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Start Over Author "Butterfield, Natalie C." Publisher cold spring harbor laboratory
5 results on '"Butterfield, Natalie C."'

1. Osteocyte Transcriptome Mapping Identifies a Molecular Landscape Controlling Skeletal Homeostasis and Susceptibility to Skeletal Disease

Author

Youlten, Scott E., primary, Kemp, John P., additional, Logan, John G., additional, Ghirardello, Elena J., additional, Sergio, Claudio M., additional, Dack, Michael R. G., additional, Guilfoyle, Siobhan E., additional, Leitch, Victoria D., additional, Butterfield, Natalie C., additional, Komla-Ebri, Davide, additional, Chai, Ryan C., additional, Corr, Alexander P., additional, Smith, James T., additional, Mohanty, Sindhu, additional, Morris, John A., additional, McDonald, Michelle M., additional, Quinn, Julian M. W., additional, McGlade, Amelia R., additional, Bartonicek, Nenad, additional, Jansson, Matt, additional, Hatzikotoulas, Konstantinos, additional, Irving, Melita D., additional, Beleza-Meireles, Ana, additional, Rivadeneira, Fernando, additional, Duncan, Emma, additional, Richards, J. Brent, additional, Adams, David J., additional, Lelliott, Christopher J., additional, Brink, Robert, additional, Phan, Tri Giang, additional, Eisman, John A., additional, Evans, David M., additional, Zeggini, Eleftheria, additional, Baldock, Paul A., additional, Bassett, J. H. Duncan, additional, Williams, Graham R., additional, and Croucher, Peter I., additional

Published
2020
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2. Decoding the genomic basis of osteoarthritis

Author

Steinberg, Julia, primary, Southam, Lorraine, additional, Butterfield, Natalie C, additional, Roumeliotis, Theodoros I, additional, Fontalis, Andreas, additional, Clark, Matthew J, additional, Jayasuriya, Raveen L, additional, Swift, Diane, additional, Shah, Karan M, additional, Curry, Katherine F, additional, Brooks, Roger A, additional, McCaskie, Andrew W, additional, Lelliott, Christopher J., additional, Choudhary, Jyoti S, additional, Bassett, JH Duncan, additional, Williams, Graham R, additional, Wilkinson, J Mark, additional, and Zeggini, Eleftheria, additional

Published
2019
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3. Accelerating functional gene discovery in osteoarthritis

Author

Butterfield, Natalie C., primary, Curry, Katherine F., additional, Steinberg, Julia, additional, Dewhurst, Hannah, additional, Komla-Ebri, Davide, additional, Mannan, Naila S., additional, Adoum, Anne-Tounsia, additional, Leitch, Victoria D., additional, Logan, John G., additional, Waung, Julian A., additional, Ghirardello, Elena, additional, Southam, Lorraine, additional, Youlten, Scott E., additional, Mark Wilkinson, J, additional, McAninch, Elizabeth A., additional, Vancollie, Valerie E., additional, Kussy, Fiona, additional, White, Jacqueline K., additional, Lelliott, Christopher J., additional, Adams, David J., additional, Jacques, Richard, additional, Bianco, Antonio C., additional, Boyde, Alan, additional, Zeggini, Eleftheria, additional, Croucher, Peter I., additional, Williams, Graham R., additional, and Duncan Bassett, J. H., additional

Published
2019
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4. An Atlas of Human and Murine Genetic Influences on Osteoporosis

Author

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

Published
2018
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5. Accelerating functional gene discovery in osteoarthritis

Author

Hannah F. Dewhurst, Peter I. Croucher, Julian A. Waung, Elena J. Ghirardello, Jacqueline K. White, Julia Steinberg, Anne-Tounsia Adoum, J. Mark Wilkinson, Graham R. Williams, Alan Boyde, John G. Logan, Valerie E. Vancollie, Naila S. Mannan, J. H. Duncan Bassett, Fiona Kussy, Natalie C. Butterfield, Davide Komla-Ebri, Lorraine Southam, Antonio C. Bianco, Scott E. Youlten, Victoria D. Leitch, Katherine F. Curry, Christopher J. Lelliott, David J. Adams, Elizabeth A. McAninch, Eleftheria Zeggini, Richard Jacques, Wellcome Trust, Commission of the European Communities, European Commission, Butterfield, Natalie C [0000-0002-5209-7508], Steinberg, Julia [0000-0002-0585-2312], Komla-Ebri, Davide [0000-0002-8381-5381], Leitch, Victoria D [0000-0001-5760-2887], Youlten, Scott E [0000-0001-9314-2945], Wilkinson, J Mark [0000-0001-5577-3674], McAninch, Elizabeth A [0000-0003-3993-4663], Vancollie, Valerie E [0000-0003-1547-1975], Lelliott, Christopher J [0000-0001-8087-4530], Adams, David J [0000-0001-9490-0306], Jacques, Richard [0000-0001-6710-5403], Boyde, Alan [0000-0002-9871-5498], Zeggini, Eleftheria [0000-0003-4238-659X], Croucher, Peter I [0000-0002-7102-2413], Williams, Graham R [0000-0002-8555-8219], Bassett, JH Duncan [0000-0003-0817-0082], and Apollo - University of Cambridge Repository

Subjects
musculoskeletal diseases, 0301 basic medicine, Science, Mutant, General Physics and Astronomy, Osteoarthritis, Bioinformatics, Iodide Peroxidase, Bone and Bones, General Biochemistry, Genetics and Molecular Biology, Article, Gonadotropin-Releasing Hormone, International Knockout Mouse Consortium, Mice, 03 medical and health sciences, 0302 clinical medicine, Genome editing, Drug Discovery, medicine, Animals, Paired Box Transcription Factors, CRISPR, Clustered Regularly Interspaced Short Palindromic Repeats, Genetic Predisposition to Disease, Bone, Gene, Genetic Association Studies, 030304 developmental biology, Gene Editing, Mice, Knockout, 030203 arthritis & rheumatology, 0303 health sciences, Multidisciplinary, Drug discovery, Cas9, business.industry, General Chemistry, medicine.disease, Publisher Correction, Phenotype, 3. Good health, Disease Models, Animal, 030104 developmental biology, Cartilage, CRISPR-Cas Systems, business
Abstract

Osteoarthritis causes debilitating pain and disability, resulting in a considerable socioeconomic burden, yet no drugs are available that prevent disease onset or progression. Here, we develop, validate and use rapid-throughput imaging techniques to identify abnormal joint phenotypes in randomly selected mutant mice generated by the International Knockout Mouse Consortium. We identify 14 genes with functional involvement in osteoarthritis pathogenesis, including the homeobox gene Pitx1, and functionally characterize 6 candidate human osteoarthritis genes in mouse models. We demonstrate sensitivity of the methods by identifying age-related degenerative joint damage in wild-type mice. Finally, we phenotype previously generated mutant mice with an osteoarthritis-associated polymorphism in the Dio2 gene by CRISPR/Cas9 genome editing and demonstrate a protective role in disease onset with public health implications. We hope this expanding resource of mutant mice will accelerate functional gene discovery in osteoarthritis and offer drug discovery opportunities for this common, incapacitating chronic disease., Osteoarthritis is a chronic, heritable disease with no available treatment. Here, the authors show that a validated, rapid-throughput joint phenotyping pipeline detects osteoarthritis in the mouse knee following surgical provocation, in aging and after single gene deletion or point mutation.

Published
2019

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