-
1
-
-
0023917935
-
Lens crystallins: The evolution and expression of proteins for a highly specialized tissue
-
Wistow GJ, Piatigorsky J. Lens crystallins: the evolution and expression of proteins for a highly specialized tissue. Annu Rev Biochem 1988; 57:479-504.
-
(1988)
Annu Rev Biochem
, vol.57
, pp. 479-504
-
-
Wistow, G.J.1
Piatigorsky, J.2
-
2
-
-
0019485220
-
The molecular structure and stability of the eye lens: X-ray analysis of gamma-crystallin II
-
Blundell T, Lindley P, Miller L, Moss D, Slingsby C, Tickle I, Turnell B, Wistow G. The molecular structure and stability of the eye lens: x-ray analysis of gamma-crystallin II. Nature 1981; 289:771-7.
-
(1981)
Nature
, vol.289
, pp. 771-777
-
-
Blundell, T.1
Lindley, P.2
Miller, L.3
Moss, D.4
Slingsby, C.5
Tickle, I.6
Turnell, B.7
Wistow, G.8
-
3
-
-
0024452272
-
Crystallization of a new form of the eye lens protein beta B2-crystallin
-
Bax B, Slingsby C. Crystallization of a new form of the eye lens protein beta B2-crystallin. J Mol Biol 1989; 208:715-7.
-
(1989)
J Mol Biol
, vol.208
, pp. 715-717
-
-
Bax, B.1
Slingsby, C.2
-
4
-
-
0017835136
-
Structural studies on calf lens gamma-crystallin fraction IV: A comparison of the cysteine-containing tryptic peptides with the corresponding amino acid sequence of gamma-crystallin fraction II
-
Slingsby C, Croft LR. Structural studies on calf lens gamma-crystallin fraction IV: a comparison of the cysteine-containing tryptic peptides with the corresponding amino acid sequence of gamma-crystallin fraction II. Exp Eye Res 1978; 26:291-304.
-
(1978)
Exp Eye Res
, vol.26
, pp. 291-304
-
-
Slingsby, C.1
Croft, L.R.2
-
5
-
-
0030725582
-
The crystallins: Genes, proteins and diseases
-
Graw J. The crystallins: genes, proteins and diseases. Biol Chem 1997; 378:1331-48.
-
(1997)
Biol Chem
, vol.378
, pp. 1331-1348
-
-
Graw, J.1
-
6
-
-
0030066060
-
-
Tumminia SJ, Jonak GJ, Focht RJ, Cheng YS, Russell P. Cataractogenesis in transgenic mice containing the HIV-1 protease linked to the lens alpha A-crystallin promoter. J Biol Chem 1996; 271:425-31.
-
Tumminia SJ, Jonak GJ, Focht RJ, Cheng YS, Russell P. Cataractogenesis in transgenic mice containing the HIV-1 protease linked to the lens alpha A-crystallin promoter. J Biol Chem 1996; 271:425-31.
-
-
-
-
7
-
-
0023408704
-
Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens
-
Russell P, Meakin SO, Hohman TC, Tsui LC, Breitman ML. Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens. Mol Cell Biol 1987; 7:3320-3.
-
(1987)
Mol Cell Biol
, vol.7
, pp. 3320-3323
-
-
Russell, P.1
Meakin, S.O.2
Hohman, T.C.3
Tsui, L.C.4
Breitman, M.L.5
-
8
-
-
0025685505
-
Human gamma-crystallin genes. A gene family on its way to extinction
-
Brakenhoff RH, Aarts HJ, Reek FH, Lubsen NH, Schoenmakers JG. Human gamma-crystallin genes. A gene family on its way to extinction. J Mol Biol 1990; 216:519-32.
-
(1990)
J Mol Biol
, vol.216
, pp. 519-532
-
-
Brakenhoff, R.H.1
Aarts, H.J.2
Reek, F.H.3
Lubsen, N.H.4
Schoenmakers, J.G.5
-
9
-
-
0020678719
-
Short-range order of crystallin proteins accounts for eye lens transparency
-
Delaye M, Tardieu A. Short-range order of crystallin proteins accounts for eye lens transparency. Nature 1983; 302:415-7.
-
(1983)
Nature
, vol.302
, pp. 415-417
-
-
Delaye, M.1
Tardieu, A.2
-
11
-
-
0032792185
-
Clinical and genetic heterogeneity in autosomal dominant cataract
-
Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A. Clinical and genetic heterogeneity in autosomal dominant cataract. Br J Ophthalmol 1999; 83:802-8.
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 802-808
-
-
Ionides, A.1
Francis, P.2
Berry, V.3
Mackay, D.4
Bhattacharya, S.5
Shiels, A.6
Moore, A.7
-
12
-
-
0023568477
-
Quantitative detection of the molecular changes associated with early cataractogenesis in the living human lens using quasielastic light scattering
-
Benedek GB, Chylack LT Jr, Libondi T, Magnante P, Pennett M. Quantitative detection of the molecular changes associated with early cataractogenesis in the living human lens using quasielastic light scattering. Curr Eye Res 1987; 6:1421-32.
-
(1987)
Curr Eye Res
, vol.6
, pp. 1421-1432
-
-
Benedek, G.B.1
Chylack Jr, L.T.2
Libondi, T.3
Magnante, P.4
Pennett, M.5
-
13
-
-
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
-
14
-
-
0026570323
-
Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity
-
Lund AM, Eiberg H, Rosenberg T, Warburg M. Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity. Clin Genet 1992; 41:65-9.
-
(1992)
Clin Genet
, vol.41
, pp. 65-69
-
-
Lund, A.M.1
Eiberg, H.2
Rosenberg, T.3
Warburg, M.4
-
15
-
-
0030914095
-
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
-
Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 1997; 6:665-8.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 665-668
-
-
Litt, M.1
Carrero-Valenzuela, R.2
LaMorticella, D.M.3
Schultz, D.W.4
Mitchell, T.N.5
Kramer, P.6
Maumenee, I.H.7
-
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
-
-
0033986327
-
Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2
-
Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Heon E. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci 2000; 41:159-65.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 159-165
-
-
Gill, D.1
Klose, R.2
Munier, F.L.3
McFadden, M.4
Priston, M.5
Billingsley, G.6
Ducrey, N.7
Schorderet, D.F.8
Heon, E.9
-
18
-
-
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
-
19
-
-
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 MI. 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.I.14
-
20
-
-
0037000762
-
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts
-
Hilal L, Nandrot E, Belmekki M, Chefchaouni M, El Bacha S, Benazzouz B, Hajaji Y, Gribouval O, Dufier J, Abitbol M, Berraho A. Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. Ophthalmic Genet 2002; 23:199-208.
-
(2002)
Ophthalmic Genet
, vol.23
, pp. 199-208
-
-
Hilal, L.1
Nandrot, E.2
Belmekki, M.3
Chefchaouni, M.4
El Bacha, S.5
Benazzouz, B.6
Hajaji, Y.7
Gribouval, O.8
Dufier, J.9
Abitbol, M.10
Berraho, A.11
-
21
-
-
0025301584
-
Morphology of the aging human lens. II. Ultrastructure of clear lenses
-
Vrensen G. Kappelhof J, Willekens B. Morphology of the aging human lens. II. Ultrastructure of clear lenses. Lens Eye Toxic Res 1990; 7:1-30.
-
(1990)
Lens Eye Toxic Res
, vol.7
, pp. 1-30
-
-
Vrensen, G.1
Kappelhof, J.2
Willekens, B.3
-
22
-
-
0020064030
-
Genetics of cataract
-
Francois J. Genetics of cataract. Ophthalmologica 1982; 184:61-71.
-
(1982)
Ophthalmologica
, vol.184
, pp. 61-71
-
-
Francois, J.1
-
23
-
-
0015098191
-
The etiology of congenital cataracts. A survey of 386 cases
-
Merin S, Crawford JS. The etiology of congenital cataracts. A survey of 386 cases. Can J Ophthalmol 1971; 6:178-82.
-
(1971)
Can J Ophthalmol
, vol.6
, pp. 178-182
-
-
Merin, S.1
Crawford, J.S.2
-
24
-
-
0024397438
-
Lens opacities classification system II (LOCS II)
-
Chylack LT Jr, Leske MC, McCarthy D, Khu P, Kashiwagi T, Sperduto R. Lens opacities classification system II (LOCS II). Arch Ophthalmol 1989; 107:991-7.
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 991-997
-
-
Chylack Jr, L.T.1
Leske, M.C.2
McCarthy, D.3
Khu, P.4
Kashiwagi, T.5
Sperduto, R.6
-
25
-
-
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
-
27
-
-
9244251074
-
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35
-
Rogaev EI, Rogaeva EA. Korovaitseva GI, Farrer LA, Petrin AN, Keryanov SA, Turaeva S, Chumakov I, St George-Hyslop P, Ginter EK. Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet 1996; 5:699-703.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 699-703
-
-
Rogaev, E.I.1
Rogaeva, E.A.2
Korovaitseva, G.I.3
Farrer, L.A.4
Petrin, A.N.5
Keryanov, S.A.6
Turaeva, S.7
Chumakov, I.8
St George-Hyslop, P.9
Ginter, E.K.10
-
28
-
-
4644325844
-
The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin
-
Evans P, Wyatt K, Wistow GJ, Bateman OA, Wallace BA, Shingsby C. The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin. J Mol Biol 2004; 343:435-44.
-
(2004)
J Mol Biol
, vol.343
, pp. 435-444
-
-
Evans, P.1
Wyatt, K.2
Wistow, G.J.3
Bateman, O.A.4
Wallace, B.A.5
Shingsby, C.6
-
30
-
-
0043122919
-
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-4.
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-4.
-
-
-
-
31
-
-
1842452643
-
A missense mutation in the gammaD 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 gammaD 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
-
32
-
-
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
-
33
-
-
0034045990
-
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
-
Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet 2000; 106:531-7.
-
(2000)
Hum Genet
, vol.106
, pp. 531-537
-
-
Ren, Z.1
Li, A.2
Shastry, B.S.3
Padma, T.4
Ayyagari, R.5
Scott, M.H.6
Parks, M.M.7
Kaiser-Kupfer, M.I.8
Hejtmancik, J.F.9
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