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Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.

Autor: Li B; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.; Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China., Zhan Y; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Liang Q; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.; Shanghai Key Laboratory of Clinical Geriatric Medicine, Research Center on Aging and Medicine, Fudan University, Shanghai, 200032, China., Xu C; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.; Shanghai Key Laboratory of Clinical Geriatric Medicine, Research Center on Aging and Medicine, Fudan University, Shanghai, 200032, China., Zhou X; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Cai H; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Zheng Y; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Guo Y; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Wang L; Department of Biochemistry, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Qiu W; Department of Biochemistry, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Cui B; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Lu C; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.; Shanghai Key Laboratory of Clinical Geriatric Medicine, Research Center on Aging and Medicine, Fudan University, Shanghai, 200032, China., Qian R; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.; Shanghai Key Laboratory of Clinical Geriatric Medicine, Research Center on Aging and Medicine, Fudan University, Shanghai, 200032, China., Zhou P; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Chen H; Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai, 200032, China., Liu Y; Department of Biochemistry, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Chen S; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Li X; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China., Sun N; Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China. sunning@fudan.edu.cn.; Shanghai Key Lab of Birth Defect, Children's Hospital of Fudan University, Shanghai, 201102, China. sunning@fudan.edu.cn.; Shanghai Key Laboratory of Clinical Geriatric Medicine, Research Center on Aging and Medicine, Fudan University, Shanghai, 200032, China. sunning@fudan.edu.cn.

Publikováno v: Protein & cell [Protein Cell] 2022 Jan; Vol. 13 (1), pp. 65-71. Date of Electronic Publication: 2021 Apr 22.

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Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy

Autor: Chao Lu, Sifeng Chen, Wenqing Qiu, Qianqian Liang, Ruizhe Qian, Baiping Cui, Bin Li, Ning Sun, Huanhuan Cai, Yongkun Zhan, Xiaobo Li, Yufan Zheng, Haiyan Chen, Ping Zhou, Yifan Guo, Lei Wang, Chen Xu, Xinyan Zhou, Yun Liu

Publikováno v: Protein & Cell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2232019f8bcacbd25d41fd5c5153a1
https://pubmed.ncbi.nlm.nih.gov/33884582

Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly

Autor: Maojia Xu, Eva-Lena Stattin, Georgina Shaw, Dick Heinegård, Gareth Sullivan, Ian Wilmut, Alan Colman, Patrik Önnerfjord, Areej Khabut, Anders Aspberg, Peter Dockery, Timothy Hardingham, Mary Murphy, Frank Barry

Publikováno v: Stem Cells Translational Medicine, Vol 5, Iss 9, Pp 1171-1181 (2016)

Familial osteochondritis dissecans (FOCD) is an inherited skeletal defect characterized by the development of large cartilage lesions in multiple joints, short stature, and early onset of severe osteoarthritis. It is associated with a heterozygous mu

Externí odkaz: https://doaj.org/article/f921e2842d114179b88d89856f7577c0