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

Autor: Hendricks, Audrey E., Bochukova, Elena G., Marenne, Gaëlle, Keogh, Julia M., Atanassova, Neli, Bounds, Rebecca, Wheeler, Eleanor, Mistry, Vanisha, Henning, Elana, Körner, Antje, Muddyman, Dawn, McCarthy, Shane, Hinney, Anke, Hebebrand, Johannes, Scott, Robert A., Langenberg, Claudia, Wareham, Nick J., Surendran, Praveen, Howson, Joanna M M, Butterworth, Adam S., Danesh, John, Nordestgaard, Børge G., Nielsen, Sune F., Afzal, Shoaib, Papadia, Sofia, Ashford, Sofie, Garg, Sumedha, Millhauser, Glenn L., Palomino, Rafael I., Kwasniewska, Alexandra, Tachmazidou, Ioanna, O'Rahilly, Stephen, Zeggini, Eleftheria, Barroso, Inês, Farooqi, I. Sadaf, Benzeval, Michaela, Burton, Jonathan, Buck, Nicholas, Jäckle, Annette, Kumari, Meena, Laurie, Heather, Lynn, Peter, Pudney, Stephen, Rabe, Birgitta, Wolke, Dieter, Overvad, Kim, Tjønneland, Anne, Clavel-Chapelon, Francoise, Kaaks, Rudolf, Boeing, Heiner, Trichopoulou, Antonia, Ferrari, Pietro, Palli, Domenico, Krogha, Vittorio, Panico, Salvatore, Tuminoa, Rosario, Matullo, Giuseppe, Boer, Jolanda Ma, Van Der Schouw, Yvonne, Weiderpass, Elisabete, Quiros, J. Ramon, Sánchez, María José, Navarro, Carmen, Moreno-Iribas, Conchi, Arriola, Larraitz, Melander, Olle, Wennberg, Patrik, Key, Timothy J., Riboli, Elio, Al-Turki, Saeed, Anderson, Carl A, Anney, Richard, Antony, Dinu, Soler Artigas, María, Ayub, Muhammad, Bala, Senduran, Barrett, Jeffrey C, Beales, Phil, Bentham, Jamie, Bhattacharyaa, Shoumo, Birney, Ewan, Blackwooda, Douglas, Bobrow, Martin, Bolton, Patrick F., Boustred, Chris, Breen, Gerome, Calissanoa, Mattia, Carss, Keren, Charlton, Ruth, Chatterjee, Krishna, Chen, Lu, Ciampia, Antonio, Cirak, Sebahattin, Clapham, Peter, Clement, Gail, Coates, Guy, Coccaa, Massimiliano, Collier, David A, Cosgrove, Catherine, Coxa, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Danecek, Petr, Day, Ian N M, Day-Williams, Aaron G, Dominiczak, Anna, Down, Thomas, Du, Yuanping, Dunham, Ian, Durbin, Richard, Edkins, Sarah, Ekong, Rosemary, Ellis, Peter, Evansa, David M., FitzPatrick, David R., Flicek, Paul, Floyd, James S., Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise, Gaunt, Tom R., Geihs, Matthias, Geschwind, Daniel H., Greenwood, Celia M.T., Griffin, Heather, Grozeva, Detelina, Guo, Xiaosen, Guo, Xueqin, Gurling, Hugh, Hart, Deborah J., Holmans, Peter A, Howie, Bryan, Huang, Jie, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hurles, Matthew E., Hysi, Pirro G., Iotchkova, Valentina, Jackson, David K., Jamshidi, Yalda, Joyce, Chris, Karczewski, Konrad J., Kaye, Jane, Keane, Thomas, Kemp, John P., Kennedy, Karen, Kent, Alastair, Khawaja, Farrah, Van Kogelenberg, Margriet, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel, Lee, Irene, Lek, Monkol, Li, Rui, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Lönnqvist, Jouko, Lopes, Luis R., Lopes, Margarida, MacArthur, Daniel G., Mangino, Massimo, Marchini, Jonathan, Maslen, John, Mathieson, Iain, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew, Memari, Yasin, Metrustry, Sarah, Migone, Nicola, Min, Josine L., Mitchison, Hannah M, Moayyeri, Alireza, Morris, Andrew D., Morris, James, Muntoni, Francesco, Northstone, Kate, O'Donovan, Michael C., Onoufriadis, Alexandros, Oualkacha, Karim, Owen, Michael J, Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Payne, Stewart J., Perry, John R. B., Pietilainen, Olli, Plagnol, Vincent, Pollitt, Rebecca C., Porteous, David J., Povey, Sue, Quail, Michael A., Quaye, Lydia, Raymond, F. Lucy, Rehnström, Karola, Richards, J Brent, Ridout, Cheryl K., Ring, Susan M., Ritchie, Graham R.S., Roberts, Nicola, Robinson, Rachel L., Savage, David B., Scambler, Peter, Schiffels, Stephan, Schmidts, Miriam, Schoenmakers, Nadia, Scott, Richard H., Semple, Robert K., Serra, Eva, Sharp, Sally I., Shaw, Adam, Shihab, Hashem A., Shin, So Youn, Skuse, David, Small, Kerrin S, Smee, Carol, Smith, Blair H., Davey Smith, George, Soranzo, Nicole, Southam, Lorraine, Spasic-Boskovic, Olivera, Spector, Timothy D, St Clair, David, St Pourcain, Beate, Stalker, Jim, Stevens, Elizabeth, Sun, Jianping, Surdulescu, Gabriela L, Suvisaari, Jaana, Syrris, Petros, Taylor, Rohan, Tian, Jing, Timpson, Nicholas J., Tobin, Martin D, Valdes, Ana M., Vandersteen, Anthony M., Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walter, Klaudia, Walters, James T.R., Wang, Guangbiao, Wang, Jun, Wang, Nai-Yu, Ward, Kirsten, Whyte, Tamieka, Williams, Hywel J., Williamson, Kathleen A., Wilson, Crispian, Wilson, Scott G., Wong, Kim, Xu, Changjiang, Yang, Jian, Zhang, Feng, Zhang, Pingbo, Zheng, Hou Feng

Publikováno v: Scientific Reports, 7(1). Nature Publishing Group

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 contributing to obesity in 2% o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::83e634451b4d6057ccf15beb65d6e71d
https://dspace.library.uu.nl/handle/1874/354737

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Autor: 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, O'Rahilly, Stephen, Tong, Qingchun, Barroso, Ines, O'Malley, Bert W., Farooqi, I. Sadaf, Xu, Yong, Balasubramanian, Senduran, Clapham, Peter, Coates, Guy, Cox, Tony, Daly, Allan, Danecek, Petr, Du, Yuanping, Durbin, Richard, Edkins, Sarah, Ellis, Peter, Flicek, Paul, Guo, Xiaosen, Guo, Xueqin, Huang, Liren, Jackson, David K., Joyce, Chris, Keane, Thomas, Kolb-Kokocinski, Anja, Langford, Cordelia, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Maslen, John, McCarthy, Shane, Muddyman, Dawn, Quail, Michael A., Stalker, Jim, Sun, Jianping, Tian, Jing, Wang, Guangbiao, Wang, Jun, Wang, Yu, Wong, Kim, Zhang, Pingbo, Birney, Ewan, Boustred, Chris, Brion, Marie-Jo, Chen, Lu, Clement, Gail, Smith, George Davey, Day, Ian N. M., Day-Williams, Aaron, Down, Thomas, Dunham, Ian, Evans, David M., Fatemifar, Ghazaleh, Gaunt, Tom R., Geihs, Matthias, Greenwood, Celia M. T., Hart, Deborah, Howie, Bryan, Huang, Jie, Hubbard, Tim, Hysi, Pirro, Iotchkova, Valentina, Jamshidi, Yalda, Kemp, John P., Lachance, Genevieve, Lawson, Daniel, Lek, Monkol, Lopes, Margarida, MacArthur, Daniel G., Marchini, Jonathan, Massimo, Mangino, Mathieson, Iain, Memari, Yasin, Metrustry, Sarah, Min, Josine L., Moayyeri, Alireza, Northstone, Kate, Panoutsopoulou, Kalliope, Paternoster, Lavinia, Perry, John R. B., Quaye, Lydia, Richards, J. Brent, Ring, Susan, Ritchie, Graham R. S., Schiffels, Stephan, Shihab, Hashem A., Shin, So-Youn, Small, Kerrin S., Artigas, Maria Soler, Soranzo, Nicole, Southam, Lorraine, Spector, Timothy D., St Pourcain, Beate, Surdulescu, Gabriela, Tachmazidou, Ioanna, Timpson, Nicholas J., Tobin, Martin D., Valdes, Ana M., Visscher, Peter M., Wain, Louise V., Walter, Klaudia, Ward, Kirsten, Wilson, Scott G., Yang, Jian, Zeggini, Eleftheria, Zhang, Feng, Zheng, Hou-Feng, Anney, Richard, Ayub, Muhammad, Barrett, Jeffrey C., Blackwood, Douglas, Bolton, Patrick F., Breen, Gerome, Collier, David A., Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Gallagher, Louise, Geschwind, Daniel, Gurling, Hugh, Holmans, Peter, Lee, Irene, Lonnqvist, Jouko, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew, Morris, James, O'Donovan, Michael C., Owen, Michael J., Palotie, Aarno, Parr, Jeremy R., Paunio, Tiina, Pietilainen, Olli, Rehnstrom, Karola, Sharp, Sally I., Skuse, David, St Clair, David, Suvisaari, Jaana, Walters, James T. R., Williams, Hywel J., Bochukova, Elena, Bounds, Rebecca, Dominiczak, Anna, Keogh, Julia, Marenne, Gaelle, Morris, Andrew, Porteous, David J., Smith, Blair H., Wheeler, Eleanor, Al Turki, Saeed, Anderson, Carl A., Antony, Dinu, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Fitzpatrick, David R., Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Grozeva, Detelina, Humphries, Steve E., Hurles, Matthew E., Mitchison, Hannah M., Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, F. Lucy, Roberts, Nicola, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Spasic-Boskovic, Olivera, Stevens, Elizabeth, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Williamson, Kathleen A., Wilson, Crispian, Whyte, Tamieka, Ciampi, Antonio, Li, Rui, Oualkacha, Karim, Xu, ChangJiang, Bobrow, Martin, Griffin, Heather, Kaye, Jane, Kennedy, Karen, Kent, Alastair, Smee, Carol, Charlton, Ruth, Ekong, Rosemary, Khawaja, Farrah, Lopes, Luis R., Migone, Nicola, Payne, Stewart J., Pollitt, Rebecca C., Povey, Sue, Ridout, Cheryl K., Robinson, Rachel L., Scott, Richard H., Shaw, Adam, Syrris, Petros, Taylor, Rohan, Vandersteen, Anthony M., Amuzu, Antoinette, Casas, Juan Pablo, Chambers, John C., Cocca, Massimiliano, Dedoussis, George, Gambaro, Giovanni, Gasparini, Paolo, Isaacs, Aaron, Johnson, Jon, Kleber, Marcus E., Kooner, Jaspal S., Langenberg, Claudia, Luan, Jian'an, Malerba, Giovanni, Marz, Winfried, Matchan, Angela, Morris, Richard, Nordestgaard, Børge G., Benn, Marianne, Scott, Robert A., Toniolo, Daniela, Traglia, Michela, Tybjaerg-Hansen, Anne, van Duijn, Cornelia M., van Leeuwen, Elisabeth M., Varbo, Anette, Whincup, Peter, Zaza, Gianluigi, Zhang, Weihua

Publikováno v: Yang, Y, van der Klaauw, A A, Zhu, L, Cacciottolo, T M, He, Y, Stadler, L K J, Wang, C, Xu, P, Saito, K, Hinton, A, Yan, X, Keogh, J M, Henning, E, Banton, M C, Hendricks, A E, Bochukova, E G, Mistry, V, Lawler, K L, Liao, L, Xu, J, O'Rahilly, S, Tong, Q, Barroso, I, O'Malley, B W, Farooqi, I S, Xu, Y, Balasubramanian, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Guo, X, Huang, L, Jackson, D K, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, M A, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Birney, E, Boustred, C, Brion, M-J, Chen, L, Clement, G, Danecek, P, Smith, G D, Day, I N M, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, D M, Fatemifar, G, Gaunt, T R, Geihs, M, Greenwood, C M T, Hart, D, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Kemp, J P, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, D G, Marchini, J, Massimo, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, J L, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, J R B, Quaye, L, Richards, J B, Ring, S, Ritchie, G R S, Schiffels, S, Shihab, H A, Shin, S-Y, Small, K S, Artigas, M S, Soranzo, N, Southam, L, Spector, T D, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, N J, Tobin, M D, Valdes, A M, Visscher, P M, Wain, L V, Walter, K, Ward, K, Wilson, S G, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, J C, Blackwood, D, Bolton, P F, Breen, G, Collier, D A, Craddock, N, Crooks, L, Curran, S, Curtis, D, Durbin, R, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McCarthy, S, McGuffin, P, McIntosh, A M, McKechanie, A G, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, M C, Owen, M J, Palotie, A, Parr, J R, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, S I, Skuse, D, St Clair, D, Suvisaari, J, Walters, J T R, Williams, H J, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Keogh, J, Marenne, G, McCarthy, S, Morris, A, Muddyman, D, Porteous, D J, Smith, B H, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, C A, Antony, D, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, D R, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Grozeva, D, Humphries, S E, Hurles, M E, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, F L, Roberts, N, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R K, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, K A, Wilson, C, Whyte, T, Ciampi, A, Greenwood, C M T, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, P F, Durbin, R, Fitzpatrick, D R, Griffin, H, Hurles, M E, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, F L, Semple, R K, Smee, C, Spector, T D, Timpson, N J, Charlton, R, Ekong, R, Futema, M, Humphries, S E, Khawaja, F, Lopes, L R, Migone, N, Payne, S J, Plagnol, V, Pollitt, R C, Povey, S, Ridout, C K, Robinson, R L, Scott, R H, Shaw, A, Syrris, P, Taylor, R, Vandersteen, A M, Barrett, J C, Smith, G D, Durbin, R, Fitzpatrick, D R, Hurles, M E, Kaye, J, Kennedy, K, Langford, C, McCarthy, S, Muddyman, D, Owen, M J, Palotie, A, Richards, J B, Soranzo, N, Spector, T D, Stalker, J, Timpson, N J, Zeggini, E, Amuzu, A, Casas, J P, Chambers, J C, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Gaunt, T R, Huang, J, Iotchkova, V, Isaacs, A, Johnson, J, Kleber, M E, Kooner, J S, Langenberg, C, Luan, J, Malerba, G, Marz, W, Matchan, A, Min, J L, Morris, R, Nordestgaard, B G, Benn, M, Ring, S, Scott, R A, Soranzo, N, Southam, L, Timpson, N J, Toniolo, D, Traglia, M, Tybjaerg-Hansen, A, van Duijn, C M, van Leeuwen, E M, Varbo, A, Whincup, P, Zaza, G, Zeggini, E & Zhang, W 2019, ' Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis ', Nature Communications, vol. 10, 1718 . https://doi.org/10.1038/s41467-019-08737-6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2751::866e581079d1034c6e8f3acf6df2ee44
https://curis.ku.dk/portal/da/publications/steroid-receptor-coactivator1-modulates-the-function-of-pomc-neurons-and-energy-homeostasis(c9787c62-2da4-431c-859a-aacf8aef2461).html