-
1
-
-
15844406352
-
Nonsense mutations inhibit RNA splicing in a cell-free system: Recognition of a mutant codon is independent of protein synthesis
-
Aoufouchi S, Yelamos J, Milstein C (1996) Nonsense mutations inhibit RNA splicing in a cell-free system: Recognition of a mutant codon is independent of protein synthesis. Cell 85:415-422.
-
(1996)
Cell
, vol.85
, pp. 415-422
-
-
Aoufouchi, S.1
Yelamos, J.2
Milstein, C.3
-
2
-
-
0030927863
-
The incidence of PAX6 mutation in patients with simple aniridia. An evaluation of mutation detection in 12 cases
-
Axton R, Hanson I, Danes S, Sellar G, van Heyningen V, Prosser J (1997) The incidence of PAX6 mutation in patients with simple aniridia. An evaluation of mutation detection in 12 cases. J Med Genet 34:279-306.
-
(1997)
J Med Genet
, vol.34
, pp. 279-306
-
-
Axton, R.1
Hanson, I.2
Danes, S.3
Sellar, G.4
Van Heyningen, V.5
Prosser, J.6
-
3
-
-
0030162151
-
PAX6 missense mutation in isolated foveal hypoplasia
-
Azuma N, Nishina S (1996) PAX6 missense mutation in isolated foveal hypoplasia. Nature Genet 13:141-142.
-
(1996)
Nature Genet
, vol.13
, pp. 141-142
-
-
Azuma, N.1
Nishina, S.2
-
4
-
-
0023873686
-
Ionizing radiation-induced mutagenesis
-
Breimer LH (1988) Ionizing radiation-induced mutagenesis. Br J Cancer 57:6-18.
-
(1988)
Br J Cancer
, vol.57
, pp. 6-18
-
-
Breimer, L.H.1
-
6
-
-
0028839631
-
Nuclear localization signals, DNA binding and transactivation properties of quail Pax-6 (Pax-QNR) Isoforms
-
Carriere C, Plaza S, Caboche J, Dozier C, Bailly M, Martin P, Saule S (1995) Nuclear localization signals, DNA binding and transactivation properties of quail Pax-6 (Pax-QNR) Isoforms. Cell Growth Diff 6:1531-1540.
-
(1995)
Cell Growth Diff
, vol.6
, pp. 1531-1540
-
-
Carriere, C.1
Plaza, S.2
Caboche, J.3
Dozier, C.4
Bailly, M.5
Martin, P.6
Saule, S.7
-
7
-
-
0028062796
-
Characterization of Pax-6 and Hoxa-1 binding to the promoter region of the neural cell adhesion molecule L1
-
Chalepakis G, Wijnholds J, Gicse P, Schachner M, Gruss P (1994) Characterization of Pax-6 and Hoxa-1 binding to the promoter region of the neural cell adhesion molecule L1. DNA Cell Biol 13:891-900.
-
(1994)
DNA Cell Biol
, vol.13
, pp. 891-900
-
-
Chalepakis, G.1
Wijnholds, J.2
Gicse, P.3
Schachner, M.4
Gruss, P.5
-
8
-
-
0029155709
-
Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3
-
Chisholm AD, Horvitz HR (1995) Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3. Nature 377:52-55.
-
(1995)
Nature
, vol.377
, pp. 52-55
-
-
Chisholm, A.D.1
Horvitz, H.R.2
-
10
-
-
0030042376
-
FISH studies in a patient with sporadic aniridia and t(7;11)(q31.2;p13)
-
Crolla JA, Cross I, Wright M, Oley CA (1996) FISH studies in a patient with sporadic aniridia and t(7;11)(q31.2;p13). J Med Genet 33:66-68.
-
(1996)
J Med Genet
, vol.33
, pp. 66-68
-
-
Crolla, J.A.1
Cross, I.2
Wright, M.3
Oley, C.A.4
-
11
-
-
0030219742
-
Lens development and crystallin gene expression: Many roles for Pax-6
-
Cvekl A, Piatigorsky J (1996) Lens development and crystallin gene expression: Many roles for Pax-6. BioEssays 18 621-630.
-
(1996)
BioEssays
, vol.18
, pp. 621-630
-
-
Cvekl, A.1
Piatigorsky, J.2
-
12
-
-
0027999510
-
A complex array of positive and negative elements regulates the chicken αA-crystallin gene: Involvement of Pax-6, USF, CREB and/or CREM, and AP-1 proteins
-
Cvekl A, Sax CM, Bresnick EH, Piatigorsky J (1994) A complex array of positive and negative elements regulates the chicken αA-crystallin gene: Involvement of Pax-6, USF, CREB and/or CREM, and AP-1 proteins. Mol Cell Biol 14.7363-7376.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 7363-7376
-
-
Cvekl, A.1
Sax, C.M.2
Bresnick, E.H.3
Piatigorsky, J.4
-
13
-
-
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 (1995) 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 15:2858-2871.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 2858-2871
-
-
Czerny, T.1
Busslinger, M.2
-
14
-
-
0027426925
-
DNA sequence recognition by Pax proteins: Biparrire structure of the paired domain and its binding site
-
Czerny T, Schaffner G, Busslinger M (1993) DNA sequence recognition by Pax proteins: Biparrire structure of the paired domain and its binding site. Genes Dev 7:2048-2061.
-
(1993)
Genes Dev
, vol.7
, pp. 2048-2061
-
-
Czerny, T.1
Schaffner, G.2
Busslinger, M.3
-
15
-
-
0027715021
-
Mutations in the PAX6 gene in patients with hereditary aniridia
-
Davis A, Cowell JK (1993) Mutations in the PAX6 gene in patients with hereditary aniridia. Hum Mol Genet 2:2093-2097.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2093-2097
-
-
Davis, A.1
Cowell, J.K.2
-
16
-
-
0027363063
-
Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
-
Dietrich WF, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, Borenstein N, Dove W (1993) Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell 75:631-639.
-
(1993)
Cell
, vol.75
, pp. 631-639
-
-
Dietrich, W.F.1
Lander, E.S.2
Smith, J.S.3
Moser, A.R.4
Gould, K.A.5
Luongo, C.6
Borenstein, N.7
Dove, W.8
-
17
-
-
0029738552
-
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia
-
Drechsler M, Royer-Pokora B (1996) A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia. Hum Genet 98:297-303.
-
(1996)
Hum Genet
, vol.98
, pp. 297-303
-
-
Drechsler, M.1
Royer-Pokora, B.2
-
18
-
-
0028239775
-
Identification of a paired domain recognition sequence and evidence for DNA-dependent conformational changes
-
Epstein J, Cai J, Jepeal L, Maas R (1994) Identification of a paired domain recognition sequence and evidence for DNA-dependent conformational changes. J Biol Chem 269:8355-8361.
-
(1994)
J Biol Chem
, vol.269
, pp. 8355-8361
-
-
Epstein, J.1
Cai, J.2
Jepeal, L.3
Maas, R.4
-
19
-
-
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 RI. (1994) Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev 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.I.6
-
20
-
-
0028907724
-
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
-
Fantes J, Redecker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Danes S, van Heyningen V, Hanson I (1995) Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 4:415-422.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 415-422
-
-
Fantes, J.1
Redecker, B.2
Breen, M.3
Boyle, S.4
Brown, J.5
Fletcher, J.6
Jones, S.7
Bickmore, W.8
Fukushima, Y.9
Danes, S.10
Van Heyningen, V.11
Hanson, I.12
-
21
-
-
0026740023
-
Nonradioactive in situ hybridization for rapid analysis of submicroscopic deletions at the WAGR locus
-
Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson I, van Heyningen V (1992) Nonradioactive in situ hybridization for rapid analysis of submicroscopic deletions at the WAGR locus. Am J Hum Genet 51:1286-1294.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1286-1294
-
-
Fantes, J.A.1
Bickmore, W.A.2
Fletcher, J.M.3
Ballesta, F.4
Hanson, I.5
Van Heyningen, V.6
-
22
-
-
0029678243
-
The master control gene for morphogenesis and evolution of the eye
-
Gehring WJ (1996) The master control gene for morphogenesis and evolution of the eye. Genes Cells 1:11-15.
-
(1996)
Genes Cells
, vol.1
, pp. 11-15
-
-
Gehring, W.J.1
-
23
-
-
0031038186
-
Conservation of Pax-6 in a lower chordate, the ascidian Phallusia mammillata
-
Glardon S, Callaerts P, Halder G, Gehring WJ (1997) Conservation of Pax-6 in a lower chordate, the ascidian Phallusia mammillata Development 124:817-825.
-
(1997)
Development
, vol.124
, pp. 817-825
-
-
Glardon, S.1
Callaerts, P.2
Halder, G.3
Gehring, W.J.4
-
24
-
-
0025200949
-
A mouse model of the aniridia-Wilms tumor deletion syndrome
-
Glaser T, Lane J, Housman D (1990) A mouse model of the aniridia-Wilms tumor deletion syndrome. Science 250:823-827.
-
(1990)
Science
, vol.250
, pp. 823-827
-
-
Glaser, T.1
Lane, J.2
Housman, D.3
-
25
-
-
0002067183
-
PAX6 gene mutations in aniridia
-
J. Wiggs, ed. (Wiley-Liss, Inc.)
-
Glaser T, Walron DS, Cai J, Epstein JA, Jepeal L, Maas RL (1995) PAX6 gene mutations in aniridia. In Molecular Genetics of Ocular Disease. J. Wiggs, ed. (Wiley-Liss, Inc.), pp 51-82.
-
(1995)
Molecular Genetics of Ocular Disease
, pp. 51-82
-
-
Glaser, T.1
Walron, D.S.2
Cai, J.3
Epstein, J.A.4
Jepeal, L.5
Maas, R.L.6
-
26
-
-
0026949405
-
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. Nature Genet 2:232-239.
-
(1992)
Nature Genet
, vol.2
, pp. 232-239
-
-
Glaser, T.1
Walton, D.S.2
Maas, R.L.3
-
27
-
-
0028140080
-
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation)
-
Glaser T, Ton CCT, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC, Housman DE, Maas RL (1994a) Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). Genomics 19:145-148.
-
(1994)
Genomics
, vol.19
, pp. 145-148
-
-
Glaser, T.1
Ton, C.C.T.2
Mueller, R.3
Petzl-Erler, M.L.4
Oliver, C.5
Nevin, N.C.6
Housman, D.E.7
Maas, R.L.8
-
28
-
-
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 (1994b) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genetics 7, 463-471.
-
(1994)
Nature Genetics
, 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
-
29
-
-
0029002548
-
The role of Pax-6 in eye and nasal development
-
Grindley JC, Davidson DR, Hill RE (1995) The role of Pax-6 in eye and nasal development. Development 121:1433-1442.
-
(1995)
Development
, vol.121
, pp. 1433-1442
-
-
Grindley, J.C.1
Davidson, D.R.2
Hill, R.E.3
-
30
-
-
0028944665
-
Induction of ecropic eyes by targeted expression of the eyeless gene in Drosophilla
-
Halder G, Callaerts P, Gehring WJ (1995) Induction of ecropic eyes by targeted expression of the eyeless gene in Drosophilla Science 267.1788-1792.
-
(1995)
Science
, vol.267
, pp. 1788-1792
-
-
Halder, G.1
Callaerts, P.2
Gehring, W.J.3
-
31
-
-
0029054291
-
Pax6. More than meets the eye
-
Hanson I, van Heyningen V (1995) Pax6. More than meets the eye. TIG 11.268-272.
-
(1995)
TIG
, vol.11
, pp. 268-272
-
-
Hanson, I.1
Van Heyningen, V.2
-
33
-
-
0027303249
-
PAX6 mutations in aniridia
-
Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heynmgen V (1993) PAX6 mutations in aniridia. Hum Mol Genet 2:915-920.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 915-920
-
-
Hanson, I.M.1
Seawright, A.2
Hardman, K.3
Hodgson, S.4
Zaletayev, D.5
Fekete, G.6
Van Heynmgen, V.7
-
34
-
-
0005649545
-
Aniridia
-
Wright AF, Jay B (eds): Harwood Academic, Switzerland
-
Hanson I, Jordan T, van Heyningen V (1994a) Aniridia. In Wright AF, Jay B (eds): Molecular Genetics of Inherited Eye Disorders. Harwood Academic, Switzerland, pp 445-467
-
(1994)
Molecular Genetics of Inherited Eye Disorders
, pp. 445-467
-
-
Hanson, I.1
Jordan, T.2
Van Heyningen, V.3
-
35
-
-
0028308664
-
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
-
Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V (1994b) Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet 6.168-173.
-
(1994)
Nature Genet
, vol.6
, pp. 168-173
-
-
Hanson, I.M.1
Fletcher, J.M.2
Jordan, T.3
Brown, A.4
Taylor, D.5
Adams, R.J.6
Punnett, H.H.7
Van Heyningen, V.8
-
36
-
-
0030987235
-
Pax-6: Where to be conserved is not conservative
-
Harris WA (1997) Pax-6: Where to be conserved is not conservative. Proc Natl Acad Sci USA 94:2098-2100.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2098-2100
-
-
Harris, W.A.1
-
37
-
-
0026345992
-
Mouse Small eye results from mutations in a paired-like homeobox-containing gene
-
Hill RE, Favor J, Hogan BLM, Ton CCT, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, van Heyningen V (1991) Mouse Small eye results from mutations in a paired-like homeobox-containing gene. Nature 354:522-525.
-
(1991)
Nature
, vol.354
, pp. 522-525
-
-
Hill, R.E.1
Favor, J.2
Hogan, B.L.M.3
Ton, C.C.T.4
Saunders, G.F.5
Hanson, I.M.6
Prosser, J.7
Jordan, T.8
Hastie, N.D.9
Van Heyningen, V.10
-
38
-
-
0019123967
-
A probable case of the homozygous condition of the aniridia gene
-
Hodgson SV, Saunders KE (1980) A probable case of the homozygous condition of the aniridia gene. J Med Gener 17:478-480.
-
(1980)
J Med Gener
, vol.17
, pp. 478-480
-
-
Hodgson, S.V.1
Saunders, K.E.2
-
39
-
-
0026907123
-
The human PAX6 gene is mutated in two patients with aniridia
-
Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V (1992) The human PAX6 gene is mutated in two patients with aniridia. Nature Genet 1:328-332.
-
(1992)
Nature Genet
, vol.1
, pp. 328-332
-
-
Jordan, T.1
Hanson, I.2
Zaletayev, D.3
Hodgson, S.4
Prosser, J.5
Seawright, A.6
Hastie, N.7
Van Heyningen, V.8
-
40
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper NC (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences. Hum Genet 90:41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, N.C.3
-
42
-
-
0029330286
-
When cells stop making sense. Effects of nonsense codons on RNA metabolism in vertebrate cells
-
Maquat LE (1995) When cells stop making sense. Effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465.
-
(1995)
RNA
, vol.1
, pp. 453-465
-
-
Maquat, L.E.1
-
43
-
-
0027689676
-
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene
-
Martha AD, Ferrell RE, Saunders GF (1993) Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene. Hum Mol Genet 2:1982.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1982
-
-
Martha, A.D.1
Ferrell, R.E.2
Saunders, G.F.3
-
44
-
-
0028294152
-
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
-
Martha AD, Ferrell RE, Mintz-Hittner H, Lyons LA, Saunders GF (1994a) Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet 54:801-811.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 801-811
-
-
Martha, A.D.1
Ferrell, R.E.2
Mintz-Hittner, H.3
Lyons, L.A.4
Saunders, G.F.5
-
45
-
-
0028349083
-
Nonsense mutation in the homeobox region of the aniridia gene
-
Martha AD, Ferrell RE, Saunders GF (1994b) Nonsense mutation in the homeobox region of the aniridia gene. Hum Mutat 3:297-300.
-
(1994)
Hum Mutat
, vol.3
, pp. 297-300
-
-
Martha, A.D.1
Ferrell, R.E.2
Saunders, G.F.3
-
47
-
-
0027506485
-
A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells
-
Matsuo T, Osumi-Yamashita N, NOJI S, Ohuchi H, Koyama E, Myokai F, Matsuo N, Taniguchi S, Doi H, Iseki S, Ninomiva Y, Fujiwara M, Watanabe T, Eto K (1993) A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nature Genet 3:299-304.
-
(1993)
Nature Genet
, vol.3
, pp. 299-304
-
-
Matsuo, T.1
Osumi-Yamashita, N.2
Noji, S.3
Ohuchi, H.4
Koyama, E.5
Myokai, F.6
Matsuo, N.7
Taniguchi, S.8
Doi, H.9
Iseki, S.10
Ninomiva, Y.11
Fujiwara, M.12
Watanabe, T.13
Eto, K.14
-
49
-
-
0028893039
-
Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene
-
Plaza S, Dozier C, Langlois M-C, Saule S (1995) Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene. Mol Cell Biol 15:892-903.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 892-903
-
-
Plaza, S.1
Dozier, C.2
Langlois, M.-C.3
Saule, S.4
-
50
-
-
0026576107
-
Sequence and expression pattern of pax-6 are higldy conserved between zebrafish and mice
-
Puschel AW, Gruss JR Westerfield M (1992) Sequence and expression pattern of pax-6 are higldy conserved between zebrafish and mice. Development 114:643-651.
-
(1992)
Development
, vol.114
, pp. 643-651
-
-
Puschel, A.W.1
Gruss, J.R.2
Westerfield, M.3
-
51
-
-
0027965633
-
Homology of the eyeless gene of Drosophila to the Small eye gene and aniridia in humans
-
Quiring R, Walldorf U, Kloter U, Gehring WJ (1994) Homology of the eyeless gene of Drosophila to the Small eye gene and aniridia in humans. Science 265:785-789.
-
(1994)
Science
, vol.265
, pp. 785-789
-
-
Quiring, R.1
Walldorf, U.2
Kloter, U.3
Gehring, W.J.4
-
52
-
-
0029013329
-
Pax-6 is essential for lens-specific expression of ζ-crystallin
-
Richardson J, Cvekl A, Wistow G (1995) Pax-6 is essential for lens-specific expression of ζ-crystallin. Proc Natl Acad Sci USA 92:4676-4680.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 4676-4680
-
-
Richardson, J.1
Cvekl, A.2
Wistow, G.3
-
53
-
-
0031056232
-
A "master control" gene for fly eyes shares its power
-
Roush W (1997) A "master control" gene for fly eyes shares its power. Science 275:618-619
-
(1997)
Science
, vol.275
, pp. 618-619
-
-
Roush, W.1
-
54
-
-
0029704248
-
Identification of a novel PAX6 gene mutation in an aniridia patient
-
Sahly I, Abitbol M, Laurent C, Ghazi I, Ribeaudeau F, Vekemans M, Dufier J-L (1996) Identification of a novel PAX6 gene mutation in an aniridia patient. Hum Mutat 7:377.
-
(1996)
Hum Mutat
, vol.7
, pp. 377
-
-
Sahly, I.1
Abitbol, M.2
Laurent, C.3
Ghazi, I.4
Ribeaudeau, F.5
Vekemans, M.6
Dufier, J.-L.7
-
55
-
-
6844245480
-
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia
-
in press
-
Saunders GF, Chao L-Y (1997) Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia. Hum Mutat (in press).
-
(1997)
Hum Mutat
-
-
Saunders, G.F.1
Chao, L.-Y.2
-
56
-
-
0030581164
-
Influence of PAX6 gene dosage on development: Overexpression causes severe eye abnormalities
-
Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van Heyningen V, Hastie ND (1996) Influence of PAX6 gene dosage on development: Overexpression causes severe eye abnormalities. Cell 86:71-82.
-
(1996)
Cell
, vol.86
, pp. 71-82
-
-
Schedl, A.1
Ross, A.2
Lee, M.3
Engelkamp, D.4
Rashbass, P.5
Van Heyningen, V.6
Hastie, N.D.7
-
57
-
-
0031037843
-
Ectopic eye development in Drosophila induced by directed dachshund expression
-
Shen W, Mardon G (1997) Ectopic eye development in Drosophila induced by directed dachshund expression. Development 124:45-52.
-
(1997)
Development
, vol.124
, pp. 45-52
-
-
Shen, W.1
Mardon, G.2
-
58
-
-
0030923056
-
Direct regulation of rhodopsin 1 by Pax6/eyeless in Drosophila Evidence for a conserved function in photoreceptors
-
Sheng G, Thouvenot E, Schmucker D, Wilson DS, Desplan C (1997) Direct regulation of rhodopsin 1 by Pax6/eyeless in Drosophila Evidence for a conserved function in photoreceptors. Genes Dev 11:1122-1131.
-
(1997)
Genes Dev
, vol.11
, pp. 1122-1131
-
-
Sheng, G.1
Thouvenot, E.2
Schmucker, D.3
Wilson, D.S.4
Desplan, C.5
-
59
-
-
0026656818
-
Assessing the underlying pattern of human germ-line mutations: Lessons from the factor IX gene
-
Sommer SS (1992) Assessing the underlying pattern of human germ-line mutations: Lessons from the factor IX gene FASEBJ 6:2767-2774.
-
(1992)
FASEBJ
, vol.6
, pp. 2767-2774
-
-
Sommer, S.S.1
-
60
-
-
0028960841
-
Recent human germ-line mutation: Inferences from patients with hemophilia B
-
Sommer SS (1995) Recent human germ-line mutation: inferences from patients with hemophilia B. TIG 11:141-147.
-
(1995)
TIG
, vol.11
, pp. 141-147
-
-
Sommer, S.S.1
-
61
-
-
0029790560
-
The factor IX gene as a model for analysis of human germline mutations: An update
-
Sommer SS, Ketterling RP (1996) The factor IX gene as a model for analysis of human germline mutations: An update. Hum Mol Genet 5:1505-1514.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1505-1514
-
-
Sommer, S.S.1
Ketterling, R.P.2
-
62
-
-
0028207924
-
Roles of Pax-genes in developing and adult brain as suggested by expression patterns
-
Stoykova A, Gruss P (1994) Roles of Pax-genes in developing and adult brain as suggested by expression patterns. J Neurosci 14 1395-1412.
-
(1994)
J Neurosci
, vol.14
, pp. 1395-1412
-
-
Stoykova, A.1
Gruss, P.2
-
64
-
-
0031059181
-
Functional analysis of paired box missense mutations in the PAX6 gene
-
Tang HK, Chao LY, Saunders GF (1997) Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet 6:381-386.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 381-386
-
-
Tang, H.K.1
Chao, L.Y.2
Saunders, G.F.3
-
65
-
-
0030903758
-
Squid Pax-6 and eye development
-
Tomarev SI, Callaerts P, Kos L, Zinovieva R, Halder G, Gehring W, Piatigorsky J (1997) Squid Pax-6 and eye development. Proc Natl Acad Sci USA 94:2421-2426.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2421-2426
-
-
Tomarev, S.I.1
Callaerts, P.2
Kos, L.3
Zinovieva, R.4
Halder, G.5
Gehring, W.6
Piatigorsky, J.7
-
66
-
-
0026315044
-
Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region
-
Ton CCT, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, Royer-Pokora B, Collins F, Swaroop A, Strong LC, Saundeis GF (1991) Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell 67:1059-1074.
-
(1991)
Cell
, vol.67
, pp. 1059-1074
-
-
Ton, C.C.T.1
Hirvonen, H.2
Miwa, H.3
Weil, M.M.4
Monaghan, P.5
Jordan, T.6
Van Heyningen, V.7
Hastie, N.D.8
Meijers-Heijboer, H.9
Drechsler, M.10
Royer-Pokora, B.11
Collins, F.12
Swaroop, A.13
Strong, L.C.14
Saundeis, G.F.15
-
67
-
-
0026755544
-
Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene
-
Ton CC, Miwa H, Saunders GF (1992) Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene. Genomics 13:251-256.
-
(1992)
Genomics
, vol.13
, pp. 251-256
-
-
Ton, C.C.1
Miwa, H.2
Saunders, G.F.3
-
68
-
-
84920300148
-
Pax-QNR/ Pax-6, a paired box- and homeobox-containing gene expressed in neurons, is also expressed in pancreatic endocrine cells
-
Turque N, Plaza S, Radvanyi F, Carriere C, Saule S (1991) Pax-QNR/ Pax-6, a paired box- and homeobox-containing gene expressed in neurons, is also expressed in pancreatic endocrine cells. Development 113:1435-1449.
-
(1991)
Development
, vol.113
, pp. 1435-1449
-
-
Turque, N.1
Plaza, S.2
Radvanyi, F.3
Carriere, C.4
Saule, S.5
-
69
-
-
0025954965
-
Pax: A murine multigene family of paired box-containing genes
-
Walther C, Guenet J-L, Simon D, Deutsch U, Jostes B, Goulding MD, Plachov D, Balling R, Gruss P (1991) Pax: A murine multigene family of paired box-containing genes. Genomics 11:424-434.
-
(1991)
Genomics
, vol.11
, pp. 424-434
-
-
Walther, C.1
Guenet, J.-L.2
Simon, D.3
Deutsch, U.4
Jostes, B.5
Goulding, M.D.6
Plachov, D.7
Balling, R.8
Gruss, P.9
-
70
-
-
0028919759
-
Crystal structure of a paired domain-DNA complex at 2.5A resolution reveals structural basis for pax developmental mutations
-
Xu W, Rould MA, Jun S, Desplan C, Pabo CO (1995) Crystal structure of a paired domain-DNA complex at 2.5A resolution reveals structural basis for pax developmental mutations. Cell 80:639-650.
-
(1995)
Cell
, vol.80
, pp. 639-650
-
-
Xu, W.1
Rould, M.A.2
Jun, S.3
Desplan, C.4
Pabo, C.O.5
-
71
-
-
0029149918
-
Specification of sense-organ identity by Caenorhabditis elegans Pax-6 homologue
-
Zhang Y, Emmons SW (1995) Specification of sense-organ identity by Caenorhabditis elegans Pax-6 homologue. Nature 377:55-59.
-
(1995)
Nature
, vol.377
, pp. 55-59
-
-
Zhang, Y.1
Emmons, S.W.2
-
72
-
-
6844244376
-
PAX6 gene mutation in aniridia
-
Zhu D, Li Y, Traboulsi EI, Levin AV, Maumenee Hussels IE (1995) PAX6 gene mutation in aniridia Am J Hum Genet 57:1350.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1350
-
-
Zhu, D.1
Li, Y.2
Traboulsi, E.I.3
Levin, A.V.4
Maumenee Hussels, I.E.5
|