Advances in the knowledge of the molecular and cellular bases of congenital heart diseases. Second of two parts: Congenital heart defects

被引：0
作者：
Taboada Lugo, Noel [1 ]
机构：
[1] Hosp Ginecoobstet Mariana Grajales, Ctr Prov Genet Med, Santa Clara, Villa Clara, Cuba
来源：
CORSALUD | 2019年 / 11卷 / 04期
关键词：
Congenital heart defects; Morphogenesis; Single nucleotide polymorphism; Transcription factors; DNA methylation; Signal transduction; 22Q11.2; DELETION; MUTATIONS; GENETICS; NKX2-5;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Congenital heart defect is the most common birth defect in humans. We conducted a review of the medical literature with the aim of identifying the most recent advances in the knowledge of its molecular and cellular bases. The information obtained was divided into two parts: the first one emphasized on genes and cardiac morphogenesis, and this second part complements the previous one, with special focus on congenital heart defects.
引用
收藏
页码：307 / 316
页数：10
相关论文
共 42 条
[1]   Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications [J].
Al-Qattan, Mohammad M. ;
Abou Al-Shaar, Hussam .
GENE, 2015, 560 (02) :129-136
[2]   MOLECULAR PATHOPHYSIOLOGY OF CONGENITAL LONG QT SYNDROME [J].
Bohnen, M. S. ;
Peng, G. ;
Robey, S. H. ;
Terrenoire, C. ;
Iyer, V. ;
Sampson, K. J. ;
Kass, R. S. .
PHYSIOLOGICAL REVIEWS, 2017, 97 (01) :89-134
[3]   Changing Landscape of Congenital Heart Disease [J].
Bouma, Berto J. ;
Mulder, Barbara J. M. .
CIRCULATION RESEARCH, 2017, 120 (06) :908-922
[4]   Congenital heart disease and genetic syndromes: new insights into molecular mechanisms [J].
Calcagni, Giulio ;
Unolt, Marta ;
Digilio, Maria Cristina ;
Baban, Anwar ;
Versacci, Paolo ;
Tartaglia, Marco ;
Baldini, Antonio ;
Marino, Bruno .
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2017, 17 (09) :861-870
[5]   Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population [J].
Cao, Yu ;
Wang, Junqiang ;
Wei, Chuanyu ;
Hou, Zongliu ;
Li, Yaxiong ;
Zou, Honglin ;
Meng, Mingyao ;
Wang, Wenju ;
Jiang, Lihong .
GENE, 2016, 575 (01) :29-33
[6]   A Provisional Gene Regulatory Atlas for Mouse Heart Development [J].
Chen, Hailin ;
VanBuren, Vincent .
PLOS ONE, 2014, 9 (01)
[7]   Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization [J].
Chen, M. ;
Yang, Y-S. ;
Shih, J-C. ;
Lin, W-H. ;
Lee, D-J. ;
Lin, Y-S. ;
Chou, C-H. ;
Cameron, A. D. ;
Ginsberg, N. A. ;
Chen, C-A. ;
Lee, M-L. ;
Ma, G-C. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2014, 43 (04) :396-403
[8]   A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1 [J].
Chen, Xiao-Meng ;
Guo, Kai ;
Li, Hong ;
Lu, Qiu-Fen ;
Yang, Chao ;
Yu, Ying ;
Hou, Jian-Wen ;
Fei, Yu-Dong ;
Sun, Jian ;
Wang, Jun ;
Li, Yi-Xue ;
Li, Yi-Gang .
HEART AND VESSELS, 2019, 34 (01) :177-188
[9]   Characterization of Nodal/TGF-Lefty Signaling Pathway Gene Variants for Possible Roles in Congenital Heart Diseases [J].
Deng, Xia ;
Zhou, Jing ;
Li, Fei-Feng ;
Yan, Peng ;
Zhao, Er-Ying ;
Hao, Ling ;
Yu, Kai-Jiang ;
Liu, Shu-Lin .
PLOS ONE, 2014, 9 (08)
[10]   Genetics of congenital heart disease [J].
Edwards, Jonathan J. ;
Gelb, Bruce D. .
CURRENT OPINION IN CARDIOLOGY, 2016, 31 (03) :235-241
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