-
1
-
-
0036139494
-
Getting your Pax straight: Pax proteins in development and disease
-
Chi N, Epstein JA. Getting your Pax straight: Pax proteins in development and disease. Trends Genet. 2002;18:41-47.
-
(2002)
Trends Genet
, vol.18
, pp. 41-47
-
-
Chi, N.1
Epstein, J.A.2
-
2
-
-
0029837282
-
Cooperative interactions between paired domain and homeodomain
-
Jun S, Desplan C. Cooperative interactions between paired domain and homeodomain. Development. 1996;122:2639-2650.
-
(1996)
Development
, vol.122
, pp. 2639-2650
-
-
Jun, S.1
Desplan, C.2
-
3
-
-
0027367938
-
Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina
-
Carriere C, Plaza S, Martin P, et al. Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina. Mol Cell Biol. 1993;13:7257-7266.
-
(1993)
Mol Cell Biol
, vol.13
, pp. 7257-7266
-
-
Carriere, C.1
Plaza, S.2
Martin, P.3
-
4
-
-
0028096639
-
Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing
-
Epstein JA, Glaser T, Cai J, Jepeal L, Walton DS, Maas RL. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev. 1994;8:2022-2034.
-
(1994)
Genes Dev
, vol.8
, pp. 2022-2034
-
-
Epstein, J.A.1
Glaser, T.2
Cai, J.3
Jepeal, L.4
Walton, D.S.5
Maas, R.L.6
-
5
-
-
0030832612
-
Alternatively spliced insertions in the paired domain restrict the DNA sequence specificity of Pax6 and Pax8
-
Kozmik Z, Czerny T, Busslinger M. Alternatively spliced insertions in the paired domain restrict the DNA sequence specificity of Pax6 and Pax8. EMBO J. 1997;16:6793-6803.
-
(1997)
EMBO J
, vol.16
, pp. 6793-6803
-
-
Kozmik, Z.1
Czerny, T.2
Busslinger, M.3
-
7
-
-
0030219742
-
Lens development and crystallin gene expression: Many roles for Pax-6
-
Cvekl A, Piatigorsky J. Lens development and crystallin gene expression: many roles for Pax-6. Bioessays. 1996;18:621-630.
-
(1996)
Bioessays
, vol.18
, pp. 621-630
-
-
Cvekl, A.1
Piatigorsky, J.2
-
8
-
-
0002067183
-
PAX6 gene mutations in aniridia
-
J. Wiggs, ed. New York: John Wiley & Sons
-
Glaser T, Walton DS, Cai J, Epstein JA, Jepeal L, Maas RL. PAX6 gene mutations in aniridia. In: J. Wiggs, ed. Molecular Genetics of Ocular Disease. New York: John Wiley & Sons; 1995:55-81.
-
(1995)
Molecular Genetics of Ocular Disease
, pp. 55-81
-
-
Glaser, T.1
Walton, D.S.2
Cai, J.3
Epstein, J.A.4
Jepeal, L.5
Maas, R.L.6
-
11
-
-
0035184055
-
Early eye development in vertebrates
-
Chow RL, Lang RA. Early eye development in vertebrates. Annu Rev Cell Dev Biol. 2001;17:255-296.
-
(2001)
Annu Rev Cell Dev Biol
, vol.17
, pp. 255-296
-
-
Chow, R.L.1
Lang, R.A.2
-
12
-
-
0036805779
-
Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of the other anterior eye segment abnormalities
-
Baulmann, DC, Ohlmann A, Flugel-Koch C, Goswami S, Cvekl A, Tamm ER. Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of the other anterior eye segment abnormalities. Mech Dev. 2002;118:3-17.
-
(2002)
Mech Dev
, vol.118
, pp. 3-17
-
-
Baulmann, D.C.1
Ohlmann, A.2
Flugel-Koch, C.3
Goswami, S.4
Cvekl, A.5
Tamm, E.R.6
-
13
-
-
0027715021
-
Mutations in the PAX6 gene in patients with hereditary aniridia
-
Davis A, Cowell JK. Mutations in the PAX6 gene in patients with hereditary aniridia. Hum Mol Genet. 1993;2:2093-2097.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2093-2097
-
-
Davis, A.1
Cowell, J.K.2
-
14
-
-
0028074973
-
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
-
Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet. 1994;7:463-471.
-
(1994)
Nat 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
-
15
-
-
0028308664
-
Mutations at the PAX6 locus are found in heterozygous anterior segment malformations including Peters' anomaly
-
Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterozygous anterior segment malformations including Peters' anomaly. Nat Genet. 1994;6:168-173.
-
(1994)
Nat Genet
, vol.6
, pp. 168-173
-
-
Hanson, I.M.1
Fletcher, J.M.2
Jordan, T.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;273:21531-21541.
-
(1998)
J Biol Chem
, vol.273
, pp. 21531-21541
-
-
Singh, S.1
Tang, H.K.2
Lee, J.Y.3
Saunders, G.F.4
-
17
-
-
0031670391
-
Ten novel mutations found in aniridia
-
Wolf MT, Lorenz B, Winterpacht A, et al. Ten novel mutations found in aniridia. Hum Mutat. 1998;12:304-313.
-
(1998)
Hum Mutat
, vol.12
, pp. 304-313
-
-
Wolf, M.T.1
Lorenz, B.2
Winterpacht, A.3
-
18
-
-
0032899711
-
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital diseases
-
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 diseases. Hum Mol Genet. 1999;8:165-172.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 165-172
-
-
Hanson, I.1
Churchill, A.2
Love, J.3
-
19
-
-
0037147118
-
PAX6, paired domain influences sequence recognition by the homeodomain
-
Mishra R, Gorlov IP, Chao LY, Singh S, Saunders GF. PAX6, paired domain influences sequence recognition by the homeodomain. J Biol Chem. 2002;277:49488-49494.
-
(2002)
J Biol Chem
, vol.277
, pp. 49488-49494
-
-
Mishra, R.1
Gorlov, I.P.2
Chao, L.Y.3
Singh, S.4
Saunders, G.F.5
-
20
-
-
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;39:16-22.
-
(2002)
J Med Genet
, vol.39
, pp. 16-22
-
-
Morrison, D.1
FitzPatrick, D.2
Hanson, I.3
-
21
-
-
0036777143
-
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene
-
Sale MM, Craig JE, Charlesworth JC, et al. Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. Hum Mutat. 2002;20:322-330.
-
(2002)
Hum Mutat
, vol.20
, pp. 322-330
-
-
Sale, M.M.1
Craig, J.E.2
Charlesworth, J.C.3
-
22
-
-
0037262322
-
Missense mutations in the DNA-binding region and termination codon in PAX6
-
Chao LY, Mishra R, Strong LC, Saunders GF. Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat. 2003;21:138-145.
-
(2003)
Hum Mutat
, vol.21
, pp. 138-145
-
-
Chao, L.Y.1
Mishra, R.2
Strong, L.C.3
Saunders, G.F.4
-
23
-
-
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;28:214-216.
-
(2001)
Nat Genet
, vol.28
, pp. 214-216
-
-
Sisodiya, S.M.1
Free, S.L.2
Williamson, K.A.3
-
24
-
-
0003354966
-
Aniridia
-
Ritch R, Shields MB, Krupin T, eds. St. Louis: CV Mosby
-
Hittner HM. Aniridia. In: Ritch R, Shields MB, Krupin T, eds. The Glaucomas. St. Louis: CV Mosby; 1989:869-884.
-
(1989)
The Glaucomas
, pp. 869-884
-
-
Hittner, H.M.1
-
25
-
-
0021240429
-
Aniridia. A review
-
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. 1984;28:621-642.
-
(1984)
Surv Ophthalmol
, vol.28
, pp. 621-642
-
-
Nelson, L.B.1
Spaeth, G.L.2
Nowinski, T.S.3
Margo, C.E.4
Jackson, L.5
-
27
-
-
0031110157
-
Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain
-
Yamaguchi Y, Sawada J, Yamada M, Handa H, Azuma N. Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain. Genes Cells. 1997;2:255-261.
-
(1997)
Genes Cells
, vol.2
, pp. 255-261
-
-
Yamaguchi, Y.1
Sawada, J.2
Yamada, M.3
Handa, H.4
Azuma, N.5
-
28
-
-
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, Epstein JA, Maas RL, Pabo CO. 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;13:1263-1275.
-
(1999)
Genes Dev
, vol.13
, pp. 1263-1275
-
-
Xu, H.E.1
Rould, M.A.2
Xu, W.3
Epstein, J.A.4
Maas, R.L.5
Pabo, C.O.6
-
29
-
-
0028869811
-
Transcriptional regulation of the mouse αA-crystallin gene: Activation dependent on a cyclic AMP-responsive element (DE1/CRE) and a Pax-6-binding site
-
Cvekl A, Kashanchi F, Sax CM, Brady JN, Piatigorsky J. Transcriptional regulation of the mouse αA-crystallin gene: activation dependent on a cyclic AMP-responsive element (DE1/CRE) and a Pax-6-binding site. Mol Cell Biol. 1995;15:653-660.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 653-660
-
-
Cvekl, A.1
Kashanchi, F.2
Sax, C.M.3
Brady, J.N.4
Piatigorsky, J.5
-
30
-
-
0028918392
-
DNA-binding and transactivation properties of Pax-6: Three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP(Pax-5)
-
Czerny T, Busslinger M. DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP(Pax-5). Mol Cell Biol. 1995;15:2858-2871.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 2858-2871
-
-
Czerny, T.1
Busslinger, M.2
-
31
-
-
0033786113
-
Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of α5β1 integrin expression
-
Duncan MK, Kozmik Z, Cveklova K, Piatigorsky J, Cvekl A. Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of α5β1 integrin expression. J Cell Sci. 2000;113:3173-3185.
-
(2000)
J Cell Sci
, vol.113
, pp. 3173-3185
-
-
Duncan, M.K.1
Kozmik, Z.2
Cveklova, K.3
Piatigorsky, J.4
Cvekl, A.5
-
33
-
-
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;6:381-386.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 381-386
-
-
Tang, H.K.1
Chao, L.Y.2
Saunders, G.F.3
-
34
-
-
0028239775
-
Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes
-
Epstein J, Cai J, Glaser T, Jepeal L, Maas R. Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J Biol Chem. 1994;269:8355-8361.
-
(1994)
J Biol Chem
, vol.269
, pp. 8355-8361
-
-
Epstein, J.1
Cai, J.2
Glaser, T.3
Jepeal, L.4
Maas, R.5
-
35
-
-
0029013329
-
Pax-6 is essential for lens-specific expression of ζ-crystallin
-
Richardson J, Cvekl A, Wistow G. Pax-6 is essential for lens-specific expression of ζ-crystallin. Proc Natl Acad Sci USA. 1995;92:4676-4680.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 4676-4680
-
-
Richardson, J.1
Cvekl, A.2
Wistow, G.3
-
36
-
-
0037139578
-
Complex regulatory element within the γE- and γF-crystallin enhancers mediates Pax6 regulation and is required for induction by retinoic acid
-
Kralova J, Czerny T, Spanielova H, Ratajova V, Kozmik Z. Complex regulatory element within the γE- and γF-crystallin enhancers mediates Pax6 regulation and is required for induction by retinoic acid. Gene. 2002;286:271-282.
-
(2002)
Gene
, vol.286
, pp. 271-282
-
-
Kralova, J.1
Czerny, T.2
Spanielova, H.3
Ratajova, V.4
Kozmik, Z.5
-
37
-
-
0033548148
-
Pax-6 and Cdx-2/3 interact to activate glucagon gene expression on the G1 control element
-
Ritz-Laser B, Estreicher A, Klages N, Saule S, Philippe J. Pax-6 and Cdx-2/3 interact to activate glucagon gene expression on the G1 control element. J Biol Chem. 1999;274:4124-4132.
-
(1999)
J Biol Chem
, vol.274
, pp. 4124-4132
-
-
Ritz-Laser, B.1
Estreicher, A.2
Klages, N.3
Saule, S.4
Philippe, J.5
-
38
-
-
0035283003
-
Regulation of c-maf gene expression by Pax6 in cultured cells
-
Sakai M, Serria MS, Ikeda H, Yoshida K, Imaki J, Nishi S. Regulation of c-maf gene expression by Pax6 in cultured cells. Nucleic Acids Res. 2001;29:1228-1237.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 1228-1237
-
-
Sakai, M.1
Serria, M.S.2
Ikeda, H.3
Yoshida, K.4
Imaki, J.5
Nishi, S.6
-
39
-
-
0942274429
-
Synergistic interactions between PAX6 and PAX6(5a)-mediated gene regulation and haploinsufficiency
-
Submitted
-
Chauhan BK, Yang Y, Cveklova K, Cvekl A. Synergistic interactions between PAX6 and PAX6(5a)-mediated gene regulation and haploinsufficiency. Nucleic Acids Res. Submitted.
-
Nucleic Acids Res
-
-
Chauhan, B.K.1
Yang, Y.2
Cveklova, K.3
Cvekl, A.4
-
40
-
-
0031840442
-
Dual roles for Pax-6: A transcriptional repressor of lens fiber cell-specific β-crystallin genes
-
Duncan MK, Haynes JI II, Cvekl A, Piatigorsky J. Dual roles for Pax-6: a transcriptional repressor of lens fiber cell-specific β-crystallin genes. Mol Cell Biol. 1998;18:5579-5586.
-
(1998)
Mol Cell Biol
, vol.18
, pp. 5579-5586
-
-
Duncan, M.K.1
Haynes II, J.I.2
Cvekl, A.3
Piatigorsky, J.4
-
43
-
-
0035830836
-
Superactivation of Pax6-mediated transactivation from paired domain-binding sites by DNA-independent recruitment of different homeodomain proteins
-
Mikkola I, Bruun JA, Holm T, Johansen T. Superactivation of Pax6-mediated transactivation from paired domain-binding sites by DNA-independent recruitment of different homeodomain proteins. J Biol Chem. 2001;276:4109-4118.
-
(2001)
J Biol Chem
, vol.276
, pp. 4109-4118
-
-
Mikkola, I.1
Bruun, J.A.2
Holm, T.3
Johansen, T.4
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