Shoulders Lab Individual Publications

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SEEK ID: https://fairdomhub.org/investigations/725

Projects: Shoulders Lab

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Creators and Submitter

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Charles Demurjian

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Charles Demurjian

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Views: 170

Created: 3rd Jun 2025 at 15:39

Last updated: 10th Jun 2025 at 15:16

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Assays (9)
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Charles Demurjian

Projects: Hi-IMPAcTB, MIT SRP, MetNet, Endometriosis, Cancer Systems Biology Consortium (CSBC), Shoulders Lab

Institutions: Massachusetts Institute of Technology

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NExtSEEK

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Projects: MIT SRP, Hi-IMPAcTB, MetNet, Endometriosis, Cancer Systems Biology Consortium (CSBC), Shoulders Lab

Web page: https://nextseek.mit.edu/

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Shoulders Lab

Shoulders Lab Collagen Publications

Programme: NExtSEEK

Public web page: Not specified

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Human cartilage model of the precocious osteoarthritis-inducing COL2A1 p.R719C reveals pathology-driving matrix defects and a failure of the ER proteostasis network to recognize the defective procollagen-II

Shoulders Lab

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Charles Demurjian

Kathryn M. Yammine, Sophia Mirda Abularach, Michael Xiong, Seo-yeon Kim, Agata A. Bikovtseva, Vincent L. Butty, Richard P. Schiavoni, John F. Bateman, Shireen R. Lamandé, and Matthew D. Shoulders

A dbGaP Submission is underway and metadata will be updated at the completion of submission. The remaining of the data and metadata are available here.

DOI: 10.1101/2024.11.07.622468.

Abstract:

Objectives Mutations in the procollagen-II gene (COL2A1) ...