanovski, Jack A.;
- El Gharbawy, Areeg;
- Han, Joan C.;
- Tung, Y. C. Loraine;
- Hodges, John R.;
- Raymond, F. Lucy;
- O'Rahiily, Stephen;
- Farooqi, I. Sadaf
Publication type:
Article
Heterozygosity for a POMC-Null Mutation and Increased Obesity Risk in Humans.
Published in:
Diabetes, 2006, v. 55, n. 9, p. 2549, doi. 10.2337/db06-0214
By:
- Farooqi, I. Sadaf;
- Drop, Stenvert;
- Clements, Agnes;
- Keogh, Julia M.;
- Biernacka, Joanna;
- Lowenbein, Sarah;
- Challis, Benjamin G.;
- O'Rahilly, Stephen
Publication type:
Article
Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits.
Published in:
2004
By:
- Hung, Chiao-Chien Connie;
- Pirie, Fraser;
- Luan, Jian'an;
- Lank, Emma;
- Motala, Ayesha;
- Yeo, Giles S.H.;
- Keogh, Julia M.;
- Wareham, Nicholas J.;
- O'Rahilly, Stephen;
- Farooqi, I. Sadaf
Publication type:
journal article
Contribution of variants in the small heterodimer partner gene to birthweight, adiposity, and insulin levels: mutational analysis and association studies in multiple populations.
Published in:
2003
By:
- Hung, Chiao-Chien Connie;
- Farooqi, I. Sadaf;
- Ong, Ken;
- Luan, Jian'an;
- Keogh, Julia M.;
- Pembrey, Marcus;
- Yeo, Giles S. H.;
- Dunger, David;
- Wareham, Nicholas J.;
- O'Rahilly, Stephen
Publication type:
journal article
The CART Gene and Human Obesity.
Published in:
Diabetes, 2000, v. 49, n. 5, p. 872, doi. 10.2337/diabetes.49.5.872
By:
- Challis, Benjamin G.;
- Yeo, Giles S.H.;
- Farooqi, I. Sadaf;
- Luan, Jian'an;
- Aminian, Shiva;
- Halsall, David J.;
- Keogh, Julia M.;
- Wareham, Nicholas J.;
- O'Rahilly, Stephen
Publication type:
Article
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 17, p. 3257, doi. 10.1093/hmg/ddp263
By:
- de Smith, Adam J.;
- Purmann, Carolin;
- Walters, Robin G.;
- Ellis, Richard J.;
- Holder, Susan E.;
- Van Haelst, Mieke M.;
- Brady, Angela F.;
- Fairbrother, Una L.;
- Dattani, Mehul;
- Keogh, Julia M.;
- Henning, Elana;
- Yeo, Giles S.H.;
- O'Rahilly, Stephen;
- Froguel, Philippe;
- Farooqi, I. Sadaf;
- Blakemore, Alexandra I.F.
Publication type:
Article
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 17, p. 1997, doi. 10.1093/hmg/11.17.1997
By:
- Challis, Benjamin G.;
- Pritchard, Lynn E.;
- Creemers, John W.M.;
- Delplanque, Jerome;
- Keogh, Julia M.;
- Luan, Jian'an;
- Wareham, Nicholas J.;
- Yeo, Giles S.H.;
- Bhattacharyya, Sumit;
- Froguel, Phillipe;
- White, Anne;
- Farooqi, I. Sadaf;
- O'Rahilly, Stephen
Publication type:
Article
High protein intake stimulates postprandial GLP1 and PYY release.
Published in:
Obesity (19307381), 2013, v. 21, n. 8, p. 1602, doi. 10.1002/oby.20154
By:
- Klaauw, Agatha A.;
- Keogh, Julia M.;
- Henning, Elana;
- Trowse, Victoria M.;
- Dhillo, Waljit S.;
- Ghatei, Mohammad A.;
- Farooqi, I. Sadaf
Publication type:
Article
Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with delayed gastric emptying.
Published in:
Clinical Endocrinology, 2022, v. 96, n. 2, p. 270, doi. 10.1111/cen.14615
By:
- Seelig, Eleonora;
- Henning, Elana;
- Keogh, Julia M.;
- Gillett, Daniel;
- Shin, Evelyn;
- Buscombe, John;
- van der Klaauw, Agatha A.;
- Farooqi, I. Sadaf
Publication type:
Article
Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance.
Published in:
2019
By:
- Flores, Anabel;
- Argetsinger, Lawrence S.;
- Stadler, Lukas K. J.;
- Malaga, Alvaro E.;
- Vander, Paul B.;
- DeSantis, Lauren C.;
- Joe, Ray M.;
- Cline, Joel M.;
- Keogh, Julia M.;
- Henning, Elana;
- Barroso, Ines;
- Mendes de Oliveira, Edson;
- Chandrashekar, Gowri;
- Clutter, Erik S.;
- Yixin Hu;
- Stuckey, Jeanne;
- Farooqi, I. Sadaf;
- Myers Jr., Martin G.;
- Carter-Su, Christin;
- Hu, Yixin
Publication type:
journal article

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