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- [1] Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2021, 297 (01)Suay-Corredera, Carmen论文数: 0 引用数: 0 h-index: 0机构: Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainRosaria Pricolo, Maria论文数: 0 引用数: 0 h-index: 0机构: Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Univ Napoli Federico II, Dipartimento Med Mol & Biotecnol Med, Naples, Italy Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainHerrero-Galan, Elias论文数: 0 引用数: 0 h-index: 0机构: Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainVelazquez-Carreras, Diana论文数: 0 引用数: 0 h-index: 0机构: Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainSanchez-Ortiz, David论文数: 0 引用数: 0 h-index: 0机构: Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainGarcia-Giustiniani, Diego论文数: 0 引用数: 0 h-index: 0机构: Hlth Code A, La Coruna, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainDelgado, Javier论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, EMBL CRG Syst Biol Res Unit, Barcelona, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainJose Galano-Frutos, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, Fac Ciencias, Zaragoza, Spain Univ Zaragoza, Biocomputat & Complex Syst Phys Inst BIFI, Joint Units BIFI IQFR CSIC & GBs CSIC, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainGarcia-Cebollada, Helena论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, Fac Ciencias, Zaragoza, Spain Univ Zaragoza, Biocomputat & Complex Syst Phys Inst BIFI, Joint Units BIFI IQFR CSIC & GBs CSIC, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainVilches, Silvia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Hierro, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain European Reference Network Rare & Low Prevalence, Murcia, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainDominguez, Fernando论文数: 0 引用数: 0 h-index: 0机构: Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Hosp Univ Puerta Hierro, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain European Reference Network Rare & Low Prevalence, Murcia, Spain Ctr Invest Biomed Red Enfermedades Cardiovasc CIB, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainSabater Molina, Maria论文数: 0 引用数: 0 h-index: 0机构: European Reference Network Rare & Low Prevalence, Murcia, Spain Hosp C Univ Virgen Arrixaca, Murcia, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainBarriales-Villa, Roberto论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Cardiovasc CIB, Madrid, Spain Univ A Coruna, Serv Galego Saude SERGAS, Unidad Cardiopatias Familiares,Serv Galego Saude, Inst Invest Biomed Coruna INIBIC,Complexo Hosp Un, La Coruna, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainFrisso, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Napoli Federico II, Dipartimento Med Mol & Biotecnol Med, Naples, Italy Scarl, CEINGE Biotecnol Avanzate, Zaragoza, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainSancho, Javier论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, Fac Ciencias, Zaragoza, Spain Univ Zaragoza, Biocomputat & Complex Syst Phys Inst BIFI, Joint Units BIFI IQFR CSIC & GBs CSIC, Madrid, Spain Aragon Hlth Res Inst IIS Aragon, Zaragoza, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainSerrano, Luis论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, EMBL CRG Syst Biol Res Unit, Barcelona, Spain Inst Catalana Recerca & Estudis Avancats ICREA, Madrid, Spain Univ Pompeu Fabra UPF, Barcelona, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainGarcia-Pavia, Pablo论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Hierro, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain European Reference Network Rare & Low Prevalence, Murcia, Spain Ctr Invest Biomed Red Enfermedades Cardiovasc CIB, Madrid, Spain Univ Francisco Vitoria UFV, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainMonserrat, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Hlth Code A, La Coruna, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, SpainAlegre-Cebollada, Jorge论文数: 0 引用数: 0 h-index: 0机构: Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain
- [2] Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy[J]. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (03): : 165 - 167Lopes, Luis R.论文数: 0 引用数: 0 h-index: 0机构: Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, England UCL, Inst Cardiovasc Sci, UCL Ctr Heart Muscle Dis, London, England European Reference Network Rare & Low Prevalence, London, England Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandBarbosa, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Fac Med, Inst Med Mol Joao Lobo Antunes, Lisbon, Portugal Univ Lisbon, Fac Ciencias, LASIGE, Lisbon, Portugal Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandTorrado, Mario论文数: 0 引用数: 0 h-index: 0机构: Univ A Coruna, Inst Hlth Sci, La Coruna, Spain Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandQuinn, Ellie论文数: 0 引用数: 0 h-index: 0机构: Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, England Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandMerino, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Burgos, Dept Cardiol, La Coruna, Spain Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandOchoa, Juan Pablo论文数: 0 引用数: 0 h-index: 0机构: Hlth Code, Dept Cardiol, La Coruna, Spain Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandJager, Joanna论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, UCL Ctr Heart Muscle Dis, London, England Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandFutema, Marta论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, UCL Ctr Heart Muscle Dis, London, England Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandCarmo-Fonseca, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Fac Med, Inst Med Mol Joao Lobo Antunes, Lisbon, Portugal Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandMonserrat, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Hlth Code, Dept Cardiol, La Coruna, Spain Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandSyrris, Petros论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, UCL Ctr Heart Muscle Dis, London, England Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, EnglandElliott, Perry M.论文数: 0 引用数: 0 h-index: 0机构: Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, England UCL, Inst Cardiovasc Sci, UCL Ctr Heart Muscle Dis, London, England European Reference Network Rare & Low Prevalence, London, England Barts Hlth NHS Trust, St Bartholomews Hosp, Inherited Cardiovasc Dis Unit, London, England
- [3] Inhibition of HSC70 alleviates hypertrophic cardiomyopathy pathology in human induced pluripotent stem cell-derived cardiomyocytes with a MYBPC3 mutation[J]. CLINICAL AND TRANSLATIONAL MEDICINE, 2021, 11 (12):Qiu, Hangyuan论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaSun, Yaxun论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaPan, Ziwei论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Key Lab Combined Multiorgan Transplantat, Minist Publ Hlth,Sch Med, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Inst Translat Med, Hangzhou, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaZhou, Jingjun论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Key Lab Combined Multiorgan Transplantat, Minist Publ Hlth,Sch Med, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Inst Translat Med, Hangzhou, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaWang, Hongkun论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Key Lab Combined Multiorgan Transplantat, Minist Publ Hlth,Sch Med, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Inst Translat Med, Hangzhou, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaWang, Xiaochen论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Key Lab Combined Multiorgan Transplantat, Minist Publ Hlth,Sch Med, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Inst Translat Med, Hangzhou, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaCai, Dongsheng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaFu, Guosheng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaGong, Tingyu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Key Lab Combined Multiorgan Transplantat, Minist Publ Hlth,Sch Med, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Inst Translat Med, Hangzhou, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaJiang, Chenyang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R ChinaLiang, Ping论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Key Lab Combined Multiorgan Transplantat, Minist Publ Hlth,Sch Med, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Inst Translat Med, Hangzhou, Peoples R China Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Cardiol, Sch Med, 3 Qingchun East Rd, Hangzhou 310016, Peoples R China
- [4] Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations[J]. STEM CELL RESEARCH, 2024, 76论文数: 引用数: h-index:机构:Jager, Joanna论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London Hosp, Inst Cardiovasc Sci, Ctr Heart Muscle Dis, London, England Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, PortugalFurtado, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Associate Lab Inst Hlth & Bioecon i4HB, Inst Super Tecn, i4HB Inst Hlth & Bioecon, Lisbon, Portugal Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, PortugalCarvalho, Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Associate Lab Inst Hlth & Bioecon i4HB, Inst Super Tecn, i4HB Inst Hlth & Bioecon, Lisbon, Portugal Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, PortugalCabral, Joaquim M. S.论文数: 0 引用数: 0 h-index: 0机构: Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, Portugal Univ Lisbon, Dept Bioengn, Inst Super Tecn, Lisbon, Portugal Univ Lisbon, Associate Lab Inst Hlth & Bioecon i4HB, Inst Super Tecn, i4HB Inst Hlth & Bioecon, Lisbon, Portugal Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, PortugalBrito, Dulce论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Heart & Vessels Dept, Cardiol Div, Lisbon, Portugal Univ Lisbon, Ctr Cardiovasc Univ Lisboa CCUL RISE, Fac Med, Lisbon, Portugal Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, PortugalCarmo-Fonseca, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Dept Bioengn, Inst Super Tecn, Lisbon, Portugal Univ Lisbon, Fac Med, Inst Med Mol Joao Lobo Antunes, Lisbon, Portugal Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, PortugalMartins, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Fac Med, Inst Med Mol Joao Lobo Antunes, Lisbon, Portugal Univ Lisbon, Fac Med, Inst Med Mol Joao Lobo Antunes, Lisbon, Portugal Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, Portugalda Rocha, Simao Teixeira论文数: 0 引用数: 0 h-index: 0机构: Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, Portugal Univ Lisbon, Dept Bioengn, Inst Super Tecn, Lisbon, Portugal Univ Lisbon, Associate Lab Inst Hlth & Bioecon i4HB, Inst Super Tecn, i4HB Inst Hlth & Bioecon, Lisbon, Portugal Biosci Univ Lisboa, iBB Inst Bioengn, Lisbon, Portugal
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- [6] BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status[J]. Netherlands Heart Journal, 2021, 29 : 318 - 329M. Jansen论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtI. Christiaans论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtS. N. van der Crabben论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtM. Michels论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtR. Huurman论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtY. M. Hoedemaekers论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtD. Dooijes论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtJ. D. H. Jongbloed论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtL. G. Boven论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtR. H. Lekanne Deprez论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtA. A. M. Wilde论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtJ. J. M. Jans论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtJ. van der Velden论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtR. A. de Boer论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtJ. P. van Tintelen论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtF. W. Asselbergs论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre UtrechtA. F. Baas论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Genetics, University Medical Centre Utrecht
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