-
2
-
-
1942468794
-
Molecular genetic basis of inherited cataract and associated phenotypes
-
Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49:300-15.
-
(2004)
Surv Ophthalmol
, vol.49
, pp. 300-315
-
-
Reddy, M.A.1
Francis, P.J.2
Berry, V.3
Bhattacharya, S.S.4
Moore, A.T.5
-
3
-
-
33645743662
-
Gregg Lecture: Congenital cataract - from rubella to genetics
-
Mackey DA. 2005 Gregg Lecture: Congenital cataract - from rubella to genetics. Clin Experiment Ophthalmol 2006; 34:199-207.
-
(2005)
Clin Experiment Ophthalmol 2006
, vol.34
, pp. 199-207
-
-
Mackey, D.A.1
-
4
-
-
0035253581
-
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
-
Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001; 10:231-6.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 231-236
-
-
Semina, E.V.1
Brownell, I.2
Mintz-Hittner, H.A.3
Murray, J.C.4
Jamrich, M.5
-
5
-
-
0034639683
-
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
-
Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 2000; 9:363-6.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 363-366
-
-
Azuma, N.1
Hirakiyama, A.2
Inoue, T.3
Asaka, A.4
Yamada, M.5
-
6
-
-
34248376062
-
Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis
-
Yam GH, Gaplovska-Kysela K, Zuber C, Roth J. Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis. Invest Ophthalmol Vis Sci 2007; 48:1683-90.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 1683-1690
-
-
Yam, G.H.1
Gaplovska-Kysela, K.2
Zuber, C.3
Roth, J.4
-
7
-
-
13044250483
-
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene
-
Stephan DA, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD, Robbins CM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH, Trent JM, Smith L, Brownstein MJ. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A 1999; 96:1008-12.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 1008-1012
-
-
Stephan, D.A.1
Gillanders, E.2
Vanderveen, D.3
Freas-Lutz, D.4
Wistow, G.5
Baxevanis, A.D.6
Robbins, C.M.7
VanAuken, A.8
Quesenberry, M.I.9
Bailey-Wilson, J.10
Juo, S.H.11
Trent, J.M.12
Smith, L.13
Brownstein, M.J.14
-
8
-
-
30444454663
-
A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family
-
Gu F, Li R, Ma XX, Shi LS, Huang SZ, Ma X. A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis 2006; 12:26-31.
-
(2006)
Mol Vis
, vol.12
, pp. 26-31
-
-
Gu, F.1
Li, R.2
Ma, X.X.3
Shi, L.S.4
Huang, S.Z.5
Ma, X.6
-
9
-
-
0036093256
-
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts
-
Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalakshmi P, Namperumalsamy P, Gopinath PM, Loster J, Graw J. Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. J Med Genet 2002; 39:352-8.
-
(2002)
J Med Genet
, vol.39
, pp. 352-358
-
-
Santhiya, S.T.1
Shyam Manohar, M.2
Rawlley, D.3
Vijayalakshmi, P.4
Namperumalsamy, P.5
Gopinath, P.M.6
Loster, J.7
Graw, J.8
-
10
-
-
0037390818
-
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts
-
Nandrot E, Slingsby C, Basak A, Cherif-Chefchaouni M, Benazzouz B, Hajaji Y, Boutayeb S, Gribouval O, Arbogast L, Berraho A, Abitbol M, Hilal L. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet 2003; 40:262-7.
-
(2003)
J Med Genet
, vol.40
, pp. 262-267
-
-
Nandrot, E.1
Slingsby, C.2
Basak, A.3
Cherif-Chefchaouni, M.4
Benazzouz, B.5
Hajaji, Y.6
Boutayeb, S.7
Gribouval, O.8
Arbogast, L.9
Berraho, A.10
Abitbol, M.11
Hilal, L.12
-
11
-
-
0347755354
-
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
-
Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol 2004; 88:79-83.
-
(2004)
Br J Ophthalmol
, vol.88
, pp. 79-83
-
-
Burdon, K.P.1
Wirth, M.G.2
Mackey, D.A.3
Russell-Eggitt, I.M.4
Craig, J.E.5
Elder, J.E.6
Dickinson, J.L.7
Sale, M.M.8
-
12
-
-
2342655780
-
Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene
-
Shentu X, Yao K, Xu W, Zheng S, Hu S, Gong X. Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene. Mol Vis 2004; 10:233-9.
-
(2004)
Mol Vis
, vol.10
, pp. 233-239
-
-
Shentu, X.1
Yao, K.2
Xu, W.3
Zheng, S.4
Hu, S.5
Gong, X.6
-
13
-
-
1842452643
-
A missense mutation in the ganunaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q
-
Mackay DS, Andley UP, Shiels A. A missense mutation in the ganunaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. Mol Vis 2004; 10:155-62.
-
(2004)
Mol Vis
, vol.10
, pp. 155-162
-
-
Mackay, D.S.1
Andley, U.P.2
Shiels, A.3
-
14
-
-
0033862351
-
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography
-
Kmoch S, Brynda J, Asfaw B, Bezouska K, Novak P, Rezacova P, Ondrova. L, Filipec M, Sedlacek J, Elleder M. Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet 2000; 9:1779-86.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1779-1786
-
-
Kmoch, S.1
Brynda, J.2
Asfaw, B.3
Bezouska, K.4
Novak, P.5
Rezacova, P.6
Ondrova, L.7
Filipec, M.8
Sedlacek, J.9
Elleder, M.10
-
15
-
-
27944431705
-
A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family
-
Gu J, Qi Y, Wang L, Wang J, Shi L, Lin H, Li X, Su H, Huang S. A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family. Mol Vis 2005; 11:971-6.
-
(2005)
Mol Vis
, vol.11
, pp. 971-976
-
-
Gu, J.1
Qi, Y.2
Wang, L.3
Wang, J.4
Shi, L.5
Lin, H.6
Li, X.7
Su, H.8
Huang, S.9
-
16
-
-
0033358423
-
The gamma-crystallins and human cataracts: A puzzle made clearer
-
Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL. The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet 1999; 65:1261-7.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1261-1267
-
-
Heon, E.1
Priston, M.2
Schorderet, D.F.3
Billingsley, G.D.4
Girard, P.O.5
Lubsen, N.6
Munier, F.L.7
-
17
-
-
26244431738
-
CRYGD gene analysis in a family with autosomal dominant congenital cataract: Evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract
-
Zenteno JC, Morales ME, Moran-Barroso V, Sanchez-Navarro A. CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract. Mol Vis 2005; 11:438-42.
-
(2005)
Mol Vis
, vol.11
, pp. 438-442
-
-
Zenteno, J.C.1
Morales, M.E.2
Moran-Barroso, V.3
Sanchez-Navarro, A.4
-
18
-
-
33747832463
-
Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene
-
Messina-Baas OM, Gonzalez-Huerta LM, Cuevas-Covarrubias SA. Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene. Mol Vis 2006; 12:995-1000.
-
(2006)
Mol Vis
, vol.12
, pp. 995-1000
-
-
Messina-Baas, O.M.1
Gonzalez-Huerta, L.M.2
Cuevas-Covarrubias, S.A.3
-
19
-
-
0036677083
-
mRNA surveillance: The perfect persist
-
Wagner E, Lykke-Andersen J. mRNA surveillance: the perfect persist. J Cell Sci 2002; 115:3033-8.
-
(2002)
J Cell Sci
, vol.115
, pp. 3033-3038
-
-
Wagner, E.1
Lykke-Andersen, J.2
-
20
-
-
13944249950
-
A new function for nonsense-mediated mRNA-decay factors
-
Wilkinson MF. A new function for nonsense-mediated mRNA-decay factors. Trends Genet 2005; 21:143-8.
-
(2005)
Trends Genet
, vol.21
, pp. 143-148
-
-
Wilkinson, M.F.1
-
21
-
-
14144250992
-
Contributions of hydrophobic domain interface interactions to the folding and stability of human gammaD-crystallin
-
Flaugh SL, Kosinski-Collins MS, King J. Contributions of hydrophobic domain interface interactions to the folding and stability of human gammaD-crystallin. Protein Sci 2005; 14:569-81.
-
(2005)
Protein Sci
, vol.14
, pp. 569-581
-
-
Flaugh, S.L.1
Kosinski-Collins, M.S.2
King, J.3
-
22
-
-
23644457960
-
Interdomain side-chain interactions in human gammaD crystallin influencing folding and stability
-
Flaugh SL, Kosinski-Collins MS, King J. Interdomain side-chain interactions in human gammaD crystallin influencing folding and stability. Protein Sci 2005; 14:2030-43.
-
(2005)
Protein Sci
, vol.14
, pp. 2030-2043
-
-
Flaugh, S.L.1
Kosinski-Collins, M.S.2
King, J.3
-
23
-
-
3342948291
-
Probing folding and fluorescence quenching in human gammaD crystallin Greek key domains using triple tryptophan mutant proteins
-
Kosinski-Collins MS, Flaugh SL, King J. Probing folding and fluorescence quenching in human gammaD crystallin Greek key domains using triple tryptophan mutant proteins. Protein Sci 2004; 13:223-35.
-
(2004)
Protein Sci
, vol.13
, pp. 223-235
-
-
Kosinski-Collins, M.S.1
Flaugh, S.L.2
King, J.3
-
24
-
-
0034050880
-
Molecular basis of a progressive juvenile-onset hereditary cataract
-
Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King JA, Lubsen NH, Walton D, Benedek GB. Molecular basis of a progressive juvenile-onset hereditary cataract. Proc Natl Acad Sci U S A 2000; 97:199-8.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 199-198
-
-
Pande, A.1
Pande, J.2
Asherie, N.3
Lomakin, A.4
Ogun, O.5
King, J.A.6
Lubsen, N.H.7
Walton, D.8
Benedek, G.B.9
-
25
-
-
4644325844
-
The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin
-
Evans P, Wyatt K, Wistow GJ, Bateman OA, Wallace BA, Slingsby C. The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin. J Mol Biol 2064; 343:435-44.
-
(2064)
J Mol Biol
, Issue.343
, pp. 435-444
-
-
Evans, P.1
Wyatt, K.2
Wistow, G.J.3
Bateman, O.A.4
Wallace, B.A.5
Slingsby, C.6
-
26
-
-
14044262967
-
-
Pande A, Annunziata O, Asherie N, Ogun O, Benedek GB, Pande J. Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in humah gamma D-crystallin. Biochemistry 2005; 44:2491-500.
-
Pande A, Annunziata O, Asherie N, Ogun O, Benedek GB, Pande J. Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in humah gamma D-crystallin. Biochemistry 2005; 44:2491-500.
-
-
-
-
27
-
-
0037449145
-
High-resolution X-ray crystal structures of human gammaD crystallin (125 A) and the R58H mutant (1.15 A) associated with aculeiform cataract
-
Basak A, Bateman O, Slingsby C, Pande A, Asherie N, Ogun O, Benedek GB, Pande J. High-resolution X-ray crystal structures of human gammaD crystallin (125 A) and the R58H mutant (1.15 A) associated with aculeiform cataract. J Mol Biol 2003; 328:1137-47.
-
(2003)
J Mol Biol
, vol.328
, pp. 1137-1147
-
-
Basak, A.1
Bateman, O.2
Slingsby, C.3
Pande, A.4
Asherie, N.5
Ogun, O.6
Benedek, G.B.7
Pande, J.8
-
28
-
-
0035933113
-
Crystal cataracts: Human genetic cataract caused by protein crystallization
-
Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King J, Benedek GB. Crystal cataracts: human genetic cataract caused by protein crystallization. Proc Natl Acad Sci U S A 2001; 98:6416-20.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 6416-6420
-
-
Pande, A.1
Pande, J.2
Asherie, N.3
Lomakin, A.4
Ogun, O.5
King, J.6
Benedek, G.B.7
-
29
-
-
34648813925
-
GammaD-crystallin associated protein aggregation and lens fiber cell denucleation
-
Wang K, Cheng C, Li L, Liu H, Huang Q, Xia CH, Yao K, Sun P, Horwitz J, Gong X. GammaD-crystallin associated protein aggregation and lens fiber cell denucleation. Invest Ophthalmol Vis Sci 2007; 48:3719-28.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 3719-3728
-
-
Wang, K.1
Cheng, C.2
Li, L.3
Liu, H.4
Huang, Q.5
Xia, C.H.6
Yao, K.7
Sun, P.8
Horwitz, J.9
Gong, X.10
-
30
-
-
0014716444
-
Terminal lens cell differentiation. I. Histological and microspectrophotometric analysis of nuclear degeneration
-
Modak SP, Perdue SW Terminal lens cell differentiation. I. Histological and microspectrophotometric analysis of nuclear degeneration. Exp Cell Res 1970; 59:43-56.
-
(1970)
Exp Cell Res
, vol.59
, pp. 43-56
-
-
Modak, S.P.1
Perdue, S.W.2
-
32
-
-
0345275452
-
Lens fiber differentiation and gamma crystallins: Immunofluorescent study of wolffian regeneration
-
Takata C, Albright JF, Yamada T. Lens fiber differentiation and gamma crystallins: immunofluorescent study of wolffian regeneration. Science 1965; 147:1299-301.
-
(1965)
Science
, vol.147
, pp. 1299-1301
-
-
Takata, C.1
Albright, J.F.2
Yamada, T.3
|