Genetics of thoracic aorta aneurysms (notice n° 135281)
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|---|---|
| fixed length control field | 01585cam a2200181 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112021300.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Cadenet, Margaux |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Genetics of thoracic aorta aneurysms |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2022.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 77 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | A thoracic aortic aneurysm occurs when the ascending part of the aorta dilates, which can lead to a dissection (TAAD—thoracic aortic aneurysm and dissection) or aortic rupture. The etiologies are diverse, but in approximately 20% of cases a genetic origin is found. About thirty genes are reported to be responsible for the development of TAAD. The majority of these genes encode for proteins involved in the extracellular matrix, the contraction of smooth muscle cells, or the growth factor TGF-β signaling pathway. Identifying the pathogenic variant responsible for the aortic disease becomes essential for making a definitive diagnosis, to guide and to personalize the treatment of the patients but also to screen relatives at risk. The availability and access to genetic testing have improved considerably with the development of new sequencing techniques (NGS—next-generation sequencing) and the use of gene panels. This review summarizes the main genes associated with TAAD as well as the current diagnostic strategy. |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanna, Nadine |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnaud, Pauline |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Annales de Biologie Clinique | 80 | 4 | 2022-07-01 | p. 344-354 | 0003-3898 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/journal-annales-de-biologie-clinique-2022-4-page-344?lang=en">https://shs.cairn.info/journal-annales-de-biologie-clinique-2022-4-page-344?lang=en</a> |
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