메뉴 건너뛰기




Volumn 9, Issue 10, 2000, Pages 1473-1480

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOPROTEIN;

EID: 0034641134     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.10.1473     Document Type: Article
Times cited : (106)

References (44)
  • 2
    • 0006268755 scopus 로고
    • Mandibulofacial dysostosis, a familial study of five generations
    • Rovin, S., Dachi, S.F., Borenstein, D.B. and Cotter, W.B. (1964) Mandibulofacial dysostosis, a familial study of five generations. J. Pediatr., 65, 215-221.
    • (1964) J. Pediatr. , vol.65 , pp. 215-221
    • Rovin, S.1    Dachi, S.F.2    Borenstein, D.B.3    Cotter, W.B.4
  • 3
    • 0014071819 scopus 로고
    • Mandibulo-facial dysostosis (Treacher Collins syndrome)
    • Fazen, L.E., Elmore, J. and Nadler, H.L. (1967) Mandibulo-facial dysostosis (Treacher Collins syndrome). Am. J. Dis. Child., 113, 406-410.
    • (1967) Am. J. Dis. Child. , vol.113 , pp. 406-410
    • Fazen, L.E.1    Elmore, J.2    Nadler, H.L.3
  • 4
    • 0029066345 scopus 로고
    • The Treacher Collins syndrome: A clinical, radiological and genetic linkage study on two pedigrees
    • Marres, H.A.M., Cremers, C.W.R.J., Dixon, M.J., Huygen, P.L.M. and Joosten, F.B.M. (1995) The Treacher Collins syndrome: A clinical, radiological and genetic linkage study on two pedigrees. Arch. Otolaryngol., 121, 509-514.
    • (1995) Arch. Otolaryngol. , vol.121 , pp. 509-514
    • Marres, H.A.M.1    Cremers, C.W.R.J.2    Dixon, M.J.3    Huygen, P.L.M.4    Joosten, F.B.M.5
  • 5
    • 0030070052 scopus 로고    scopus 로고
    • Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
    • The Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet., 12, 130-136.
    • (1996) Nature Genet. , vol.12 , pp. 130-136
  • 6
    • 0030903167 scopus 로고    scopus 로고
    • Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene
    • Dixon, J., Edwards, S.J., Anderson, I., Brass, A., Scambler, P.J. and Dixon, M.J. (1997) Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res., 7, 223-234.
    • (1997) Genome Res. , vol.7 , pp. 223-234
    • Dixon, J.1    Edwards, S.J.2    Anderson, I.3    Brass, A.4    Scambler, P.J.5    Dixon, M.J.6
  • 7
    • 0030995546 scopus 로고    scopus 로고
    • TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
    • Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M. and Jabs, E.W. (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc. Natl Acad. Sci. USA, 94, 3110-3115.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 3110-3115
    • Wise, C.A.1    Chiang, L.C.2    Paznekas, W.A.3    Sharma, M.4    Musy, M.M.5    Ashley, J.A.6    Lovett, M.7    Jabs, E.W.8
  • 8
    • 0031686476 scopus 로고    scopus 로고
    • Mutations in the Treacher Collins syndrome gene lead to mislocalisation of the nucleolar protein treacle
    • Marsh, K.L., Dixon, J. and Dixon, M.J. (1998) Mutations in the Treacher Collins syndrome gene lead to mislocalisation of the nucleolar protein treacle. Hum. Mol. Genet., 7, 1795-1800.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1795-1800
    • Marsh, K.L.1    Dixon, J.2    Dixon, M.J.3
  • 9
    • 0031740038 scopus 로고    scopus 로고
    • The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
    • Winokur, S.T. and Shiang, R. (1998) The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. Hum. Mol. Genet., 7, 1947-1952.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1947-1952
    • Winokur, S.T.1    Shiang, R.2
  • 10
    • 0029794933 scopus 로고    scopus 로고
    • Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene
    • Gladwin, A.J., Dixon, J., Loftus, S.K., Edwards, S., Wasmuth, J.J., Hennekam, R.C.M. and Dixon, M.J. (1996) Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum. Mol. Genet., 5, 1533-1538.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1533-1538
    • Gladwin, A.J.1    Dixon, J.2    Loftus, S.K.3    Edwards, S.4    Wasmuth, J.J.5    Hennekam, R.C.M.6    Dixon, M.J.7
  • 11
    • 0031038030 scopus 로고    scopus 로고
    • The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations which create a premature termination codon
    • Edwards, S.J., Gladwin, A.J. and Dixon, M.J. (1997) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations which create a premature termination codon. Am. J. Hum. Genet., 60, 515-524.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 515-524
    • Edwards, S.J.1    Gladwin, A.J.2    Dixon, M.J.3
  • 12
    • 0030940878 scopus 로고    scopus 로고
    • Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1
    • Dixon, J., Hovanes, K., Shiang, R. and Dixon, M.J. (1997) Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum. Mol. Genet., 6, 727-737.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 727-737
    • Dixon, J.1    Hovanes, K.2    Shiang, R.3    Dixon, M.J.4
  • 13
    • 0031559769 scopus 로고    scopus 로고
    • Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18
    • Paznekas, W.A., Zhang, N., Gridley, T. and Jabs, E.W. (1997) Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Biochem. Biophys. Res. Commun., 238, 1-6.
    • (1997) Biochem. Biophys. Res. Commun. , vol.238 , pp. 1-6
    • Paznekas, W.A.1    Zhang, N.2    Gridley, T.3    Jabs, E.W.4
  • 14
    • 0016728179 scopus 로고
    • The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis)
    • Poswillo, D. (1975) The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br. J. Oral Surg., 13, 1-26.
    • (1975) Br. J. Oral Surg. , vol.13 , pp. 1-26
    • Poswillo, D.1
  • 15
    • 0023254245 scopus 로고
    • Mandibulofacial dysostosis (Treacher Collins syndrome): A new proposal for its pathogenesis
    • Sulik, K.K., Johnston, M.C., Smiley, S.J., Speight, H.S. and Jarvis, B.E. (1987) Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Am. J. Med. Genet., 27, 359-372.
    • (1987) Am. J. Med. Genet. , vol.27 , pp. 359-372
    • Sulik, K.K.1    Johnston, M.C.2    Smiley, S.J.3    Speight, H.S.4    Jarvis, B.E.5
  • 16
    • 0023761040 scopus 로고
    • Teratogens and craniofacial malformations: Relationships to cell death
    • Sulik, K.K., Cook, C.S. and Webster, W.S. (1988) Teratogens and craniofacial malformations: Relationships to cell death. Development, 103S, 213-232.
    • (1988) Development , vol.103 S , pp. 213-232
    • Sulik, K.K.1    Cook, C.S.2    Webster, W.S.3
  • 17
    • 0020638690 scopus 로고
    • Effects of retinoic acid on the development of the facial skeleton in hamsters; early changes involving neural crest cells
    • Wiley, M.J., Cauwenbergs, P. and Taylor, I.M. (1983) Effects of retinoic acid on the development of the facial skeleton in hamsters; early changes involving neural crest cells. Acta Anat., 116, 180-192.
    • (1983) Acta Anat. , vol.116 , pp. 180-192
    • Wiley, M.J.1    Cauwenbergs, P.2    Taylor, I.M.3
  • 18
    • 0028989016 scopus 로고
    • NotchI is required for the coordinate segmentation of somites
    • Conlon, R.A., Reaume, A.G. and Rossant, J. (1995) NotchI is required for the coordinate segmentation of somites. Development, 121, 1533-1545.
    • (1995) Development , vol.121 , pp. 1533-1545
    • Conlon, R.A.1    Reaume, A.G.2    Rossant, J.3
  • 19
    • 0030031950 scopus 로고    scopus 로고
    • What's in a face
    • Winter, R.M. (1996) What's in a face. Nature Genet., 12, 124-129.
    • (1996) Nature Genet. , vol.12 , pp. 124-129
    • Winter, R.M.1
  • 20
    • 0031046284 scopus 로고    scopus 로고
    • A human homologue of the Drosophila eyes absent gene underlies branchio-otorenal (BOR) syndrome and identifies a novel gene family
    • Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M. et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-otorenal (BOR) syndrome and identifies a novel gene family. Nature Genet., 15, 157-164.
    • (1997) Nature Genet. , vol.15 , pp. 157-164
    • Abdelhak, S.1    Kalatzis, V.2    Heilig, R.3    Compain, S.4    Samson, D.5    Vincent, C.6    Weil, D.7    Cruaud, C.8    Sahly, I.9    Leibovici, M.10
  • 22
    • 0032842838 scopus 로고    scopus 로고
    • Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
    • Xu, P.-X., Adams, J., Peters, H., Brown, M.C., Heaney, S. and Maas, R. (1999) Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nature Genet., 23, 113-117.
    • (1999) Nature Genet. , vol.23 , pp. 113-117
    • Xu, P.-X.1    Adams, J.2    Peters, H.3    Brown, M.C.4    Heaney, S.5    Maas, R.6
  • 24
    • 0029777408 scopus 로고    scopus 로고
    • Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    • Chiang, C., Litingtung, Y., Lee, E., Young, K.E., Corden, J.L., Westphal, H. and Beachy, P.A. (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 383, 407-4-13.
    • (1996) Nature , vol.383 , pp. 407-413
    • Chiang, C.1    Litingtung, Y.2    Lee, E.3    Young, K.E.4    Corden, J.L.5    Westphal, H.6    Beachy, P.A.7
  • 25
    • 0030016204 scopus 로고    scopus 로고
    • Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging
    • Edwards, S.J., Fowlie, A., Cust, M.P., Liu, D.T.Y., Young, I.D. and Dixon, M.J. (1996) Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J. Med. Genet., 33, 603-606.
    • (1996) J. Med. Genet. , vol.33 , pp. 603-606
    • Edwards, S.J.1    Fowlie, A.2    Cust, M.P.3    Liu, D.T.Y.4    Young, I.D.5    Dixon, M.J.6
  • 27
    • 0028147035 scopus 로고
    • The contribution of both forebrain and midbrain crest cells to the mesenchyme in the frontonasal mass of mouse embryos
    • Osumi-Yamashita, N., Ninomiya, Y., Doi, H. and Eto, K. (1994) The contribution of both forebrain and midbrain crest cells to the mesenchyme in the frontonasal mass of mouse embryos. Dev Biol., 164, 409-419.
    • (1994) Dev Biol. , vol.164 , pp. 409-419
    • Osumi-Yamashita, N.1    Ninomiya, Y.2    Doi, H.3    Eto, K.4
  • 28
    • 0029068775 scopus 로고
    • Cranial paraxial mesoderm and neural crest cells of the mouse embryo: Co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches
    • Trainer, P.A. and Tam, P.P.L. (1995) Cranial paraxial mesoderm and neural crest cells of the mouse embryo: Co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches. Development, 121, 2569-2582.
    • (1995) Development , vol.121 , pp. 2569-2582
    • Trainer, P.A.1    Tam, P.P.L.2
  • 29
    • 0026773097 scopus 로고
    • Nopp140 shuttles on tracks between nucleolus and cytoplasm
    • Meier, UT. and Blobel, G. (1992) Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell, 70, 127-138.
    • (1992) Cell , vol.70 , pp. 127-138
    • Meier, U.T.1    Blobel, G.2
  • 30
    • 0033594085 scopus 로고    scopus 로고
    • Minifly, a Drosophila gene required for ribosome biogenesis
    • Giordano, E., Peluso, I., Senger, S. and Furia, M. (1999) minifly, A Drosophila gene required for ribosome biogenesis. J. Cell Biol., 144, 1123-1133.
    • (1999) J. Cell Biol. , vol.144 , pp. 1123-1133
    • Giordano, E.1    Peluso, I.2    Senger, S.3    Furia, M.4
  • 31
    • 0028808204 scopus 로고
    • Null mutation of the Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain
    • Qiu, M., Bulfone, A., Martinez, S., Meneses, J.J., Shimamura, K., Pedersen, R.A. and Rubenstein, J.L.R. (1995) Null mutation of the Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain. Genes Dev., 9, 2523-2538.
    • (1995) Genes Dev. , vol.9 , pp. 2523-2538
    • Qiu, M.1    Bulfone, A.2    Martinez, S.3    Meneses, J.J.4    Shimamura, K.5    Pedersen, R.A.6    Rubenstein, J.L.R.7
  • 32
    • 0030955889 scopus 로고    scopus 로고
    • Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: Mutations of Dlx-1, Dlx-2, and Dlx-1 and Dlx-2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches
    • Qiu, M., Bulfone, A., Ghattas, I., Meneses, J.J., Christensen, L., Sharpe, P.T., Presley, R., Pedersen, R.A. and Rubenstein, J.L.R. (1997) Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and Dlx-2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches. Dev. Biol., 185, 165-186.
    • (1997) Dev. Biol. , vol.185 , pp. 165-186
    • Qiu, M.1    Bulfone, A.2    Ghattas, I.3    Meneses, J.J.4    Christensen, L.5    Sharpe, P.T.6    Presley, R.7    Pedersen, R.A.8    Rubenstein, J.L.R.9
  • 33
    • 0032531737 scopus 로고    scopus 로고
    • An early phase of embryonic Dlx5 expression defines the rostral boundary of the neural plate
    • Yang, L., Zhang, H., Hu, G., Wang, H., Abate-Shen, C. and Shen, M.M. (1998) An early phase of embryonic Dlx5 expression defines the rostral boundary of the neural plate. J. Neurosci., 18, 8322-8330.
    • (1998) J. Neurosci. , vol.18 , pp. 8322-8330
    • Yang, L.1    Zhang, H.2    Hu, G.3    Wang, H.4    Abate-Shen, C.5    Shen, M.M.6
  • 36
    • 0030796030 scopus 로고    scopus 로고
    • Inductive interactions direct early regionalisation of the mouse forebrain
    • Shimamura, K. and Rubenstein, J.L.R. (1997) Inductive interactions direct early regionalisation of the mouse forebrain. Development, 124, 2709-2718.
    • (1997) Development , vol.124 , pp. 2709-2718
    • Shimamura, K.1    Rubenstein, J.L.R.2
  • 40
    • 0032899711 scopus 로고    scopus 로고
    • Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
    • Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F. and van Heyningen, V. (1999) Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum. Mol. Genet., 8, 165-172.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 165-172
    • Hanson, I.1    Churchill, A.2    Love, J.3    Axton, R.4    Moore, T.5    Clarke, M.6    Meire, F.7    Van Heyningen, V.8
  • 41
    • 0028074973 scopus 로고
    • PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
    • Glaser, T., Jepeal, L., Edwards, J.G., Young, S.R., Favor, J. and Maas, R.L. (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genet., 7, 463-471.
    • (1994) Nature Genet. , vol.7 , pp. 463-471
    • Glaser, T.1    Jepeal, L.2    Edwards, J.G.3    Young, S.R.4    Favor, J.5    Maas, R.L.6
  • 42
    • 0029946542 scopus 로고    scopus 로고
    • Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene
    • Zhao, Q., Behringer, R.R. and de Crombrugghe, B. (1996) Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Nature Genet., 13, 275-283.
    • (1996) Nature Genet. , vol.13 , pp. 275-283
    • Zhao, Q.1    Behringer, R.R.2    De Crombrugghe, B.3
  • 43
    • 0028979154 scopus 로고
    • Consequences of lack of beta 1 integrin gene expression in mice
    • Fussler, R. and Meyer, M. (1995) Consequences of lack of beta 1 integrin gene expression in mice. Genes Dev., 9, 1896-1908.
    • (1995) Genes Dev. , vol.9 , pp. 1896-1908
    • Fussler, R.1    Meyer, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.