-
1
-
-
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, Saunders 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
Saunders, G.F.15
-
2
-
-
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. Nat Genet 1:328-332
-
(1992)
Nat 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
-
3
-
-
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. Nat Genet 2:232-239
-
(1992)
Nat Genet
, vol.2
, pp. 232-239
-
-
Glaser, T.1
Walton, D.S.2
Maas, R.L.3
-
4
-
-
0027303249
-
PAX6 mutations in aniridia
-
Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen 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 Heyningen, V.7
-
5
-
-
0028294152
-
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
-
Martha A, Ferrell RE, Mintz-Hittner H, Lyons LA, Saunders GF 1994 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.1
Ferrell, R.E.2
Mintz-Hittner, H.3
Lyons, L.A.4
Saunders, G.F.5
-
6
-
-
0026345992
-
Mouse small eye results from mutations in a paired-like homeobox-containing gene
-
Hill RE, Favor J, Hogan BL, Ton CC, 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.3
Ton, C.C.4
Saunders, G.F.5
Hanson, I.M.6
Prosser, J.7
Jordan, T.8
Hastie, N.D.9
Van Heyningen, V.10
-
7
-
-
0029160486
-
High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA
-
Wilson DS, Guenther B, Desplan C, Kuriyan J 1995 High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA. Cell 82:709-719
-
(1995)
Cell
, vol.82
, pp. 709-719
-
-
Wilson, D.S.1
Guenther, B.2
Desplan, C.3
Kuriyan, J.4
-
8
-
-
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 1999 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 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
-
9
-
-
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 1994 PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 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
-
10
-
-
0035871139
-
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
-
Singh S, Chao LY, Mishra R, Davies J, Saunders GF 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet 10:911-918
-
(2001)
Hum Mol Genet
, vol.10
, pp. 911-918
-
-
Singh, S.1
Chao, L.Y.2
Mishra, R.3
Davies, J.4
Saunders, G.F.5
-
11
-
-
0036844718
-
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
-
Crolla JA, Van Heyningen V 2002 Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet 71:1138-1149
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1138-1149
-
-
Crolla, J.A.1
Van Heyningen, V.2
-
14
-
-
0033082394
-
RNA surveillance: Unforeseen consequences for gene expression, inherited genetic disorders and cancer
-
Culbertson MR 1999 RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 15:74-80
-
(1999)
Trends Genet
, vol.15
, pp. 74-80
-
-
Culbertson, M.R.1
-
15
-
-
0036142862
-
Killing the messenger: New insights into nonsense-mediated mRNA decay
-
Byers PH 2002 Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest 109:3-6
-
(2002)
J Clin Invest
, vol.109
, pp. 3-6
-
-
Byers, P.H.1
-
16
-
-
0037300234
-
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects
-
Vincent MC, Pujo AL, Olivier D, Calvas P 2003 Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects Eur J Hum Genet 11:163-169
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 163-169
-
-
Vincent, M.C.1
Pujo, A.L.2
Olivier, D.3
Calvas, P.4
-
17
-
-
0033584570
-
Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia
-
Baum L, Pang CP, Fan DS, Poon PM, Leung YF, Chua JK, Lam DS 1999 Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia. Hum Mutat 14:272-273
-
(1999)
Hum Mutat
, vol.14
, pp. 272-273
-
-
Baum, L.1
Pang, C.P.2
Fan, D.S.3
Poon, P.M.4
Leung, Y.F.5
Chua, J.K.6
Lam, D.S.7
-
18
-
-
4644256831
-
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
-
Gronskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brondum-Nielsen K, Rosenberg T 2001 Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet 109:11-18
-
(2001)
Hum Genet
, vol.109
, pp. 11-18
-
-
Gronskov, K.1
Olsen, J.H.2
Sand, A.3
Pedersen, W.4
Carlsen, N.5
Bak Jylling, A.M.6
Lyngbye, T.7
Brondum-Nielsen, K.8
Rosenberg, T.9
-
19
-
-
0034938449
-
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
-
Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V 2001 PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans Nat Genet 28:214-216
-
(2001)
Nat Genet
, vol.28
, pp. 214-216
-
-
Sisodiya, S.M.1
Free, S.L.2
Williamson, K.A.3
Mitchell, T.N.4
Willis, C.5
Stevens, J.M.6
Kendall, B.E.7
Shorvon, S.D.8
Hanson, I.M.9
Moore, A.T.10
Van Heyningen, V.11
-
20
-
-
0037262322
-
Missense mutations in the DNA-binding region and termination codon in PAX6
-
Chao LY, Mishra R, Strong LC, Saunders GF 2003 Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat 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
-
21
-
-
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
-
22
-
-
0032903663
-
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
-
Gronskov K, Rosenberg T, Sand A, Brondum-Nielsen K 1999 Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet 7:274-286
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 274-286
-
-
Gronskov, K.1
Rosenberg, T.2
Sand, A.3
Brondum-Nielsen, K.4
-
23
-
-
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, Axton R, Moore T, Clarke M, Meire F, van Heyningen V 1999 Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 8:165-172
-
(1999)
Hum Mol Genet
, vol.8
, pp. 165-172
-
-
Hanson, I.1
Churchill, A.2
Love, J.3
Axton, R.4
Moore, T.5
Clarke, M.6
Meire, F.7
Van Heyningen, V.8
-
24
-
-
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 1994 Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 6:168-173
-
(1994)
Nat 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
-
25
-
-
0030162151
-
PAX6 missense mutation in isolated foveal hypoplasia
-
Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M 1996 PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 13:141-142
-
(1996)
Nat Genet
, vol.13
, pp. 141-142
-
-
Azuma, N.1
Nishina, S.2
Yanagisawa, H.3
Okuyama, T.4
Yamada, M.5
-
26
-
-
0031969487
-
Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies
-
Azuma N, Yamada M 1998 Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies. Invest Ophthalmol Vis Sci 39:828-830
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 828-830
-
-
Azuma, N.1
Yamada, M.2
-
27
-
-
0033362155
-
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
-
Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M 1999 Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 65:656-663
-
(1999)
Am J Hum Genet
, vol.65
, pp. 656-663
-
-
Azuma, N.1
Yamaguchi, Y.2
Handa, H.3
Hayakawa, M.4
Kanai, A.5
Yamada, M.6
-
29
-
-
0038353669
-
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, Kawase E, Yamada M 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 72:1565-1570
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1565-1570
-
-
Azuma, N.1
Yamaguchi, Y.2
Handa, H.3
Tadokoro, K.4
Asaka, A.5
Kawase, E.6
Yamada, M.7
-
30
-
-
0036153367
-
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology
-
Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H 2002 National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 39:16-22
-
(2002)
J Med Genet
, vol.39
, pp. 16-22
-
-
Morrison, D.1
FitzPatrick, D.2
Hanson, I.3
Williamson, K.4
Van Heyningen, V.5
Fleck, B.6
Jones, I.7
Chalmers, J.8
Campbell, H.9
-
31
-
-
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 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.L.6
-
32
-
-
0037076371
-
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform
-
Singh S, Mishra R, Arango NA, Deng JM, Behringer RR, Saunders GF 2002 Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. Proc Natl Acad Sci USA 99:6812-6815
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 6812-6815
-
-
Singh, S.1
Mishra, R.2
Arango, N.A.3
Deng, J.M.4
Behringer, R.R.5
Saunders, G.F.6
-
33
-
-
0036183742
-
Recent advances in Wilms tumor genetics
-
Dome JS, Coppes MJ 2002 Recent advances in Wilms tumor genetics. Curr Opin Pediatr 14:5-11
-
(2002)
Curr Opin Pediatr
, vol.14
, pp. 5-11
-
-
Dome, J.S.1
Coppes, M.J.2
-
34
-
-
0027935627
-
Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene
-
Drechsler M, Meijers-Heijboer EJ, Schneider S, Schurich B, Grond-Ginsbach C, Tariverdian G, Kantner G, Blankenagel A, Kaps D, Schroeder-Kurth T, Royer-Pokora B 1994 Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene. Hum Genet 94:331-338
-
(1994)
Hum Genet
, vol.94
, pp. 331-338
-
-
Drechsler, M.1
Meijers-Heijboer, E.J.2
Schneider, S.3
Schurich, B.4
Grond-Ginsbach, C.5
Tariverdian, G.6
Kantner, G.7
Blankenagel, A.8
Kaps, D.9
Schroeder-Kurth, T.10
Royer-Pokora, B.11
-
35
-
-
0036532250
-
Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients
-
Muto R, Yamamori S, Ohashi H, Osawa M 2002 Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients. Am J Med Genet 108:285-289
-
(2002)
Am J Med Genet
, vol.108
, pp. 285-289
-
-
Muto, R.1
Yamamori, S.2
Ohashi, H.3
Osawa, M.4
-
36
-
-
0026740023
-
Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization
-
Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson IM, van Heyningen V 1992 Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. 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.M.5
Van Heyningen, V.6
-
37
-
-
0035209531
-
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos
-
Kawase E, Tanaka K, Honna T, Azuma N 2001 A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. Arch Ophthalmol 119:1855-1856
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 1855-1856
-
-
Kawase, E.1
Tanaka, K.2
Honna, T.3
Azuma, N.4
-
39
-
-
0033834486
-
Axenfeld-Rieger syndrome in the age of molecular genetics
-
Alward WL 2000 Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 130:107-115
-
(2000)
Am J Ophthalmol
, vol.130
, pp. 107-115
-
-
Alward, W.L.1
-
40
-
-
0036844682
-
Pax6; a pleiotropic player in development
-
Simpson TI, Price DJ 2002 Pax6; a pleiotropic player in development. Bioessays 24:1041-1051
-
(2002)
Bioessays
, vol.24
, pp. 1041-1051
-
-
Simpson, T.I.1
Price, D.J.2
-
41
-
-
0037739999
-
Polymicrogyria and absence of pineal gland due to PAX6 mutation
-
Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, Van Heyningen V, Sisodiya SM 2003 Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol 53:658-663
-
(2003)
Ann Neurol
, vol.53
, pp. 658-663
-
-
Mitchell, T.N.1
Free, S.L.2
Williamson, K.A.3
Stevens, J.M.4
Churchill, A.J.5
Hanson, I.M.6
Shorvon, S.D.7
Moore, A.T.8
Van Heyningen, V.9
Sisodiya, S.M.10
-
42
-
-
0032698040
-
Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6
-
Heyman I, Frampton I, van Heyningen V, Hanson I, Teague P, Taylor A, Simonoff E 1999 Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6. Psychiatr Genet 9:85-90
-
(1999)
Psychiatr Genet
, vol.9
, pp. 85-90
-
-
Heyman, I.1
Frampton, I.2
Van Heyningen, V.3
Hanson, I.4
Teague, P.5
Taylor, A.6
Simonoff, E.7
-
43
-
-
0034859738
-
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
-
Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli AM, Williamson K, van Heyningen V, Renieri A 2001 PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation Clin Genet 60:151-154
-
(2001)
Clin Genet
, vol.60
, pp. 151-154
-
-
Malandrini, A.1
Mari, F.2
Palmeri, S.3
Gambelli, S.4
Berti, G.5
Bruttini, M.6
Bardelli, A.M.7
Williamson, K.8
Van Heyningen, V.9
Renieri, A.10
-
44
-
-
0036091898
-
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance
-
Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M 2002 PAX6 mutation as a genetic factor common to aniridia and glucose intolerance Diabetes 51:224-230
-
(2002)
Diabetes
, vol.51
, pp. 224-230
-
-
Yasuda, T.1
Kajimoto, Y.2
Fujitani, Y.3
Watada, H.4
Yamamoto, S.5
Watarai, T.6
Umayahara, Y.7
Matsuhisa, M.8
Gorogawa, S.9
Kuwayama, Y.10
Tano, Y.11
Yamasaki, Y.12
Hori, M.13
-
45
-
-
0035545995
-
Pax6 lights-up the way for eye development
-
Ashery-Padan R, Gruss P 2001 Pax6 lights-up the way for eye development Curr Opin Cell Biol 13:706-714
-
(2001)
Curr Opin Cell Biol
, vol.13
, pp. 706-714
-
-
Ashery-Padan, R.1
Gruss, P.2
-
47
-
-
0036538038
-
Novel ENU-induced eye mutations in the mouse: Models for human eye disease
-
Thaung C, West K, Clark BJ, McKie L, Morgan JE, Arnold K, Nolan PM, Peters J, Hunter AJ, Brown SD, Jackson IJ, Cross SH 2002 Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet 11:755-767
-
(2002)
Hum Mol Genet
, vol.11
, pp. 755-767
-
-
Thaung, C.1
West, K.2
Clark, B.J.3
McKie, L.4
Morgan, J.E.5
Arnold, K.6
Nolan, P.M.7
Peters, J.8
Hunter, A.J.9
Brown, S.D.10
Jackson, I.J.11
Cross, S.H.12
-
48
-
-
0036805779
-
Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities
-
Baulmann DC, Ohlmann A, Flugel-Koch C, Goswami S, Cvekl A, Tamm ER 2002 Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities Mech Dev 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
-
49
-
-
0028999823
-
Quail Pax-6 (Pax-QNR) mRNAs are expressed from two promoters used differentially during retina development and neuronal differentiation
-
Plaza S, Dozier C, Turque N, Saule S 1995 Quail Pax-6 (Pax-QNR) mRNAs are expressed from two promoters used differentially during retina development and neuronal differentiation. Mol Cell Biol 15:3344-3353
-
(1995)
Mol Cell Biol
, vol.15
, pp. 3344-3353
-
-
Plaza, S.1
Dozier, C.2
Turque, N.3
Saule, S.4
-
50
-
-
0028893039
-
Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene
-
Plaza S, Dozier C, Langlois MC, 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
-
51
-
-
17144471991
-
A highly conserved lens transcriptional control element from the Pax-6 gene
-
Williams SC, Altmann CR, Chow RL, Hemmati-Brivanlou A, Lang RA 1998 A highly conserved lens transcriptional control element from the Pax-6 gene. Mech Dev 73:225-229
-
(1998)
Mech Dev
, vol.73
, pp. 225-229
-
-
Williams, S.C.1
Altmann, C.R.2
Chow, R.L.3
Hemmati-Brivanlou, A.4
Lang, R.A.5
-
52
-
-
0032942213
-
Regulation of Pax6 expression is conserved between mice and flies
-
Xu PX, Zhang X, Heaney S, Yoon A, Michelson AM, Maas RL 1999 Regulation of Pax6 expression is conserved between mice and flies. Development 26:383-395
-
(1999)
Development
, vol.26
, pp. 383-395
-
-
Xu, P.X.1
Zhang, X.2
Heaney, S.3
Yoon, A.4
Michelson, A.M.5
Maas, R.L.6
-
53
-
-
0032895297
-
Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity
-
205
-
Kammandel B, Chowdhury K, Stoykova A, Aparicio S, Brenner S, Gruss P 205 1999 Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity. Dev Biol 205:79-97
-
(1999)
Dev Biol
, vol.205
, pp. 79-97
-
-
Kammandel, B.1
Chowdhury, K.2
Stoykova, A.3
Aparicio, S.4
Brenner, S.5
Gruss, P.6
-
54
-
-
0034782502
-
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
-
Kleinjan DA, Seawright A, Schedl A, Quinlan RA, Danes S, van Heyningen V 2001 Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum Mol Genet 10:2049-2059
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2049-2059
-
-
Kleinjan, D.A.1
Seawright, A.2
Schedl, A.3
Quinlan, R.A.4
Danes, S.5
Van Heyningen, V.6
-
55
-
-
0036008319
-
New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
-
Griffin C, Kleinjan DA, Doe B, van Heyningen V 2002 New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region. Mech Dev 112:89-100
-
(2002)
Mech Dev
, vol.112
, pp. 89-100
-
-
Griffin, C.1
Kleinjan, D.A.2
Doe, B.3
Van Heyningen, V.4
-
56
-
-
0037102552
-
Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis
-
Zhang X, Friedman A, Heaney S, Purcell P, Maas RL 2002 Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis. Genes Dev 16:2097-2107
-
(2002)
Genes Dev
, vol.16
, pp. 2097-2107
-
-
Zhang, X.1
Friedman, A.2
Heaney, S.3
Purcell, P.4
Maas, R.L.5
-
57
-
-
0032417149
-
PAX6 intronic sequence targets expression to the spinal cord
-
Xu ZP, Saunders GF 1998 PAX6 intronic sequence targets expression to the spinal cord. Dev Genet 23:259-263
-
(1998)
Dev Genet
, vol.23
, pp. 259-263
-
-
Xu, Z.P.1
Saunders, G.F.2
-
58
-
-
0028907724
-
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
-
Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Mannens M, 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
Redeker, B.2
Breen, M.3
Boyle, S.4
Brown, J.5
Fletcher, J.6
Jones, S.7
Bickmore, W.8
Fukushima, Y.9
Mannens, M.10
Danes, S.11
Van Heyningen, V.12
Hanson, I.13
-
59
-
-
0034610337
-
3' deletions cause aniridia by preventing PAX6 gene expression
-
Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T 2000 3' deletions cause aniridia by preventing PAX6 gene expression Proc Natl Acad Sci USA 97:13755-13759
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 13755-13759
-
-
Lauderdale, J.D.1
Wilensky, J.S.2
Oliver, E.R.3
Walton, D.S.4
Glaser, T.5
-
60
-
-
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
-
61
-
-
0036148752
-
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance
-
Kleinjan DA, Seawright A, Elgar G, van Heyningen V 2002 Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance. Mamm Genome 13:102-107
-
(2002)
Mamm Genome
, vol.13
, pp. 102-107
-
-
Kleinjan, D.A.1
Seawright, A.2
Elgar, G.3
Van Heyningen, V.4
-
62
-
-
0035980015
-
RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes
-
Winkler GS, Petrakis TG, Ethelberg S, Tokunaga M, Erdjument-Bromage H, Tempst P, Svejstrup JQ 2001 RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes J Biol Chem 276:32743-32749
-
(2001)
J Biol Chem
, vol.276
, pp. 32743-32749
-
-
Winkler, G.S.1
Petrakis, T.G.2
Ethelberg, S.3
Tokunaga, M.4
Erdjument-Bromage, H.5
Tempst, P.6
Svejstrup, J.Q.7
-
63
-
-
0035195501
-
The upstream ectoderm enhancer in Pax6 has an important role in lens induction
-
Dimanlig PV, Faber SC, Auerbach W, Makarenkova HP, Lang RA 2001 The upstream ectoderm enhancer in Pax6 has an important role in lens induction. Development 128:4415-4424
-
(2001)
Development
, vol.128
, pp. 4415-4424
-
-
Dimanlig, P.V.1
Faber, S.C.2
Auerbach, W.3
Makarenkova, H.P.4
Lang, R.A.5
-
64
-
-
0036923833
-
Looping and interaction between hypersensitive sites in the active beta-globin locus
-
Tolhuis B, Palstra RJ, Splinter E, Grosveld F, de Laat W 2002 Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol Cell 10:1453-1465
-
(2002)
Mol Cell
, vol.10
, pp. 1453-1465
-
-
Tolhuis, B.1
Palstra, R.J.2
Splinter, E.3
Grosveld, F.4
De Laat, W.5
-
65
-
-
0036898580
-
Long-range chromatin regulatory interactions in vivo
-
Carter D, Chakalova L, Osborne CS, Dai YF, Fraser P 2002 Long-range chromatin regulatory interactions in vivo. Nat Genet 32:623-626
-
(2002)
Nat Genet
, vol.32
, pp. 623-626
-
-
Carter, D.1
Chakalova, L.2
Osborne, C.S.3
Dai, Y.F.4
Fraser, P.5
-
66
-
-
0033738874
-
Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6
-
Schwarz M, Cecconi F, Bernier G, Andrejewski N, Kammandel B, Wagner M, Gruss P 2000 Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6. Development 127:4325-4334
-
(2000)
Development
, vol.127
, pp. 4325-4334
-
-
Schwarz, M.1
Cecconi, F.2
Bernier, G.3
Andrejewski, N.4
Kammandel, B.5
Wagner, M.6
Gruss, P.7
-
67
-
-
0032804010
-
Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk
-
Jean D, Bernier G, Gruss P 1999 Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk. Mech Dev 84:31-40
-
(1999)
Mech Dev
, vol.84
, pp. 31-40
-
-
Jean, D.1
Bernier, G.2
Gruss, P.3
-
68
-
-
0037172981
-
Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype
-
Goudreau G, Petrou P, Reneker LW, Graw J, Loster J, Gruss P 2002 Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype. Proc Natl Acad Sci USA 99:8719-8724
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 8719-8724
-
-
Goudreau, G.1
Petrou, P.2
Reneker, L.W.3
Graw, J.4
Loster, J.5
Gruss, P.6
-
69
-
-
0037403778
-
Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene
-
Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K 2003 Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene Dev Biol 257:1-13
-
(2003)
Dev Biol
, vol.257
, pp. 1-13
-
-
Aota, S.1
Nakajima, N.2
Sakamoto, R.3
Watanabe, S.4
Ibaraki, N.5
Okazaki, K.6
-
70
-
-
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 2001 Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes Dev 15:1272-1286
-
(2001)
Genes Dev
, vol.15
, pp. 1272-1286
-
-
Kamachi, Y.1
Uchikawa, M.2
Tanouchi, A.3
Sekido, R.4
Kondoh, H.5
-
71
-
-
0344953586
-
Mutations in SOX2 cause anophthalmia
-
Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, Van Heyningen V, FitzPatrick DR 2003 Mutations in SOX2 cause anophthalmia. Nat Genet 33:461-463
-
(2003)
Nat Genet
, vol.33
, pp. 461-463
-
-
Fantes, J.1
Ragge, N.K.2
Lynch, S.A.3
McGill, N.I.4
Collin, J.R.5
Howard-Peebles, P.N.6
Hayward, C.7
Vivian, A.J.8
Williamson, K.9
Van Heyningen, V.10
FitzPatrick, D.R.11
-
72
-
-
0035815295
-
Pax6 is required for the multipotent state of retinal progenitor cells
-
Marquardt T, Ashery-Padan R, Andrejewski N, Scardigli R, Guillemot F, Gruss P 2001 Pax6 is required for the multipotent state of retinal progenitor cells. Cell 105:43-55
-
(2001)
Cell
, vol.105
, pp. 43-55
-
-
Marquardt, T.1
Ashery-Padan, R.2
Andrejewski, N.3
Scardigli, R.4
Guillemot, F.5
Gruss, P.6
-
73
-
-
0035283003
-
Regulation of c-maf gene expression by Pax6 in cultured cells
-
Sakai M, Serria MS, Ikeda H, Yoshida K, Imaki J, Nishi S 2001 Regulation of c-maf gene expression by Pax6 in cultured cells. Nucleic Acids Res 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
-
74
-
-
0028869811
-
Transcriptional regulation of the mouse alpha A-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 1995 Transcriptional regulation of the mouse alpha A-crystallin gene: activation dependent on a cyclic AMP-responsive element (DE1/CRE) and a Pax-6-binding site. Mol Cell Biol 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
-
75
-
-
0029013329
-
Pax-6 is essential for lens-specific expression of zeta-crystallin
-
Richardson J, Cvekl A, Wistow G 1995 Pax-6 is essential for lens-specific expression of zeta-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
-
76
-
-
0035929640
-
Interaction of Maf transcription factors with Pax-6 results in synergistic activation of the glucagon promoter
-
Planque N, Leconte L, Coquelle FM, Benkhelifa S, Martin P, Felder-Schmittbuhl MP, Saule S 2001 Interaction of Maf transcription factors with Pax-6 results in synergistic activation of the glucagon promoter. J Biol Chem 276:35751-35760
-
(2001)
J Biol Chem
, vol.276
, pp. 35751-35760
-
-
Planque, N.1
Leconte, L.2
Coquelle, F.M.3
Benkhelifa, S.4
Martin, P.5
Felder-Schmittbuhl, M.P.6
Saule, S.7
-
77
-
-
0031840442
-
Dual roles for Pax-6: A transcriptional repressor of lens fiber cell-specific beta-crystallin genes
-
Duncan MK, Haynes JI 2nd, Cvekl A, Piatigorsky J 1998 Dual roles for Pax-6: a transcriptional repressor of lens fiber cell-specific beta-crystallin genes. Mol Cell Biol 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
-
78
-
-
0034756862
-
Isolation and characterization of a downstream target of Pax6 in the mammalian retinal primordium
-
Bernier G, Vukovich W, Neidhardt L, Herrmann BG, Gruss P 2001 Isolation and characterization of a downstream target of Pax6 in the mammalian retinal primordium. Development 128:3987-3994
-
(2001)
Development
, vol.128
, pp. 3987-3994
-
-
Bernier, G.1
Vukovich, W.2
Neidhardt, L.3
Herrmann, B.G.4
Gruss, P.5
|