-
1
-
-
0028309553
-
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
-
Stone, E.M., Nichols, B.E., Kimura, A.E., Weingeist, T.A., Drack, A., and Sheffield, V.C. 1994. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch. Ophthalmol. 6: 765-772.
-
(1994)
Arch. Ophthalmol.
, vol.6
, pp. 765-772
-
-
Stone, E.M.1
Nichols, B.E.2
Kimura, A.E.3
Weingeist, T.A.4
Drack, A.5
Sheffield, V.C.6
-
2
-
-
0033119609
-
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
-
Edwards, A.O., Miedziak, A., Vrabec, T., Verhoeven, J., Acott, T.S., Weleber, R.G., and Donoso, L.A. 1999. Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. Am. J. Ophthalmol. 4: 426-435.
-
(1999)
Am. J. Ophthalmol.
, vol.4
, pp. 426-435
-
-
Edwards, A.O.1
Miedziak, A.2
Vrabec, T.3
Verhoeven, J.4
Acott, T.S.5
Weleber, R.G.6
Donoso, L.A.7
-
3
-
-
0033987580
-
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci
-
Griesinger, I.B., Sieving, P.A., and Ayyagari. R. 2000. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol. Vis. Sci. 1: 248-255.
-
(2000)
Invest. Ophthalmol. Vis. Sci.
, vol.1
, pp. 248-255
-
-
Griesinger, I.B.1
Sieving, P.A.2
Ayyagari, R.3
-
4
-
-
0034436459
-
Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family
-
Lagali, P.S., MacDonald, I.M., Griesinger, I.B., Chambers, M.L., Ayyagari, R., and Wong, P.W. 2000. Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family. Can. J. Ophthalmol 6: 315-324.
-
(2000)
Can. J. Ophthalmol
, vol.6
, pp. 315-324
-
-
Lagali, P.S.1
MacDonald, I.M.2
Griesinger, I.B.3
Chambers, M.L.4
Ayyagari, R.5
Wong, P.W.6
-
5
-
-
0035168415
-
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
-
Zhang, K., Kniazeva, M., Han, M., Li, W., Yu, Z., Yang, Z., Li, Y., Metzker, M.L., Allikmets, R.. Zack. D.J., Kakuk, L.E., Lagali, P.S., Wong, P.W., MacDonald, I.M., Sieving, P.A., Figueroa, D.J., Austin, C.P., Gould, R.J.. Ayyagari, R., and Petrukhin, K. 2001. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat. Genet. 1: 89-93.
-
(2001)
Nat. Genet.
, vol.1
, pp. 89-93
-
-
Zhang, K.1
Kniazeva, M.2
Han, M.3
Li, W.4
Yu, Z.5
Yang, Z.6
Li, Y.7
Metzker, M.L.8
Allikmets, R.9
Zack, D.J.10
Kakuk, L.E.11
Lagali, P.S.12
Wong, P.W.13
MacDonald, I.M.14
Sieving, P.A.15
Figueroa, D.J.16
Austin, C.P.17
Gould, R.J.18
Ayyagari, R.19
Petrukhin, K.20
more..
-
6
-
-
0035650545
-
Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene
-
Bernstein, P.S., Tammur, J., Singh, N., Hutchinson, A., Dixon, M., Pappas, C.M., Zabriskie. N.A., Zhang, K., Petrukhin, K., Leppert, M., and Allikmets, R. 2001. Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene. Invest. Ophthalmol. Vis. Sci. 13: 3331-3336.
-
(2001)
Invest. Ophthalmol. Vis. Sci.
, vol.13
, pp. 3331-3336
-
-
Bernstein, P.S.1
Tammur, J.2
Singh, N.3
Hutchinson, A.4
Dixon, M.5
Pappas, C.M.6
Zabriskie, N.A.7
Zhang, K.8
Petrukhin, K.9
Leppert, M.10
Allikmets, R.11
-
7
-
-
0030878240
-
ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation
-
Oh C.S.. Toke, D.A., Mandala, S., and Martin, C.E., 1997. ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation. J. Biol. Chem. 28: 17376-17384.
-
(1997)
J. Biol. Chem.
, vol.28
, pp. 17376-17384
-
-
Oh, C.S.1
Toke, D.A.2
Mandala, S.3
Martin, C.E.4
-
8
-
-
0029774363
-
Isolation and characterization of a gene affecting fatty acid elongation in Saccharomyces cerevisiae
-
Toke, D.A. and Martin, C.E. 1996. Isolation and characterization of a gene affecting fatty acid elongation in Saccharomyces cerevisiae. J. Biol. Chem. 31: 18413-18422.
-
(1996)
J. Biol. Chem.
, vol.31
, pp. 18413-18422
-
-
Toke, D.A.1
Martin, C.E.2
-
9
-
-
0031438705
-
Cig30, a mouse member of a novel membrane protein gene family, is involved in the recruitment of brown adipose tissue
-
Tvrdik, P., Asadi, A., Kozak, L.P., Nedergaard, J., Cannon, B., and Jacobsson, A. 1997. Cig30, a mouse member of a novel membrane protein gene family. is involved in the recruitment of brown adipose tissue. J. Biol. Chem. 50: 31738-31746.
-
(1997)
J. Biol. Chem.
, vol.50
, pp. 31738-31746
-
-
Tvrdik, P.1
Asadi, A.2
Kozak, L.P.3
Nedergaard, J.4
Cannon, B.5
Jacobsson, A.6
-
10
-
-
0034193457
-
Role of a now mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids
-
Tvrdik, P., Westerberg, R., Silve, S.. Asadi, A., Jakobsson, A., Cannon, B., Loison, G., and Jacobsson, A. 2000. Role of a now mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids. J. Cell. Biol. 3: 707-718.
-
(2000)
J. Cell. Biol.
, vol.3
, pp. 707-718
-
-
Tvrdik, P.1
Westerberg, R.2
Silve, S.3
Asadi, A.4
Jakobsson, A.5
Cannon, B.6
Loison, G.7
Jacobsson, A.8
-
11
-
-
0018028477
-
Macular degeneration in rhesys monkey (Macaca mulatta)
-
El-Mofty, A., Gouras, P., Eisner, G., and Balazs, E.A. 1978. Macular degeneration in rhesys monkey (Macaca mulatta). Exp. Eye. Res. 4: 499-502.
-
(1978)
Exp. Eye. Res.
, vol.4
, pp. 499-502
-
-
El-Mofty, A.1
Gouras, P.2
Eisner, G.3
Balazs, E.A.4
-
12
-
-
0021361247
-
Spontaneous degenerative maculopathy in the monkey
-
Stafford, T.J., Anness, S.H., and Fine, B.S. 1984. Spontaneous degenerative maculopathy in the monkey. Ophthalmology 5: 513-521.
-
(1984)
Ophthalmology
, vol.5
, pp. 513-521
-
-
Stafford, T.J.1
Anness, S.H.2
Fine, B.S.3
-
13
-
-
0022590042
-
Pathogenesis of drusen in the primate
-
Ishibashi, T., Sorgente, N., Patterson, R., and Ryan, S.J. 1986. Pathogenesis of drusen in the primate. Invest. Ophthalmol. Vis. Sci. 2: 184-193.
-
(1986)
Invest. Ophthalmol. Vis. Sci.
, vol.2
, pp. 184-193
-
-
Ishibashi, T.1
Sorgente, N.2
Patterson, R.3
Ryan, S.J.4
-
14
-
-
0024382983
-
Macular disease in related rhesus monkeys
-
Dawson, W.W., Ulshafer, R.J., Engel, H.M., Hope, G.M., and Kessler, M.J. 1989. Macular disease in related rhesus monkeys. Doc. Ophthalmol. 3: 253-263.
-
(1989)
Doc. Ophthalmol.
, vol.3
, pp. 253-263
-
-
Dawson, W.W.1
Ulshafer, R.J.2
Engel, H.M.3
Hope, G.M.4
Kessler, M.J.5
-
15
-
-
0025040456
-
The rhesus monkey as an animal model for age-related maculopathy
-
Monaco, W.A. and Wormington, C.M. 1990. The rhesus monkey as an animal model for age-related maculopathy. Optom, Vis. Sci. 7: 532-537.
-
(1990)
Optom. Vis. Sci.
, vol.7
, pp. 532-537
-
-
Monaco, W.A.1
Wormington, C.M.2
-
16
-
-
0026528780
-
A primate model for age related macular drusen
-
Hope, G.M., Dawson, W.W., Engel, H.M., Ulshafer, R.J., Kessler, M.J., and Sherwood, M.B. 1992. A primate model for age related macular drusen. Br. J. Ophthalmol. 1: 11-16.
-
(1992)
Br. J. Ophthalmol.
, vol.1
, pp. 11-16
-
-
Hope, G.M.1
Dawson, W.W.2
Engel, H.M.3
Ulshafer, R.J.4
Kessler, M.J.5
Sherwood, M.B.6
-
17
-
-
0029922872
-
Studies on the mechanism of early onset macular degeneration in cynomolgus (Macaca fascicularis) monkeys. I. Abnormal concentrations of two proteins in the retina
-
Nicolas, M.G,, Fujiki, K., Murayama, K., Suzuki, M.T., Mineki, R., Hayakawa, M., Yoshikawa, Y., Cho, F., and Kanai, A. 1996. Studies on the mechanism of early onset macular degeneration in cynomolgus (Macaca fascicularis) monkeys. I. Abnormal concentrations of two proteins in the retina. Exp. Eye. Res. 3: 211-219.
-
(1996)
Exp. Eye. Res.
, vol.3
, pp. 211-219
-
-
Nicolas, M.G.1
Fujiki, K.2
Murayama, K.3
Suzuki, M.T.4
Mineki, R.5
Hayakawa, M.6
Yoshikawa, Y.7
Cho, F.8
Kanai, A.9
-
18
-
-
0029936705
-
Studies on tile mechanism of early onset macular degeneration in cynomolgus monkeys. II. Suppression of metallothionein synthesis in the retina in oxidative stress
-
Nicolas, M.G., Fujiki, K., Murayama, K., Suzuki, M.T., Shindo, N., Hotta, Y., Iwata, F., Fujimura, T., Yoshikawa, Y., Cho, F., and Kanai, A. 1996. Studies on tile mechanism of early onset macular degeneration in cynomolgus monkeys. II. Suppression of metallothionein synthesis in the retina in oxidative stress. Exp. Eye. Res. 4: 399-408.
-
(1996)
Exp. Eye. Res.
, vol.4
, pp. 399-408
-
-
Nicolas, M.G.1
Fujiki, K.2
Murayama, K.3
Suzuki, M.T.4
Shindo, N.5
Hotta, Y.6
Iwata, F.7
Fujimura, T.8
Yoshikawa, Y.9
Cho, F.10
Kanai, A.11
-
19
-
-
0028089687
-
Eight histidine residues are catalytically essential in a membrane-associated iron enzyme, stearoyl-CoA desaturase, and are conserved in alkane hydroxylase and xylene monooxygenase
-
Shanklin, J., Whittle, E., and Fox, B.G. 1994. Eight histidine residues are catalytically essential in a membrane-associated iron enzyme, stearoyl-CoA desaturase, and are conserved in alkane hydroxylase and xylene monooxygenase. Biochemistry 43: 12787-12794,
-
(1994)
Biochemistry
, vol.43
, pp. 12787-12794
-
-
Shanklin, J.1
Whittle, E.2
Fox, B.G.3
-
20
-
-
0025184422
-
Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum
-
Jackson, M.R., Nilsson, T., and Peterson, P.A. 1990. Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum. Embo J. 10: 3153-3162.
-
(1990)
Embo J.
, vol.10
, pp. 3153-3162
-
-
Jackson, M.R.1
Nilsson, T.2
Peterson, P.A.3
-
21
-
-
0026544667
-
The fatty acid chain elongation system of mammalian endoplasmic reticulum
-
Cinti, D.L., Cook, L., Nagi, M.N., and Suneja, S.K. 1992. The fatty acid chain elongation system of mammalian endoplasmic reticulum. Prog. Lipid. Res. 1: 1-51.
-
(1992)
Prog. Lipid. Res.
, vol.1
, pp. 1-51
-
-
Cinti, D.L.1
Cook, L.2
Nagi, M.N.3
Suneja, S.K.4
-
22
-
-
0023111228
-
A novel group of very long chain polyenoic fatty acids in dipolyunsaturated phosphatidylcholines from vertebrate retina
-
Aveldano, M.I. 1987. A novel group of very long chain polyenoic fatty acids in dipolyunsaturated phosphatidylcholines from vertebrate retina. J. Biol Chem. 3: 1172-1179.
-
(1987)
J. Biol. Chem.
, vol.3
, pp. 1172-1179
-
-
Aveldano, M.I.1
-
23
-
-
0023756573
-
Synthesis of very long chain (up to 36 carbon) tetra, penta and hexaenoic fatty acids in retina
-
Rotstein, N.P. and Aveldano, M.I. 1988. Synthesis of very long chain (up to 36 carbon) tetra, penta and hexaenoic fatty acids in retina. Biochem. J. 1: 191-200.
-
(1988)
Biochem. J.
, vol.1
, pp. 191-200
-
-
Rotstein, N.P.1
Aveldano, M.I.2
-
24
-
-
0028804614
-
Very long chain fatty acids in higher animals - A review
-
Poulos, A. 1995. Very long chain fatty acids in higher animals - a review. Lipids 1: 1-14.
-
(1995)
Lipids
, vol.1
, pp. 1-14
-
-
Poulos, A.1
-
25
-
-
0017577769
-
Lignoceric acid biosynthesis in the developing brain. Activities of mitochondrial acetyl-CoA-dependent synthesis and microsomal malonyl-CoA chain-elongating system in relation to myelination. Comparison between normal mouse and dysmyelinating mutants (quaking and jimpy)
-
Bourre, J.M., Paturneau-Jouas, M.Y., Daudu, O.L., and Baumann, N.A. 1977. Lignoceric acid biosynthesis in the developing brain. Activities of mitochondrial acetyl-CoA-dependent synthesis and microsomal malonyl-CoA chain-elongating system in relation to myelination. Comparison between normal mouse and dysmyelinating mutants (quaking and jimpy). Eur. J. Biochem. 1: 41-47.
-
(1977)
Eur. J. Biochem.
, vol.1
, pp. 41-47
-
-
Bourre, J.M.1
Paturneau-Jouas, M.Y.2
Daudu, O.L.3
Baumann, N.A.4
-
26
-
-
0026649802
-
Epidermal lipids
-
Wertz, P.W. 1992. Epidermal lipids. Semin. Dematol. 2: 106-113.
-
(1992)
Semin. Dematol.
, vol.2
, pp. 106-113
-
-
Wertz, P.W.1
-
27
-
-
0029816791
-
Retinal light damage in rats with altered levels of rod outer segment docosahexaenoate
-
Organisciak, D.T., Darrow, R.M., Jiang, Y.L., and Blanks, J.C. 1996. Retinal light damage in rats with altered levels of rod outer segment docosahexaenoate. Invest. Ophthalmol. Vis, Sci. 11: 2243-2257.
-
(1996)
Invest. Ophthalmol. Vis. Sci.
, vol.11
, pp. 2243-2257
-
-
Organisciak, D.T.1
Darrow, R.M.2
Jiang, Y.L.3
Blanks, J.C.4
-
28
-
-
0032894860
-
Effects of dietary n-3 fatty acid deficiency and repletion in the guinea pig retina
-
Weisinger, H.S., Vingrys, A.J., Bui, B.V., and Sinclair, A.J. 1999. Effects of dietary n-3 fatty acid deficiency and repletion in the guinea pig retina. Invest. Ophthalmol. Vis. Sci. 2: 327-338.
-
(1999)
Invest. Ophthalmol. Vis. Sci.
, vol.2
, pp. 327-338
-
-
Weisinger, H.S.1
Vingrys, A.J.2
Bui, B.V.3
Sinclair, A.J.4
-
29
-
-
0035166264
-
Protective effects of dietary docosahexaenoic acid against kainate-induced retinal degeneration in rats
-
Mizota, A., Sato, E., Taniai, M., Adachi-Usami, E., and Nishikawa, M. 2001. Protective effects of dietary docosahexaenoic acid against kainate-induced retinal degeneration in rats. Invest. Ophthalmol. Vis. Sci. 1: 216-221.
-
(2001)
Invest. Ophthalmol. Vis. Sci.
, vol.1
, pp. 216-221
-
-
Mizota, A.1
Sato, E.2
Taniai, M.3
Adachi-Usami, E.4
Nishikawa, M.5
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