Obesity-associated GNAS mutations and the melanocortin pathway

Autor: Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosinski J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS

Publikováno v: Yearbook of Paediatric Endocrinology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7fbb565c4dc3b5f9211970fb3a039d38
https://doi.org/10.1530/ey.19.15.3

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

Autor: Van Der Klaauw, AA, Croizier, S, De Oliveira, E, Stadler, LKJ, Park, S, Kong, Y, Banton, MC, Tandon, P, Hendricks, AE, Keogh, JM, Riley, SE, Papadia, S, Henning, E, Bounds, R, Bochukova, EG, Mistry, V, O'Rahilly, S, Simerly, RB, Interval, Consortium, Uk10K, Minchin, JEN, Barroso, I, Jones, EY, Bouret, SG, Farooqi, IS

Publikováno v: Cell
Cell, 2019, 176 (4), pp.729-742.e18. ⟨10.1016/j.cell.2018.12.009⟩
Van Der Klaauw, A A, Croizier, S, Mendes De Oliveira, E, Stadler, L K J, Park, S, Kong, Y, Banton, M C, Tandon, P, Hendricks, A E, Keogh, J M, Riley, S E, Papadia, S, Henning, E, Bounds, R, Bochukova, E G, Mistry, V, O’rahilly, S, Simerly, R B, Minchin, J E N, Barroso, I & Jones, E Y & Bouret, S G & Farooqi, I S 2019, ' Human semaphorin 3 variants link melanocortin circuit development and energy balance ', Cell, vol. 176, no. 4, pp. 729-742 . https://doi.org/10.1016/j.cell.2018.12.009
Cell, Elsevier, 2019, 176 (4), pp.729-742.e18. ⟨10.1016/j.cell.2018.12.009⟩
Cell, vol. 176, no. 4, pp. 729-742.e18

Summary Hypothalamic melanocortin neurons play a pivotal role in weight regulation. Here, we examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these circuits. In genetic studies, we found 40 rare variants in SEMA3A-G a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80eb92bc3fd4ba670283a473e22557d3
https://hal.science/hal-02375383/file/S0092867418316234.pdf

Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression

Autor: Farooqi, IS, Jiang, L, Su, H, Keogh, JM, Chen, Z, Henning, E, Wilkinson, P, Goodyer, I, Rui, L

Psychiatric disorders are associated with aberrant brain development and/or aggressive behavior and are influenced by genetic factors; however, genes that affect brain aggression circuits remain elusive. Here, we show that neuronal Src-homology-2 (SH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce558e853939e3c29436aeb7f4aa225d

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Autor: Hendricks, AE, Bochukova, EG, Marenne, G, Keogh, JM, Atanassova, N, Bounds, R, Wheeler, E, Mistry, V, Henning, E, Körner, A, Muddyman, D, McCarthy, S, Hinney, A, Hebebrand, J, Scott, RA, Langenberg, C, Wareham, NJ, Surendran, P, Howson, JM, Butterworth, AS, Danesh, J, Nordestgaard, BG, Nielsen, SF, Afzal, S, Papadia, S, Ashford, S, Garg, S, Millhauser, GL, Palomino, RI, Kwasniewska, A, Tachmazidou, I, O'Rahilly, S, Zeggini, E, Barroso, I, Farooqi, IS, Benzeval, M, Burton, J, Buck, N, Jäckle, A, Kumari, M, Laurie, H, Lynn, P, Pudney, S, Rabe, B, Wolke, D, Overvad, K, Tjønneland, A, Clavel-Chapelon, F, Kaaks, R, Boeing, H, Trichopoulou, A, Ferrari, P, Palli, D, Krogha, V, Panico, S, Tuminoa, R, Matullo, G, Boer, J, Van Der Schouw, Y, Weiderpass, E, Quiros, JR, Sánchez, MJ, Navarro, C, Moreno-Iribas, C, Arriola, L, Melander, O, Wennberg, P, Key, TJ, Riboli, E, Turki, SA, Anderson, CA, Anney, R, Antony, D, Soler Artigas, M, Ayub, M, Bala, S, Barrett, JC, Beales, P, Bentham, J, Bhattacharyaa, S, Birney, E, Blackwooda, D, Bobrow, M, Bolton, PF, Boustred, C, Breen, G, Calissanoa, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampia, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Coccaa, M, Collier, DA, Cosgrove, C, Coxa, T, Crooks, Lucy

© 2017 The Author(s). Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants contribu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::5b1cfe5c9920b3057eee2078b2962c56
https://shura.shu.ac.uk/27938/1/s41598-017-03054-8.pdf

Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity

Autor: Caroline Ho, Tatiana V. Novoselova, Masato Asai, Adrian J. L. Clark, Li F. Chan, Shwetha Ramachandrappa, Keogh Jm, Yuan Shen, I. Sadaf Farooqi, Martin Ridderstråle, Sumedha Garg, Maria Joachim, Stephen O'Rahilly, Claude Marcus, Joseph A. Majzoub, Rong Zhang, Peter R. Ferket, Kirsten Linhart, Visali Ramanathan, Nikhil Nuthalapati, Joel N. Hirschhorn, David E. Strochlic

Publikováno v: Science
Science; Vol 341

Accessory to Obesity? Melanocortin receptors are a family of cell membrane receptors that control diverse physiological functions. Mutations in the gene encoding melanocortin 4 receptor (MC4R) are a cause of familial early-onset obesity. Asai et al.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f238fd4cbe570d8e2aeeec44b43890e
https://doi.org/10.1126/science.1233000