Zobrazeno 1 - 10
of 145
pro vyhledávání: '"Uk10K, ."'
Autor:
Yongjie Yang, Agatha A. van der Klaauw, Liangru Zhu, Tessa M. Cacciottolo, Yanlin He, Lukas K. J. Stadler, Chunmei Wang, Pingwen Xu, Kenji Saito, Antentor Hinton, Xiaofeng Yan, Julia M. Keogh, Elana Henning, Matthew C. Banton, Audrey E. Hendricks, Elena G. Bochukova, Vanisha Mistry, Katherine L. Lawler, Lan Liao, Jianming Xu, Stephen O’Rahilly, Qingchun Tong, UK10K Consortium, Inês Barroso, Bert W. O’Malley, I. Sadaf Farooqi, Yong Xu
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Neurons expressing pro-opiomelanocortin (Pomc) regulate food intake and body weight. Here the authors show that Steroid Receptor Coactivator-1 (SRC-1) regulates the function of Pomc expressing neurons, and that rare heterozygous variants found in obe
Externí odkaz:
https://doaj.org/article/1d82850af2594a8381d4f4b41b3524ec
Autor:
Simon Haworth, Chin Yang Shapland, Caroline Hayward, Bram P. Prins, Janine F. Felix, Carolina Medina-Gomez, Fernando Rivadeneira, Carol Wang, Tarunveer S. Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, Andrew Jackson, Louise Cleal, Jennifer Huffmann, Josine L. Min, Lærke Sass, Paul R. H. J. Timmers, UK10K consortium, George Davey Smith, Simon E. Fisher, James F. Wilson, Tim J. Cole, Dietmar Fernandez-Orth, Klaus Bønnelykke, Hans Bisgaard, Craig E. Pennell, Vincent W. V. Jaddoe, George Dedoussis, Nicholas Timpson, Eleftheria Zeggini, Veronique Vitart, Beate St Pourcain
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Size and shape of the brain are, among others, influenced by the dimensions of the skull. Here, the authors report genome-wide association studies for head circumference and intracranial volume in children and adults and the identification of nine co
Externí odkaz:
https://doaj.org/article/f76d0c11b2064d1e81bbe40dde812983
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
Autor:
Audrey E. Hendricks, Elena G. Bochukova, Gaëlle Marenne, Julia M. Keogh, Neli Atanassova, Rebecca Bounds, Eleanor Wheeler, Vanisha Mistry, Elana Henning, Antje Körner, Dawn Muddyman, Shane McCarthy, Anke Hinney, Johannes Hebebrand, Robert A. Scott, Claudia Langenberg, Nick J. Wareham, Praveen Surendran, Joanna M. Howson, Adam S. Butterworth, John Danesh, Børge G Nordestgaard, Sune F Nielsen, Shoaib Afzal, Sofia Papadia, Sofie Ashford, Sumedha Garg, Glenn L. Millhauser, Rafael I. Palomino, Alexandra Kwasniewska, Ioanna Tachmazidou, Stephen O’Rahilly, Eleftheria Zeggini, Inês Barroso, I. Sadaf Farooqi, Understanding Society Scientific Group, EPIC-CVD Consortium, UK10K Consortium
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Abstract 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 obesit
Externí odkaz:
https://doaj.org/article/54a92d82de8240b1979f1209871a8899
Autor:
Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly o
Externí odkaz:
https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e
Autor:
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new in
Externí odkaz:
https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0
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
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
https://hal.science/hal-02375383/file/S0092867418316234.pdf
Autor:
Haworth, Simon, Shapland, Chin Yang, Hayward, Caroline, Prins, Bram P, Felix, Janine F, Medina-Gomez, Carolina, Rivadeneira, Fernando, Wang, Carol, Ahluwalia, Tarunveer S, Vrijheid, Martine, Guxens, Mònica, Sunyer, Jordi, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew, Cleal, Louise, Huffmann, Jennifer, Min, Josine L, Sass, Lærke, Timmers, Paul RHJ, UK10K Consortium, Davey Smith, George, Fisher, Simon E, Wilson, James F, Cole, Tim J, Fernandez-Orth, Dietmar, Bønnelykke, Klaus, Bisgaard, Hans, Pennell, Craig E, Jaddoe, Vincent WV, Dedoussis, George, Timpson, Nicholas, Zeggini, Eleftheria, Vitart, Veronique, St Pourcain, Beate
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gómez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffman, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Fisher, S E, Wilson, J F, Cole, T J, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, C E, Jaddoe, V W V, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V & St Pourcain, B & McKechanie, A G 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gómez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffman, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Fisher, S E, Wilson, J F, Cole, T J, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, C E, Jaddoe, V W V, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V & St Pourcain, B & McKechanie, A G 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7047a9480e5a6e900eb2f719b96df21
https://doaj.org/article/f76d0c11b2064d1e81bbe40dde812983
https://doaj.org/article/f76d0c11b2064d1e81bbe40dde812983
Autor:
Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10K, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-1 (2016)
Nature Communications 6: Article number:7074 (2015); Published: 05 June 2015; Updated: 29 Marrch 2016 The financial support for this article was not fully acknowledged. The Acknowledgements should have included the following: PLB was supported by the
Externí odkaz:
https://doaj.org/article/fe526948b1b844108e793383fc2005c8
Autor:
Marenne, Gaëlle, Hendricks, Audrey E, Perdikari, Aliki, Bounds, Rebecca, Payne, Felicity, Keogh, Julia M, Lelliott, Christopher J, Henning, Elana, Pathan, Saad, Ashford, Sofie, Bochukova, Elena G, Mistry, Vanisha, Daly, Allan, Hayward, Caroline, INTERVAL, UK10K Consortium, Wareham, Nicholas J, O'Rahilly, Stephen, Langenberg, Claudia, Wheeler, Eleanor, Zeggini, Eleftheria, Farooqi, I Sadaf, Barroso, Inês
Obesity is genetically heterogeneous with monogenic and complex polygenic forms. Using exome and targeted sequencing in 2,737 severely obese cases and 6,704 controls, we identified three genes (PHIP, DGKI, and ZMYM4) with an excess burden of very rar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d950718054c9a5f9061602429fdd50
https://openaccess.sgul.ac.uk/id/eprint/112151/1/1-s2.0-S1550413120302461-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/112151/1/1-s2.0-S1550413120302461-main.pdf
Autor:
Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean-Francois, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M., UK10K Rare Grp
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Nature Communications
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
NATURE COMMUNICATIONS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Nature Communications
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
NATURE COMMUNICATIONS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::afbb9e12db162e05ce248470b6ee164e
https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e
https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e