-
3
-
-
34548417177
-
PAX6 and SOX2-dependent regulation of the Sox2 enhancer N-3 involved in embryonic visual system development
-
Inoue M, Kamachi Y, Matsunami H, et al. PAX6 and SOX2-dependent regulation of the Sox2 enhancer N-3 involved in embryonic visual system development, Genes Cells 2007;12(9):1049-1061
-
(2007)
Genes Cells
, vol.12
, Issue.9
, pp. 1049-1061
-
-
Inoue, M.1
Kamachi, Y.2
Matsunami, H.3
-
4
-
-
0035815295
-
Pax6 is required for the multipotent state of retinal progenitor cells
-
Marquardt T, Ashery-Padan R, Andrejewski N, et al. Pax6 is required for the multipotent state of retinal progenitor cells, Cell 2001;105(1):43-55
-
(2001)
Cell
, vol.105
, Issue.1
, pp. 43-55
-
-
Marquardt, T.1
Ashery-Padan, R.2
Andrejewski, N.3
-
5
-
-
0035873448
-
Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development
-
Kamachi Y, Uchikawa M, Tanouchi A, Sekido R, Kondoh H Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development, Genes Dev 2001;15(10):1272-1286
-
(2001)
Genes Dev
, vol.15
, Issue.10
, pp. 1272-1286
-
-
Kamachi, Y.1
Uchikawa, M.2
Tanouchi, A.3
Sekido, R.4
Kondoh, H.5
-
6
-
-
55449128397
-
O'Keefe M Aniridia: Current pathology and management
-
Lee H, Khan R, O'Keefe M Aniridia: current pathology and management, Acta Ophthalmol 2008;86(7):708-715
-
(2008)
Acta Ophthalmol
, vol.86
, Issue.7
, pp. 708-715
-
-
Lee, H.1
Khan, R.2
-
7
-
-
0034938449
-
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
-
Sisodiya SM, Free SL, Williamson KA, et al. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans, Nat Genet 2001;28(3):214-216
-
(2001)
Nat Genet
, vol.28
, Issue.3
, pp. 214-216
-
-
Sisodiya, S.M.1
Free, S.L.2
Williamson, K.A.3
-
8
-
-
0037739999
-
Polymicrogyria and absence of pineal gland due to PAX6 mutation
-
Mitchell TN, Free SL, Williamson KA, et al. Polymicrogyria and absence of pineal gland due to PAX6 mutation, Ann Neurol 2003;53(5):658-663
-
(2003)
Ann Neurol
, vol.53
, Issue.5
, pp. 658-663
-
-
Mitchell, T.N.1
Free, S.L.2
Williamson, K.A.3
-
9
-
-
0035697310
-
Molecular characterization of Pax6(2Neu) through Pax6(10Neu): An extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse
-
Favor J, Peters H, Hermann T, et al. Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse, Mus musculus Genetics 2001;159(4):1689-1700
-
(2001)
Mus Musculus Genetics
, vol.159
, Issue.4
, pp. 1689-1700
-
-
Favor, J.1
Peters, H.2
Hermann, T.3
-
11
-
-
25444528475
-
Hanson IM PAX6 mutations: Genotype-phenotype correlations
-
Tzoulaki I, White IM, Hanson IM PAX6 mutations: genotype-phenotype correlations, BMC Genet 2005;6(1):27
-
(2005)
BMC Genet
, vol.6
, Issue.1
, pp. 27
-
-
Tzoulaki, I.1
White, I.M.2
-
12
-
-
33644789122
-
Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different con-sequences at target promoters
-
Graw J, Loster J, Puk O, et al. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different con-sequences at target promoters, Invest Ophthalmol Vis Sci 2005; 46(12):4671-4683
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, Issue.12
, pp. 4671-4683
-
-
Graw, J.1
Loster, J.2
Puk, O.3
-
13
-
-
33749057696
-
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
-
Khajavi M, Inoue K, Lupski JR Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease, Eur J Hum Genet 2006;14(10):1074-1081
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.10
, pp. 1074-1081
-
-
Khajavi, M.1
Inoue, K.2
Lupski, J.R.3
-
14
-
-
52049122795
-
Relationship of Pax6 activity levels to the extent of eye development in the mouse
-
Favor J, Gloeckner CJ, Neuhaeuser-Klaus A, et al. Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus Genetics 2008;179(3):1345-1355
-
(2008)
Mus Musculus Genetics
, vol.179
, Issue.3
, pp. 1345-1355
-
-
Favor, J.1
Gloeckner, C.J.2
Neuhaeuser-Klaus, A.3
-
15
-
-
0026315044
-
Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region
-
Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region, Cell 1991;67(6):1059-1074
-
(1991)
Cell
, vol.67
, Issue.6
, pp. 1059-1074
-
-
Ton, C.C.1
Hirvonen, H.2
Miwa, H.3
-
16
-
-
0032555505
-
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants
-
Singh S, Tang HK, Lee JY, Saunders GF Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants, J Biol Chem 1998;273(34):21531-21541
-
(1998)
J Biol Chem
, vol.273
, Issue.34
, pp. 21531-21541
-
-
Singh, S.1
Tang, H.K.2
Lee, J.Y.3
Saunders, G.F.4
-
17
-
-
0033952632
-
Truncated forms of Pax-6 disrupt lens morphology in transgenic mice
-
Duncan MK, Cvekl A, Li X, Piatigorsky J Truncated forms of Pax-6 disrupt lens morphology in transgenic mice, Invest Ophthalmol Vis Sci 2000;41(2):464-473
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, Issue.2
, pp. 464-473
-
-
Duncan, M.K.1
Cvekl, A.2
Li, X.3
Piatigorsky, J.4
-
18
-
-
0028308664
-
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including
-
Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including, Peters' anomaly Nat Genet 1994;6(2):168-173
-
(1994)
Peters' Anomaly Nat Genet
, vol.6
, Issue.2
, pp. 168-173
-
-
Hanson, I.M.1
Fletcher, J.M.2
Jordan, T.3
-
19
-
-
0030162151
-
PAX6 missense mutation in isolated foveal hypoplasia
-
Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M PAX6 missense mutation in isolated foveal hypoplasia, Nat Genet 1996; 13(2):141-142
-
(1996)
Nat Genet
, vol.13
, Issue.2
, pp. 141-142
-
-
Azuma, N.1
Nishina, S.2
Yanagisawa, H.3
Okuyama, T.4
Yamada, M.5
-
20
-
-
0032899711
-
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, et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations, Hum Mol Genet 1999;8(2): 165-172
-
(1999)
Hum Mol Genet
, vol.8
, Issue.2
, pp. 165-172
-
-
Hanson, I.1
Churchill, A.2
Love, J.3
-
21
-
-
0038353669
-
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations
-
Azuma N, Yamaguchi Y, Handa H, et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations, Am J Hum Genet 2003;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
-
22
-
-
49149126979
-
Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes
-
Sharan S, Mirzayans F, Footz T, Walter M, Levin AV Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes, J AAPOS 2008;12(4):340-343
-
(2008)
J AAPOS
, vol.12
, Issue.4
, pp. 340-343
-
-
Sharan, S.1
Mirzayans, F.2
Footz, T.3
Walter, M.4
Levin, A.V.5
-
23
-
-
0031059181
-
Functional analysis of paired box missense mutations in the PAX6 gene
-
Tang HK, Chao LY, Saunders GF Functional analysis of paired box missense mutations in the PAX6 gene, Hum Mol Genet 1997;6(3): 381-386
-
(1997)
Hum Mol Genet
, vol.6
, Issue.3
, pp. 381-386
-
-
Tang, H.K.1
Chao, L.Y.2
Saunders, G.F.3
-
24
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
Ragge NK, Brown AG, Poloschek CM, et al. Heterozygous mutations of OTX2 cause severe ocular malformations, Am J Hum Genet 2005;76(6):1008-1022
-
(2005)
Am J Hum Genet
, vol.76
, Issue.6
, pp. 1008-1022
-
-
Ragge, N.K.1
Brown, A.G.2
Poloschek, C.M.3
-
25
-
-
0036153367
-
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology
-
Morrison D, FitzPatrick D, Hanson I, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology, J Med Genet 2002;39(1):16-22
-
(2002)
J Med Genet
, vol.39
, Issue.1
, pp. 16-22
-
-
Morrison, D.1
Fitzpatrick, D.2
Hanson, I.3
-
26
-
-
0033987736
-
Antonarakis SE Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum Mutat 2000;15(1):7-12
-
(2000)
Hum Mutat
, vol.15
, Issue.1
, pp. 7-12
-
-
den Dunnen, J.T.1
-
27
-
-
0031842937
-
The Human PAX6 Mutation Database
-
Brown A, McKie M, van Heyningen V, Prosser J The Human PAX6 Mutation Database, Nucleic Acids Res 1998;26(1):259-264
-
(1998)
Nucleic Acids Res
, vol.26
, Issue.1
, pp. 259-264
-
-
Brown, A.1
McKie, M.2
van Heyningen, V.3
Prosser, J.4
-
28
-
-
34248178260
-
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
-
Bamiou DE, Free SL, Sisodiya SM, et al. Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations, Arch Pediatr Adolesc Med 2007;161(5):463-469
-
(2007)
Arch Pediatr Adolesc Med
, vol.161
, Issue.5
, pp. 463-469
-
-
Bamiou, D.E.1
Free, S.L.2
Sisodiya, S.M.3
-
29
-
-
0344731080
-
Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding
-
Xu HE, Rould MA, Xu W, et al. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding, Genes Dev 1999;13(10):1263-1275
-
(1999)
Genes Dev
, vol.13
, Issue.10
, pp. 1263-1275
-
-
Xu, H.E.1
Rould, M.A.2
Xu, W.3
-
30
-
-
0035003144
-
Cater J Classification and management of Coats disease: The 2000
-
Shields JA, Shields CL, Honavar SG, Demirci H, Cater J Classification and management of Coats disease: the 2000, Proctor Lecture Am J Ophthalmol 2001;131(5):572-583
-
(2001)
Proctor Lecture Am J Ophthalmol
, vol.131
, Issue.5
, pp. 572-583
-
-
Shields, J.A.1
Shields, C.L.2
Honavar, S.G.3
Demirci, H.4
-
31
-
-
0027303249
-
PAX6 mutations in aniridia
-
Hanson IM, Seawright A, Hardman K, et al. PAX6 mutations in aniridia, Hum Mol Genet 1993;2(7):915-920
-
(1993)
Hum Mol Genet
, vol.2
, Issue.7
, pp. 915-920
-
-
Hanson, I.M.1
Seawright, A.2
Hardman, K.3
-
32
-
-
0141481132
-
Gal A Hereditary foveal hypoplasia: Clinical differentiation
-
Schroeder HW, Orth U, Meyer-König E, Gal A Hereditary foveal hypoplasia: clinical differentiation, Klin Monatsbl Augenheilkd 2003;220(8):559-562
-
(2003)
Klin Monatsbl Augenheilkd
, vol.220
, Issue.8
, pp. 559-562
-
-
Schroeder, H.W.1
Orth, U.2
Meyer-König, E.3
-
33
-
-
43049147169
-
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
-
Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia, Am J Med Genet A 2008;146(5):558-569
-
(2008)
Am J Med Genet A
, vol.146
, Issue.5
, pp. 558-569
-
-
Robinson, D.O.1
Howarth, R.J.2
Williamson, K.A.3
van Heyningen, V.4
Beal, S.J.5
Crolla, J.A.6
-
35
-
-
33947330375
-
Development of the retinal vasculature
-
Fruttiger M Development of the retinal vasculature, Angiogenesis 2007;10(2):77-88
-
(2007)
Angiogenesis
, vol.10
, Issue.2
, pp. 77-88
-
-
Fruttiger, M.1
-
36
-
-
33750430869
-
Corneal avascularity is due to soluble VEGF receptor-1
-
Ambati BK, Nozaki M, Singh N, et al. Corneal avascularity is due to soluble VEGF receptor-1, Nature 2006;443(7114):993-997
-
(2006)
Nature
, vol.443
, Issue.7114
, pp. 993-997
-
-
Ambati, B.K.1
Nozaki, M.2
Singh, N.3
|