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Your search keyword '"Butterfield, Natalie C."' showing total 3 results
Start Over Author "Butterfield, Natalie C." Journal nature genetics
3 results on '"Butterfield, Natalie C."'

1. Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

Author

Kemp, John P, primary, Morris, John A, additional, Medina-Gomez, Carolina, additional, Forgetta, Vincenzo, additional, Warrington, Nicole M, additional, Youlten, Scott E, additional, Zheng, Jie, additional, Gregson, Celia L, additional, Grundberg, Elin, additional, Trajanoska, Katerina, additional, Logan, John G, additional, Pollard, Andrea S, additional, Sparkes, Penny C, additional, Ghirardello, Elena J, additional, Allen, Rebecca, additional, Leitch, Victoria D, additional, Butterfield, Natalie C, additional, Komla-Ebri, Davide, additional, Adoum, Anne-Tounsia, additional, Curry, Katharine F, additional, White, Jacqueline K, additional, Kussy, Fiona, additional, Greenlaw, Keelin M, additional, Xu, Changjiang, additional, Harvey, Nicholas C, additional, Cooper, Cyrus, additional, Adams, David J, additional, Greenwood, Celia M T, additional, Maurano, Matthew T, additional, Kaptoge, Stephen, additional, Rivadeneira, Fernando, additional, Tobias, Jonathan H, additional, Croucher, Peter I, additional, Ackert-Bicknell, Cheryl L, additional, Bassett, J H Duncan, additional, Williams, Graham R, additional, Richards, J Brent, additional, and Evans, David M, additional

Published
2017
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2. An atlas of genetic influences on osteoporosis in humans and mice

Author

Morris, John A., Kemp, John P., Youlten, Scott E., Laurent, Laetitia, Logan, John G., Chai, Ryan C., Vulpescu, Nicholas A., Forgetta, Vincenzo, Kleinman, Aaron, Mohanty, Sindhu T., Sergio, C. Marcelo, Quinn, Julian, Nguyen-Yamamoto, Loan, Luco, Aimee-Lee, Vijay, Jinchu, Simon, Marie-Michelle, Pramatarova, Albena, Medina-Gomez, Carolina, Trajanoska, Katerina, Ghirardello, Elena J., Butterfield, Natalie C., Curry, Katharine F., Leitch, Victoria D., Sparkes, Penny C., Adoum, Anne-Tounsia, Mannan, Naila S., Komla-Ebri, Davide S. K., Pollard, Andrea S., Dewhurst, Hannah F., Hassall, Thomas A. D., Beltejar, Michael-John G., Adams, Douglas J., Vaillancourt, Suzanne M., Kaptoge, Stephen, Baldock, Paul, Cooper, Cyrus, Reeve, Jonathan, Ntzani, Evangelia E., Evangelou, Evangelos, Ohlsson, Claes, Karasik, David, Rivadeneira, Fernando, Kiel, Douglas P., Tobias, Jonathan H., Gregson, Celia L., Harvey, Nicholas C., Grundberg, Elin, Goltzman, David, Adams, David J., Lelliott, Christopher J., Hinds, David A., Ackert-Bicknell, Cheryl L., Hsu, Yi-Hsiang, Maurano, Matthew T., Croucher, Peter I., Williams, Graham R., Bassett, J. H. Duncan, Evans, David M., and Richards, J. Brent

Abstract

Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound in 426,824 individuals, identifying 518 genome-wide significant loci (301 novel), explaining 20% of its variance. We identified 13 bone fracture loci, all associated with estimated BMD (eBMD), in ~1.2 million individuals. We then identified target genes enriched for genes known to influence bone density and strength (maximum odds ratio (OR) = 58, P= 1 × 10−75) from cell-specific features, including chromatin conformation and accessible chromatin sites. We next performed rapid-throughput skeletal phenotyping of 126 knockout mice with disruptions in predicted target genes and found an increased abnormal skeletal phenotype frequency compared to 526 unselected lines (P< 0.0001). In-depth analysis of one gene, DAAM2, showed a disproportionate decrease in bone strength relative to mineralization. This genetic atlas provides evidence linking associated SNPs to causal genes, offers new insight into osteoporosis pathophysiology, and highlights opportunities for drug development.

Published
2019
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3. Author Correction: An atlas of genetic influences on osteoporosis in humans and mice

Author

Morris, John A., Kemp, John P., Youlten, Scott E., Laurent, Laetitia, Logan, John G., Chai, Ryan C., Vulpescu, Nicholas A., Forgetta, Vincenzo, Kleinman, Aaron, Mohanty, Sindhu T., Sergio, C. Marcelo, Quinn, Julian, Nguyen-Yamamoto, Loan, Luco, Aimee-Lee, Vijay, Jinchu, Simon, Marie-Michelle, Pramatarova, Albena, Medina-Gomez, Carolina, Trajanoska, Katerina, Ghirardello, Elena J., Butterfield, Natalie C., Curry, Katharine F., Leitch, Victoria D., Sparkes, Penny C., Adoum, Anne-Tounsia, Mannan, Naila S., Komla-Ebri, Davide S. K., Pollard, Andrea S., Dewhurst, Hannah F., Hassall, Thomas A. D., Beltejar, Michael-John G., Adams, Douglas J., Vaillancourt, Suzanne M., Kaptoge, Stephen, Baldock, Paul, Cooper, Cyrus, Reeve, Jonathan, Ntzani, Evangelia E., Evangelou, Evangelos, Ohlsson, Claes, Karasik, David, Rivadeneira, Fernando, Kiel, Douglas P., Tobias, Jonathan H., Gregson, Celia L., Harvey, Nicholas C., Grundberg, Elin, Goltzman, David, Adams, David J., Lelliott, Christopher J., Hinds, David A., Ackert-Bicknell, Cheryl L., Hsu, Yi-Hsiang, Maurano, Matthew T., Croucher, Peter I., Williams, Graham R., Bassett, J. H. Duncan, Evans, David M., and Richards, J. Brent

Abstract

In the version of this article initially published, in Fig. 5a, the data in the right column of ‘DAAM2 gRNA1’ were incorrectly plotted as circles indicating ‘untreated’ rather than as squares indicating ‘treated’. The error has been corrected in the HTML and PDF versions of the article.

Published
2019
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