1
|
Akazawa H and Komuro I: Cardiac
transcription factor Csx/Nkx2-5: Its role in cardiac development
and diseases. Pharmacol Ther. 107:252–268. 2005. View Article : Google Scholar : PubMed/NCBI
|
2
|
Fahed AC, Gelb BD, Seidman JG and Seidman
CE: Genetics of congenital heart disease: The glass half empty.
Circ Res. 112:707–720. 2013. View Article : Google Scholar : PubMed/NCBI
|
3
|
Marelli AJ, Ionescu-Ittu R, Mackie AS, Guo
L, Dendukuri N and Kaouache M: Lifetime prevalence of congenital
heart disease in the general population from 2000 to 2010.
Circulation. 130:749–756. 2014. View Article : Google Scholar : PubMed/NCBI
|
4
|
Mozaffarian D, Benjamin EJ, Go AS, Arnett
DK, Blaha MJ, Cushman M, De Ferranti S, Després JP, Fullerton HJ,
Howard VJ, et al: Heart disease and stroke statistics-2015 update:
A report from the American Heart Association. Circulation.
131:e29–e322. 2015. View Article : Google Scholar : PubMed/NCBI
|
5
|
McCulley DJ and Black BL: Transcription
factor pathways and congenital heart disease. Curr Top Dev Biol.
100:253–277. 2012. View Article : Google Scholar : PubMed/NCBI
|
6
|
Andersen TA, Troelsen K, de L and Larsen
LA: Of mice and men: Molecular genetics of congenital heart
disease. Cell Mol Life Sci. 71:1327–1352. 2014. View Article : Google Scholar : PubMed/NCBI
|
7
|
Qu XK, Qiu XB, Yuan F, Wang J, Zhao CM,
Liu XY, Zhang XL, Li RG, Xu YJ, Hou XM, et al: A novel NKX2.5
loss-of-function mutation associated with congenital bicuspid
aortic valve. Am J Cardiol. 114:1891–1895. 2014. View Article : Google Scholar : PubMed/NCBI
|
8
|
Izumi K, Noon S, Wilkens A and Krantz ID:
NKX2.5 mutation identification on exome sequencing in a patient
with heterotaxy. Eur J Med Genet. 57:558–561. 2014. View Article : Google Scholar : PubMed/NCBI
|
9
|
Zheng J, Li F, Liu J, Xu Z, Zhang H, Fu Q,
Wang J and Sun K: Investigation of somatic NKX2-5 mutations in
Chinese children with congenital heart disease. Int J Med Sci.
12:538–543. 2015. View Article : Google Scholar : PubMed/NCBI
|
10
|
Yuan F, Qiu XB, Li RG, Qu XK, Wang J, Xu
YJ, Liu X, Fang WY, Yang YQ and Liao DN: A novel NKX2-5
loss-of-function mutation predisposes to familial dilated
cardiomyopathy and arrhythmias. Int J Mol Med. 35:478–486.
2015.PubMed/NCBI
|
11
|
Yu H, Xu JH, Song HM, Zhao L, Xu WJ, Wang
J, Li RG, Xu L, Jiang WF, Qiu XB, et al: Mutational spectrum of the
NKX2-5 gene in patients with lone atrial fibrillation. Int J Med
Sci. 11:554–563. 2014. View Article : Google Scholar : PubMed/NCBI
|
12
|
Perera JL, Johnson NM, Judge DP and
Crosson JE: Novel and highly lethal NKX2.5 missense mutation in a
family with sudden death and ventricular arrhythmia. Pediatr
Cardiol. 35:1206–1212. 2014. View Article : Google Scholar : PubMed/NCBI
|
13
|
Ta-Shma A, El-lahham N, Edvardson S,
Stepensky P, Nir A, Perles Z, Gavri S, Golender J,
Yaakobi-Simhayoff N, Shaag A, et al: Conotruncal malformations and
absent thymus due to a deleterious NKX2-6 mutation. J Med Genet.
51:268–270. 2014. View Article : Google Scholar : PubMed/NCBI
|
14
|
Wang J, Zhang DF, Sun YM, Li RG, Qiu XB,
Qu XK, Liu X, Fang WY and Yang YQ: NKX2-6 mutation predisposes to
familial atrial fibrillation. Int J Mol Med. 34:1581–1590.
2014.PubMed/NCBI
|
15
|
Zhao L, Ni SH, Liu XY, Wei D, Yuan F, Xu
L, Xin Li, Li RG, Qu XK, Xu YJ, et al: Prevalence and spectrum of
Nkx2.6 mutations in patients with congenital heart disease. Eur J
Med Genet. 57:579–586. 2014. View Article : Google Scholar : PubMed/NCBI
|
16
|
Wang J, Mao JH, Ding KK, Xu WJ, Liu XY,
Qiu XB, Li RG, Qu XK, Xu YJ, Huang RT, et al: A novel NKX2.6
mutation associated with congenital ventricular septal defect.
Pediatr Cardiol. 36:646–656. 2015. View Article : Google Scholar : PubMed/NCBI
|
17
|
Xiang R, Fan LL, Huang H, Cao BB, Li XP,
Peng DQ and Xia K: A novel mutation of GATA4 (K319E) is responsible
for familial atrial septal defect and pulmonary valve stenosis.
Gene. 534:320–323. 2014. View Article : Google Scholar : PubMed/NCBI
|
18
|
Zhao L, Xu JH, Xu WJ, Yu H, Wang Q, Zheng
HZ, Jiang WF, Jiang JF and Yang YQ: A novel GATA4 loss-of-function
mutation responsible for familial dilated cardiomyopathy. Int J Mol
Med. 33:654–660. 2014.PubMed/NCBI
|
19
|
Li J, Liu WD, Yang ZL, Yuan F, Xu L, Li RG
and Yang YQ: Prevalence and spectrum of GATA4 mutations associated
with sporadic dilated cardiomyopathy. Gene. 548:174–181. 2014.
View Article : Google Scholar : PubMed/NCBI
|
20
|
Huang RT, Xue S, Xu YJ, Zhou M and Yang
YQ: Somatic GATA5 mutations in sporadic tetralogy of Fallot. Int J
Mol Med. 33:1227–1235. 2014.PubMed/NCBI
|
21
|
Shi LM, Tao JW, Qiu XB, Wang J, Yuan F, Xu
L, Liu H, Li RG, Xu YJ, Wang Q, et al: GATA5 loss-of-function
mutations associated with congenital bicuspid aortic valve. Int J
Mol Med. 33:1219–1226. 2014.PubMed/NCBI
|
22
|
Zhang XL, Dai N, Tang K, Chen YQ, Chen W,
Wang J, Zhao CM, Yuan F, Qiu XB, Qu XK, et al: GATA5
loss-of-function mutation in familial dilated cardiomyopathy. Int J
Mol Med. 35:763–770. 2015.PubMed/NCBI
|
23
|
Wang X, Ji W, Wang J, Zhao P, Guo Y, Xu R,
Chen S and Sun K: Identification of two novel GATA6 mutations in
patients with nonsyndromic conotruncal heart defects. Mol Med Rep.
10:743–748. 2014.PubMed/NCBI
|
24
|
Xu L, Zhao L, Yuan F, Jiang WF, Liu H, Li
RG, Xu YJ, Zhang M, Fang WY, Qu XK, et al: GATA6 loss-of-function
mutations contribute to familial dilated cardiomyopathy. Int J Mol
Med. 34:1315–1322. 2014.PubMed/NCBI
|
25
|
Baban A, Postma AV, Marini M, Trocchio G,
Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett
P, et al: Identification of TBX5 mutations in a series of 94
patients with tetralogy of Fallot. Am J Med Genet A.
164A:3100–3107. 2014. View Article : Google Scholar : PubMed/NCBI
|
26
|
Zhang XL, Qiu XB, Yuan F, Wang J, Zhao CM,
Li RG, Xu L, Xu YJ, Shi HY, Hou XM, et al: TBX5 loss-of-function
mutation contributes to familial dilated cardiomyopathy. Biochem
Biophys Res Commun. 459:166–171. 2015. View Article : Google Scholar : PubMed/NCBI
|
27
|
Zhou W, Zhao L, Jiang JQ, Jiang WF, Yang
YQ and Qiu XB: A novel TBX5 loss-of-function mutation associated
with sporadic dilated cardiomyopathy. Int J Mol Med. 36:282–288.
2015.PubMed/NCBI
|
28
|
Pan Y, Geng R, Zhou N, Zheng GF, Zhao H,
Wang J, Zhao CM, Qiu XB, Yang YQ and Liu XY: TBX20 loss-of-function
mutation contributes to double outlet right ventricle. Int J Mol
Med. 35:1058–1066. 2015.PubMed/NCBI
|
29
|
Zhao CM, Bing Sun, Song HM, Wang J, Xu WJ,
Jiang JF, Qiu XB, Yuan F, Xu JH and Yang YQ: TBX20 loss-of-function
mutation associated with familial dilated cardiomyopathy. Clin Chem
Lab Med. 54:325–332. 2016. View Article : Google Scholar : PubMed/NCBI
|
30
|
Wei D, Gong XH, Qiu G, Wang J and Yang YQ:
Novel PITX2c loss-of-function mutations associated with complex
congenital heart disease. Int J Mol Med. 33:1201–1208.
2014.PubMed/NCBI
|
31
|
Zhao CM, Peng LY, Li L, Liu XY, Wang J,
Zhang XL, Yuan F, Li RG, Qiu XB and Yang YQ: PITX2 loss-of-function
mutation contributes to congenital endocardial cushion defect and
Axenfeld-Rieger syndrome. PLoS One. 10:e01244092015. View Article : Google Scholar : PubMed/NCBI
|
32
|
Wang J, Zhang DF, Sun YM and Yang YQ: A
novel PITX2c loss-of-function mutation associated with familial
atrial fibrillation. Eur J Med Genet. 57:25–31. 2014. View Article : Google Scholar : PubMed/NCBI
|
33
|
Qiu XB, Xu YJ, Li RG, Xu L, Liu X, Fang
WY, Yang YQ and Qu XK: PITX2C loss-of-function mutations
responsiblefor idiopathic atrial fibrillation. Clinics (Sao Paulo).
69:15–22. 2014. View Article : Google Scholar : PubMed/NCBI
|
34
|
Hong K and Xiong Q: Genetic basis of
atrial fibrillation. Curr Opin Cardiol. 29:220–226. 2014.
View Article : Google Scholar : PubMed/NCBI
|
35
|
Lyons I, Parsons LM, Hartley L, Li R,
Andrews JE, Robb L and Harvey RP: Myogenic and morphogenetic
defects in the heart tubes of murine embryos lacking the homeo box
gene Nkx2-5. Genes Dev. 9:1654–1666. 1995. View Article : Google Scholar : PubMed/NCBI
|
36
|
Tanaka M, Chen Z, Bartunkova S, Yamasaki N
and Izumo S: The cardiac homeobox gene Csx/Nkx2.5 lies genetically
upstream of multiple genes essential for heart development.
Development. 126:1269–1280. 1999.PubMed/NCBI
|
37
|
Jay PY, Harris BS, Maguire CT, Buerger A,
Wakimoto H, Tanaka M, Kupershmidt S, Roden DM, Schultheiss TM,
O'Brien TX, et al: Nkx2-5 mutation causes anatomic hypoplasia of
the cardiac conduction system. J Clin Invest. 113:1130–1137. 2004.
View Article : Google Scholar : PubMed/NCBI
|
38
|
Pashmforoush M, Lu JT, Chen H, Amand TS,
Kondo R, Pradervand S, Evans SM, Clark B, Feramisco JR, Giles W, et
al: Nkx2-5 pathways and congenital heart disease; loss of
ventricular myocyte lineage specification leads to progressive
cardiomyopathy and complete heart block. Cell. 117:373–386. 2004.
View Article : Google Scholar : PubMed/NCBI
|
39
|
Lalani SR and Belmont JW: Genetic basis of
congenital cardiovascular malformations. Eur J Med Genet.
57:402–413. 2014. View Article : Google Scholar : PubMed/NCBI
|
40
|
Gutierrez-Roelens I, De Roy L, Ovaert C,
Sluysmans T, Devriendt K, Brunner HG and Vikkula M: A novel
CSX/NKX2-5 mutation causes autosomal-dominant AV block: Are atrial
fibrillation and syncopes part of the phenotype? Eur J Hum Genet.
14:1313–1316. 2006. View Article : Google Scholar : PubMed/NCBI
|
41
|
Reamon-Buettner SM and Borlak J: NKX2-5:
An update on this hypermutable homeodomain protein and its role in
human congenital heart disease (CHD). Hum Mutat. 31:1185–1194.
2010. View Article : Google Scholar : PubMed/NCBI
|
42
|
Baruteau AE, Probst V and Abriel H:
Inherited progressive cardiac conduction disorders. Curr Opin
Cardiol. 30:33–39. 2015. View Article : Google Scholar : PubMed/NCBI
|
43
|
Ellesøe SG, Johansen MM, Bjerre JV,
Hjortdal VE, Brunak S and Larsen LA: Familial atrial septal defect
and sudden cardiac death: Identification of a novel NKX2-5 mutation
and a review of the literature. Congenit Heart Dis. 11:283–290.
2016. View Article : Google Scholar : PubMed/NCBI
|
44
|
Hassan OK Abou, Fahed AC, Batrawi M, Arabi
M, Refaat MM, DePalma SR, Seidman JG, Seidman CE, Bitar FF and
Nemer GM: NKX2-5 mutations in an inbred consanguineous population:
Genetic and phenotypic diversity. Sci Rep. 5:88482015. View Article : Google Scholar : PubMed/NCBI
|
45
|
Ashraf H, Pradhan L, Chang EI, Terada R,
Ryan NJ, Briggs LE, Chowdhury R, Zárate MA, Sugi Y, Nam HJ, et al:
A mouse model of human congenital heart disease: High incidence of
diverse cardiac anomalies and ventricular noncompaction produced by
heterozygous Nkx2-5 homeodomain missense mutation. Circ Cardiovasc
Genet. 7:423–433. 2014. View Article : Google Scholar : PubMed/NCBI
|
46
|
Chowdhury R, Ashraf H, Melanson M, Tanada
Y, Nguyen M, Silberbach M, Wakimoto H, Benson DW, Anderson RH and
Kasahara H: Mouse model of human congenital heart disease:
Progressive atrioventricular block induced by a heterozygous Nkx2-5
homeodomain missense mutation. Circ Arrhythm Electrophysiol.
8:1255–1264. 2015. View Article : Google Scholar : PubMed/NCBI
|
47
|
Benson DW: Genetics of atrioventricular
conductiondisease in humans. Anat Rec A Discov Mol Cell Evol Biol.
280:934–939. 2004. View Article : Google Scholar : PubMed/NCBI
|
48
|
Lu CX, Gong HR, Liu XY, Wang J, Zhao CM,
Huang RT, Xue S and Yang YQ: A novel HAND2 loss-of-function
mutation responsible for tetralogy of Fallot. Int J Mol Med.
37:445–451. 2016.PubMed/NCBI
|
49
|
Sun YM, Wang J, Qiu XB, Yuan F, Xu YJ, Li
RG, Qu XK, Huang RT, Xue S and Yang YQ: PITX2 loss-of-function
mutation contributes to tetralogy of Fallot. Gene. 577:258–264.
2016. View Article : Google Scholar : PubMed/NCBI
|