Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis
Yammine, Kathryn M., Mirda Abularach, Sophia, Sampurno, Lisa, Bateman, John F., Lamandé, Shireen R., Shoulders, Matthew D.
Published in Stem cell research (01.03.2023)
Published in Stem cell research (01.03.2023)
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CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A
Kung, Louise H.W., Sampurno, Lisa, Yammine, Kathryn M., Graham, Alison, McDonald, Penny, Bateman, John F., Shoulders, Matthew D., Lamandé, Shireen R.
Published in Stem cell research (01.10.2020)
Published in Stem cell research (01.10.2020)
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An outcome-defining role for the triple-helical domain in regulating collagen-I assembly
Yammine, Kathryn M, Li, Rasia C, Borgula, Isabella M, Mirda Abularach, Sophia, DiChiara, Andrew S, Raines, Ronald T, Shoulders, Matthew D
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2024)
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2024)
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ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis
Yammine, Kathryn M, Mirda Abularach, Sophia, Kim, Seo-Yeon, Bikovtseva, Agata A, Lilianty, Jinia, Butty, Vincent L, Schiavoni, Richard P, Bateman, John F, Lamandé, Shireen R, Shoulders, Matthew D
Published in Life science alliance (01.09.2024)
Published in Life science alliance (01.09.2024)
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Human cartilage model of the precocious osteoarthritis-inducing COL2A1 p.Arg719Cys reveals pathology-driving matrix defects and a failure of the ER proteostasis network to recognize the defective procollagen-II
Yammine, Kathryn M, Abularach, Sophia Mirda, Xiong, Michael, Kim, Seo-Yeon, Bikovtseva, Agata A, Butty, Vincent L, Schiavoni, Richard P, Bateman, John F, Lamandé, Shireen R, Shoulders, Matthew D
Published in bioRxiv (09.11.2024)
Published in bioRxiv (09.11.2024)
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Journal Article
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ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis
Yammine, Kathryn M, Abularach, Sophia Mirda, Kim, Seo-Yeon, Bikovtseva, Agata A, Lilianty, Jinia, Butty, Vincent L, Schiavoni, Richard P, Bateman, John F, Lamandé, Shireen R, Shoulders, Matthew D
Published in bioRxiv (09.03.2024)
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Published in bioRxiv (09.03.2024)
Journal Article