-
1
-
-
20144382218
-
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
-
S. Kohl, B. Varsanyi, and G.A. Antunes CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia Eur J Hum Genet 13 3 2005 302 308
-
(2005)
Eur J Hum Genet
, vol.13
, Issue.3
, pp. 302-308
-
-
Kohl, S.1
Varsanyi, B.2
Antunes, G.A.3
-
2
-
-
0034822311
-
CNGA3 mutations in hereditary cone photoreceptor disorders
-
B. Wissinger, D. Gamer, and H. Jagle CNGA3 mutations in hereditary cone photoreceptor disorders Am J Hum Genet 69 4 2001 722 737
-
(2001)
Am J Hum Genet
, vol.69
, Issue.4
, pp. 722-737
-
-
Wissinger, B.1
Gamer, D.2
Jagle, H.3
-
3
-
-
84859612115
-
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia
-
J.J. Pang, W.T. Deng, and X. Dai AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia PLoS One 7 4 2012 e35250
-
(2012)
PLoS One
, vol.7
, Issue.4
, pp. 35250
-
-
Pang, J.J.1
Deng, W.T.2
Dai, X.3
-
4
-
-
84855926075
-
Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia
-
S. Michalakis, R. Muhlfriedel, and N. Tanimoto Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia Adv Exp Med Biol 723 2012 183 189
-
(2012)
Adv Exp Med Biol
, vol.723
, pp. 183-189
-
-
Michalakis, S.1
Muhlfriedel, R.2
Tanimoto, N.3
-
5
-
-
78650918670
-
Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function
-
S. Michalakis, R. Muhlfriedel, and N. Tanimoto Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function Mol Ther 18 12 2010 2057 2063
-
(2010)
Mol Ther
, vol.18
, Issue.12
, pp. 2057-2063
-
-
Michalakis, S.1
Muhlfriedel, R.2
Tanimoto, N.3
-
6
-
-
79960832400
-
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
-
L.S. Carvalho, J. Xu, and R.A. Pearson Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy Hum Mol Genet 20 16 15 2011 3161 3175
-
(2011)
Hum Mol Genet
, vol.20
, Issue.16
, pp. 3161-3175
-
-
Carvalho, L.S.1
Xu, J.2
Pearson, R.A.3
-
7
-
-
77954166401
-
Gene therapy rescues cone function in congenital achromatopsia
-
A.M. Komaromy, J.J. Alexander, and J.S. Rowlan Gene therapy rescues cone function in congenital achromatopsia Hum Mol Genet 1 19 13 2010 2581 2593
-
(2010)
Hum Mol Genet 1
, vol.19
, Issue.13
, pp. 2581-2593
-
-
Komaromy, A.M.1
Alexander, J.J.2
Rowlan, J.S.3
-
8
-
-
84866089135
-
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia
-
M.G. Thomas, R.J. McLean, S. Kohl, V. Sheth, and I. Gottlob Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia Br J Ophthalmol 96 9 11 2012 1232 1236
-
(2012)
Br J Ophthalmol
, vol.96
, Issue.9
, pp. 1232-1236
-
-
Thomas, M.G.1
McLean, R.J.2
Kohl, S.3
Sheth, V.4
Gottlob, I.5
-
9
-
-
79953735748
-
Progressive loss of cones in achromatopsia: An imaging study using spectral-domain optical coherence tomography
-
A.A. Thiadens, V. Somervuo, and L.I. van den Born Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography Invest Ophthalmol Vis Sci 51 11 2010 5952 5957
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, Issue.11
, pp. 5952-5957
-
-
Thiadens, A.A.1
Somervuo, V.2
Van Den Born, L.I.3
-
10
-
-
34648825477
-
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
-
N.W. Khan, B. Wissinger, S. Kohl, and P.A. Sieving CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function Invest Ophthalmol Vis Sci 48 8 2007 3864 3871
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, Issue.8
, pp. 3864-3871
-
-
Khan, N.W.1
Wissinger, B.2
Kohl, S.3
Sieving, P.A.4
-
11
-
-
84856401869
-
Photoreceptor structure and function in patients with congenital achromatopsia
-
M.A. Genead, G.A. Fishman, and J. Rha Photoreceptor structure and function in patients with congenital achromatopsia Invest Ophthalmol Vis Sci 52 10 2011 7298 7308
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, Issue.10
, pp. 7298-7308
-
-
Genead, M.A.1
Fishman, G.A.2
Rha, J.3
-
12
-
-
68349100283
-
Genetic etiology and clinical consequences of complete and incomplete achromatopsia
-
e1981
-
A.A. Thiadens, N.W. Slingerland, and S. Roosing Genetic etiology and clinical consequences of complete and incomplete achromatopsia Ophthalmology 116 10 2009 1984 1989 e1981
-
(2009)
Ophthalmology
, vol.116
, Issue.10
, pp. 1984-1989
-
-
Thiadens, A.A.1
Slingerland, N.W.2
Roosing, S.3
-
13
-
-
79955595048
-
High-resolution in vivo imaging in achromatopsia
-
M.G. Thomas, A. Kumar, S. Kohl, F.A. Proudlock, and I. Gottlob High-resolution in vivo imaging in achromatopsia Ophthalmology 118 5 2011 882 887
-
(2011)
Ophthalmology
, vol.118
, Issue.5
, pp. 882-887
-
-
Thomas, M.G.1
Kumar, A.2
Kohl, S.3
Proudlock, F.A.4
Gottlob, I.5
-
14
-
-
40449094820
-
Fundus autofluorescence imaging: Review and perspectives
-
S. Schmitz-Valckenberg, F.G. Holz, A.C. Bird, and R.F. Spaide Fundus autofluorescence imaging: review and perspectives Retina 28 3 2008 385 409
-
(2008)
Retina
, vol.28
, Issue.3
, pp. 385-409
-
-
Schmitz-Valckenberg, S.1
Holz, F.G.2
Bird, A.C.3
Spaide, R.F.4
-
15
-
-
84862884600
-
Foveal cavitation as an optical coherence tomography finding in central cone dysfunction
-
T. Leng, M.F. Marmor, and U. Kellner Foveal cavitation as an optical coherence tomography finding in central cone dysfunction Retina 32 7 2012 1411 1419
-
(2012)
Retina
, vol.32
, Issue.7
, pp. 1411-1419
-
-
Leng, T.1
Marmor, M.F.2
Kellner, U.3
-
16
-
-
0031803762
-
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
-
S. Kohl, T. Marx, and I. Giddings Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel Nat Genet 19 3 1998 257 259
-
(1998)
Nat Genet
, vol.19
, Issue.3
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
-
17
-
-
0034284696
-
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
-
S. Kohl, B. Baumann, and M. Broghammer Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21 Hum Mol Genet 9 14 2000 2107 2116
-
(2000)
Hum Mol Genet
, vol.9
, Issue.14
, pp. 2107-2116
-
-
Kohl, S.1
Baumann, B.2
Broghammer, M.3
-
18
-
-
3042839168
-
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus
-
N. Lois, A.S. Halfyard, A.C. Bird, G.E. Holder, and F.W. Fitzke Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus Am J Ophthalmol 138 1 2004 55 63
-
(2004)
Am J Ophthalmol
, vol.138
, Issue.1
, pp. 55-63
-
-
Lois, N.1
Halfyard, A.S.2
Bird, A.C.3
Holder, G.E.4
Fitzke, F.W.5
-
19
-
-
0036068733
-
Clinical features of achromatopsia in Swedish patients with defined genotypes
-
L. Eksandh, S. Kohl, and B. Wissinger Clinical features of achromatopsia in Swedish patients with defined genotypes Ophthalmic Genet 23 2 2002 109 120
-
(2002)
Ophthalmic Genet
, vol.23
, Issue.2
, pp. 109-120
-
-
Eksandh, L.1
Kohl, S.2
Wissinger, B.3
-
20
-
-
0033932760
-
Genetic basis of total colourblindness among the Pingelapese islanders
-
O.H. Sundin, J.M. Yang, and Y. Li Genetic basis of total colourblindness among the Pingelapese islanders Nat Genet 25 3 2000 289 293
-
(2000)
Nat Genet
, vol.25
, Issue.3
, pp. 289-293
-
-
Sundin, O.H.1
Yang, J.M.2
Li, Y.3
-
21
-
-
70349739312
-
Fundus autofluorescence in cone dystrophy
-
N.K. Wang, C.L. Chou, and L.H. Lima Fundus autofluorescence in cone dystrophy Doc Ophthalmol 119 2 2009 141 144
-
(2009)
Doc Ophthalmol
, vol.119
, Issue.2
, pp. 141-144
-
-
Wang, N.K.1
Chou, C.L.2
Lima, L.H.3
-
22
-
-
70349278385
-
Fundus autofluorescence in type 2 idiopathic macular telangiectasia: Correlation with optical coherence tomography and microperimetry
-
W.T. Wong, F. Forooghian, Z. Majumdar, R.F. Bonner, D. Cunningham, and E.Y. Chew Fundus autofluorescence in type 2 idiopathic macular telangiectasia: correlation with optical coherence tomography and microperimetry Am J Ophthalmol 148 4 2009 573 583
-
(2009)
Am J Ophthalmol
, vol.148
, Issue.4
, pp. 573-583
-
-
Wong, W.T.1
Forooghian, F.2
Majumdar, Z.3
Bonner, R.F.4
Cunningham, D.5
Chew, E.Y.6
-
23
-
-
42549108564
-
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C)
-
K. Koeppen, P. Reuter, S. Kohl, B. Baumann, T. Ladewig, and B. Wissinger Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C) Eur J Neurosci 27 9 2008 2391 2401
-
(2008)
Eur J Neurosci
, vol.27
, Issue.9
, pp. 2391-2401
-
-
Koeppen, K.1
Reuter, P.2
Kohl, S.3
Baumann, B.4
Ladewig, T.5
Wissinger, B.6
-
24
-
-
34548084060
-
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel
-
S. Muraki-Oda, F. Toyoda, and A. Okada Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel Biochem Biophys Res Commun 362 1 12 2007 88 93
-
(2007)
Biochem Biophys Res Commun
, vol.362
, Issue.1
, pp. 88-93
-
-
Muraki-Oda, S.1
Toyoda, F.2
Okada, A.3
-
25
-
-
14944385597
-
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
-
K.M. Nishiguchi, M.A. Sandberg, N. Gorji, E.L. Berson, and T.P. Dryja Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases Hum Mutat 25 3 2005 248 258
-
(2005)
Hum Mutat
, vol.25
, Issue.3
, pp. 248-258
-
-
Nishiguchi, K.M.1
Sandberg, M.A.2
Gorji, N.3
Berson, E.L.4
Dryja, T.P.5
-
26
-
-
0027158799
-
A new subunit of the cyclic nucleotide-gated cation channel in retinal rods
-
T.Y. Chen, Y.W. Peng, R.S. Dhallan, B. Ahamed, R.R. Reed, and K.W. Yau A new subunit of the cyclic nucleotide-gated cation channel in retinal rods Nature 362 6422 1993 764 767
-
(1993)
Nature
, vol.362
, Issue.6422
, pp. 764-767
-
-
Chen, T.Y.1
Peng, Y.W.2
Dhallan, R.S.3
Ahamed, B.4
Reed, R.R.5
Yau, K.W.6
-
27
-
-
0033595022
-
Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3
-
M. Biel, M. Seeliger, and A. Pfeifer Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3 Proc Natl Acad Sci U S A 96 13 1999 7553 7557
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, Issue.13
, pp. 7553-7557
-
-
Biel, M.1
Seeliger, M.2
Pfeifer, A.3
-
28
-
-
70450164177
-
Impaired cone function and cone degeneration resulting from CNGB3 deficiency: Down-regulation of CNGA3 biosynthesis as a potential mechanism
-
X.Q. Ding, C.S. Harry, Y. Umino, A.V. Matveev, S.J. Fliesler, and R.B. Barlow Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism Hum Mol Genet 18 24 2009 4770 4780
-
(2009)
Hum Mol Genet
, vol.18
, Issue.24
, pp. 4770-4780
-
-
Ding, X.Q.1
Harry, C.S.2
Umino, Y.3
Matveev, A.V.4
Fliesler, S.J.5
Barlow, R.B.6
-
29
-
-
36549035313
-
Lipofuscin: Formation, distribution, and metabolic consequences
-
T. Jung, N. Bader, and T. Grune Lipofuscin: formation, distribution, and metabolic consequences Ann N Y Acad Sci 1119 2007 97 111
-
(2007)
Ann N y Acad Sci
, vol.1119
, pp. 97-111
-
-
Jung, T.1
Bader, N.2
Grune, T.3
-
30
-
-
77449157041
-
Crosstalk between Hsp70 molecular chaperone, lysosomes and proteasomes in autophagy-mediated proteolysis in human retinal pigment epithelial cells
-
T. Ryhanen, J.M. Hyttinen, and J. Kopitz Crosstalk between Hsp70 molecular chaperone, lysosomes and proteasomes in autophagy-mediated proteolysis in human retinal pigment epithelial cells J Cell Mol Med 13 9B 2009 3616 3631
-
(2009)
J Cell Mol Med
, vol.13
, Issue.9 B
, pp. 3616-3631
-
-
Ryhanen, T.1
Hyttinen, J.M.2
Kopitz, J.3
-
31
-
-
77955604125
-
Mechanisms of protein aggregation in the retinal pigment epithelial cells
-
K. Kaarniranta, J. Hyttinen, and T. Ryhanen Mechanisms of protein aggregation in the retinal pigment epithelial cells Front Biosci 2 2010 1374 1384
-
(2010)
Front Biosci
, vol.2
, pp. 1374-1384
-
-
Kaarniranta, K.1
Hyttinen, J.2
Ryhanen, T.3
-
32
-
-
55349114752
-
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia
-
P. Reuter, K. Koeppen, T. Ladewig, S. Kohl, B. Baumann, and B. Wissinger Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia Hum Mutat 29 10 2008 1228 1236
-
(2008)
Hum Mutat
, vol.29
, Issue.10
, pp. 1228-1236
-
-
Reuter, P.1
Koeppen, K.2
Ladewig, T.3
Kohl, S.4
Baumann, B.5
Wissinger, B.6
-
33
-
-
0141668884
-
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels
-
C. Peng, E.D. Rich, and M.D. Varnum Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels J Biol Chem 278 36 2003 34533 34540
-
(2003)
J Biol Chem
, vol.278
, Issue.36
, pp. 34533-34540
-
-
Peng, C.1
Rich, E.D.2
Varnum, M.D.3
|