Cargando…

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

BACKGROUND: Thoracic aortic aneurysm (TAA) and/or thoracic aortic aneurysm and dissection (TAAD) is characterized by a considerable risk of morbidity and mortality of affected individuals. It is inherited in an autosomal dominant pattern and the 20% of patients with non-syndromic TAA have a positive...

Descripción completa

Detalles Bibliográficos
Autores principales:	Keravnou, Anna, Bashiardes, Evy, Michailidou, Kyriaki, Soteriou, Marinos, Moushi, Areti, Cariolou, Marios
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286578/ https://www.ncbi.nlm.nih.gov/pubmed/30526509 http://dx.doi.org/10.1186/s12881-018-0728-0

Ejemplares similares

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports
por: Keravnou, Anna, et al.
Publicado: (2020)

MicroRNAs in ascending thoracic aortic aneurysms
por: Moushi, Areti, et al.
Publicado: (2020)

Tissue and plasma proteomic profiling indicates AHSG as a potential biomarker for ascending thoracic aortic aneurysms
por: Kazamia, Rafailia, et al.
Publicado: (2023)

Comparative Y-chromosome analysis among Cypriots in the context of historical events and migrations
por: Moutsouri, Irene, et al.
Publicado: (2021)

Correction: Comparative Y-chromosome analysis among Cypriots in the context of historical events and migrations
por: Moutsouri, Irene, et al.
Publicado: (2022)

Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-Ottoman paternal ancestry with Turkish Cypriots
por: Heraclides, Alexandros, et al.
Publicado: (2017)

A deleterious MYH11 mutation causing familial thoracic aortic dissection
por: Takeda, Norifumi, et al.
Publicado: (2015)

Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study
por: Chairta, Paraskevi, et al.
Publicado: (2020)

LncRNA Sox2ot modulates the progression of thoracic aortic aneurysm by regulating miR-330-5p/Myh11
por: Xiao, Weizhang, et al.
Publicado: (2020)

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1
por: Burger, Joyce, et al.
Publicado: (2021)

A highly penetrant ACTA2 mutation of thoracic aortic disease
por: Bobba, Christopher M., et al.
Publicado: (2023)

Coupling between regional aortic pulse wave velocity and luminal diameters in patients with thoracic aortic aneurysm: initial results from the ACTA study
por: Kroner, Eleanore, et al.
Publicado: (2013)

Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls
por: Zanti, Maria, et al.
Publicado: (2023)

Low HDL Cholesterol, Smoking and IL-13 R130Q Polymorphism are Associated with Myocardial Infarction in Greek Cypriot Males. A Pilot Study
por: Xenophontos, Stavroulla, et al.
Publicado: (2008)

Thoracic Aortic Aneurysms
por: Duckworth, Dyce
Publicado: (1908)

Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women
por: Yiangou, Kristia, et al.
Publicado: (2021)

An Myh11 single lysine deletion causes aortic dissection by reducing aortic structural integrity and contractility
por: Negishi, Keita, et al.
Publicado: (2022)

Intuitive eating in Greek-Cypriot adults: Influence of gender and body mass
por: Argyrides, Marios, et al.
Publicado: (2022)

Aneurysm growth, survival, and quality of life in untreated thoracic aortic aneurysms: the effective treatments for thoracic aortic aneurysms study
por: Sharples, Linda, et al.
Publicado: (2021)

Re-engineering the Cypriot General Healthcare System for Syndemics
por: Cuschieri, Sarah, et al.
Publicado: (2022)

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
por: Chesneau, Bertrand, et al.
Publicado: (2021)

Endovascular repair of thoracic aortic aneurysm
por: Akin, Ibrahim, et al.
Publicado: (2010)

Telomere Biology and Thoracic Aortic Aneurysm
por: Aschacher, Thomas, et al.
Publicado: (2017)

Mitochondrial function in thoracic aortic aneurysms
por: Yu, Emma, et al.
Publicado: (2018)

Thoracic Aortic Aneurysm and Factors Affecting Aortic Dissection
por: Chumachenko, Petr V., et al.
Publicado: (2020)

Characterization of IgG Antibody Response against SARS-CoV-2 (COVID-19) in the Cypriot Population
por: Krashias, George, et al.
Publicado: (2021)

Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms
por: Votsi, Christina, et al.
Publicado: (2017)

Simultaneous Endovascular Aneurysm Repair for Abdominal Aortic Aneurysm Combined with Saccular Thoracic Aortic Aneurysm
por: Kim, Minju, et al.
Publicado: (2023)

Disentangling prescribing behaviour of Cypriot physicians, within a complex framework of interacting
por: Theodorou, Mamas, et al.
Publicado: (2022)

Emotional Well-Being and Traditional Cypriot Easter Games: A Qualitative Analysis
por: Koundourou, Christiana, et al.
Publicado: (2021)

Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report
por: Finsterer, Josef, et al.
Publicado: (2023)

Thoracic Aortic Aneurysm Growth: Role of Sex and Aneurysm Etiology
por: Cheung, Katie, et al.
Publicado: (2017)

Association of Thoracic Aortic Aneurysm Versus Aortic Dissection on Outcomes After Thoracic Endovascular Aortic Repair
por: Hasan, Irsa S., et al.
Publicado: (2023)

Adventitial Fibroblast Abormality in Thoracic Aortic Aneurysms and Aortic Dissections
por: Suh, Jong Hui, et al.
Publicado: (2011)

Aortic wall gadolinium enhancement in thoracic aortic aneurysm patients
por: Shiran, Hadas, et al.
Publicado: (2013)

Thoracic Aortic Aneurysm: Reading the Enemy’s Playbook
por: Elefteriades, John A.
Publicado: (2008)

Epigenetics in Ascending Thoracic Aortic Aneurysm and Dissection
por: Boileau, Adeline, et al.
Publicado: (2018)

A review of thoracic aortic aneurysm disease
por: Clift, Paul F, et al.
Publicado: (2019)

Thoracic aortic aneurysm. An experimental model in pigs
por: Argenta, Rodrigo, et al.
Publicado: (2021)

Clinical and prognostic significance of MYH11 in lung cancer
por: Nie, Meng-Jun, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_b9gq5jj1n80j2n7rphoibksuqq