When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies
Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing...
| Main Authors: | , , , |
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| Format: | Journal article |
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Springer Verlag
2017
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| _version_ | 1826266177625653248 |
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| author | Ehsan, M Jiang, H Thomson, K Gehmlich, K |
| author_facet | Ehsan, M Jiang, H Thomson, K Gehmlich, K |
| author_sort | Ehsan, M |
| collection | OXFORD |
| description | Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies. |
| first_indexed | 2024-03-06T20:34:58Z |
| format | Journal article |
| id | oxford-uuid:325245c1-e224-4496-98e8-f0ab30cdfcdb |
| institution | University of Oxford |
| last_indexed | 2024-03-06T20:34:58Z |
| publishDate | 2017 |
| publisher | Springer Verlag |
| record_format | dspace |
| spelling | oxford-uuid:325245c1-e224-4496-98e8-f0ab30cdfcdb2022-03-26T13:13:16ZWhen signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathiesJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:325245c1-e224-4496-98e8-f0ab30cdfcdbSymplectic Elements at OxfordSpringer Verlag2017Ehsan, MJiang, HThomson, KGehmlich, KCardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies. |
| spellingShingle | Ehsan, M Jiang, H Thomson, K Gehmlich, K When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies |
| title | When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies |
| title_full | When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies |
| title_fullStr | When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies |
| title_full_unstemmed | When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies |
| title_short | When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies |
| title_sort | when signalling goes wrong pathogenic variants in structural and signalling proteins causing cardiomyopathies |
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