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Volumn 10, Issue 4, 2011, Pages 2905-2915

Novel NKX2-5 mutations responsible for congenital heart disease

Author keywords

Congenital heart disease; Genetics; Transcription factor

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5; HOMEODOMAIN PROTEIN; NKX2 5 PROTEIN, HUMAN; NKX2-5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

EID: 84860510791     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2011.November.29.1     Document Type: Article
Times cited : (26)

References (33)
  • 1
    • 21344435944 scopus 로고    scopus 로고
    • Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases
    • Akazawa H and Komuro I (2005). Cardiac transcription factor Csx/Nkx2-5: its role in cardiac development and diseases. Pharmacol. Ther. 107: 252-268.
    • (2005) Pharmacol. Ther , vol.107 , pp. 252-268
    • Akazawa, H.1    Komuro, I.2
  • 2
    • 0033430230 scopus 로고    scopus 로고
    • Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
    • Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, et al. (1999). Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J. Clin. Invest. 104: 1567-1573.
    • (1999) J. Clin. Invest , vol.104 , pp. 1567-1573
    • Benson, D.W.1    Silberbach, G.M.2    Kavanaugh-McHugh, A.3    Cottrill, C.4
  • 3
    • 0034634279 scopus 로고    scopus 로고
    • Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5
    • Biben C, Weber R, Kesteven S, Stanley E, et al. (2000). Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ. Res. 87: 888-895.
    • (2000) Circ. Res , vol.87 , pp. 888-895
    • Biben, C.1    Weber, R.2    Kesteven, S.3    Stanley, E.4
  • 4
    • 53249096015 scopus 로고    scopus 로고
    • Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects
    • Briggs LE, Takeda M, Cuadra AE, Wakimoto H, et al. (2008). Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects. Circ. Res. 103: 580-590.
    • (2008) Circ. Res , vol.103 , pp. 580-590
    • Briggs, L.E.1    Takeda, M.2    Cuadra, A.E.3    Wakimoto, H.4
  • 5
    • 20144387341 scopus 로고    scopus 로고
    • Mutation in myosin heavy chain 6 causes atrial septal defect
    • Ching YH, Ghosh TK, Cross SJ, Packham EA, et al. (2005). Mutation in myosin heavy chain 6 causes atrial septal defect. Nat. Genet. 37: 423-428.
    • (2005) Nat. Genet , vol.37 , pp. 423-428
    • Ching, Y.H.1    Ghosh, T.K.2    Cross, S.J.3    Packham, E.A.4
  • 6
    • 0037975739 scopus 로고    scopus 로고
    • Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome
    • Elliott DA, Kirk EP, Yeoh T, Chandar S, et al. (2003). Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J. Am. Coll. Cardiol. 41: 2072-2076.
    • (2003) J. Am. Coll. Cardiol , vol.41 , pp. 2072-2076
    • Elliott, D.A.1    Kirk, E.P.2    Yeoh, T.3    Chandar, S.4
  • 7
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    • Garg V, Kathiriya IS, Barnes R, Schluterman MK, et al. (2003). GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424: 443-447.
    • (2003) Nature , vol.424 , pp. 443-447
    • Garg, V.1    Kathiriya, I.S.2    Barnes, R.3    Schluterman, M.K.4
  • 8
    • 24644467759 scopus 로고    scopus 로고
    • Mutations in NOTCH1 cause aortic valve disease
    • Garg V, Muth AN, Ransom JF, Schluterman MK, et al. (2005). Mutations in NOTCH1 cause aortic valve disease. Nature 437: 270-274.
    • (2005) Nature , vol.437 , pp. 270-274
    • Garg, V.1    Muth, A.N.2    Ransom, J.F.3    Schluterman, M.K.4
  • 9
    • 0032380010 scopus 로고    scopus 로고
    • Tinman function is essential for vertebrate heart development: Elimination of cardiac differentiation by dominant inhibitory mutants of the tinman-related genes, XNkx2-3 and XNkx2-5
    • Grow MW and Krieg PA (1998). Tinman function is essential for vertebrate heart development: elimination of cardiac differentiation by dominant inhibitory mutants of the tinman-related genes, XNkx2-3 and XNkx2-5. Dev. Biol. 204: 187-196.
    • (1998) Dev. Biol , vol.204 , pp. 187-196
    • Grow, M.W.1    Krieg, P.A.2
  • 10
    • 20944442976 scopus 로고    scopus 로고
    • Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
    • Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, et al. (2005). Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am. J. Med. Genet. A 135: 47-52.
    • (2005) Am. J. Med. Genet. A , vol.135 , pp. 47-52
    • Hirayama-Yamada, K.1    Kamisago, M.2    Akimoto, K.3    Aotsuka, H.4
  • 11
    • 0032975539 scopus 로고    scopus 로고
    • Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient
    • Hosoda T, Komuro I, Shiojima I, Hiroi Y, et al. (1999). Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient. Jpn. Circ. J. 63: 425-426.
    • (1999) Jpn. Circ. J , vol.63 , pp. 425-426
    • Hosoda, T.1    Komuro, I.2    Shiojima, I.3    Hiroi, Y.4
  • 12
    • 34250317669 scopus 로고    scopus 로고
    • Noninherited risk factors and congenital cardiovascular defects: Current knowledge: A scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics
    • Jenkins KJ, Correa A, Feinstein JA, Botto L, et al. (2007). Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115: 2995-3014.
    • (2007) Circulation , vol.115 , pp. 2995-3014
    • Jenkins, K.J.1    Correa, A.2    Feinstein, J.A.3    Botto, L.4
  • 13
    • 4444223413 scopus 로고    scopus 로고
    • Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies
    • Kasahara H and Benson DW (2004). Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc. Res. 64: 40-51.
    • (2004) Cardiovasc. Res , vol.64 , pp. 40-51
    • Kasahara, H.1    Benson, D.W.2
  • 14
    • 0033912859 scopus 로고    scopus 로고
    • Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease
    • Kasahara H, Lee B, Schott JJ, Benson DW, et al. (2000). Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. J. Clin. Invest. 106: 299-308.
    • (2000) J. Clin. Invest , vol.106 , pp. 299-308
    • Kasahara, H.1    Lee, B.2    Schott, J.J.3    Benson, D.W.4
  • 15
    • 0034947445 scopus 로고    scopus 로고
    • Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein
    • Kasahara H, Wakimoto H, Liu M, Maguire CT, et al. (2001). Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein. J. Clin. Invest. 108: 189-201.
    • (2001) J. Clin. Invest , vol.108 , pp. 189-201
    • Kasahara, H.1    Wakimoto, H.2    Liu, M.3    Maguire, C.T.4
  • 16
    • 69549138482 scopus 로고    scopus 로고
    • GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling
    • Kodo K, Nishizawa T, Furutani M, Arai S, et al. (2009). GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl. Acad. Sci U. S. A. 106: 13933-13938.
    • (2009) Proc Natl. Acad. Sci U. S. A , vol.106 , pp. 13933-13938
    • Kodo, K.1    Nishizawa, T.2    Furutani, M.3    Arai, S.4
  • 17
    • 1842413728 scopus 로고    scopus 로고
    • Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
    • Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, et al. (1997). Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat. Genet. 15: 21-29.
    • (1997) Nat. Genet , vol.15 , pp. 21-29
    • Li, Q.Y.1    Newbury-Ecob, R.A.2    Terrett, J.A.3    Wilson, D.I.4
  • 18
    • 60449094498 scopus 로고    scopus 로고
    • Heart disease and stroke statistics--2009 update: A report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee
    • Lloyd-Jones D, Adams R, Carnethon M, De Simone G, et al. (2009). Heart disease and stroke statistics--2009 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation 119: e21-181.
    • (2009) Circulation , vol.119 , pp. 21-181
    • Lloyd-Jones, D.1    Adams, R.2    Carnethon, M.3    De Simone, G.4
  • 19
    • 0029090829 scopus 로고
    • Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5
    • Lyons I, Parsons LM, Hartley L, Li R, et al. (1995). Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. Genes Dev. 9: 1654-1666.
    • (1995) Genes Dev , vol.9 , pp. 1654-1666
    • Lyons, I.1    Parsons, L.M.2    Hartley, L.3    Li, R.4
  • 20
    • 37849048968 scopus 로고    scopus 로고
    • Alpha-cardiac actin mutations produce atrial septal defects
    • Matsson H, Eason J, Bookwalter CS, Klar J, et al. (2008). Alpha-cardiac actin mutations produce atrial septal defects. Hum. Mol. Genet. 17: 256-265.
    • (2008) Hum. Mol. Genet , vol.17 , pp. 256-265
    • Matsson, H.1    Eason, J.2    Bookwalter, C.S.3    Klar, J.4
  • 21
    • 0017225391 scopus 로고
    • Recurrence risks in children having one parent with a congenital heart disease
    • Nora JJ and Nora AH (1976). Recurrence risks in children having one parent with a congenital heart disease. Circulation 53: 701-702.
    • (1976) Circulation , vol.53 , pp. 701-702
    • Nora, J.J.1    Nora, A.H.2
  • 22
    • 11144357335 scopus 로고    scopus 로고
    • Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block
    • Pashmforoush M, Lu JT, Chen H, Amand TS, et al. (2004). 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) Cell , vol.117 , pp. 373-386
    • Pashmforoush, M.1    Lu, J.T.2    Chen, H.3    Amand, T.S.4
  • 23
    • 34250305402 scopus 로고    scopus 로고
    • Genetic basis for congenital heart defects: Current knowledge: A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics
    • Pierpont ME, Basson CT, Benson DW Jr, Gelb BD, et al. (2007). Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115: 3015-3038.
    • (2007) Circulation , vol.115 , pp. 3015-3038
    • Pierpont, M.E.1    Basson, C.T.2    Benson, D.W.3    Gelb, B.D.4
  • 24
    • 33847344204 scopus 로고    scopus 로고
    • An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation
    • Prall OW, Menon MK, Solloway MJ, Watanabe Y, et al. (2007). An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation. Cell 128: 947-959.
    • (2007) Cell , vol.128 , pp. 947-959
    • Prall, O.W.1    Menon, M.K.2    Solloway, M.J.3    Watanabe, Y.4
  • 25
    • 34547539552 scopus 로고    scopus 로고
    • Germline gain-of-function mutations in RAF1 cause Noonan syndrome
    • Razzaque MA, Nishizawa T, Komoike Y, Yagi H, et al. (2007). Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat. Genet. 39: 1013-1017.
    • (2007) Nat. Genet , vol.39 , pp. 1013-1017
    • Razzaque, M.A.1    Nishizawa, T.2    Komoike, Y.3    Yagi, H.4
  • 26
    • 4444298928 scopus 로고    scopus 로고
    • Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
    • Reamon-Buettner SM and Borlak J (2004). Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J. Med. Genet. 41: 684-690.
    • (2004) J. Med. Genet , vol.41 , pp. 684-690
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 27
    • 33845900943 scopus 로고    scopus 로고
    • Germline gain-of-function mutations in SOS1 cause Noonan syndrome
    • Roberts AE, Araki T, Swanson KD, Montgomery KT, et al. (2007). Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat. Genet. 39: 70-74.
    • (2007) Nat. Genet , vol.39 , pp. 70-74
    • Roberts, A.E.1    Araki, T.2    Swanson, K.D.3    Montgomery, K.T.4
  • 28
    • 33644696097 scopus 로고    scopus 로고
    • Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    • Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, et al. (2006). Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311: 1287-1290.
    • (2006) Science , vol.311 , pp. 1287-1290
    • Rodriguez-Viciana, P.1    Tetsu, O.2    Tidyman, W.E.3    Estep, A.L.4
  • 29
    • 28444447608 scopus 로고    scopus 로고
    • Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
    • Sarkozy A, Conti E, Neri C, D'Agostino R, et al. (2005). Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J. Med. Genet. 42: e16.
    • (2005) J. Med. Genet , vol.42
    • Sarkozy, A.1    Conti, E.2    Neri, C.3    D'Agostino, R.4
  • 30
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NKX2-5
    • Schott JJ, Benson DW, Basson CT, Pease W, et al. (1998). Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281: 108-111.
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1    Benson, D.W.2    Basson, C.T.3    Pease, W.4
  • 31
    • 0029027507 scopus 로고
    • Assignment of cardiac homeobox gene CSX to human chromosome 5q34
    • Shiojima I, Komuro I, Inazawa J, Nakahori Y, et al. (1995). Assignment of cardiac homeobox gene CSX to human chromosome 5q34. Genomics 27: 204-206.
    • (1995) Genomics , vol.27 , pp. 204-206
    • Shiojima, I.1    Komuro, I.2    Inazawa, J.3    Nakahori, Y.4
  • 32
    • 78149237904 scopus 로고    scopus 로고
    • Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease
    • Stallmeyer B, Fenge H, Nowak-Gottl U and Schulze-Bahr E (2010). Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin. Genet. 78: 533-540.
    • (2010) Clin. Genet , vol.78 , pp. 533-540
    • Stallmeyer, B.1    Fenge, H.2    Nowak-Gottl, U.3    Schulze-Bahr, E.4
  • 33
    • 0032907924 scopus 로고    scopus 로고
    • The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development
    • Tanaka M, Chen Z, Bartunkova S, Yamasaki N, et al. (1999). The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development 126: 1269-1280.
    • (1999) Development , vol.126 , pp. 1269-1280
    • Tanaka, M.1    Chen, Z.2    Bartunkova, S.3    Yamasaki, N.4


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