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Volumn 63, Issue 5, 1998, Pages 1316-1328

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

(20)  Mears, Alan J a   Jordan, Tim b   Mirzayans, Farideh a   Dubois, Stéphane c   Kume, Tsutomu d   Parlee, Michael e   Ritch, Robert f   Koop, Benjamin e   Kuo, Wen Lin g   Collins, Colin h   Marshall, Jody a   Gould, Douglas B a   Pearce, William a   Carlsson, Peter i   Enerbäck, Sven i   Morissette, Jean c   Bhattacharya, Shomi b   Hogan, Brigid d   Raymond, Vincent c   Walter, Michael A a  


Author keywords

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EID: 0032231330     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302109     Document Type: Article
Times cited : (292)

References (51)
  • 1
    • 0028801419 scopus 로고
    • Partial deletionl of chromosome 6p: Autopsy findings in a premature infant and review of the literature
    • Alashari M, Chen E, Poskanzer L (1995) Partial deletionl of chromosome 6p: autopsy findings in a premature infant and review of the literature. Pediatr Pathol Lab Med 15:941-947
    • (1995) Pediatr Pathol Lab Med , vol.15 , pp. 941-947
    • Alashari, M.1    Chen, E.2    Poskanzer, L.3
  • 2
    • 0028169992 scopus 로고
    • HNF-3 beta is essential for node and notochord formation in mouse development
    • Ang SL, Rossant J (1994) HNF-3 beta is essential for node and notochord formation in mouse development. Cell 78:561-5744
    • (1994) Cell , vol.78 , pp. 561-5744
    • Ang, S.L.1    Rossant, J.2
  • 3
    • 0009252517 scopus 로고
    • Erbliches jugendliches Glaukom
    • Berg F (1932) Erbliches jugendliches Glaukom. Acta Ophthal 10:568-587
    • (1932) Acta Ophthal , vol.10 , pp. 568-587
    • Berg, F.1
  • 4
    • 0027270989 scopus 로고
    • Co-crystal struc ture of the HNF-3/fork head DNA-recognition motif resembles histone H5
    • Clark KL, Halay ED, Lai E, Burley SK (1993) Co-crystal struc ture of the HNF-3/fork head DNA-recognition motif resembles histone H5. Nature 364:412-420
    • (1993) Nature , vol.364 , pp. 412-420
    • Clark, K.L.1    Halay, E.D.2    Lai, E.3    Burley, S.K.4
  • 5
    • 0027322128 scopus 로고
    • Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family
    • Clevidence DE, Overdier DG, Tao W, Qian X, Pani L, Lai E, Costa RH (1993) Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family. Proc Natl Acad Sci USA 90:3948-3952
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 3948-3952
    • Clevidence, D.E.1    Overdier, D.G.2    Tao, W.3    Qian, X.4    Pani, L.5    Lai, E.6    Costa, R.H.7
  • 7
    • 0026949405 scopus 로고
    • Genomic structure, evolutionary conservation and aniridia mutations in the human pax6 gene
    • Glaser T, Walton DS, Maas RL (1992) Genomic structure, evolutionary conservation and aniridia mutations in the human pax6 gene. Nat Genet 2:232-239
    • (1992) Nat Genet , vol.2 , pp. 232-239
    • Glaser, T.1    Walton, D.S.2    Maas, R.L.3
  • 9
    • 0031440028 scopus 로고    scopus 로고
    • Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel
    • Graff C, Jerndal T, Wadelius C (1997) Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel. Hum Genet 101:130-134
    • (1997) Hum Genet , vol.101 , pp. 130-134
    • Graff, C.1    Jerndal, T.2    Wadelius, C.3
  • 11
    • 0030219917 scopus 로고    scopus 로고
    • Control of gut development by fork head and cell signaling molecules in Drosophila
    • Hoch M, Pankratz MJ (1996) Control of gut development by fork head and cell signaling molecules in Drosophila. Mech Dev 58:3-14
    • (1996) Mech Dev , vol.58 , pp. 3-14
    • Hoch, M.1    Pankratz, M.J.2
  • 12
    • 0015370637 scopus 로고
    • Dominant goniodysgenesis with late congenital glaucoma: A re-examination of Berg's pedigree
    • Jerndal T (1972) Dominant goniodysgenesis with late congenital glaucoma: a re-examination of Berg's pedigree. Am J Ophthalmol 74:28-33
    • (1972) Am J Ophthalmol , vol.74 , pp. 28-33
    • Jerndal, T.1
  • 13
    • 0030870983 scopus 로고    scopus 로고
    • Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly
    • Jordan T, Ebenezer N, Manners R, McGill J, Bhattacharya S (1997) Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet 61:882-888
    • (1997) Am J Hum Genet , vol.61 , pp. 882-888
    • Jordan, T.1    Ebenezer, N.2    Manners, R.3    McGill, J.4    Bhattacharya, S.5
  • 15
    • 0024390884 scopus 로고
    • Neural crest origin of trabecular meshwork and other structures of the anterior chamber
    • Kaiser-Kupfer MI (1989) Neural crest origin of trabecular meshwork and other structures of the anterior chamber. Am J Ophthalmol 107:671-673
    • (1989) Am J Ophthalmol , vol.107 , pp. 671-673
    • Kaiser-Kupfer, M.I.1
  • 16
    • 17344379513 scopus 로고    scopus 로고
    • Five years on the wings of fork head
    • Kaufmann E, Knochel W (1996) Five years on the wings of fork head. Mech Dev 57:3-20
    • (1996) Mech Dev , vol.57 , pp. 3-20
    • Kaufmann, E.1    Knochel, W.2
  • 17
  • 18
    • 0032511231 scopus 로고    scopus 로고
    • The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus
    • Kume T, Deng K-Y, Winfrey V, Gould DB, Walter MA, Hogan BLM (1998) The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell 93:985-996
    • (1998) Cell , vol.93 , pp. 985-996
    • Kume, T.1    Deng, K.-Y.2    Winfrey, V.3    Gould, D.B.4    Walter, M.A.5    Hogan, B.L.M.6
  • 19
    • 0029572447 scopus 로고
    • Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)
    • Larsson C, Hellqvist M, Pierrou S, White I, Enerbäck S, Carlsson P (1995) Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). Genomics 30:464-469
    • (1995) Genomics , vol.30 , pp. 464-469
    • Larsson, C.1    Hellqvist, M.2    Pierrou, S.3    White, I.4    Enerbäck, S.5    Carlsson, P.6
  • 21
    • 0027133451 scopus 로고
    • DNA-binding properties and second- Ary structure model of the hepatocyte nuclear factor 3/fork head domain
    • Li C, Tucker PW (1993) DNA-binding properties and second- ary structure model of the hepatocyte nuclear factor 3/fork head domain. Proc Natl Acad Sci USA 90:11583-11587
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 11583-11587
    • Li, C.1    Tucker, P.W.2
  • 22
    • 0027173427 scopus 로고
    • The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head
    • Li J, Vogt PK (1993) The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head. Proc Natl Acad Sci USA 90:4490-4494
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4490-4494
    • Li, J.1    Vogt, P.K.2
  • 24
    • 0030751457 scopus 로고    scopus 로고
    • Isolation of the chromosomal region containing the iridogoniodsygenesis anomaly locus by genomic mismatch scanning
    • Mirzayans F, Mears AJ, Gou S-W, Pearce WG, Walter MA (1997) Isolation of the chromosomal region containing the iridogoniodsygenesis anomaly locus by genomic mismatch scanning. Am J Hum Genet 61:111-119
    • (1997) Am J Hum Genet , vol.61 , pp. 111-119
    • Mirzayans, F.1    Mears, A.J.2    Gou, S.-W.3    Pearce, W.G.4    Walter, M.A.5
  • 26
    • 0028000121 scopus 로고
    • New member of the winged-helix protien family disrupted in mouse and rat nude mutations
    • Nehls M, Pfeifer D, Schorpp M, Hedrich H, Boehm T (1994) New member of the winged-helix protien family disrupted in mouse and rat nude mutations. Nature 372:103-107
    • (1994) Nature , vol.372 , pp. 103-107
    • Nehls, M.1    Pfeifer, D.2    Schorpp, M.3    Hedrich, H.4    Boehm, T.5
  • 27
    • 0002935093 scopus 로고
    • Glucocorticoid effects on HTM cells: Molecular biology approaches
    • Lütjen-Drecoll E (ed). Schattauer & Stuggart, New York
    • Nguyen TD, Huang W, Bloom E, Polansky JR (1993) Glucocorticoid effects on HTM cells: molecular biology approaches. In: Lütjen-Drecoll E (ed) Basic aspects of glaucoma research. Vol 3. Schattauer & Stuggart, New York, pp 331-343
    • (1993) Basic Aspects of Glaucoma Research , vol.3 , pp. 331-343
    • Nguyen, T.D.1    Huang, W.2    Bloom, E.3    Polansky, J.R.4
  • 28
  • 30
    • 0027959091 scopus 로고
    • Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family
    • Parry P, Wei Y, Evans G (1994) Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family. Genes Chromosom Cancer 11:79-84
    • (1994) Genes Chromosom Cancer , vol.11 , pp. 79-84
    • Parry, P.1    Wei, Y.2    Evans, G.3
  • 34
    • 0028046675 scopus 로고
    • Cloning and characterization of seven human forkhead proteins: Binding site specificity and DNA bending
    • Pierrou S, Hellqvist M, Samuelsson L, Enerback S, Carlsson P (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. EMBO J 13:5002-5012
    • (1994) EMBO J , vol.13 , pp. 5002-5012
    • Pierrou, S.1    Hellqvist, M.2    Samuelsson, L.3    Enerback, S.4    Carlsson, P.5
  • 35
    • 0028920898 scopus 로고
    • Analysis of hepatocyte nuclear factor-3β protein domains required for transcriptional activation and nuclear targeting
    • Qian X, Costa RH (1995) Analysis of hepatocyte nuclear factor-3β protein domains required for transcriptional activation and nuclear targeting. Nucleic Acids Res 23:1184-1191
    • (1995) Nucleic Acids Res , vol.23 , pp. 1184-1191
    • Qian, X.1    Costa, R.H.2
  • 36
    • 0029980777 scopus 로고    scopus 로고
    • Number of people with glaucoma world-wide
    • Quigley HA (1996) Number of people with glaucoma world-wide. Br J Ophthalmol 80:389-393
    • (1996) Br J Ophthalmol , vol.80 , pp. 389-393
    • Quigley, H.A.1
  • 37
    • 0031026621 scopus 로고    scopus 로고
    • Molecular genetics of glaucomas: Mapping of the first five "GLC" loci
    • Raymond V ( 1997) Molecular genetics of glaucomas: mapping of the first five "GLC" loci. Am J Hum Genet 60:272-277
    • (1997) Am J Hum Genet , vol.60 , pp. 272-277
    • Raymond, V.1
  • 38
    • 0005203108 scopus 로고
    • Monosomy for distal segment 6p: Clinical description and use in localizing a region important for expression of Hageman factor
    • Reid CS, Stamberg J, Phillips JA (1983) Monosomy for distal segment 6p: clinical description and use in localizing a region important for expression of Hageman factor. Pediatr Res Suppl 17:217A
    • (1983) Pediatr Res Suppl , vol.17
    • Reid, C.S.1    Stamberg, J.2    Phillips, J.A.3
  • 39
    • 0028875032 scopus 로고
    • Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut
    • Roberts DJ, Johnson RL, Burke AC, Nelson CE, Morgan BA, Tabin C (1995) Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut. Development 121:3163-3174
    • (1995) Development , vol.121 , pp. 3163-3174
    • Roberts, D.J.1    Johnson, R.L.2    Burke, A.C.3    Nelson, C.E.4    Morgan, B.A.5    Tabin, C.6
  • 40
    • 0028880039 scopus 로고
    • Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity
    • Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum HM, Chevrette L, et al (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30:171-177
    • (1995) Genomics , vol.30 , pp. 171-177
    • Sarfarazi, M.1    Akarsu, A.N.2    Hossain, A.3    Turacli, M.E.4    Aktan, S.G.5    Barsoum, H.M.6    Chevrette, L.7
  • 41
    • 0028178788 scopus 로고
    • Hnf-3-beta as a regulator of floor plate development
    • Sasaki H, Hogan B (1994) Hnf-3-beta as a regulator of floor plate development. Cell 76:103-115
    • (1994) Cell , vol.76 , pp. 103-115
    • Sasaki, H.1    Hogan, B.2
  • 42
    • 10544233785 scopus 로고    scopus 로고
    • Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
    • Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel BJ, et al (1996) Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14:392-399
    • (1996) Nat Genet , vol.14 , pp. 392-399
    • Semina, E.V.1    Reiter, R.2    Leysens, N.J.3    Alward, W.L.4    Small, K.W.5    Datson, N.A.6    Siegel, B.J.7
  • 43
    • 0027366917 scopus 로고
    • Fusion of pax3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma
    • Shapiro DN, Sublett JE, Li BT, Downing JR, Naeve CW (1993) Fusion of pax3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. Cancer Res 53:5108-5112
    • (1993) Cancer Res , vol.53 , pp. 5108-5112
    • Shapiro, D.N.1    Sublett, J.E.2    Li, B.T.3    Downing, J.R.4    Naeve, C.W.5
  • 45
    • 0026703169 scopus 로고
    • Cloning and stable maintenance of 300kilobase-pair fragments of human DNA in Escherichia coli using an F-factor based vector
    • Shizuya H, Birren B, Kim U-J, Mancino V, Slepak T, Tachiirfi Y, Simon M (1992) Cloning and stable maintenance of 300kilobase-pair fragments of human DNA in Escherichia coli using an F-factor based vector. Proc Natl Acad Sci USA 89; 8794-8797
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 8794-8797
    • Shizuya, H.1    Birren, B.2    Kim, U.-J.3    Mancino, V.4    Slepak, T.5    Tachiirfi, Y.6    Simon, M.7
  • 46
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • Stoilov I, Akarsu AN, Sarfarazi M (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 6:641-647
    • (1997) Hum Mol Genet , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 48
    • 0014545493 scopus 로고
    • Familial hypoplasia of the iris stroma associated with glaucoma
    • Weatherill JR, Hart CT (1969) Familial hypoplasia of the iris stroma associated with glaucoma. Br J Ophthalmol 53:433-438
    • (1969) Br J Ophthalmol , vol.53 , pp. 433-438
    • Weatherill, J.R.1    Hart, C.T.2
  • 49
    • 0024973841 scopus 로고
    • The homeotic gene fork head encodes a nucelar protein and is expressed in the terminal regions of the Drosophila embryo
    • Weigel D, Jurgens G, Kuttner F, Seifert E, Jackle H (1989) The homeotic gene fork head encodes a nucelar protein and is expressed in the terminal regions of the Drosophila embryo. Cell 57:645-658
    • (1989) Cell , vol.57 , pp. 645-658
    • Weigel, D.1    Jurgens, G.2    Kuttner, F.3    Seifert, E.4    Jackle, H.5
  • 50
    • 0028025566 scopus 로고
    • The winged-helix tranfscription factor HNF-3β is required for notochord development in the mouse embryo
    • Weinstein DC, Ruiz I, Altaba A, Chen WS, Hoodless P, Prezioso VR, Jessell TM, et al (1994) The winged-helix tranfscription factor HNF-3β is required for notochord development in the mouse embryo. Cell 78:575-588
    • (1994) Cell , vol.78 , pp. 575-588
    • Weinstein, D.C.1    Ruiz, I.2    Altaba, A.3    Chen, W.S.4    Hoodless, P.5    Prezioso, V.R.6    Jessell, T.M.7
  • 51
    • 0025058418 scopus 로고
    • Distal deletion of the short arm of chromosome 6
    • Zurcher VL, Golden WL, Zinn AB (1990) Distal deletion of the short arm of chromosome 6. Am J Med Genet 35:261-265
    • (1990) Am J Med Genet , vol.35 , pp. 261-265
    • Zurcher, V.L.1    Golden, W.L.2    Zinn, A.B.3


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