Document Detail


Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.
MedLine Citation:
PMID:  23276923     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Thoracic aortic aneurysm and dissections (TAADs) are associated with both high mortality and medical expense. Poor outcomes are preventable by surgical repair; however, identifying individuals at-risk is difficult. Researchers are scanning the human genome to characterize the genetic determinants of TAADs by identifying chromosomal regions, gene mutations, single nucleotide polymorphism (SNP), genomic copy number variants and micro-RNA variants, with the purpose of analyzing the risk of TAADs associated with these predisposing genes. The goal of this review is to develop screening tests to identify individuals at risk for non-syndromic TAADs. This genetic survey has significant clinical implications because high-risk individuals can be closely monitored and can benefit from preventative surgical repair.
Authors:
Pengyu Zhang; Eryong Zhang; Jingxiu Fan; Jun Gu
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Publication Detail:
Type:  Journal Article; Review     Date:  2013-01-01
Journal Detail:
Title:  Frontiers in bioscience (Landmark edition)     Volume:  18     ISSN:  1093-4715     ISO Abbreviation:  Front Biosci (Landmark Ed)     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-01     Completed Date:  2013-06-12     Revised Date:  2013-07-29    
Medline Journal Info:
Nlm Unique ID:  101612996     Medline TA:  Front Biosci (Landmark Ed)     Country:  United States    
Other Details:
Languages:  eng     Pagination:  305-11     Citation Subset:  IM    
Affiliation:
Cardiovascular and Thoracic Surgery Department, West China Hospital of Sichuan University, No. 17 Third Section of South Renmin Road, Chengdu, China.
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MeSH Terms
Descriptor/Qualifier:
Actins / genetics
Aneurysm, Dissecting / genetics*
Aortic Aneurysm, Thoracic / genetics*
Calcium-Binding Proteins
Gene Dosage
Genetic Predisposition to Disease
Humans
Matrix Metalloproteinase 9 / genetics
MicroRNAs / genetics
Middle Aged
Mutation
Myosin Heavy Chains / genetics
Myosin-Light-Chain Kinase
Polymorphism, Single Nucleotide
Protein-Serine-Threonine Kinases / genetics
Receptors, Transforming Growth Factor beta / genetics
Smad3 Protein / genetics
Chemical
Reg. No./Substance:
0/ACTA2 protein, human; 0/Actins; 0/Calcium-Binding Proteins; 0/MYH11 protein, human; 0/MicroRNAs; 0/Myosin Heavy Chains; 0/Receptors, Transforming Growth Factor beta; 0/SMAD3 protein, human; 0/Smad3 Protein; EC 2.7.1.11/TGF-beta type I receptor; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.18/MYLK protein, human; EC 2.7.11.18/Myosin-Light-Chain Kinase; EC 2.7.11.30/transforming growth factor-beta type II receptor; EC 3.4.24.35/MMP9 protein, human; EC 3.4.24.35/Matrix Metalloproteinase 9

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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