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5 results on '"Sergio, Claudio M."'

1. Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

Author

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

Published
2021
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3. 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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4. A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation

Author

Oakes, Samantha R., primary, Gallego-Ortega, David, additional, Stanford, Prudence M., additional, Junankar, Simon, additional, Au, Wendy Wing Yee, additional, Kikhtyak, Zoya, additional, von Korff, Anita, additional, Sergio, Claudio M., additional, Law, Andrew M. K., additional, Castillo, Lesley E., additional, Allerdice, Stephanie L., additional, Young, Adelaide I. J., additional, Piggin, Catherine, additional, Whittle, Belinda, additional, Bertram, Edward, additional, Naylor, Matthew J., additional, Roden, Daniel L., additional, Donovan, Jesse, additional, Korennykh, Alexei, additional, Goodnow, Christopher C., additional, O’Bryan, Moira K., additional, and Ormandy, Christopher J., additional

Published
2017
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5. Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

Author

Siobhan E. Guilfoyle, John A. Morris, Scott E. Youlten, Graham R. Williams, Michael R.G. Dack, Elena J. Ghirardello, Amelia R. McGlade, Davide Komla-Ebri, John P. Kemp, Paul A. Baldock, David J. Adams, David M. Evans, J. H. Duncan Bassett, John G. Logan, Victoria D. Leitch, Fernando Rivadeneira, Eleftheria Zeggini, Michelle M. McDonald, Ryan C. Chai, Tri Giang Phan, Nenad Bartonicek, Melita Irving, Konstantinos Hatzikotoulas, Christopher J. Lelliott, Matt Jansson, Robert Brink, James T. Smith, Peter I. Croucher, Ana Beleza-Meireles, Claudio M Sergio, Sindhu T. Mohanty, J. Brent Richards, Alexander P. Corr, Natalie C. Butterfield, Emma L. Duncan, John A. Eisman, Julian M.W. Quinn, Youlten, Scott E [0000-0001-9314-2945], Kemp, John P [0000-0002-9105-2249], Sergio, Claudio M [0000-0002-5426-0583], Leitch, Victoria D [0000-0001-5760-2887], Butterfield, Natalie C [0000-0002-5209-7508], Komla-Ebri, Davide [0000-0002-8381-5381], Corr, Alexander P [0000-0002-8450-012X], Smith, James T [0000-0003-0528-0649], Mohanty, Sindhu T [0000-0001-7512-8808], Morris, John A [0000-0003-2769-8202], Quinn, Julian MW [0000-0001-9674-9646], Hatzikotoulas, Konstantinos [0000-0002-4699-3672], Rivadeneira, Fernando [0000-0001-9435-9441], Duncan, Emma [0000-0002-8143-4403], Richards, J Brent [0000-0002-3746-9086], Adams, David J [0000-0001-9490-0306], Lelliott, Christopher J [0000-0001-8087-4530], Phan, Tri Giang [0000-0002-4909-2984], Evans, David M [0000-0003-0663-4621], Zeggini, Eleftheria [0000-0003-4238-659X], Bassett, JH Duncan [0000-0003-0817-0082], Williams, Graham R [0000-0002-8555-8219], Croucher, Peter I [0000-0002-7102-2413], Apollo - University of Cambridge Repository, Wellcome Trust, and Internal Medicine

Subjects
0301 basic medicine, Male, General Physics and Astronomy, Transcriptome, Mice, 0302 clinical medicine, Skeletal disease, Gene expression, Homeostasis, Mice, Knockout, 0303 health sciences, Multidisciplinary, Age Factors, RNA sequencing, Skeleton (computer programming), Cell biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Osteocyte, Knockout mouse, Female, Bone Diseases, Sequence analysis, Bioinformatics, Science, Biology, Osteocytes, General Biochemistry, Genetics and Molecular Biology, Article, Bone and Bones, 03 medical and health sciences, Gene expression analysis, Sex Factors, SDG 3 - Good Health and Well-being, medicine, Animals, Humans, Gene, Skeleton, 030304 developmental biology, Sequence Analysis, RNA, Computational Biology, General Chemistry, 030104 developmental biology, Osteoporosis, Bone structure, 030217 neurology & neurosurgery, Function (biology)
Abstract

Osteocytes are master regulators of the skeleton. We mapped the transcriptome of osteocytes from different skeletal sites, across age and sexes in mice to reveal genes and molecular programs that control this complex cellular-network. We define an osteocyte transcriptome signature of 1239 genes that distinguishes osteocytes from other cells. 77% have no previously known role in the skeleton and are enriched for genes regulating neuronal network formation, suggesting this programme is important in osteocyte communication. We evaluated 19 skeletal parameters in 733 knockout mouse lines and reveal 26 osteocyte transcriptome signature genes that control bone structure and function. We showed osteocyte transcriptome signature genes are enriched for human orthologs that cause monogenic skeletal disorders (P = 2.4 × 10−22) and are associated with the polygenic diseases osteoporosis (P = 1.8 × 10−13) and osteoarthritis (P = 1.6 × 10−7). Thus, we reveal the molecular landscape that regulates osteocyte network formation and function and establish the importance of osteocytes in human skeletal disease., Osteocytes are the master regulatory cells within the skeleton. Here, the authors map the transcriptome of osteocytes from diverse skeletal sites, ages and between sexes and identify an osteocyte transcriptome signature associated with rare skeletal disorders and common complex skeletal diseases.

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