共 27 条
Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing
被引:80
作者:

Tse, Hung-Fat
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China
Univ Hong Kong, Res Ctr Heart Brain Hormone & Hlth Aging, Hong Kong, Hong Kong, Peoples R China
Univ Hong Kong, Hong Kong Guangdong Joint Lab Stem Cell & Regener, Hong Kong, Hong Kong, Peoples R China
Guangzhou Inst Biomed & Hlth, Guangzhou, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Ho, Jenny C. Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China
Univ Hong Kong, Res Ctr Heart Brain Hormone & Hlth Aging, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Choi, Shing-Wan
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h-index: 0
机构:
Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Lee, Yee-Ki
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Butler, Amy W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China
Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Ng, Kwong-Man
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Siu, Chung-Wah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China
Univ Hong Kong, Res Ctr Heart Brain Hormone & Hlth Aging, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Simpson, Michael A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London WC2R 2LS, England Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Lai, Wing-Hon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Chan, Yau-Chi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Au, Ka-Wing
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Zhang, Jinqiu
论文数: 0 引用数: 0
h-index: 0
机构:
ASTAR, Inst Med Biol, Stem Cell Dis Models, Singapore, Singapore Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Lay, Kenneth W. J.
论文数: 0 引用数: 0
h-index: 0
机构:
ASTAR, Inst Med Biol, Stem Cell Dis Models, Singapore, Singapore Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Esteban, Miguel A.
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, South China Inst Stem Cell Biol & Regenerat Med, Key Lab Regenerat Biol, Guangzhou, Guangdong, Peoples R China
Univ Hong Kong, Hong Kong Guangdong Joint Lab Stem Cell & Regener, Hong Kong, Hong Kong, Peoples R China
Guangzhou Inst Biomed & Hlth, Guangzhou, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Nicholls, John M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Dept Pathol, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Colman, Alan
论文数: 0 引用数: 0
h-index: 0
机构:
ASTAR, Inst Med Biol, Stem Cell Dis Models, Singapore, Singapore Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China

Sham, Pak C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China
Univ Hong Kong, Ctr Genom Sci, Hong Kong, Hong Kong, Peoples R China
Univ Hong Kong, Li Ka Shing Fac Med, State Key Lab Cognit & Brain Sci, Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China
机构:
[1] Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Cardiol, Hong Kong, Hong Kong, Peoples R China
[2] Univ Hong Kong, Res Ctr Heart Brain Hormone & Hlth Aging, Hong Kong, Hong Kong, Peoples R China
[3] Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China
[4] Univ Hong Kong, Dept Pathol, Hong Kong, Hong Kong, Peoples R China
[5] Univ Hong Kong, Ctr Genom Sci, Hong Kong, Hong Kong, Peoples R China
[6] Univ Hong Kong, Li Ka Shing Fac Med, State Key Lab Cognit & Brain Sci, Hong Kong, Hong Kong, Peoples R China
[7] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England
[8] Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London WC2R 2LS, England
[9] ASTAR, Inst Med Biol, Stem Cell Dis Models, Singapore, Singapore
[10] Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, South China Inst Stem Cell Biol & Regenerat Med, Key Lab Regenerat Biol, Guangzhou, Guangdong, Peoples R China
[11] Univ Hong Kong, Hong Kong Guangdong Joint Lab Stem Cell & Regener, Hong Kong, Hong Kong, Peoples R China
[12] Guangzhou Inst Biomed & Hlth, Guangzhou, Peoples R China
关键词:
SKELETAL;
GENERATION;
MYOPATHY;
D O I:
10.1093/hmg/dds556
中图分类号:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号:
071010 ;
081704 ;
摘要:
In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). This mutation is predicted to cause three-dimensional structure changes of DES. Immunohistological and electron microscopy studies demonstrated diffuse abnormal DES aggregations in DCM-induced-pluripotent stem cell (iPSC)-derived cardiomyocytes, and control-iPSC-derived cardiomyocytes transduced with A285V-DES. DCM-iPSC-derived cardiomyocytes also exhibited functional abnormalities in vitro. This is the first demonstration that patient-specific iPSC-derived cardiomyocytes can be used to provide histological and functional confirmation of a suspected genetic basis for DCM identified by WES.
引用
收藏
页码:1395 / 1403
页数:9
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机构:
Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark

Nissen, P. H.
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机构:
Aarhus Univ Hosp, Dept Clin Biochem, DK-8000 Aarhus C, Denmark Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark

Berge, K. E.
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机构:
Rigshosp, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark

Leren, T. P.
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机构:
Rigshosp, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark

Kristensen, I. B.
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Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark

Jensen, H. K.
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机构:
Aarhus Univ Hosp, Dept Cardiol, DK-8200 Aarhus N, Denmark Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark

Banner, J.
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Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark Aarhus Univ, Dept Forens Med, Fac Hlth Sci, DK-8200 Aarhus N, Denmark