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FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy
A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM) patients, yet only 50% of these cases are associated with a known causative gene variant. Thus, in order to understand the pathophysiology of DCM, it is necessary to identify and characterize additional genes. In th...
| Autores principales: | , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5166708/ https://www.ncbi.nlm.nih.gov/pubmed/28008423 http://dx.doi.org/10.1016/j.jacbts.2016.05.004 |
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| author | Begay, Rene L. Tharp, Charles A. Martin, August Graw, Sharon L. Sinagra, Gianfranco Miani, Daniela Sweet, Mary E. Slavov, Dobromir B. Stafford, Neil Zeller, Molly J. Alnefaie, Rasha Rowland, Teisha J. Brun, Francesca Jones, Kenneth L. Gowan, Katherine Mestroni, Luisa Garrity, Deborah M. Taylor, Matthew R.G. |
| author_facet | Begay, Rene L. Tharp, Charles A. Martin, August Graw, Sharon L. Sinagra, Gianfranco Miani, Daniela Sweet, Mary E. Slavov, Dobromir B. Stafford, Neil Zeller, Molly J. Alnefaie, Rasha Rowland, Teisha J. Brun, Francesca Jones, Kenneth L. Gowan, Katherine Mestroni, Luisa Garrity, Deborah M. Taylor, Matthew R.G. |
| author_sort | Begay, Rene L. |
| collection | PubMed |
| description | A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM) patients, yet only 50% of these cases are associated with a known causative gene variant. Thus, in order to understand the pathophysiology of DCM, it is necessary to identify and characterize additional genes. In this study, whole exome sequencing in combination with segregation analysis was used to identify mutations in a novel gene, filamin C (FLNC), resulting in a cardiac-restricted DCM pathology. Here we provide functional data via zebrafish studies and protein analysis to support a model implicating FLNC haploinsufficiency as a mechanism of DCM. |
| format | Online Article Text |
| id | pubmed-5166708 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-51667082017-08-01 FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy Begay, Rene L. Tharp, Charles A. Martin, August Graw, Sharon L. Sinagra, Gianfranco Miani, Daniela Sweet, Mary E. Slavov, Dobromir B. Stafford, Neil Zeller, Molly J. Alnefaie, Rasha Rowland, Teisha J. Brun, Francesca Jones, Kenneth L. Gowan, Katherine Mestroni, Luisa Garrity, Deborah M. Taylor, Matthew R.G. JACC Basic Transl Sci PRE-CLINICAL RESEARCH A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM) patients, yet only 50% of these cases are associated with a known causative gene variant. Thus, in order to understand the pathophysiology of DCM, it is necessary to identify and characterize additional genes. In this study, whole exome sequencing in combination with segregation analysis was used to identify mutations in a novel gene, filamin C (FLNC), resulting in a cardiac-restricted DCM pathology. Here we provide functional data via zebrafish studies and protein analysis to support a model implicating FLNC haploinsufficiency as a mechanism of DCM. Elsevier 2016-07-27 /pmc/articles/PMC5166708/ /pubmed/28008423 http://dx.doi.org/10.1016/j.jacbts.2016.05.004 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | PRE-CLINICAL RESEARCH Begay, Rene L. Tharp, Charles A. Martin, August Graw, Sharon L. Sinagra, Gianfranco Miani, Daniela Sweet, Mary E. Slavov, Dobromir B. Stafford, Neil Zeller, Molly J. Alnefaie, Rasha Rowland, Teisha J. Brun, Francesca Jones, Kenneth L. Gowan, Katherine Mestroni, Luisa Garrity, Deborah M. Taylor, Matthew R.G. FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy |
| title | FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy |
| title_full | FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy |
| title_fullStr | FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy |
| title_full_unstemmed | FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy |
| title_short | FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy |
| title_sort | flnc gene splice mutations cause dilated cardiomyopathy |
| topic | PRE-CLINICAL RESEARCH |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5166708/ https://www.ncbi.nlm.nih.gov/pubmed/28008423 http://dx.doi.org/10.1016/j.jacbts.2016.05.004 |
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