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For: Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet 2012;21:2039-53. [PMID: 22286171 PMCID: PMC3315208 DOI: 10.1093/hmg/dds022] [Citation(s) in RCA: 63] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/06/2011] [Accepted: 01/23/2012] [Indexed: 01/07/2023]  Open
Number Cited by Other Article(s)
1
van den Dolder FW, Dinani R, Warnaar VAJ, Vučković S, Passadouro AS, Nassar AA, Ramsaroep AX, Burchell GB, Schoonmade LJ, van der Velden J, Goversen B. Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review. JACC Basic Transl Sci 2025;10:511-546. [PMID: 40306862 DOI: 10.1016/j.jacbts.2024.10.017] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/26/2024] [Revised: 10/23/2024] [Accepted: 10/24/2024] [Indexed: 05/02/2025]
2
Li G, Zhao C, Wu L, Yan Y. Rapid progression of right ventricular dysfunction: a case report. BMC Cardiovasc Disord 2025;25:157. [PMID: 40055607 PMCID: PMC11887079 DOI: 10.1186/s12872-025-04601-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/04/2024] [Accepted: 02/24/2025] [Indexed: 05/13/2025]  Open
3
Bakhtiarizade MR, Heidari M, Ghanatghestani AHM. Comprehensive circular RNA profiling in various sheep tissues. Sci Rep 2024;14:26238. [PMID: 39482374 PMCID: PMC11527890 DOI: 10.1038/s41598-024-76940-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/22/2024] [Accepted: 10/17/2024] [Indexed: 11/03/2024]  Open
4
Newman NA, Burke MA. Dilated Cardiomyopathy: A Genetic Journey from Past to Future. Int J Mol Sci 2024;25:11460. [PMID: 39519012 PMCID: PMC11546582 DOI: 10.3390/ijms252111460] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/20/2024] [Revised: 10/21/2024] [Accepted: 10/23/2024] [Indexed: 11/16/2024]  Open
5
Xu X, Wang X, Li Y, Chen R, Wen H, Wang Y, Ma G. Research progress of ankyrin repeat domain 1 protein: an updated review. Cell Mol Biol Lett 2024;29:131. [PMID: 39420247 PMCID: PMC11488291 DOI: 10.1186/s11658-024-00647-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2024] [Accepted: 09/27/2024] [Indexed: 10/19/2024]  Open
6
Micolonghi C, Perrone F, Fabiani M, Caroselli S, Savio C, Pizzuti A, Germani A, Visco V, Petrucci S, Rubattu S, Piane M. Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review. Int J Mol Sci 2024;25:9787. [PMID: 39337275 PMCID: PMC11431948 DOI: 10.3390/ijms25189787] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2024] [Revised: 09/04/2024] [Accepted: 09/06/2024] [Indexed: 09/30/2024]  Open
7
Orgil BO, Purevjav E. Molecular Pathways and Animal Models of Cardiomyopathies. ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY 2024;1441:991-1019. [PMID: 38884766 DOI: 10.1007/978-3-031-44087-8_64] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/18/2024]
8
Zampieri M, Di Filippo C, Zocchi C, Fico V, Golinelli C, Spaziani G, Calabri G, Bennati E, Girolami F, Marchi A, Passantino S, Porcedda G, Capponi G, Gozzini A, Olivotto I, Ragni L, Favilli S. Focus on Paediatric Restrictive Cardiomyopathy: Frequently Asked Questions. Diagnostics (Basel) 2023;13:3666. [PMID: 38132249 PMCID: PMC10742619 DOI: 10.3390/diagnostics13243666] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2023] [Revised: 11/21/2023] [Accepted: 11/28/2023] [Indexed: 12/23/2023]  Open
9
Noureddine M, Gehmlich K. Structural and signaling proteins in the Z-disk and their role in cardiomyopathies. Front Physiol 2023;14:1143858. [PMID: 36935760 PMCID: PMC10017460 DOI: 10.3389/fphys.2023.1143858] [Citation(s) in RCA: 10] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2023] [Accepted: 02/21/2023] [Indexed: 03/06/2023]  Open
10
Orgil BO, Xu F, Munkhsaikhan U, Alberson NR, Bajpai AK, Johnson JN, Sun Y, Towbin JA, Lu L, Purevjav E. Echocardiography phenotyping in murine genetic reference population of BXD strains reveals significant QTLs associated with cardiac function and morphology. Physiol Genomics 2023;55:51-66. [PMID: 36534598 PMCID: PMC9902221 DOI: 10.1152/physiolgenomics.00120.2022] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/02/2022] [Revised: 12/14/2022] [Accepted: 12/14/2022] [Indexed: 12/23/2022]  Open
11
Sun B, Kekenes-Huskey PM. Myofilament-associated proteins with intrinsic disorder (MAPIDs) and their resolution by computational modeling. Q Rev Biophys 2023;56:e2. [PMID: 36628457 PMCID: PMC11070111 DOI: 10.1017/s003358352300001x] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/12/2023]
12
Genome Editing and Pathological Cardiac Hypertrophy. ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY 2023;1396:87-101. [DOI: 10.1007/978-981-19-5642-3_6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/04/2022]
13
Yang Z, Chen J, Li H, Lin Y. Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations. Rev Cardiovasc Med 2022;23:185. [PMID: 39077162 PMCID: PMC11273878 DOI: 10.31083/j.rcm2306185] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/18/2022] [Revised: 03/11/2022] [Accepted: 03/21/2022] [Indexed: 07/31/2024]  Open
14
Zheng M, Huang H, Zhu X, Ho H, Li L, Ji X. Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases. BMC Cardiovasc Disord 2022;22:240. [PMID: 35614389 PMCID: PMC9131548 DOI: 10.1186/s12872-022-02675-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/10/2021] [Accepted: 05/13/2022] [Indexed: 11/10/2022]  Open
15
Kucher AN, Sleptcov AA, Nazarenko MS. Genetic Landscape of Dilated Cardiomyopathy. RUSS J GENET+ 2022. [DOI: 10.1134/s1022795422030085] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
16
Genetic Insights into Primary Restrictive Cardiomyopathy. J Clin Med 2022;11:jcm11082094. [PMID: 35456187 PMCID: PMC9027761 DOI: 10.3390/jcm11082094] [Citation(s) in RCA: 10] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/14/2022] [Revised: 04/05/2022] [Accepted: 04/06/2022] [Indexed: 12/04/2022]  Open
17
Chintanaphol M, Orgil BO, Alberson NR, Towbin JA, Purevjav E. Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling. Rev Cardiovasc Med 2022;23:108. [PMID: 35345275 DOI: 10.31083/j.rcm2303108] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/18/2021] [Revised: 10/08/2021] [Accepted: 10/25/2021] [Indexed: 11/06/2022]  Open
18
Bang ML, Bogomolovas J, Chen J. Understanding the molecular basis of cardiomyopathy. Am J Physiol Heart Circ Physiol 2022;322:H181-H233. [PMID: 34797172 PMCID: PMC8759964 DOI: 10.1152/ajpheart.00562.2021] [Citation(s) in RCA: 15] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/13/2021] [Revised: 11/16/2021] [Accepted: 11/16/2021] [Indexed: 02/03/2023]
19
Filomena MC, Yamamoto DL, Carullo P, Medvedev R, Ghisleni A, Piroddi N, Scellini B, Crispino R, D'Autilia F, Zhang J, Felicetta A, Nemska S, Serio S, Tesi C, Catalucci D, Linke WA, Polishchuk R, Poggesi C, Gautel M, Bang ML. Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload. eLife 2021;10:e58313. [PMID: 34558411 PMCID: PMC8547954 DOI: 10.7554/elife.58313] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/27/2020] [Accepted: 09/23/2021] [Indexed: 12/13/2022]  Open
20
Kim KH, Pereira NL. Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure. Korean Circ J 2021;51:797-836. [PMID: 34327881 PMCID: PMC8484993 DOI: 10.4070/kcj.2021.0154] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/08/2021] [Accepted: 06/14/2021] [Indexed: 11/11/2022]  Open
21
Giri P, Mukhopadhyay A, Gupta M, Mohapatra B. Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure. Heart Fail Rev 2021;27:431-454. [PMID: 34245424 DOI: 10.1007/s10741-021-10125-6] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 05/25/2021] [Indexed: 12/26/2022]
22
Histopathological changes of myocytes in restrictive cardiomyopathy. Med Mol Morphol 2021;54:289-295. [PMID: 34057638 DOI: 10.1007/s00795-021-00293-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/24/2021] [Accepted: 05/27/2021] [Indexed: 10/21/2022]
23
Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies. J Clin Med 2021;10:jcm10091954. [PMID: 34062949 PMCID: PMC8125617 DOI: 10.3390/jcm10091954] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2021] [Revised: 04/26/2021] [Accepted: 04/28/2021] [Indexed: 12/14/2022]  Open
24
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy. Int J Mol Sci 2021;22:ijms22063058. [PMID: 33802723 PMCID: PMC8002584 DOI: 10.3390/ijms22063058] [Citation(s) in RCA: 35] [Impact Index Per Article: 8.8] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/18/2021] [Revised: 03/07/2021] [Accepted: 03/11/2021] [Indexed: 12/11/2022]  Open
25
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach. Int J Mol Sci 2021;22:ijms22020558. [PMID: 33429969 PMCID: PMC7827163 DOI: 10.3390/ijms22020558] [Citation(s) in RCA: 23] [Impact Index Per Article: 5.8] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2020] [Revised: 01/05/2021] [Accepted: 01/06/2021] [Indexed: 12/12/2022]  Open
26
Polavarapu K, Bardhan M, Anjanappa RM, Vengalil S, Preethish-Kumar V, Shingavi L, Chawla T, Nashi S, Mohan D, Arunachal G, Geetha TS, Ramprasad V, Nalini A. Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review. J Clin Neurol 2021;17:409-418. [PMID: 34184449 PMCID: PMC8242322 DOI: 10.3988/jcn.2021.17.3.409] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2020] [Revised: 02/16/2021] [Accepted: 02/16/2021] [Indexed: 11/17/2022]  Open
27
Li L, Li Y, Timothy Sembiring Meliala I, Kasim V, Wu S. Biological roles of Yin Yang 2: Its implications in physiological and pathological events. J Cell Mol Med 2020;24:12886-12899. [PMID: 32969187 PMCID: PMC7754051 DOI: 10.1111/jcmm.15919] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/20/2020] [Revised: 09/07/2020] [Accepted: 09/08/2020] [Indexed: 12/15/2022]  Open
28
Gozalo AS, Zerfas PM, Elkins WR, Gieseck RL. Retrospective Study of Intercalated Disk Defects Associated with Dilated Cardiomyopathy, Atrial Thrombosis, and Heart Failure in BALB/c Mice Deficient in IL4 Receptor α. Comp Med 2020;70:266-276. [PMID: 32384942 PMCID: PMC7287387 DOI: 10.30802/aalas-cm-19-000059] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/22/2019] [Revised: 07/01/2019] [Accepted: 10/22/2019] [Indexed: 12/21/2022]
29
Filomena MC, Yamamoto DL, Caremani M, Kadarla VK, Mastrototaro G, Serio S, Vydyanath A, Mutarelli M, Garofalo A, Pertici I, Knöll R, Nigro V, Luther PK, Lieber RL, Beck MR, Linari M, Bang M. Myopalladin promotes muscle growth through modulation of the serum response factor pathway. J Cachexia Sarcopenia Muscle 2020;11:169-194. [PMID: 31647200 PMCID: PMC7015241 DOI: 10.1002/jcsm.12486] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/04/2019] [Revised: 07/01/2019] [Accepted: 07/22/2019] [Indexed: 12/11/2022]  Open
30
Mastroianno S, Palumbo P, Castellana S, Leone MP, Massaro R, Potenza DR, Mazza T, Russo A, Castori M, Carella M, Di Stolfo G. Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy. Ann Noninvasive Electrocardiol 2019;25:e12687. [PMID: 31524317 DOI: 10.1111/anec.12687] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/09/2019] [Accepted: 08/12/2019] [Indexed: 12/25/2022]  Open
31
Brodehl A, Ebbinghaus H, Deutsch MA, Gummert J, Gärtner A, Ratnavadivel S, Milting H. Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies. Int J Mol Sci 2019;20:ijms20184381. [PMID: 31489928 PMCID: PMC6770343 DOI: 10.3390/ijms20184381] [Citation(s) in RCA: 37] [Impact Index Per Article: 6.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2019] [Revised: 08/29/2019] [Accepted: 09/03/2019] [Indexed: 12/17/2022]  Open
32
Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Skelet Muscle 2019;9:14. [PMID: 31133047 PMCID: PMC6535860 DOI: 10.1186/s13395-019-0199-9] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/31/2018] [Accepted: 04/25/2019] [Indexed: 12/11/2022]  Open
33
Herriges JC, Dugan SL, Lamb AN. Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature. Mol Cytogenet 2019;12:20. [PMID: 31131026 PMCID: PMC6525357 DOI: 10.1186/s13039-019-0430-8] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/08/2019] [Accepted: 04/16/2019] [Indexed: 12/17/2022]  Open
34
Pelin K, Wallgren-Pettersson C. Update on the Genetics of Congenital Myopathies. Semin Pediatr Neurol 2019;29:12-22. [PMID: 31060721 DOI: 10.1016/j.spen.2019.01.005] [Citation(s) in RCA: 15] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
35
Refaat MM, Hassanieh S, Ballout JA, Zakka P, Hotait M, Khalil A, Bitar F, Arabi M, Arnaout S, Skouri H, Abchee A, Abi-Saleh B, Khoury M, Massouras A, Nemer G. Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases. BMC Med Genomics 2019;12:33. [PMID: 30764827 PMCID: PMC6375196 DOI: 10.1186/s12920-019-0478-7] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/06/2018] [Accepted: 01/29/2019] [Indexed: 12/21/2022]  Open
36
Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies. J Mol Med (Berl) 2018;96:993-1024. [PMID: 30128729 DOI: 10.1007/s00109-018-1685-y] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/24/2018] [Revised: 07/22/2018] [Accepted: 08/08/2018] [Indexed: 12/19/2022]
37
Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, Chiaw TH, Loong CCW, Pua CJ, Raphael C, Prasad S, Barton PJ, Funke B, Watkins H, Ware JS, Cook SA. Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. Eur Heart J 2018;38:3461-3468. [PMID: 28082330 PMCID: PMC5837460 DOI: 10.1093/eurheartj/ehw603] [Citation(s) in RCA: 98] [Impact Index Per Article: 14.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/08/2016] [Accepted: 11/24/2016] [Indexed: 12/31/2022]  Open
38
Acute multi-visceral thrombosis and ischemia in a 3-year-old child. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2018. [DOI: 10.1016/j.epsc.2018.04.022] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]  Open
39
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. J Hum Genet 2018;63:989-996. [PMID: 29907873 DOI: 10.1038/s10038-018-0479-y] [Citation(s) in RCA: 26] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2018] [Revised: 05/28/2018] [Accepted: 05/29/2018] [Indexed: 01/28/2023]
40
Pereira NL, Grogan M, Dec GW. Spectrum of Restrictive and Infiltrative Cardiomyopathies. J Am Coll Cardiol 2018. [DOI: 10.1016/j.jacc.2018.01.016] [Citation(s) in RCA: 48] [Impact Index Per Article: 6.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
41
Burke MA, Cook SA, Seidman JG, Seidman CE. Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. J Am Coll Cardiol 2017;68:2871-2886. [PMID: 28007147 DOI: 10.1016/j.jacc.2016.08.079] [Citation(s) in RCA: 219] [Impact Index Per Article: 27.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/03/2016] [Revised: 08/01/2016] [Accepted: 08/02/2016] [Indexed: 12/19/2022]
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Henderson CA, Gomez CG, Novak SM, Mi-Mi L, Gregorio CC. Overview of the Muscle Cytoskeleton. Compr Physiol 2017. [PMID: 28640448 DOI: 10.1002/cphy.c160033] [Citation(s) in RCA: 170] [Impact Index Per Article: 21.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
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Gu Q, Mendsaikhan U, Khuchua Z, Jones BC, Lu L, Towbin JA, Xu B, Purevjav E. Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach. World J Cardiol 2017;9:320-331. [PMID: 28515850 PMCID: PMC5411966 DOI: 10.4330/wjc.v9.i4.320] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/06/2016] [Revised: 02/09/2017] [Accepted: 02/28/2017] [Indexed: 02/07/2023]  Open
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Chen Y, Barajas-Martinez H, Zhu D, Wang X, Chen C, Zhuang R, Shi J, Wu X, Tao Y, Jin W, Wang X, Hu D. Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. J Transl Med 2017;15:78. [PMID: 28427417 PMCID: PMC5399316 DOI: 10.1186/s12967-017-1180-1] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/27/2017] [Accepted: 04/10/2017] [Indexed: 01/12/2023]  Open
45
Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol 2017;81:467-473. [PMID: 28220527 DOI: 10.1002/ana.24900] [Citation(s) in RCA: 24] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/23/2016] [Revised: 02/13/2017] [Accepted: 02/13/2017] [Indexed: 12/13/2022]
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Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Am J Hum Genet 2017;100:169-178. [PMID: 28017374 PMCID: PMC5223057 DOI: 10.1016/j.ajhg.2016.11.017] [Citation(s) in RCA: 60] [Impact Index Per Article: 7.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/07/2016] [Accepted: 11/22/2016] [Indexed: 01/16/2023]  Open
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Wang X, Zhou K, Hua Y, Li Y. Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy: A case report with RAF1 770C>T mutant. Medicine (Baltimore) 2016;95:e4815. [PMID: 27631234 PMCID: PMC5402577 DOI: 10.1097/md.0000000000004815] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]  Open
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Li S, Mo K, Tian H, Chu C, Sun S, Tian L, Ding S, Li TR, Wu X, Liu F, Zhang Z, Xu T, Sun LV. Lmod2 piggyBac mutant mice exhibit dilated cardiomyopathy. Cell Biosci 2016;6:38. [PMID: 27274810 PMCID: PMC4893230 DOI: 10.1186/s13578-016-0101-y] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/26/2016] [Accepted: 05/03/2016] [Indexed: 11/10/2022]  Open
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Bang ML. Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins. J Cell Physiol 2016;232:38-52. [PMID: 27171814 DOI: 10.1002/jcp.25424] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2016] [Accepted: 05/10/2016] [Indexed: 01/15/2023]
50
Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud 2016;2:a000844. [PMID: 27148590 PMCID: PMC4853521 DOI: 10.1101/mcs.a000844] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/18/2015] [Accepted: 02/03/2016] [Indexed: 01/22/2023]  Open
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