메뉴 건너뛰기




Volumn 111, Issue 7, 2009, Pages 574-578

Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale

Author keywords

Cryptogenic; Genetics; NKX2 5; Patent foramen ovale; Stroke

Indexed keywords

ADULT; AGE; AGED; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; EXON; FEMALE; GENDER; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT LEFT SHUNT; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NKX2 5 GENE; NUCLEOTIDE SEQUENCE; PATENT FORAMEN OVALE; PERIPHERAL LYMPHOCYTE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDY; STROKE; STROKE PATIENT; TRANSESOPHAGEAL ECHOCARDIOGRAPHY;

EID: 67650421514     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2009.04.004     Document Type: Article
Times cited : (15)

References (42)
  • 2
    • 84980116047 scopus 로고
    • On the time of the post-natal obliteration of the fetal blood-passages (foramen ovale, ductus arteriosus, ductus venosus)
    • Scammon R.E., and Norris E.H. On the time of the post-natal obliteration of the fetal blood-passages (foramen ovale, ductus arteriosus, ductus venosus). Anat Rec. 15 (1918) 165-180
    • (1918) Anat Rec. , vol.15 , pp. 165-180
    • Scammon, R.E.1    Norris, E.H.2
  • 3
    • 84930146703 scopus 로고
    • Paradoxical embolism
    • Thompson T., and Evans W. Paradoxical embolism. Quart J Med 23 (1930) 135-150
    • (1930) Quart J Med , vol.23 , pp. 135-150
    • Thompson, T.1    Evans, W.2
  • 4
    • 0002318822 scopus 로고
    • The closure of the foramen ovale
    • Patten B.M. The closure of the foramen ovale. Am J Anat 48 (1931) 19-44
    • (1931) Am J Anat , vol.48 , pp. 19-44
    • Patten, B.M.1
  • 5
    • 0021352808 scopus 로고
    • Incidence and size of patent foramen ovale during the first 10 decades of life
    • Hagen P.T., Scholz D.G., and Edwards W.D. Incidence and size of patent foramen ovale during the first 10 decades of life. Mayo Clin Proc 59 (1984) 17-20
    • (1984) Mayo Clin Proc , vol.59 , pp. 17-20
    • Hagen, P.T.1    Scholz, D.G.2    Edwards, W.D.3
  • 6
    • 0027932157 scopus 로고
    • Comparison of transcranial contrast Doppler sonography and transesophageal contrast echocardiography for the detection of patent foramen ovale in young stroke patients
    • Job F.P., Ringelstein E.B., Grafen Y., Flachskampf F.A., Doherty C., Stochmanns A., et al. Comparison of transcranial contrast Doppler sonography and transesophageal contrast echocardiography for the detection of patent foramen ovale in young stroke patients. Am J Cardiol 74 (1994) 381-384
    • (1994) Am J Cardiol , vol.74 , pp. 381-384
    • Job, F.P.1    Ringelstein, E.B.2    Grafen, Y.3    Flachskampf, F.A.4    Doherty, C.5    Stochmanns, A.6
  • 7
    • 0031861858 scopus 로고    scopus 로고
    • The need to quantify right-to-left shunt in acute ischemic stroke: a case-control study
    • Serena J., Segura T., Pérez-Ayuso M.J., Bassaganyas J., Molins A., and Dávalos A. The need to quantify right-to-left shunt in acute ischemic stroke: a case-control study. Stroke 29 (1998) 1322-1328
    • (1998) Stroke , vol.29 , pp. 1322-1328
    • Serena, J.1    Segura, T.2    Pérez-Ayuso, M.J.3    Bassaganyas, J.4    Molins, A.5    Dávalos, A.6
  • 9
    • 33645451063 scopus 로고    scopus 로고
    • Almost perfect concordance between simultaneous transcranial Doppler and transesophageal echocardiography in the quantification of right-to-left shunts
    • Belvis R., Leta R.G., Marti-Fabregas J., Cocho D., Carreras F., Pons-Llado G., et al. Almost perfect concordance between simultaneous transcranial Doppler and transesophageal echocardiography in the quantification of right-to-left shunts. J Neuroimag 16 (2006) 133-138
    • (2006) J Neuroimag , vol.16 , pp. 133-138
    • Belvis, R.1    Leta, R.G.2    Marti-Fabregas, J.3    Cocho, D.4    Carreras, F.5    Pons-Llado, G.6
  • 10
    • 33646568138 scopus 로고    scopus 로고
    • Secondary stroke prevention in patients with cryptogenic stroke and patent foramen ovale
    • Belvís R., Martí-Fàbregas J., Cocho D., and Martí-Vilalta J.L. Secondary stroke prevention in patients with cryptogenic stroke and patent foramen ovale. Vasc Dis Prevent 3 (2006) 129-141
    • (2006) Vasc Dis Prevent , vol.3 , pp. 129-141
    • Belvís, R.1    Martí-Fàbregas, J.2    Cocho, D.3    Martí-Vilalta, J.L.4
  • 12
    • 0033980196 scopus 로고    scopus 로고
    • Significant association of atrial vulnerability with atrial septal abnormalities in young patients with ischemic stroke of unknown cause
    • Berthet K., Lavergne T., Cohen A., Guize L., Bousser M.G., Le Heuzey J.Y., et al. Significant association of atrial vulnerability with atrial septal abnormalities in young patients with ischemic stroke of unknown cause. Stroke 31 (2000) 398-403
    • (2000) Stroke , vol.31 , pp. 398-403
    • Berthet, K.1    Lavergne, T.2    Cohen, A.3    Guize, L.4    Bousser, M.G.5    Le Heuzey, J.Y.6
  • 13
    • 0027371189 scopus 로고
    • Atrial septal aneurysm and patent foramen ovale as risk factors for cryptogenic stroke in patients less than 55 years of age. A study using transesophageal echocardiography
    • Cabanes L., Mas J.L., Cohen A., Amarenco P., Cabanes P.A., Oubary P., et al. Atrial septal aneurysm and patent foramen ovale as risk factors for cryptogenic stroke in patients less than 55 years of age. A study using transesophageal echocardiography. Stroke 24 (1993) 1865-1873
    • (1993) Stroke , vol.24 , pp. 1865-1873
    • Cabanes, L.1    Mas, J.L.2    Cohen, A.3    Amarenco, P.4    Cabanes, P.A.5    Oubary, P.6
  • 15
    • 0027700251 scopus 로고
    • Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants
    • Lints T.J., Parsons L.M., Hartley L., Lyons I., and Harvey R.P. Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 119 (1993) 419-431
    • (1993) Development , vol.119 , pp. 419-431
    • Lints, T.J.1    Parsons, L.M.2    Hartley, L.3    Lyons, I.4    Harvey, R.P.5
  • 16
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NKX2-5
    • Schott J.J., Benson D.W., Basson C.T., Pease W., Silberbach G.M., Moak J.P., et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281 (1998) 108-111
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1    Benson, D.W.2    Basson, C.T.3    Pease, W.4    Silberbach, G.M.5    Moak, J.P.6
  • 17
    • 0033430230 scopus 로고    scopus 로고
    • Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
    • Benson D.W., Silberbach G.M., Kavanaugh-McHugh A., Cottrill C., Zhang Y., Riggs S., et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104 (1999) 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    Zhang, Y.5    Riggs, S.6
  • 18
    • 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., Harada M., Murakawa Y., et al. 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 (1999) 425-426
    • (1999) Jpn Circ J , vol.63 , pp. 425-426
    • Hosoda, T.1    Komuro, I.2    Shiojima, I.3    Hiroi, Y.4    Harada, M.5    Murakawa, Y.6
  • 19
    • 0035923555 scopus 로고    scopus 로고
    • NKX2.5 mutations in patients with tetralogy of Fallot
    • Goldmuntz E., Geiger E., and Benson D.W. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 104 (2001) 2565-2568
    • (2001) Circulation , vol.104 , pp. 2565-2568
    • Goldmuntz, E.1    Geiger, E.2    Benson, D.W.3
  • 20
    • 0036306830 scopus 로고    scopus 로고
    • Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease
    • Ikeda Y., Hiroi Y., Hosoda T., Utsunomiya T., Matsuo S., Ito T., et al. Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease. Circ J 66 (2002) 561-563
    • (2002) Circ J , vol.66 , pp. 561-563
    • Ikeda, Y.1    Hiroi, Y.2    Hosoda, T.3    Utsunomiya, T.4    Matsuo, S.5    Ito, T.6
  • 21
    • 0036631483 scopus 로고    scopus 로고
    • Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene
    • Gutierrez-Roelens I., Sluysmans T., Gewillig M., Devriendt K., and Vikkuta M. Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutat 20 (2002) 75-76
    • (2002) Hum Mutat , vol.20 , pp. 75-76
    • Gutierrez-Roelens, I.1    Sluysmans, T.2    Gewillig, M.3    Devriendt, K.4    Vikkuta, M.5
  • 22
    • 0036848609 scopus 로고    scopus 로고
    • Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
    • Watanabe Y., Benson D.W., Yano S., Akagi T., Yoshino M., and Murria J.C. Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 39 (2002) 807-811
    • (2002) J Med Genet , vol.39 , pp. 807-811
    • Watanabe, Y.1    Benson, D.W.2    Yano, S.3    Akagi, T.4    Yoshino, M.5    Murria, J.C.6
  • 24
    • 4444223413 scopus 로고    scopus 로고
    • Biochemical analyses of eight NKX2-5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies
    • Kasahara H., and Benson D.W. Biochemical analyses of eight NKX2-5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res 64 (2004) 40-51
    • (2004) Cardiovasc Res , vol.64 , pp. 40-51
    • Kasahara, H.1    Benson, D.W.2
  • 27
    • 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., Digilio M.C., Esposito G., et al. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 42 (2005) e16
    • (2005) J Med Genet , vol.42
    • Sarkozy, A.1    Conti, E.2    Neri, C.3    D'Agostino, R.4    Digilio, M.C.5    Esposito, G.6
  • 28
    • 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., McDonald L., Elliot D.A., et al. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ Res 87 (2000) 888-895
    • (2000) Circ Res , vol.87 , pp. 888-895
    • Biben, C.1    Weber, R.2    Kesteven, S.3    Stanley, E.4    McDonald, L.5    Elliot, D.A.6
  • 29
    • 33645291259 scopus 로고    scopus 로고
    • Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse
    • Kirk E.P., Hyun C., Thomson P.C., Lai D., Castro M.L., Biben C., et al. Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse. Circ Res 98 (2006) 651-658
    • (2006) Circ Res , vol.98 , pp. 651-658
    • Kirk, E.P.1    Hyun, C.2    Thomson, P.C.3    Lai, D.4    Castro, M.L.5    Biben, C.6
  • 30
    • 0038463543 scopus 로고    scopus 로고
    • A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5
    • Tanaka M., Berul C.I., Ishii M., Jay P.Y., Wakimoto H., Douglas P., et al. A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5. Cold Spring Harb Symp Quant Biol 67 (2002) 317-325
    • (2002) Cold Spring Harb Symp Quant Biol , vol.67 , pp. 317-325
    • Tanaka, M.1    Berul, C.I.2    Ishii, M.3    Jay, P.Y.4    Wakimoto, H.5    Douglas, P.6
  • 31
    • 16644398147 scopus 로고    scopus 로고
    • Association of human connexin 40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation
    • Firouzi M., Ramanna H., Kok B., Koeleman B.P.C., Doevendans P.A., Groenewegen A., et al. Association of human connexin 40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation. Circ Res 95 (2004) 29-33
    • (2004) Circ Res , vol.95 , pp. 29-33
    • Firouzi, M.1    Ramanna, H.2    Kok, B.3    Koeleman, B.P.C.4    Doevendans, P.A.5    Groenewegen, A.6
  • 32
    • 19944433892 scopus 로고    scopus 로고
    • Expression of connexins 40 and 43 in human left atrium in atrial fibrillation of different aetiologies
    • Wetzel U., Boldt A., Lauschke J., Weigl J., Schirdewahn P., Dorszewsli, et al. Expression of connexins 40 and 43 in human left atrium in atrial fibrillation of different aetiologies. Heart 91 (2005) 166-170
    • (2005) Heart , vol.91 , pp. 166-170
    • Wetzel, U.1    Boldt, A.2    Lauschke, J.3    Weigl, J.4    Schirdewahn, P.5    Dorszewsli6
  • 33
    • 0037350193 scopus 로고    scopus 로고
    • Nkx2.5 homeoprotein regulates expression of gap junction protein connexin 43 and sarcomere organization in postnatal cardiomyocytes
    • Kasahara H., Ueyama T., Wakimoto H., Liu M.K., Maguire C.T., Converso K.L., et al. Nkx2.5 homeoprotein regulates expression of gap junction protein connexin 43 and sarcomere organization in postnatal cardiomyocytes. J Mol Cell Cardiol 35 (2003) 243-256
    • (2003) J Mol Cell Cardiol , vol.35 , pp. 243-256
    • Kasahara, H.1    Ueyama, T.2    Wakimoto, H.3    Liu, M.K.4    Maguire, C.T.5    Converso, K.L.6
  • 34
    • 0027514354 scopus 로고
    • Classification of subtype of acute ischemic stroke: definition for use in multicenter clinical trial
    • Adams Jr. H.P., Bendixen B.H., Kappelle L.J., Biller J., Love B.B., Gordon D.L., et al. Classification of subtype of acute ischemic stroke: definition for use in multicenter clinical trial. Stroke 24 (1993) 35-41
    • (1993) Stroke , vol.24 , pp. 35-41
    • Adams Jr., H.P.1    Bendixen, B.H.2    Kappelle, L.J.3    Biller, J.4    Love, B.B.5    Gordon, D.L.6
  • 35
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1216
    • (1988) Nucleic Acids Res , vol.16 , pp. 1216
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 36
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart defects and reveal interaction with TBX5
    • Garg V., Kathiriya I.S., Barnes R., Schluterman M.K., King I.N., Butler C.A., et al. GATA4 mutations cause human congenital heart defects and reveal interaction with TBX5. Nature 424 (2003) 443-447
    • (2003) Nature , vol.424 , pp. 443-447
    • Garg, V.1    Kathiriya, I.S.2    Barnes, R.3    Schluterman, M.K.4    King, I.N.5    Butler, C.A.6
  • 37
    • 17944378083 scopus 로고    scopus 로고
    • A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
    • Bruneau B.G., Nemer G., Schmitt J.P., Charron F., Robitaille L., Caron S., et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106 (2001) 709-721
    • (2001) Cell , vol.106 , pp. 709-721
    • Bruneau, B.G.1    Nemer, G.2    Schmitt, J.P.3    Charron, F.4    Robitaille, L.5    Caron, S.6
  • 38
    • 38349171168 scopus 로고    scopus 로고
    • The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?
    • Akçaboy M.I., Cengiz F.B., Inceoǧlu B., Uçar T., Atalay S., Tutar E., et al. The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?. Pediatr Cardiol 29 (2008) 126-129
    • (2008) Pediatr Cardiol , vol.29 , pp. 126-129
    • Akçaboy, M.I.1    Cengiz, F.B.2    Inceoǧlu, B.3    Uçar, T.4    Atalay, S.5    Tutar, E.6
  • 39
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • Liu H.X., Cartegni L., Zhang M.Q., and Krainer A.R. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27 (2001) 55-58
    • (2001) Nat Genet , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3    Krainer, A.R.4
  • 40
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson C.L., Hahnen E., Androphy E.J., and Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 96 (1999) 6307-6311
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 41
    • 0037975739 scopus 로고    scopus 로고
    • Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplasic left heart syndrome
    • Elliott D.A., Kirk E.P., Yeoh T., Chandar S., McKenzie F., Taylor P., et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplasic left heart syndrome. J Am Coll Cardiol 41 (2003) 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    McKenzie, F.5    Taylor, P.6
  • 42
    • 37849053289 scopus 로고    scopus 로고
    • Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
    • Posch M.G., Perrot A., Schmitt K., Mittelhaus S., Esenwein E.M., Stiller B., et al. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A 146A (2008) 251-253
    • (2008) Am J Med Genet A , vol.146 A , pp. 251-253
    • Posch, M.G.1    Perrot, A.2    Schmitt, K.3    Mittelhaus, S.4    Esenwein, E.M.5    Stiller, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.