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1 Study visible to you, out of a total of 1

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

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) ...

Submitter: Charles Demurjian

Investigation: Shoulders Lab Individual Publications

Assays: Cell Imaging - Data Linked, Gene Expression Analysis - Data Linked, LC - MS/MS (Proteomics) - Data Linked, Library Creation - Metadata, Proteomics Analysis - Data Linked, RNA Extraction - Metadata, Short Read Sequencing - Data Linked, iPSC Culture and Chondronoid Formation - Metadata

Snapshots: Snapshot 1

Created: 3rd Jun 2025 at 15:41, Last updated: 9th Jun 2025 at 14:07

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