Novel
Adult
Aortic Dissection
/ genetics
Aorta
/ metabolism
Aortic Aneurysm, Thoracic
/ genetics
Arteries
/ metabolism
Connective Tissue
/ metabolism
Connective Tissue Diseases
/ genetics
Female
Genetic Predisposition to Disease
/ genetics
Humans
Male
Middle Aged
Mutation
/ genetics
Pedigree
Protein-Lysine 6-Oxidase
/ genetics
ECM
LDS
LOX
MFS
TAAD
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
01 Jul 2021
01 Jul 2021
Historique:
received:
04
06
2021
revised:
27
06
2021
accepted:
28
06
2021
entrez:
20
7
2021
pubmed:
21
7
2021
medline:
3
8
2021
Statut:
epublish
Résumé
Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in
Identifiants
pubmed: 34281165
pii: ijms22137111
doi: 10.3390/ijms22137111
pmc: PMC8269155
pii:
doi:
Substances chimiques
LOX protein, human
EC 1.4.3.13
Protein-Lysine 6-Oxidase
EC 1.4.3.13
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Universiteit Antwerpen
ID : FFB190208
Organisme : Fonds Wetenschappelijk Onderzoek
ID : G042321N
Organisme : Fonds Wetenschappelijk Onderzoek
ID : G040221N,
Organisme : Fonds Wetenschappelijk Onderzoek
ID : G044720N
Organisme : Dutch Heart Foundation
ID : 2013T093
Organisme : European Research Council
ID : ERC-COG-2017-771945)
Pays : International
Organisme : Fonds Wetenschappelijk Onderzoek
ID : 12X8520N
Organisme : Fonds Wetenschappelijk Onderzoek
ID : 1S70419N
Organisme : Fonds Wetenschappelijk Onderzoek
ID : 1S81820N
Organisme : European 398 Reference Network on rare multisystemic vascular disorders
ID : 769036
Références
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pubmed: 26838787
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pubmed: 25352915
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pubmed: 30675029
J Am Heart Assoc. 2020 Oct 20;9(20):e018814
pubmed: 33059494
Hum Mutat. 2015 Aug;36(8):808-14
pubmed: 25907466
Ann Cardiothorac Surg. 2017 Nov;6(6):582-594
pubmed: 29270370
Circulation. 2020 Sep 8;142(10):1021-1024
pubmed: 32897753