Literature DB >> 25274754

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Terence Prendiville1, Patrick Y Jay2, William T Pu3.   

Abstract

Study of monogenic congenital heart disease (CHD) has provided entry points to gain new understanding of heart development and the molecular pathogenesis of CHD. In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4. Detailed investigation of these genes in mice and humans has expanded our understanding of heart development, shedding light on the complex genetic and environmental factors that influence expression and penetrance of CHD gene mutations.
Copyright © 2014 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2014        PMID： 25274754      PMCID： PMC4200204          DOI： 10.1101/cshperspect.a013946

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN： 2157-1422            Impact factor:   6.915


  102 in total

1.  Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

Authors:  Kayoko Hirayama-Yamada; Mitsuhiro Kamisago; Kaoru Akimoto; Hiroyuki Aotsuka; Yoshihide Nakamura; Hideshi Tomita; Michiko Furutani; Shin-ichiro Imamura; Atsuyoshi Takao; Makoto Nakazawa; Rumiko Matsuoka
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

2.  GATA4 transcription factor is required for ventral morphogenesis and heart tube formation.

Authors:  C T Kuo; E E Morrisey; R Anandappa; K Sigrist; M M Lu; M S Parmacek; C Soudais; J M Leiden
Journal:  Genes Dev       Date:  1997-04-15       Impact factor: 11.361

Review 3.  Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction.

Authors:  J J Nora
Journal:  Circulation       Date:  1968-09       Impact factor: 29.690

4.  Involvement of a novel GATA4 mutation in atrial septal defects.

Authors:  Xing-Yuan Liu; Juan Wang; Jing-Hao Zheng; Kai Bai; Zhong-Min Liu; Xiao-Zhou Wang; Xu Liu; Wei-Yi Fang; Yi-Qing Yang
Journal:  Int J Mol Med       Date:  2011-03-03       Impact factor: 4.101

Review 5.  Management of pregnancy in patients with congenital heart disease.

Authors:  Ian S Harris
Journal:  Prog Cardiovasc Dis       Date:  2011 Jan-Feb       Impact factor: 8.194

6.  Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5.

Authors:  C Biben; R Weber; S Kesteven; E Stanley; L McDonald; D A Elliott; L Barnett; F Köentgen; L Robb; M Feneley; R P Harvey
Journal:  Circ Res       Date:  2000-11-10       Impact factor: 17.367

7.  A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5.

Authors:  M Tanaka; C I Berul; M Ishii; P Y Jay; H Wakimoto; P Douglas; N Yamasaki; T Kawamoto; J Gehrmann; C T Maguire; M Schinke; C E Seidman; J G Seidman; Y Kurachi; S Izumo
Journal:  Cold Spring Harb Symp Quant Biol       Date:  2002

8.  Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.

Authors:  Yuichi Ikeda; Yukio Hiroi; Toru Hosoda; Toshinori Utsunomiya; Shuzo Matsuo; Tsuyoshi Ito; Jun-ichi Inoue; Tetsuya Sumiyoshi; Hiroyuki Takano; Ryozo Nagai; Issei Komuro
Journal:  Circ J       Date:  2002-06       Impact factor: 2.993

9.  Holt-Oram syndrome: a clinical genetic study.

Authors:  R A Newbury-Ecob; R Leanage; J A Raeburn; I D Young
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

10.  Identification of functional mutations in GATA4 in patients with congenital heart disease.

Authors:  Erli Wang; Shuna Sun; Bin Qiao; Wenyuan Duan; Guoying Huang; Yu An; Shuhua Xu; Yufang Zheng; Zhixi Su; Xun Gu; Li Jin; Hongyan Wang
Journal:  PLoS One       Date:  2013-04-23       Impact factor: 3.240
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  17 in total

Review 1.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

2.  pouC Regulates Expression of bmp4 During Atrioventricular Canal Formation in Zebrafish.

Authors:  Minoti Bhakta; Mahesh S Padanad; John P Harris; Christina Lubczyk; James F Amatruda; Nikhil V Munshi
Journal:  Dev Dyn       Date:  2018-12-10       Impact factor: 3.780

3.  Physiology of Cardiac Development: From Genetics to Signaling to Therapeutic Strategies.

Authors:  Cheng Sun; Maria I Kontaridis
Journal:  Curr Opin Physiol       Date:  2017-12-13

Review 4.  GATA factors in endocrine neoplasia.

Authors:  Marjut Pihlajoki; Anniina Färkkilä; Tea Soini; Markku Heikinheimo; David B Wilson
Journal:  Mol Cell Endocrinol       Date:  2015-05-28       Impact factor: 4.102

Review 5.  Genetics and Genomics of Congenital Heart Disease.

Authors:  Samir Zaidi; Martina Brueckner
Journal:  Circ Res       Date:  2017-03-17       Impact factor: 17.367

Review 6.  Emerging Field of Cardiomics: High-Throughput Investigations into Transcriptional Regulation of Cardiovascular Development and Disease.

Authors:  Christopher E Slagle; Frank L Conlon
Journal:  Trends Genet       Date:  2016-10-04       Impact factor: 11.639

Review 7.  Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.

Authors:  Nicholas Ekow Thomford; Kevin Dzobo; Nana Akyaa Yao; Emile Chimusa; Jonathan Evans; Emmanuel Okai; Paul Kruszka; Maximilian Muenke; Gordon Awandare; Ambroise Wonkam; Collet Dandara
Journal:  OMICS       Date:  2018-05

8.  Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.

Authors:  Irfan S Kathiriya; Kavitha S Rao; Giovanni Iacono; W Patrick Devine; Andrew P Blair; Swetansu K Hota; Michael H Lai; Bayardo I Garay; Reuben Thomas; Henry Z Gong; Lauren K Wasson; Piyush Goyal; Tatyana Sukonnik; Kevin M Hu; Gunes A Akgun; Laure D Bernard; Brynn N Akerberg; Fei Gu; Kai Li; Matthew L Speir; Maximilian Haeussler; William T Pu; Joshua M Stuart; Christine E Seidman; J G Seidman; Holger Heyn; Benoit G Bruneau
Journal:  Dev Cell       Date:  2020-12-14       Impact factor: 12.270

9.  Cardiac Na+-Ca2+ exchanger 1 (ncx1h) is critical for the ventricular cardiomyocyte formation via regulating the expression levels of gata4 and hand2 in zebrafish.

Authors:  Liming Chu; Huimin Yin; Lei Gao; Li Gao; Yu Xia; Chiyuan Zhang; Yi Chen; Tingxi Liu; Jijun Huang; Kenneth R Boheler; Yong Zhou; Huang-Tian Yang
Journal:  Sci China Life Sci       Date:  2020-07-07       Impact factor: 6.038

Review 10.  Fontan Circulation Might be Associated with Peripartum Cardiomyopathy: A Review of Mechanistic and Clinical Aspects.

Authors:  Kenan Yalta; Ertan Yetkin; Gokay Taylan
Journal:  Curr Cardiol Rev       Date:  2021
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