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Volumn 25, Issue 1, 2000, Pages 42-46

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSCRIPTION FACTOR;

EID: 0034022637     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75578     Document Type: Article
Times cited : (237)

References (33)
  • 1
    • 0002413951 scopus 로고    scopus 로고
    • Patent ductus arteriosus. (eds Garson, A.J., Bricker, J.T., Fisher, D.J. & Neish, S.R.) Williams and Wilkins. Baltimore
    • Mullins, C.E. & Pagotto, L. Patent ductus arteriosus. in The Science and Practice of Pediatric Cardiology (eds Garson, A.J., Bricker, J.T., Fisher, D.J. & Neish, S.R.) 1181-1197 (Williams and Wilkins. Baltimore, 1998).
    • (1998) The Science and Practice of Pediatric Cardiology , pp. 1181-1197
    • Mullins, C.E.1    Pagotto, L.2
  • 2
    • 0023848717 scopus 로고
    • Update on counseling the family with a first degree relative with a congenital heart defects
    • Nora, J.J. & Nora, A.H. Update on counseling the family with a first degree relative with a congenital heart defects. Am. J. Med. Genet. 29, 137-142 (1988).
    • (1988) Am. J. Med. Genet. , vol.29 , pp. 137-142
    • Nora, J.J.1    Nora, A.H.2
  • 4
    • 0018163665 scopus 로고
    • Peculiar facies with short philtrum, duck-bill lips, ptosis, and low-set ears - A new syndrome?
    • Char, F. Peculiar facies with short philtrum, duck-bill lips, ptosis, and low-set ears - a new syndrome? Birth Defects Orig. Arctic Ser. 14, 303-305 (1978).
    • (1978) Birth Defects Orig. Arctic Ser. , vol.14 , pp. 303-305
    • Char, F.1
  • 5
    • 0033564061 scopus 로고    scopus 로고
    • Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21
    • Satoda, M., Pierpont, M.E.M., Diaz, G.A. & Gelb, B.D. Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. Circulation 99, 3036-3042 (1999).
    • (1999) Circulation , vol.99 , pp. 3036-3042
    • Satoda, M.1    Pierpont, M.E.M.2    Diaz, G.A.3    Gelb, B.D.4
  • 6
    • 0029119180 scopus 로고
    • Cloning and characterization of a second AP-2 transcription factor: AP-2β
    • Moser, M. et al. Cloning and characterization of a second AP-2 transcription factor: AP-2β. Development 121, 2779-2788 (1995).
    • (1995) Development , vol.121 , pp. 2779-2788
    • Moser, M.1
  • 7
    • 0027215132 scopus 로고
    • A large family with patent ductus arteriosus and unusual face
    • Davidson, H.R. A large family with patent ductus arteriosus and unusual face. J. Med. Genet. 30, 503-505 (1993).
    • (1993) J. Med. Genet. , vol.30 , pp. 503-505
    • Davidson, H.R.1
  • 8
    • 0025736199 scopus 로고
    • Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins
    • Williams, T. & Tjian, R. Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins. Science 251, 1067-1071 (1991).
    • (1991) Science , vol.251 , pp. 1067-1071
    • Williams, T.1    Tjian, R.2
  • 9
    • 0025865916 scopus 로고
    • Analysis of the DNA-binding and activation properties of the human transcriptional factor AP-2
    • Williams, T. & Tjian, R. Analysis of the DNA-binding and activation properties of the human transcriptional factor AP-2. Genes Dev. 5, 670-682 (1991).
    • (1991) Genes Dev. , vol.5 , pp. 670-682
    • Williams, T.1    Tjian, R.2
  • 10
    • 0032954206 scopus 로고    scopus 로고
    • Coactivator PC4 mediates AP-2 transcriptional activity and suppresses ras-induced transformation dependent on AP-2 transcriptional interference
    • Kannan, P. & Tainsky, M.A. Coactivator PC4 mediates AP-2 transcriptional activity and suppresses ras-induced transformation dependent on AP-2 transcriptional interference. Mol. Cell. Biol. 19, 899-908 (1999).
    • (1999) Mol. Cell. Biol. , vol.19 , pp. 899-908
    • Kannan, P.1    Tainsky, M.A.2
  • 11
    • 0344258423 scopus 로고    scopus 로고
    • PolyADP-ribose polymerase is a coactivator for AP-2-mediated transcriptional activation
    • Kannan, P., Yu, Y., Wankhade, S. & Tainsky, M.A. PolyADP-ribose polymerase is a coactivator for AP-2-mediated transcriptional activation. Nucleic Acids Res. 27, 866-874 (1999).
    • (1999) Nucleic Acids Res. , vol.27 , pp. 866-874
    • Kannan, P.1    Yu, Y.2    Wankhade, S.3    Tainsky, M.A.4
  • 12
    • 0024740707 scopus 로고
    • Regulation of transcription factor AP-2 by the morphogen retinoic acid and by second messengers
    • Lüscher, B., Mitchell, P.-J., Williams, T. & Tjian, R. Regulation of transcription factor AP-2 by the morphogen retinoic acid and by second messengers. Genes Dev. 3, 1507-1517 (1989).
    • (1989) Genes Dev. , vol.3 , pp. 1507-1517
    • Lüscher, B.1    Mitchell, P.-J.2    Williams, T.3    Tjian, R.4
  • 13
    • 0025967317 scopus 로고
    • Transcriptional factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis
    • Mitchell, P.J., Timmons, P.M., Hébert, J.M., Rigby, P.W.J. & Tjian, R. Transcriptional factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis. Genes Dev. 5, 105-119 (1991).
    • (1991) Genes Dev. , vol.5 , pp. 105-119
    • Mitchell, P.J.1    Timmons, P.M.2    Hébert, J.M.3    Rigby, P.W.J.4    Tjian, R.5
  • 14
    • 0028130370 scopus 로고
    • Cell type-specific regulation of expression of transcription factor AP-2 in neuroectodermal cells
    • Philipp, J., Mitchell, P.J., Maliciero, U. & Fontana, A. Cell type-specific regulation of expression of transcription factor AP-2 in neuroectodermal cells. Dev. Biol. 165, 602-614 (1994).
    • (1994) Dev. Biol. , vol.165 , pp. 602-614
    • Philipp, J.1    Mitchell, P.J.2    Maliciero, U.3    Fontana, A.4
  • 15
    • 1842371524 scopus 로고    scopus 로고
    • Comparative analysis of AP-2α and AP-2β gene expression during mouse embryogenesis
    • Moser, M., Rüschoff, J. & Buettner, R. Comparative analysis of AP-2α and AP-2β gene expression during mouse embryogenesis. Dev. Dyn. 208, 115-124 (1997).
    • (1997) Dev. Dyn. , vol.208 , pp. 115-124
    • Moser, M.1    Rüschoff, J.2    Buettner, R.3
  • 16
    • 15444347159 scopus 로고    scopus 로고
    • Enhanced apoptotic cell death of renal epithelial cell in mice lacking transcriptional factor AP-2β
    • Moser, M. et al. Enhanced apoptotic cell death of renal epithelial cell in mice lacking transcriptional factor AP-2β. Genes Dev. 11, 1938-1948(1997).
    • (1997) Genes Dev. , vol.11 , pp. 1938-1948
    • Moser, M.1
  • 17
    • 0020640517 scopus 로고
    • Neural crest cells contribute to normal aorticopulmonary septation
    • Kirby, M.L., Gale, T.F. & Stewart, D.E. Neural crest cells contribute to normal aorticopulmonary septation. Science 220, 1059-1061 (1963).
    • (1963) Science , vol.220 , pp. 1059-1061
    • Kirby, M.L.1    Gale, T.F.2    Stewart, D.E.3
  • 18
    • 0027486692 scopus 로고
    • Cardiac neural crest contribution to the pulmonary artery and sixth aortic arch artery complex in chick embryos aged 6 to 18 days
    • Waldo, K.L. & Kirby, M.L. Cardiac neural crest contribution to the pulmonary artery and sixth aortic arch artery complex in chick embryos aged 6 to 18 days. Anat. Rec. 237, 385-399 (1993).
    • (1993) Anat. Rec. , vol.237 , pp. 385-399
    • Waldo, K.L.1    Kirby, M.L.2
  • 20
    • 0026551603 scopus 로고
    • Migration of cranial neural crest cells to the pharyngeal arches and heart in rat embryos
    • Fukiishi, Y. & Morriss-Kay, G.M. Migration of cranial neural crest cells to the pharyngeal arches and heart in rat embryos. Cell Tiss. Res. 268, 1-8(1992).
    • (1992) Cell Tiss. Res. , vol.268 , pp. 1-8
    • Fukiishi, Y.1    Morriss-Kay, G.M.2
  • 21
    • 0023104084 scopus 로고
    • Pathogenesis of persistent truncus arteriosus and dextraposed aorta in the chick embryo after neural crest ablation
    • Nishibatake, M., Kirby, M.L. & van Mierop, L.H. Pathogenesis of persistent truncus arteriosus and dextraposed aorta in the chick embryo after neural crest ablation. Circulation 75, 255-264 (1987).
    • (1987) Circulation , vol.75 , pp. 255-264
    • Nishibatake, M.1    Kirby, M.L.2    Van Mierop, L.H.3
  • 22
    • 0032128263 scopus 로고    scopus 로고
    • Role of endothelin-1/endothelin-a receptor-mediated signaling pathway in the aortic arch patterning in mice
    • Yanagisawa, H. et al. Role of endothelin-1/endothelin-a receptor-mediated signaling pathway in the aortic arch patterning in mice. J. Clin. Invest. 102, 22-33 (1998).
    • (1998) J. Clin. Invest. , vol.102 , pp. 22-33
    • Yanagisawa, H.1
  • 23
    • 0024414235 scopus 로고
    • Persistent truncus arteriosus in the Splotch mutant mouse
    • Franz, T. Persistent truncus arteriosus in the Splotch mutant mouse. Anat. Embryol. 180, 457-474 (1989).
    • (1989) Anat. Embryol. , vol.180 , pp. 457-474
    • Franz, T.1
  • 24
    • 0025925068 scopus 로고
    • Splotch (Sp2h), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
    • Epstein, D.J., Vekemans, M. & Gros, P. splotch (Sp2h), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67, 767-774 (1991).
    • (1991) Cell , vol.67 , pp. 767-774
    • Epstein, D.J.1    Vekemans, M.2    Gros, P.3
  • 25
    • 0028907907 scopus 로고
    • Cardiac malformation in neonatal mice lacking connexin43
    • Reaume, A.G. et al. Cardiac malformation in neonatal mice lacking connexin43. Science 267, 1831-1834 (1995).
    • (1995) Science , vol.267 , pp. 1831-1834
    • Reaume, A.G.1
  • 26
    • 0030972376 scopus 로고    scopus 로고
    • Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene
    • Ewart, J.L. et al. Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene. Development 124, 1281-1292 (1997).
    • (1997) Development , vol.124 , pp. 1281-1292
    • Ewart, J.L.1
  • 27
    • 0032373862 scopus 로고    scopus 로고
    • Heart malformations in transgenic mice exhibiting dominant negative inhibition of gap junctional communication in neural crest cells
    • Sullivan, R. et al. Heart malformations in transgenic mice exhibiting dominant negative inhibition of gap junctional communication in neural crest cells. Dev. Biol. 204, 224-234 (1998).
    • (1998) Dev. Biol. , vol.204 , pp. 224-234
    • Sullivan, R.1
  • 28
    • 0033560865 scopus 로고    scopus 로고
    • Connexin 43 expression reflects neural crest patterns during cardiovascular development
    • Waldo, K.L., Lo, C.W. & Kirby, M.L. Connexin 43 expression reflects neural crest patterns during cardiovascular development. Dev. Biol. 208, 307-323 (1999).
    • (1999) Dev. Biol. , vol.208 , pp. 307-323
    • Waldo, K.L.1    Lo, C.W.2    Kirby, M.L.3
  • 29
    • 0032054568 scopus 로고    scopus 로고
    • Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field
    • Wilson, G.N. Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field. Am. J. Med. Genet. 76, 297-305 (1998).
    • (1998) Am. J. Med. Genet. , vol.76 , pp. 297-305
    • Wilson, G.N.1
  • 30
    • 0030636780 scopus 로고    scopus 로고
    • Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
    • Basson, C.T. et al. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15, 30-35 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 30-35
    • Basson, C.T.1
  • 31
    • 1842413728 scopus 로고    scopus 로고
    • Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
    • Li, Q.Y. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genet. 15, 21-29 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 21-29
    • Li, Q.Y.1
  • 32
    • 0030986873 scopus 로고    scopus 로고
    • Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
    • Bamshad, M. et al. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nature Genet. 16, 311-315 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 311-315
    • Bamshad, M.1
  • 33
    • 0031149142 scopus 로고    scopus 로고
    • An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region
    • Lens, X.M. et al. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics 41, 463-466 (1997).
    • (1997) Genomics , vol.41 , pp. 463-466
    • Lens, X.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.