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Volumn 8, Issue 4, 2013, Pages

Defining the Sequence Elements and Candidate Genes for the Coloboma Mutation

Author keywords

[No Author keywords available]

Indexed keywords

CENTROMERE PROTEIN H; CYCLIN DEPENDENT KINASE 7; MESSENGER RNA; MITOCHONDRIAL RIBOSOMAL PROTEIN SUBUNIT 36; NUCLEAR PROTEIN; SOLUTE CARRIER FAMILY 30 MEMBER 5; UNCLASSIFIED DRUG; ZINC TRANSPORTER;

EID: 84876035315     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0060267     Document Type: Article
Times cited : (5)

References (80)
  • 1
    • 84855395703 scopus 로고    scopus 로고
    • National Vital Statistics Reports. Births: Final data for 2008
    • Martin JA, Hamilton BE, Sutton PD, Ventura SJ, Mathews TJ, et al. (2010) National Vital Statistics Reports. Births: Final data for 2008. 59(1): 1-72.
    • (2010) , vol.59 , Issue.1 , pp. 1-72
    • Martin, J.A.1    Hamilton, B.E.2    Sutton, P.D.3    Ventura, S.J.4    Mathews, T.J.5
  • 4
    • 79951989442 scopus 로고    scopus 로고
    • Chromosomal mapping and candidate gene discovery of chicken developmental mutants and genome-wide variation analysis of MHC congenics
    • Robb EA, Gitter CL, Cheng HH, Delany ME, (2011) Chromosomal mapping and candidate gene discovery of chicken developmental mutants and genome-wide variation analysis of MHC congenics. J Hered 102(2): 141-156.
    • (2011) J Hered , vol.102 , Issue.2 , pp. 141-156
    • Robb, E.A.1    Gitter, C.L.2    Cheng, H.H.3    Delany, M.E.4
  • 5
    • 3543144805 scopus 로고    scopus 로고
    • The chick embryo-past, present and future as a model system in developmental biology. Special Edition: The Chick in Developmental Biology (pg 1009-1186)
    • Stern CD, (2004) The chick embryo-past, present and future as a model system in developmental biology. Special Edition: The Chick in Developmental Biology (pg 1009-1186). Mech Dev 121(9): 1011-1013.
    • (2004) Mech Dev , vol.121 , Issue.9 , pp. 1011-1013
    • Stern, C.D.1
  • 6
    • 0037306116 scopus 로고    scopus 로고
    • The chicken as a model for large-scale analysis of vertebrate gene function
    • Brown WR, Hubbard SJ, Tickle C, Wilson SA, (2003) The chicken as a model for large-scale analysis of vertebrate gene function. Nat Rev Genet 4(2): 87-98.
    • (2003) Nat Rev Genet , vol.4 , Issue.2 , pp. 87-98
    • Brown, W.R.1    Hubbard, S.J.2    Tickle, C.3    Wilson, S.A.4
  • 7
    • 3543110787 scopus 로고    scopus 로고
    • The chicken genome and the developmental biologist
    • Burt DW, (2004) The chicken genome and the developmental biologist. Mech Dev 121(9): 1129-1135.
    • (2004) Mech Dev , vol.121 , Issue.9 , pp. 1129-1135
    • Burt, D.W.1
  • 8
    • 48849115901 scopus 로고    scopus 로고
    • Use of chicken models for the analysis of human disease
    • Chapter 15: Unit 15.5
    • Dodgson JB, Romanov MN (2004) Use of chicken models for the analysis of human disease. Curr Protoc Hum Genet Chapter 15: Unit 15.5.
    • (2004) Curr Protoc Hum Genet
    • Dodgson, J.B.1    Romanov, M.N.2
  • 9
    • 3543117773 scopus 로고    scopus 로고
    • The contribution of chicken embryology to the understanding of vertebrate limb development
    • Tickle C, (2004) The contribution of chicken embryology to the understanding of vertebrate limb development. Mech Dev 121: 1019-1029.
    • (2004) Mech Dev , vol.121 , pp. 1019-1029
    • Tickle, C.1
  • 10
    • 3543080406 scopus 로고    scopus 로고
    • Much more from the chicken's egg than breakfast-a wonderful model system
    • Wolpert L, (2004) Much more from the chicken's egg than breakfast-a wonderful model system. Mech Dev 121(9): 1015-1017.
    • (2004) Mech Dev , vol.121 , Issue.9 , pp. 1015-1017
    • Wolpert, L.1
  • 11
    • 10644283823 scopus 로고    scopus 로고
    • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
    • International Chicken Genome Sequencing Consortium
    • International Chicken Genome Sequencing Consortium, (2004) Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature 432: 695-716.
    • (2004) Nature , vol.432 , pp. 695-716
  • 13
    • 3543115589 scopus 로고    scopus 로고
    • Genetic variants for chick biology research: from breeds to mutants
    • Delany M, (2004) Genetic variants for chick biology research: from breeds to mutants. Mech Dev 121: 1169-1177.
    • (2004) Mech Dev , vol.121 , pp. 1169-1177
    • Delany, M.1
  • 14
    • 84856459409 scopus 로고    scopus 로고
    • The expression of pre-axial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical model
    • Robb EA, Delany ME, (2012) The expression of pre-axial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical model. Cytogenet Genome Res 136: 50-68.
    • (2012) Cytogenet Genome Res , vol.136 , pp. 50-68
    • Robb, E.A.1    Delany, M.E.2
  • 17
    • 0002326109 scopus 로고
    • Congenital coloboma of the macula: Together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet
    • Sorsby A, (1935) Congenital coloboma of the macula: Together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthalmol. 19(2): 65-90.
    • (1935) Br J Ophthalmol , vol.19 , Issue.2 , pp. 65-90
    • Sorsby, A.1
  • 18
    • 0005545360 scopus 로고
    • Studies of the inheritance of coloboma of the iris in the domestic fowl
    • Wilcox FH, (1958) Studies of the inheritance of coloboma of the iris in the domestic fowl. J Hered 49: 107-110.
    • (1958) J Hered , vol.49 , pp. 107-110
    • Wilcox, F.H.1
  • 20
    • 0013634247 scopus 로고
    • Lethal mutant traits in chickens
    • In: Crawford RD, editor, Amsterdam, The Netherlands: Elsevier BV
    • Somes RG (1990) Lethal mutant traits in chickens. In: Crawford RD, editor. Poultry breeding and genetics. Amsterdam, The Netherlands: Elsevier BV. 293-331.
    • (1990) Poultry breeding and genetics , pp. 293-331
    • Somes, R.G.1
  • 21
    • 0002787866 scopus 로고    scopus 로고
    • Colobomatous microphalmia, anophthalmia, and associated malformation syndromes
    • In Traboulsi EI, editor, New York: Oxford University Press
    • Traboulsi EI (1999) Colobomatous microphalmia, anophthalmia, and associated malformation syndromes. In Traboulsi EI, editor. Genetic Diseases of the Eye. New York: Oxford University Press. 51-80.
    • (1999) Genetic Diseases of the Eye , pp. 51-80
    • Traboulsi, E.I.1
  • 22
    • 0032818483 scopus 로고    scopus 로고
    • Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations
    • Eccles MR, Schimmenti LA, (1999) Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clin Genet 56(1): 1-9.
    • (1999) Clin Genet , vol.56 , Issue.1 , pp. 1-9
    • Eccles, M.R.1    Schimmenti, L.A.2
  • 23
    • 0034425404 scopus 로고    scopus 로고
    • Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
    • Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, et al. (2000) Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 25(4): 397-401.
    • (2000) Nat Genet , vol.25 , Issue.4 , pp. 397-401
    • Ferda Percin, E.1    Ploder, L.A.2    Yu, J.J.3    Arici, K.4    Horsford, D.J.5
  • 24
    • 0038353669 scopus 로고    scopus 로고
    • Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations
    • Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, et al. (2003) Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 72(6): 1565-1570.
    • (2003) Am J Hum Genet , vol.72 , Issue.6 , pp. 1565-1570
    • Azuma, N.1    Yamaguchi, Y.2    Handa, H.3    Tadokoro, K.4    Asaka, A.5
  • 25
    • 0345270026 scopus 로고    scopus 로고
    • Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family
    • Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, et al. (2003) Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. Br J Ophthalmol 87(4): 411-412.
    • (2003) Br J Ophthalmol , vol.87 , Issue.4 , pp. 411-412
    • Jamieson, R.V.1    Munier, F.2    Balmer, A.3    Farrar, N.4    Perveen, R.5
  • 27
    • 4444239112 scopus 로고    scopus 로고
    • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    • Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, et al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9): 955-957.
    • (2004) Nat Genet , vol.36 , Issue.9 , pp. 955-957
    • Vissers, L.E.1    van Ravenswaaij, C.M.2    Admiraal, R.3    Hurst, J.A.4    de Vries, B.B.5
  • 29
    • 33846622730 scopus 로고    scopus 로고
    • GDF6, a novel locus for a spectrum of ocular developmental anomalies
    • Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, et al. (2007) GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet 80(2): 306-315.
    • (2007) Am J Hum Genet , vol.80 , Issue.2 , pp. 306-315
    • Asai-Coakwell, M.1    French, C.R.2    Berry, K.M.3    Ye, M.4    Koss, R.5
  • 30
    • 40749090053 scopus 로고    scopus 로고
    • Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways
    • Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, et al. (2008) Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82(2): 304-319.
    • (2008) Am J Hum Genet , vol.82 , Issue.2 , pp. 304-319
    • Bakrania, P.1    Efthymiou, M.2    Klein, J.C.3    Salt, A.4    Bunyan, D.J.5
  • 31
    • 43549125489 scopus 로고    scopus 로고
    • Novel SOX2 mutation associated with ocular coloboma in a Chinese family
    • Wang P, Liang X, Yi J, Zhang Q, (2008) Novel SOX2 mutation associated with ocular coloboma in a Chinese family. Arch Ophthalmol 126(5): 709-713.
    • (2008) Arch Ophthalmol , vol.126 , Issue.5 , pp. 709-713
    • Wang, P.1    Liang, X.2    Yi, J.3    Zhang, Q.4
  • 32
    • 84863314405 scopus 로고    scopus 로고
    • Case study of sequence capture enrichment technology: Identification of variation underpinning developmental syndromes in an amniote model
    • Robb EA, Delany ME, (2012) Case study of sequence capture enrichment technology: Identification of variation underpinning developmental syndromes in an amniote model. Genes 3: 233-247.
    • (2012) Genes , vol.3 , pp. 233-247
    • Robb, E.A.1    Delany, M.E.2
  • 33
    • 4644237189 scopus 로고    scopus 로고
    • Fast and effective prediction of microRNA/target duplexes
    • Rehmsmeier M, Steffen P, Höchsmann M, Giegerich R, (2004) Fast and effective prediction of microRNA/target duplexes. RNA 10: 1507-1517.
    • (2004) RNA , vol.10 , pp. 1507-1517
    • Rehmsmeier, M.1    Steffen, P.2    Höchsmann, M.3    Giegerich, R.4
  • 34
    • 11844278458 scopus 로고    scopus 로고
    • Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets
    • Lewis BP, Burge CB, Bartel DP, (2005) Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell 120(1): 15-20.
    • (2005) Cell , vol.120 , Issue.1 , pp. 15-20
    • Lewis, B.P.1    Burge, C.B.2    Bartel, D.P.3
  • 35
    • 34250805982 scopus 로고    scopus 로고
    • MicroRNA Targeting Specificity in Mammals: Determinants beyond Seed Pairing
    • Grimson A, Farh KK, Johnston WK, Garrett-Engele P, Lim LP, et al. (2007) MicroRNA Targeting Specificity in Mammals: Determinants beyond Seed Pairing. Mol Cell 27(1): 91-105.
    • (2007) Mol Cell , vol.27 , Issue.1 , pp. 91-105
    • Grimson, A.1    Farh, K.K.2    Johnston, W.K.3    Garrett-Engele, P.4    Lim, L.P.5
  • 37
    • 84924926133 scopus 로고
    • A series of normal stages in the development of the chick embryo
    • Hamburger V, Hamilton HL, (1951) A series of normal stages in the development of the chick embryo. J Morphol 88: 49-92.
    • (1951) J Morphol , vol.88 , pp. 49-92
    • Hamburger, V.1    Hamilton, H.L.2
  • 38
    • 0029692152 scopus 로고    scopus 로고
    • In situ hybridization analysis of chick embryos in whole mount and tissue sections
    • Nieto MA, Patel K, Wilkinson DG, (1996) In situ hybridization analysis of chick embryos in whole mount and tissue sections. Methods Cell Biol 51: 219-235.
    • (1996) Methods Cell Biol , vol.51 , pp. 219-235
    • Nieto, M.A.1    Patel, K.2    Wilkinson, D.G.3
  • 39
    • 34547642518 scopus 로고    scopus 로고
    • GEISHA: an in situ hybridization gene expression resource for the chicken embryo
    • Darnell DK, Kaur S, Stanislaw S, Davey S, Konieczka JH, et al. (2007) GEISHA: an in situ hybridization gene expression resource for the chicken embryo. Cytogenet Genome Res 117(1-4): 30-35.
    • (2007) Cytogenet Genome Res , vol.117 , Issue.1-4 , pp. 30-35
    • Darnell, D.K.1    Kaur, S.2    Stanislaw, S.3    Davey, S.4    Konieczka, J.H.5
  • 41
    • 61849153558 scopus 로고    scopus 로고
    • A high-density SNP-based linkage map of the chicken genome reveals sequence features correlated with recombination rate
    • Groenen MAM, Wahlberg P, Foglio M, Cheng HH, Megens HJ, et al. (2009) A high-density SNP-based linkage map of the chicken genome reveals sequence features correlated with recombination rate. Genome Res 19: 510-519.
    • (2009) Genome Res , vol.19 , pp. 510-519
    • Groenen, M.A.M.1    Wahlberg, P.2    Foglio, M.3    Cheng, H.H.4    Megens, H.J.5
  • 42
    • 3543051830 scopus 로고    scopus 로고
    • Mauve: multiple alignment of conserved genomic sequence with rearrangements
    • Darling ACE, Mau B, Blattner FR, Perna NT, (2004) Mauve: multiple alignment of conserved genomic sequence with rearrangements. Genome Res 14(7): 1394-1403.
    • (2004) Genome Res , vol.14 , Issue.7 , pp. 1394-1403
    • Darling, A.C.E.1    Mau, B.2    Blattner, F.R.3    Perna, N.T.4
  • 44
    • 10644271562 scopus 로고    scopus 로고
    • A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms
    • International Chicken Polymorphism Map Consortium
    • International Chicken Polymorphism Map Consortium, (2004) A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms. Nature 432: 717-722.
    • (2004) Nature , vol.432 , pp. 717-722
  • 45
    • 34547094391 scopus 로고    scopus 로고
    • The genomic landscape of short insertion and deletion polymorphisms in the chicken (Gallus gallus) genome: A high frequency of deletions in tandem duplicates
    • Brandström M, Ellegren H, (2007) The genomic landscape of short insertion and deletion polymorphisms in the chicken (Gallus gallus) genome: A high frequency of deletions in tandem duplicates. Genetics 176: 1691-1701.
    • (2007) Genetics , vol.176 , pp. 1691-1701
    • Brandström, M.1    Ellegren, H.2
  • 46
    • 34548244115 scopus 로고    scopus 로고
    • Gallus Expression In Situ Hybridization Analysis (GEISHA): A chicken Embryo Gene Expression Database
    • Antin PB, Kaur S, Stanislaw S, Davey S, Konieczka JH, et al. (2007) Gallus Expression In Situ Hybridization Analysis (GEISHA): A chicken Embryo Gene Expression Database. Poult Sci 86(7): 1472-1477.
    • (2007) Poult Sci , vol.86 , Issue.7 , pp. 1472-1477
    • Antin, P.B.1    Kaur, S.2    Stanislaw, S.3    Davey, S.4    Konieczka, J.H.5
  • 47
    • 1542378165 scopus 로고    scopus 로고
    • GEISHA, a whole-mount in situ hybridization gene expression screen in chicken embryos
    • Bell GW, Yatskievych TA, Antin PB, (2004) GEISHA, a whole-mount in situ hybridization gene expression screen in chicken embryos. Dev Dyn 229: 677-687.
    • (2004) Dev Dyn , vol.229 , pp. 677-687
    • Bell, G.W.1    Yatskievych, T.A.2    Antin, P.B.3
  • 48
    • 34248550634 scopus 로고    scopus 로고
    • Identification of zygotic genes expressed at the midblastula transition in zebrafish
    • O'Boyle S, Bree RT, McLoughlin S, Grealy M, Byrnes L, (2004) Identification of zygotic genes expressed at the midblastula transition in zebrafish. Biochem Biophys Res Commun 358(2): 462-468.
    • (2004) Biochem Biophys Res Commun , vol.358 , Issue.2 , pp. 462-468
    • O'Boyle, S.1    Bree, R.T.2    McLoughlin, S.3    Grealy, M.4    Byrnes, L.5
  • 50
    • 0035827305 scopus 로고    scopus 로고
    • The 14th Datta Lecture. TFIIH: from transcription to clinic
    • Egly JM, (2001) The 14th Datta Lecture. TFIIH: from transcription to clinic. FEBS Lett 498(2-3): 124-128.
    • (2001) FEBS Lett , vol.498 , Issue.2-3 , pp. 124-128
    • Egly, J.M.1
  • 51
    • 29244468847 scopus 로고    scopus 로고
    • Secrets of a double agent: CDK7 in cell-cycle control and transcription
    • Fisher RP, (2005) Secrets of a double agent: CDK7 in cell-cycle control and transcription. J Cell Sci 118(Pt 22): 5171-5180.
    • (2005) J Cell Sci , vol.118 , Issue.Pt 22 , pp. 5171-5180
    • Fisher, R.P.1
  • 52
    • 84861871242 scopus 로고    scopus 로고
    • Genetic inactivation of Cdk7 leads to cell cycle arrest and induces premature aging due to adult stem cell exhaustion
    • Ganuza M, Sáiz-Ladera C, Cañamero M, Gómez G, Schneider R, et al. (2012) Genetic inactivation of Cdk7 leads to cell cycle arrest and induces premature aging due to adult stem cell exhaustion. EMBO J 31(11): 2498-2510.
    • (2012) EMBO J , vol.31 , Issue.11 , pp. 2498-2510
    • Ganuza, M.1    Sáiz-Ladera, C.2    Cañamero, M.3    Gómez, G.4    Schneider, R.5
  • 53
    • 0032005801 scopus 로고    scopus 로고
    • Cdk7 is essential for mitosis and for in vivo Cdk-activating kinase activity
    • Larochelle S, Pandur J, Fisher RP, Salz HK, Suter B, (1998) Cdk7 is essential for mitosis and for in vivo Cdk-activating kinase activity. Genes Dev 12(3): 370-381.
    • (1998) Genes Dev , vol.12 , Issue.3 , pp. 370-381
    • Larochelle, S.1    Pandur, J.2    Fisher, R.P.3    Salz, H.K.4    Suter, B.5
  • 54
    • 33847130445 scopus 로고    scopus 로고
    • Developmental expression of cyclin H and Cdk7 in zebrafish: the essential role of cyclin H during early embryo development
    • Liu QY, Wu ZL, Lv WJ, Yan YC, Li YP, (2007) Developmental expression of cyclin H and Cdk7 in zebrafish: the essential role of cyclin H during early embryo development. Cell Res 17(2): 163-173.
    • (2007) Cell Res , vol.17 , Issue.2 , pp. 163-173
    • Liu, Q.Y.1    Wu, Z.L.2    Lv, W.J.3    Yan, Y.C.4    Li, Y.P.5
  • 55
    • 77956245653 scopus 로고    scopus 로고
    • Interruption of cenph causes mitotic failure and embryonic death and its haploinsufficiency suppresses cancer in zebrafish
    • Zhao X, Zhao L, Tian T, Zhang Y, Tong J, et al. (2010) Interruption of cenph causes mitotic failure and embryonic death and its haploinsufficiency suppresses cancer in zebrafish. J Biol Chem 285(36): 27924-27934.
    • (2010) J Biol Chem , vol.285 , Issue.36 , pp. 27924-27934
    • Zhao, X.1    Zhao, L.2    Tian, T.3    Zhang, Y.4    Tong, J.5
  • 56
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, et al. (2008) Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40(12): 1466-1471.
    • (2008) Nat Genet , vol.40 , Issue.12 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3    Belmont, J.4    Bacino, C.A.5
  • 57
    • 76549100511 scopus 로고    scopus 로고
    • Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution
    • Carvalho CM, Zhang F, Lupski JR, (2010) Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci USA 107Suppl 1: 1765-1771.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 1765-1771
    • Carvalho, C.M.1    Zhang, F.2    Lupski, J.R.3
  • 59
    • 84859419056 scopus 로고    scopus 로고
    • Role of copy number variants in structural birth defects
    • Southard AE, Edelmann LJ, Gelb BD, (2012) Role of copy number variants in structural birth defects. Pediatrics 129(4): 755-763.
    • (2012) Pediatrics , vol.129 , Issue.4 , pp. 755-763
    • Southard, A.E.1    Edelmann, L.J.2    Gelb, B.D.3
  • 60
    • 8444222330 scopus 로고    scopus 로고
    • Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome
    • Yan J, Keener VW, Bi W, Walz K, Bradley A, et al. (2004) Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet 13(21): 2613-2624.
    • (2004) Hum Mol Genet , vol.13 , Issue.21 , pp. 2613-2624
    • Yan, J.1    Keener, V.W.2    Bi, W.3    Walz, K.4    Bradley, A.5
  • 61
    • 77955177010 scopus 로고    scopus 로고
    • Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition
    • Bellott DW, Skaletsky H, Pyntikova T, Mardis ER, Graves T, et al. (2010) Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition. Nature 466: 612-616.
    • (2010) Nature , vol.466 , pp. 612-616
    • Bellott, D.W.1    Skaletsky, H.2    Pyntikova, T.3    Mardis, E.R.4    Graves, T.5
  • 62
    • 0037151036 scopus 로고    scopus 로고
    • A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane
    • Cragg RA, Christie GR, Phillips SR, Russi RM, Küry S, et al. (2002) A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane. J Biol Chem 277: 22789-22797.
    • (2002) J Biol Chem , vol.277 , pp. 22789-22797
    • Cragg, R.A.1    Christie, G.R.2    Phillips, S.R.3    Russi, R.M.4    Küry, S.5
  • 63
    • 0037166325 scopus 로고    scopus 로고
    • Cloning and characterization of a novel mammalian zinc transporter, zinc transporter 5, abundantly expressed in pancreatic beta cells
    • Kambe T, Narita H, Yamaguchi-Iwai Y, Hirose J, Amano T, et al. (2002) Cloning and characterization of a novel mammalian zinc transporter, zinc transporter 5, abundantly expressed in pancreatic beta cells. J Biol Chem 277: 19049-19055.
    • (2002) J Biol Chem , vol.277 , pp. 19049-19055
    • Kambe, T.1    Narita, H.2    Yamaguchi-Iwai, Y.3    Hirose, J.4    Amano, T.5
  • 64
    • 1242295160 scopus 로고    scopus 로고
    • Efflux and compartmentalization of zinc by members of the SLC30 family of solute carriers
    • Palmiter RD, Huang L, (2004) Efflux and compartmentalization of zinc by members of the SLC30 family of solute carriers. Pflug Arch Eur J Phy 447(5): 744-751.
    • (2004) Pflug Arch Eur J Phy , vol.447 , Issue.5 , pp. 744-751
    • Palmiter, R.D.1    Huang, L.2
  • 65
    • 3242676985 scopus 로고    scopus 로고
    • Differential regulation of zinc efflux transporters ZnT-1, ZnT-5 and ZnT-7 gene expression by zinc levels: a real-time RT-PCR study
    • Devergnas S, Chimienti F, Naud N, Pennequin A, Coquerel Y, et al. (2004) Differential regulation of zinc efflux transporters ZnT-1, ZnT-5 and ZnT-7 gene expression by zinc levels: a real-time RT-PCR study. Biochem Pharmacol 68: 699-709.
    • (2004) Biochem Pharmacol , vol.68 , pp. 699-709
    • Devergnas, S.1    Chimienti, F.2    Naud, N.3    Pennequin, A.4    Coquerel, Y.5
  • 66
    • 24744456569 scopus 로고    scopus 로고
    • Two different zinc transport complexes of cation diffusion facilitator proteins localized in the secretory pathway operate to activate alkaline phosphatases in vertebrate cells
    • Suzuki T, Ishihara K, Migaki H, Ishihara K, Nagao M, et al. (2005) Two different zinc transport complexes of cation diffusion facilitator proteins localized in the secretory pathway operate to activate alkaline phosphatases in vertebrate cells. J Biol Chem 280: 30956-30962.
    • (2005) J Biol Chem , vol.280 , pp. 30956-30962
    • Suzuki, T.1    Ishihara, K.2    Migaki, H.3    Ishihara, K.4    Nagao, M.5
  • 67
    • 12844265345 scopus 로고    scopus 로고
    • Zinc transporters, ZnT5 and ZnT7, are required for the activation of alkaline phosphatases, zinc-requiring enzymes that are glycosylphosphatidylinositol-anchored to the cytoplasmic membrane
    • Suzuki T, Ishihara K, Migaki H, Matsuura W, Kohda A, et al. (2005) Zinc transporters, ZnT5 and ZnT7, are required for the activation of alkaline phosphatases, zinc-requiring enzymes that are glycosylphosphatidylinositol-anchored to the cytoplasmic membrane. J Biol Chem 280: 637-643.
    • (2005) J Biol Chem , vol.280 , pp. 637-643
    • Suzuki, T.1    Ishihara, K.2    Migaki, H.3    Matsuura, W.4    Kohda, A.5
  • 68
    • 67449168402 scopus 로고    scopus 로고
    • Zinc transporter Znt5/Slc30a5 is required for the mast cell-mediated delayed-type allergic reaction but not the immediate-type reaction
    • Nishida K, Hasegawa A, Nakae S, Oboki K, Saito H, et al. (2009) Zinc transporter Znt5/Slc30a5 is required for the mast cell-mediated delayed-type allergic reaction but not the immediate-type reaction. J Expt Medicine 206(6): 1351-1364.
    • (2009) J Expt Medicine , vol.206 , Issue.6 , pp. 1351-1364
    • Nishida, K.1    Hasegawa, A.2    Nakae, S.3    Oboki, K.4    Saito, H.5
  • 69
    • 0033600872 scopus 로고    scopus 로고
    • Characterization of a novel kinetochore protein, CENP-H
    • Sugata N, Munekata E, Todokoro K, (1999) Characterization of a novel kinetochore protein, CENP-H. J Biol Chem 274(39): 27343-27346.
    • (1999) J Biol Chem , vol.274 , Issue.39 , pp. 27343-27346
    • Sugata, N.1    Munekata, E.2    Todokoro, K.3
  • 70
    • 17944382377 scopus 로고    scopus 로고
    • CENP-H, a constitutive centromere component, is required for centromere targeting of CENP-C in vertebrate cells
    • Fukagawa T, Mikami Y, Nishihashi A, Regnier V, Haraguchi T, et al. (2001) CENP-H, a constitutive centromere component, is required for centromere targeting of CENP-C in vertebrate cells. The EMBO Journal 20(16): 4603-4617.
    • (2001) The EMBO Journal , vol.20 , Issue.16 , pp. 4603-4617
    • Fukagawa, T.1    Mikami, Y.2    Nishihashi, A.3    Regnier, V.4    Haraguchi, T.5
  • 71
    • 0035380711 scopus 로고    scopus 로고
    • The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present
    • Cavdar Koc E, Burkhart W, Blackburn K, Moseley A, Spremulli LL, (2001) The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present. J Biol Chem 276: 19363-19374.
    • (2001) J Biol Chem , vol.276 , pp. 19363-19374
    • Cavdar Koc, E.1    Burkhart, W.2    Blackburn, K.3    Moseley, A.4    Spremulli, L.L.5
  • 72
    • 0029418115 scopus 로고
    • The regulation and functions of cdk7
    • Shuttleworth J, (1995) The regulation and functions of cdk7. Prog Cell Cycle Res 1: 229-240.
    • (1995) Prog Cell Cycle Res , vol.1 , pp. 229-240
    • Shuttleworth, J.1
  • 73
    • 33947424005 scopus 로고    scopus 로고
    • Requirements for Cdk7 in the assembly of Cdk1/cyclin B and activation of Cdk2 revealed by chemical genetics in human cells
    • Larochelle S, Merrick KA, Terret ME, Wohlbold L, Barboza NM, et al. (2007) Requirements for Cdk7 in the assembly of Cdk1/cyclin B and activation of Cdk2 revealed by chemical genetics in human cells. Mol Cell 25: 839-850.
    • (2007) Mol Cell , vol.25 , pp. 839-850
    • Larochelle, S.1    Merrick, K.A.2    Terret, M.E.3    Wohlbold, L.4    Barboza, N.M.5
  • 74
    • 34248583324 scopus 로고    scopus 로고
    • Recognition of Cdk2 by Cdk7
    • Lolli G, Johnson LN, (2007) Recognition of Cdk2 by Cdk7. Proteins 67: 1048-1059.
    • (2007) Proteins , vol.67 , pp. 1048-1059
    • Lolli, G.1    Johnson, L.N.2
  • 75
    • 62549094029 scopus 로고    scopus 로고
    • Binding to DNA of the RNA-polymerase II C-terminal domain allows discrimination between Cdk7 and Cdk9 phosphorylation
    • Lolli G, (2009) Binding to DNA of the RNA-polymerase II C-terminal domain allows discrimination between Cdk7 and Cdk9 phosphorylation. Nucleic Acids Res 37: 1260-1268.
    • (2009) Nucleic Acids Res , vol.37 , pp. 1260-1268
    • Lolli, G.1
  • 76
    • 0037098959 scopus 로고    scopus 로고
    • Osteopenia and male-specific sudden cardiac death in mice lacking a zinc transporter gene, Znt5
    • Inoue K, Matsuda K, Itoh M, Kawaguchi H, Tomoike H, et al. (2002) Osteopenia and male-specific sudden cardiac death in mice lacking a zinc transporter gene, Znt5. Hum Mol Genet 11(15): 1775-1784.
    • (2002) Hum Mol Genet , vol.11 , Issue.15 , pp. 1775-1784
    • Inoue, K.1    Matsuda, K.2    Itoh, M.3    Kawaguchi, H.4    Tomoike, H.5
  • 77
    • 52249087993 scopus 로고    scopus 로고
    • Prognostic relevance of Centromere protein H expression in esophageal carcinoma
    • Guo XZ, Zhang G, Wang JY, Liu WL, Wang F, et al. (2008) Prognostic relevance of Centromere protein H expression in esophageal carcinoma. BMC Cancer 8: 233.
    • (2008) BMC Cancer , vol.8 , pp. 233
    • Guo, X.Z.1    Zhang, G.2    Wang, J.Y.3    Liu, W.L.4    Wang, F.5
  • 78
    • 33846892784 scopus 로고    scopus 로고
    • Centromere protein H is a novel prognostic marker for nasopharyngeal carcinoma progression and overall patient survival
    • Liao WT, Song LB, Zhang HZ, Zhang X, Zhang L, et al. (2007) Centromere protein H is a novel prognostic marker for nasopharyngeal carcinoma progression and overall patient survival. Clin Cancer Res 13(2 Pt 1): 508-514.
    • (2007) Clin Cancer Res , vol.13 , Issue.2 Pt 1 , pp. 508-514
    • Liao, W.T.1    Song, L.B.2    Zhang, H.Z.3    Zhang, X.4    Zhang, L.5
  • 79
    • 78651275599 scopus 로고    scopus 로고
    • T1DBase: update 2011, organization and presentation of large-scale data sets for type 1 diabetes research
    • (Database issue)
    • Burren OS, Adlem EC, Achuthan P, Christensen M, Coulson RM, et al. (2011) T1DBase: update 2011, organization and presentation of large-scale data sets for type 1 diabetes research. Nucleic Acids Res 39(Database issue): D997-1001.
    • (2011) Nucleic Acids Res , vol.39 , pp. 997-1001
    • Burren, O.S.1    Adlem, E.C.2    Achuthan, P.3    Christensen, M.4    Coulson, R.M.5
  • 80
    • 0033636620 scopus 로고    scopus 로고
    • Neuronal CDK7 in hippocampus is related to aging and Alzheimer disease
    • Zhu X, Rottkamp CA, Raina AK, Brewer GJ, Ghanbari HA, et al. (2000) Neuronal CDK7 in hippocampus is related to aging and Alzheimer disease. Neurobiol Aging 21(6): 807-813.
    • (2000) Neurobiol Aging , vol.21 , Issue.6 , pp. 807-813
    • Zhu, X.1    Rottkamp, C.A.2    Raina, A.K.3    Brewer, G.J.4    Ghanbari, H.A.5


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