-
1
-
-
33750947173
-
Retinitis pigmentosa
-
Hartong, D.T., Berson, E.L. and Dryja, T.P. (2006) Retinitis pigmentosa. Lancet, 368, 1795-1809.
-
(2006)
Lancet
, vol.368
, pp. 1795-1809
-
-
Hartong, D.T.1
Berson, E.L.2
Dryja, T.P.3
-
2
-
-
0028789921
-
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
-
Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L. and Dryja, T.P. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat. Genet., 11, 468-471.
-
(1995)
Nat. Genet
, vol.11
, pp. 468-471
-
-
Huang, S.H.1
Pittler, S.J.2
Huang, X.3
Oliveira, L.4
Berson, E.L.5
Dryja, T.P.6
-
3
-
-
0027270053
-
Recessive mutations in the gene encoding the beta-subunit of rod phophodiesterase in patients with retinitis pigmentosa
-
McLaughlin, M.E., Sandberg, M.A., Berson, E.L. and Dryja, T.P. (1993) Recessive mutations in the gene encoding the beta-subunit of rod phophodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4, 130-134.
-
(1993)
Nat. Genet
, vol.4
, pp. 130-134
-
-
McLaughlin, M.E.1
Sandberg, M.A.2
Berson, E.L.3
Dryja, T.P.4
-
4
-
-
0033056620
-
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa
-
Dryja, T.P., Rucinski, D.E., Chen, S.H. and Berson, E.L. (1999) Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 40, 1859-1865.
-
(1999)
Invest. Ophthalmol. Vis. Sci
, vol.40
, pp. 1859-1865
-
-
Dryja, T.P.1
Rucinski, D.E.2
Chen, S.H.3
Berson, E.L.4
-
5
-
-
4344570624
-
Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma
-
Farber, D.B. and Tsang, S.H. (2003) Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma. Front. Biosci., 8, s666-s675.
-
(2003)
Front. Biosci
, vol.8
-
-
Farber, D.B.1
Tsang, S.H.2
-
6
-
-
0029740113
-
Retinal degeneration inmice lacking the gamma subunit of the rod cGMP phosphodiesterase
-
Tsang, S.H., Gouras, P., Yamashita, C.K., Kjeldbye, H., Fisher, J., Farber, D.B. and Goff, S.P. (1996) Retinal degeneration inmice lacking the gamma subunit of the rod cGMP phosphodiesterase. Science, 272, 1026-1029.
-
(1996)
Science
, vol.272
, pp. 1026-1029
-
-
Tsang, S.H.1
Gouras, P.2
Yamashita, C.K.3
Kjeldbye, H.4
Fisher, J.5
Farber, D.B.6
Goff, S.P.7
-
7
-
-
0002242647
-
Retinal degeneration in the mouse: Location of the rd locus in linkage group XVII
-
Sidman, R.L. and Green, M.C. (1965) Retinal degeneration in the mouse: location of the rd locus in linkage group XVII. J. Hered., 56, 23-29.
-
(1965)
J. Hered
, vol.56
, pp. 23-29
-
-
Sidman, R.L.1
Green, M.C.2
-
8
-
-
33846126652
-
Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene
-
Chang, B., Hawes, N.L., Pardue, M.T., German, A.M., Hurd, R.E., Davisson, M.T., Nusinowitz, S., Rengarajan, K., Boyd, A.P., Sidney, S.S. et al. (2007) Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res., 47, 624-633.
-
(2007)
Vision Res
, vol.47
, pp. 624-633
-
-
Chang, B.1
Hawes, N.L.2
Pardue, M.T.3
German, A.M.4
Hurd, R.E.5
Davisson, M.T.6
Nusinowitz, S.7
Rengarajan, K.8
Boyd, A.P.9
Sidney, S.S.10
-
9
-
-
27244441667
-
Genotype-phenotype correlation of mouse Pde6b mutations
-
Hart, A.W., McKie, L., Morgan, J.E., Gautier, P., West, K., Jackson, I.J. and Cross, S.H. (2005) Genotype-phenotype correlation of mouse Pde6b mutations. Invest. Ophthalmol. Vis. Sci., 46, 3443-3450.
-
(2005)
Invest. Ophthalmol. Vis. Sci
, vol.46
, pp. 3443-3450
-
-
Hart, A.W.1
McKie, L.2
Morgan, J.E.3
Gautier, P.4
West, K.5
Jackson, I.J.6
Cross, S.H.7
-
10
-
-
0015329852
-
Clinical aspects of progressive retinal atrophy in the Cardigan Welsh corgi
-
Keep, J.M. (1972) Clinical aspects of progressive retinal atrophy in the Cardigan Welsh corgi. Aus. Vet. J., 48, 197-199.
-
(1972)
Aus. Vet. J
, vol.48
, pp. 197-199
-
-
Keep, J.M.1
-
11
-
-
0032991252
-
cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog
-
Petersen-Jones, S.M., Entz, D.D. and Sargan, D.R. (1999) cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest. Ophthalmol. Vis. Sci., 40 1637-1644.
-
(1999)
Invest. Ophthalmol. Vis. Sci
, vol.40
, pp. 1637-1644
-
-
Petersen-Jones, S.M.1
Entz, D.D.2
Sargan, D.R.3
-
12
-
-
0025822525
-
Activation and solubilization of the retinal cGMP-specific phosphodiesterase by limited proteolysis. Role of the C-terminal domain of the beta-subunit
-
Catty, P. and Deterre, P. (1991) Activation and solubilization of the retinal cGMP-specific phosphodiesterase by limited proteolysis. Role of the C-terminal domain of the beta-subunit. Eur. J. Biochem., 15 263-269.
-
(1991)
Eur. J. Biochem
, vol.15
, pp. 263-269
-
-
Catty, P.1
Deterre, P.2
-
13
-
-
0029895341
-
Mechanism of photoreceptor cGMP phosphodiesterase inhibition by its gamma-subunits
-
Artemyev, N.O., Natochin, M., Busman, M., Schey, K.L. and Hamm, H.E. (1996) Mechanism of photoreceptor cGMP phosphodiesterase inhibition by its gamma-subunits. Proc. Natl Acad. Sci. USA, 93, 5407-5412.
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, pp. 5407-5412
-
-
Artemyev, N.O.1
Natochin, M.2
Busman, M.3
Schey, K.L.4
Hamm, H.E.5
-
14
-
-
0016295763
-
Cyclic guanosine monophosphate: Elevation in degenerating photoreceptor cells of the C3H mouse retina
-
Farber, D.B. and Lolley, R.N. (1974) Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina. Science, 186, 449-451.
-
(1974)
Science
, vol.186
, pp. 449-451
-
-
Farber, D.B.1
Lolley, R.N.2
-
15
-
-
0022475984
-
Genetic expression of cyclic GMP phosphodiesterase activity defines abnormal photoreceptor differentiation in neurological mutants of inherited retinal degeneration
-
Fletcher, R.T., Sanyal, S., Krishna, G., Aguirre, G. and Chader, G.J. (1986) Genetic expression of cyclic GMP phosphodiesterase activity defines abnormal photoreceptor differentiation in neurological mutants of inherited retinal degeneration. J. Neurochem., 46, 1240-1245.
-
(1986)
J. Neurochem
, vol.46
, pp. 1240-1245
-
-
Fletcher, R.T.1
Sanyal, S.2
Krishna, G.3
Aguirre, G.4
Chader, G.J.5
-
16
-
-
32944467645
-
Activation of multiple pathways during photoreceptor apoptosis in the rd mouse
-
Doonan, F., Donovan, M. and Cotter, T.G. (2005) Activation of multiple pathways during photoreceptor apoptosis in the rd mouse. Invest. Ophthalmol. Vis. Sci., 46, 3530-3538.
-
(2005)
Invest. Ophthalmol. Vis. Sci
, vol.46
, pp. 3530-3538
-
-
Doonan, F.1
Donovan, M.2
Cotter, T.G.3
-
17
-
-
4143051586
-
Calcium-induced calpain mediates apoptosis via caspase-3 in a mouse photoreceptor cell line
-
Sharma, A.K. and Rohrer, B. (2004) Calcium-induced calpain mediates apoptosis via caspase-3 in a mouse photoreceptor cell line. J. Biol. Chem., 279, 35564-35572.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 35564-35572
-
-
Sharma, A.K.1
Rohrer, B.2
-
18
-
-
0032575377
-
Simultaneous degradation of alphaII- and betaII-spectrin by caspase 3 (CPP32) in apoptotic cells
-
Wang, K.K., Posmantur, R., Nath, R., McGinnis, K., Whitton, M., Talanian, R.V., Glantz, S.B. and Morrow, J.S. (1998) Simultaneous degradation of alphaII- and betaII-spectrin by caspase 3 (CPP32) in apoptotic cells. J. Biol. Chem., 273, 22490-22497.
-
(1998)
J. Biol. Chem
, vol.273
, pp. 22490-22497
-
-
Wang, K.K.1
Posmantur, R.2
Nath, R.3
McGinnis, K.4
Whitton, M.5
Talanian, R.V.6
Glantz, S.B.7
Morrow, J.S.8
-
19
-
-
0026740992
-
Carriers of the mouse rd gene have reduced levels of the beta subunit of the retinal cyclic GMP phosphodiesterase
-
Cunnick, J. and Takemoto, D.J. (1992) Carriers of the mouse rd gene have reduced levels of the beta subunit of the retinal cyclic GMP phosphodiesterase. Biochem. Biophys. Res. Commun., 184, 461-466.
-
(1992)
Biochem. Biophys. Res. Commun
, vol.184
, pp. 461-466
-
-
Cunnick, J.1
Takemoto, D.J.2
-
20
-
-
29044433945
-
cGMP signaling in vertebrate retinal photoreceptor cells
-
Zhang, X. and Cote, R.H. (2005) cGMP signaling in vertebrate retinal photoreceptor cells. Front. Biosci., 10, 1191-1204.
-
(2005)
Front. Biosci
, vol.10
, pp. 1191-1204
-
-
Zhang, X.1
Cote, R.H.2
-
21
-
-
0041321268
-
Structure of the catalytic domain of human phosphodiesterase 5 with bound drug molecules
-
Sung, B.J., Hwang, K.Y., Jeon, Y.H., Lee, J.I., Heo, Y.S., Kim, J.H., Moon, J., Yoon, J.M., Hyun, Y.L., Kim, E. et al. (2003) Structure of the catalytic domain of human phosphodiesterase 5 with bound drug molecules. Nature, 425, 98-102.
-
(2003)
Nature
, vol.425
, pp. 98-102
-
-
Sung, B.J.1
Hwang, K.Y.2
Jeon, Y.H.3
Lee, J.I.4
Heo, Y.S.5
Kim, J.H.6
Moon, J.7
Yoon, J.M.8
Hyun, Y.L.9
Kim, E.10
-
22
-
-
0024333248
-
cGMP is tightly bound to bovine retinal rod phosphodiesterase
-
Gillespie, P.G. and Beavo, J.A. (1989) cGMP is tightly bound to bovine retinal rod phosphodiesterase. Proc. Natl Acad. Sci. USA, 86 4311-4315.
-
(1989)
Proc. Natl Acad. Sci. USA
, vol.86
, pp. 4311-4315
-
-
Gillespie, P.G.1
Beavo, J.A.2
-
23
-
-
0017104539
-
The effects of light and dark adaptation on the levels of cyclic nucleotides in retinas of mice heterozygous for a gene for photoreceptor dystrophy
-
Ferrendelli, J.A. and Cohen, A.I. (1976) The effects of light and dark adaptation on the levels of cyclic nucleotides in retinas of mice heterozygous for a gene for photoreceptor dystrophy. Biochem. Biophys. Res. Commun., 73, 421-427.
-
(1976)
Biochem. Biophys. Res. Commun
, vol.73
, pp. 421-427
-
-
Ferrendelli, J.A.1
Cohen, A.I.2
-
24
-
-
0022366450
-
Cyclic GMP in the retinas of normal mice and those heterozygous for early-onset photoreceptor dystrophy
-
Doshi, M., Voaden, M.J. and Arden, G.B. (1985) Cyclic GMP in the retinas of normal mice and those heterozygous for early-onset photoreceptor dystrophy. Exp. Eye Res., 41, 61-65.
-
(1985)
Exp. Eye Res
, vol.41
, pp. 61-65
-
-
Doshi, M.1
Voaden, M.J.2
Arden, G.B.3
-
25
-
-
4644256599
-
Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
-
Ramamurthy, V., Niemi, G.A., Reh, T.A. and Hurley, J.B. (2004) Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase. Proc. Natl Acad. Sci. USA 101, 13897-13902.
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 13897-13902
-
-
Ramamurthy, V.1
Niemi, G.A.2
Reh, T.A.3
Hurley, J.B.4
-
26
-
-
4644256600
-
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase
-
Liu, X., Bulgakov, O.V., Wen, X.H., Woodruff, M.L., Pawlyk, B., Yang, J., Fain, G.L., Sandberg, M.A., Makino, C.L. and Li, T. (2004) AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. Proc. Natl Acad. Sci. USA, 101, 13903-13908.
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 13903-13908
-
-
Liu, X.1
Bulgakov, O.V.2
Wen, X.H.3
Woodruff, M.L.4
Pawlyk, B.5
Yang, J.6
Fain, G.L.7
Sandberg, M.A.8
Makino, C.L.9
Li, T.10
-
27
-
-
0242331665
-
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins
-
Ramamurthy, V., Roberts, M., van den Akker, F., Niemi, G., Reh, T.A. and Hurley, J.B. (2003) AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Proc. Natl Acad. Sci. USA, 100, 12630-12635.
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 12630-12635
-
-
Ramamurthy, V.1
Roberts, M.2
van den Akker, F.3
Niemi, G.4
Reh, T.A.5
Hurley, J.B.6
-
28
-
-
0026570927
-
In vivo differential prenylation of retinal cyclic GMP phosphodiesterase catalytic subunits
-
Anant, J.S., Ong, O.C., Xie, H.Y., Clarke, S., O'Brien, P.J. and Fung, B.K. (1992) In vivo differential prenylation of retinal cyclic GMP phosphodiesterase catalytic subunits. J. Biol. Chem., 267, 687-690.
-
(1992)
J. Biol. Chem
, vol.267
, pp. 687-690
-
-
Anant, J.S.1
Ong, O.C.2
Xie, H.Y.3
Clarke, S.4
O'Brien, P.J.5
Fung, B.K.6
-
29
-
-
0028067153
-
Expression and mutagenesis of mouse rod photoreceptor cGMP phosphodiesterase
-
Qin, N. and Baehr, W. (1994) Expression and mutagenesis of mouse rod photoreceptor cGMP phosphodiesterase. J. Biol. Chem., 269, 3265-3271.
-
(1994)
J. Biol. Chem
, vol.269
, pp. 3265-3271
-
-
Qin, N.1
Baehr, W.2
-
30
-
-
0035933741
-
Light-induced photoreceptor apoptosis in vivo requires neuronal nitric-oxide synthase and guanylate cyclase activity and is caspase-3-independent
-
Donovan, M., Carmody, R.J. and Cotter, T.G. (2001) Light-induced photoreceptor apoptosis in vivo requires neuronal nitric-oxide synthase and guanylate cyclase activity and is caspase-3-independent. J. Biol. Chem., 276, 23000-23008.
-
(2001)
J. Biol. Chem
, vol.276
, pp. 23000-23008
-
-
Donovan, M.1
Carmody, R.J.2
Cotter, T.G.3
-
31
-
-
33645101078
-
Calpain is activated in degenerating photoreceptors in the rd1 mouse
-
Paquet-Durand, F., Azadi, S., Hauck, S.M., Ueffing, M., van Veen, T. and Ekström, P. (2006) Calpain is activated in degenerating photoreceptors in the rd1 mouse. J. Neurochem., 96, 802-814.
-
(2006)
J. Neurochem
, vol.96
, pp. 802-814
-
-
Paquet-Durand, F.1
Azadi, S.2
Hauck, S.M.3
Ueffing, M.4
van Veen, T.5
Ekström, P.6
-
32
-
-
33751239138
-
Apoptosis in retinal degeneration involves cross-talk between apoptosis-inducing factor (AIF) and caspase-12 and is blocked by calpain inhibitors
-
Sanges, D., Comitato, A., Tammaro, R. and Marigo, V. (2006) Apoptosis in retinal degeneration involves cross-talk between apoptosis-inducing factor (AIF) and caspase-12 and is blocked by calpain inhibitors. Proc. Natl Acad. Sci. USA, 103, 17366-17371.
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 17366-17371
-
-
Sanges, D.1
Comitato, A.2
Tammaro, R.3
Marigo, V.4
-
33
-
-
0021980329
-
Isolation of DNA from biological specimens without extraction with phenol
-
Buffone, G.J. and Darlington, G.J. (1985) Isolation of DNA from biological specimens without extraction with phenol. Clin. Chem., 31, 164-165.
-
(1985)
Clin. Chem
, vol.31
, pp. 164-165
-
-
Buffone, G.J.1
Darlington, G.J.2
-
34
-
-
0024709164
-
A mouse linkage testing stock possessing multiple copies of the endogenous ecotropic murine leukemia virus genome
-
Taylor, B.A. and Rowe, L. (1989) A mouse linkage testing stock possessing multiple copies of the endogenous ecotropic murine leukemia virus genome. Genomics, 5, 221-232.
-
(1989)
Genomics
, vol.5
, pp. 221-232
-
-
Taylor, B.A.1
Rowe, L.2
-
35
-
-
0027259126
-
Mutagenically separated PCR (MS-PCR): A highly specific one step procedure for easy mutation detection
-
Rust, S., Funke, H. and Assmann, G. (1993) Mutagenically separated PCR (MS-PCR): A highly specific one step procedure for easy mutation detection. Nucleic Acids Res., 21, 3623-3629.
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 3623-3629
-
-
Rust, S.1
Funke, H.2
Assmann, G.3
-
36
-
-
24944532170
-
Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases
-
Lee, Y., Kameya, S., Cox, G.A., Hsu, J., Hicks, W., Maddatu, T.P., Smith, R.S., Naggert, J.K., Peachey,N.S. and Nishina, P.M. (2005) Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol. Cell. Neurosci., 30, 160-172.
-
(2005)
Mol. Cell. Neurosci
, vol.30
, pp. 160-172
-
-
Lee, Y.1
Kameya, S.2
Cox, G.A.3
Hsu, J.4
Hicks, W.5
Maddatu, T.P.6
Smith, R.S.7
Naggert, J.K.8
Peachey, N.S.9
Nishina, P.M.10
|