Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection-Reference-Cited by-同舟云学术

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Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection

Published:2019-12-12 Issue:1 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Xu Shijun¹²³⁴⁵^ORCID,Li Lei¹²³⁴⁵,Fu Yuwei⁶,Wang Xin⁶,Sun Hairui⁶,Wang Jianbin⁶,Han Lu¹²³⁴⁵,Wu Zining¹²³⁴⁵,Liu Yongmin¹²³⁴⁵,Zhu Junming¹²³⁴⁵,Sun Lizhong¹²³⁴⁵,Lan Feng²³,He Yihua³⁶,Zhang Hongjia¹²³⁴⁵

Affiliation:

1. Department of Cardiac Surgery Beijing Anzhen Hospital Capital Medical University Beijing China

2. Beijing Institute of Heart, Lung and Blood Vessel Diseases Beijing China

3. Beijing Lab for Cardiovascular Precision Medicine Beijing China

4. Beijing Aortic Disease Center Cardiovascular Surgery Center Beijing China

5. Beijing Engineering Research Center for Vascular Prostheses Beijing China

6. Department of Echocardiography Beijing Anzhen Hospital Capital Medical University Beijing China

Funder

National Key R&D Program of China

the Beijing Lab for Cardiovascular Precision Medicine

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1041

Reference19 articles.

1. Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events

2. Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

3. Cardiovascular manifestations in men and women carrying a FBN1 mutation

4. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

5. Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

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1. Genetic analysis of a novel <i>FBN1</i> mutation in a pediatric Marfan syndrome patient;Intractable & Rare Diseases Research;2024-08-31

2. Identification of Potential lncRNA-miRNA-mRNA Regulatory Network Contributing to Arrhythmogenic Right Ventricular Cardiomyopathy;Journal of Cardiovascular Development and Disease;2024-05-30

3. Transcultural adaptation to Spain of the CDPQOL questionnaire specific for coeliac children;European Journal of Pediatrics;2024-05-03

4. Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia;European Journal of Pediatrics;2024-05-03

5. Association of polymorphisms in FBN1, MYH11, and TGF-β signaling-related genes with susceptibility of sporadic thoracic aortic aneurysm and dissection in the Zhejiang Han population;Open Medicine;2024-01-01

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