-
1
-
-
78651278414
-
Retinitis pigmentosa and allied conditions today: A paradigm of translational research (Abstract)
-
Ayuso C, Millan JM. Retinitis pigmentosa and allied conditions today: a paradigm of translational research (Abstract). Genome Med. 2010;2:34.
-
(2010)
Genome Med
, vol.2
, pp. 34
-
-
Ayuso, C.1
Millan, J.M.2
-
2
-
-
0036327111
-
Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His
-
To K, Adamian M, Dryja TP, Berson EL. Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol. 2002;134:290-293.
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 290-293
-
-
To, K.1
Adamian, M.2
Dryja, T.P.3
Berson, E.L.4
-
3
-
-
0034842578
-
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)
-
Berson EL, Grimsby JL, Adams SM, et al. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci. 2001;42:2217-2224.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 2217-2224
-
-
Berson, E.L.1
Grimsby, J.L.2
Adams, S.M.3
-
4
-
-
0026089384
-
Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His)
-
Berson EL, Rosner B, Sandberg MA, Dryja TP. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol. 1991;109:92-101.
-
(1991)
Arch Ophthalmol
, vol.109
, pp. 92-101
-
-
Berson, E.L.1
Rosner, B.2
Sandberg, M.A.3
Dryja, T.P.4
-
5
-
-
0025849685
-
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine
-
Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol. 1991;111:614-623.
-
(1991)
Am J Ophthalmol
, vol.111
, pp. 614-623
-
-
Berson, E.L.1
Rosner, B.2
Sandberg, M.A.3
Weigel-Difranco, C.4
Dryja, T.P.5
-
6
-
-
0034094531
-
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
-
Jacobson SG, Cideciyan AV, Iannaccone A, et al. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:1898-1908.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 1898-1908
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Iannaccone, A.3
-
7
-
-
39349095474
-
Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene
-
Passerini I, Sodi A, Giambene B, Menchini U, Torricelli F. Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene. Eur J Ophthalmol. 2007;17:1000-1003.
-
(2007)
Eur J Ophthalmol
, vol.17
, pp. 1000-1003
-
-
Passerini, I.1
Sodi, A.2
Giambene, B.3
Menchini, U.4
Torricelli, F.5
-
8
-
-
34347217878
-
Genotype- phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame
-
Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B. Genotype- phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. Ophthalmology. 2007;114:1348-1357.
-
(2007)
Ophthalmology
, vol.114
, pp. 1348-1357
-
-
Paunescu, K.1
Preising, M.N.2
Janke, B.3
Wissinger, B.4
Lorenz, B.5
-
9
-
-
0029953583
-
Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: Phenotypic variation in both heterozygote and homozygote Val137Met mutant patients
-
Ayuso C, Trujillo MJ, Robledo M, et al. Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients. Hum Genet. 1996;98:51-54.
-
(1996)
Hum Genet
, vol.98
, pp. 51-54
-
-
Ayuso, C.1
Trujillo, M.J.2
Robledo, M.3
-
10
-
-
34548441071
-
A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family
-
Chang W, Ding Q, Tang Z, et al. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. Mol Vis. 2007;13:1548-1554.
-
(2007)
Mol Vis
, vol.13
, pp. 1548-1554
-
-
Chang, W.1
Ding, Q.2
Tang, Z.3
-
11
-
-
77956393918
-
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa
-
Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, et al. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010;87:382-391.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 382-391
-
-
Bandah-Rozenfeld, D.1
Mizrahi-Meissonnier, L.2
Farhy, C.3
-
12
-
-
77956393798
-
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa
-
Langmann T, Di Gioia SA, Rau I, et al. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Am J Hum Genet. 2010;87:376-381.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 376-381
-
-
Langmann, T.1
di Gioia, S.A.2
Rau, I.3
-
13
-
-
55749096378
-
Identifying modifier genes of monogenic disease: Strategies and difficulties
-
Genin E, Feingold J, Clerget-Darpoux F. Identifying modifier genes of monogenic disease: strategies and difficulties. Hum Genet. 2008;124:357-368.
-
(2008)
Hum Genet
, vol.124
, pp. 357-368
-
-
Genin, E.1
Feingold, J.2
Clerget-Darpoux, F.3
-
14
-
-
79959676965
-
The tubby family proteins (Abstract)
-
Mukhopadhyay S, Jackson PK. The tubby family proteins (Abstract). Genome Biol. 2011;12:225.
-
(2011)
Genome Biol
, vol.12
, pp. 225
-
-
Mukhopadhyay, S.1
Jackson, P.K.2
-
15
-
-
0025627770
-
Fat (fat) and tubby (tub): Two autosomal recessive mutations causing obesity syndromes in the mouse
-
Coleman DL, Eicher EM. Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse. J Hered. 1990;81:424-427.
-
(1990)
J Hered
, vol.81
, pp. 424-427
-
-
Coleman, D.L.1
Eicher, E.M.2
-
16
-
-
15844372440
-
Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family
-
Kleyn PW, Fan W, Kovats SG, et al. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell. 1996;85:281-290.
-
(1996)
Cell
, vol.85
, pp. 281-290
-
-
Kleyn, P.W.1
Fan, W.2
Kovats, S.G.3
-
18
-
-
0032884085
-
Cell-specific expression of tubby gene family members (tub, Tulp1,2, and 3) in the retina
-
Ikeda S, He W, Ikeda A, Naggert JK, North MA, Nishina PM. Cell-specific expression of tubby gene family members (tub, Tulp1,2, and 3) in the retina. Invest Ophthalmol Vis Sci. 1999;40: 2706-2712.
-
(1999)
Invest Ophthalmol Vis Sci
, vol.40
, pp. 2706-2712
-
-
Ikeda, S.1
He, W.2
Ikeda, A.3
Naggert, J.K.4
North, M.A.5
Nishina, P.M.6
-
19
-
-
0033978890
-
Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene
-
Ikeda S, Shiva N, Ikeda A, et al. Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. Hum Mol Genet. 2000;9:155-163.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 155-163
-
-
Ikeda, S.1
Shiva, N.2
Ikeda, A.3
-
20
-
-
0031942582
-
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa
-
Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet. 1998;18:174-176.
-
(1998)
Nat Genet
, vol.18
, pp. 174-176
-
-
Hagstrom, S.A.1
North, M.A.2
Nishina, P.L.3
Berson, E.L.4
Dryja, T.P.5
-
21
-
-
17144456542
-
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa
-
Banerjee P, Kleyn PW, Knowles JA, et al. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet. 1998;18:177-179.
-
(1998)
Nat Genet
, vol.18
, pp. 177-179
-
-
Banerjee, P.1
Kleyn, P.W.2
Knowles, J.A.3
-
22
-
-
0034015974
-
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa
-
Paloma E, Hjelmqvist L, Bayes M, et al. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:656-659.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 656-659
-
-
Paloma, E.1
Hjelmqvist, L.2
Bayes, M.3
-
23
-
-
0040386021
-
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa
-
Gu S, Lennon A, Li Y, et al. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. Lancet. 1998;351:1103-1104.
-
(1998)
Lancet
, vol.351
, pp. 1103-1104
-
-
Gu, S.1
Lennon, A.2
Li, Y.3
-
24
-
-
42649130050
-
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family
-
Abbasi AH, Garzozi HJ, Ben-Yosef T. A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family. Mol Vis. 2008;14:675-682.
-
(2008)
Mol Vis
, vol.14
, pp. 675-682
-
-
Abbasi, A.H.1
Garzozi, H.J.2
Ben-Yosef, T.3
-
25
-
-
0034907947
-
A role for the Tubby-like protein 1 in rhodopsin transport
-
Hagstrom SA, Adamian M, Scimeca M, Pawlyk BS, Yue G, Li T. A role for the Tubby-like protein 1 in rhodopsin transport. Invest Ophthalmol Vis Sci. 2001;42:1955-1962.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 1955-1962
-
-
Hagstrom, S.A.1
Adamian, M.2
Scimeca, M.3
Pawlyk, B.S.4
Yue, G.5
Li, T.6
-
26
-
-
0032759729
-
Retinal degeneration in tulp1 mice: Vesicular accumulation in the interphotoreceptor matrix
-
Hagstrom SA, Duyao M, North MA, Li T. Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. Invest Ophthalmol Vis Sci. 1999;40:2795-2802.
-
(1999)
Invest Ophthalmol Vis Sci
, vol.40
, pp. 2795-2802
-
-
Hagstrom, S.A.1
Duyao, M.2
North, M.A.3
Li, T.4
-
27
-
-
67649974004
-
Early synaptic defects in tulp1 mice
-
Grossman GH, Pauer GJ, Narendra U, Peachey NS, Hagstrom SA. Early synaptic defects in tulp1-/- mice. Invest Ophthalmol Vis Sci. 2009;50:3074-3083.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 3074-3083
-
-
Grossman, G.H.1
Pauer, G.J.2
Narendra, U.3
Peachey, N.S.4
Hagstrom, S.A.5
-
28
-
-
79959582686
-
Tubby-like protein 1 (Tulp1) is required for normal photoreceptor synaptic development
-
Grossman GH, Pauer GJT, Narendra U, Hagstrom SA. Tubby-like protein 1 (Tulp1) is required for normal photoreceptor synaptic development. Adv Exp Med Biol. 2010;664:89-96.
-
(2010)
Adv Exp Med Biol
, vol.664
, pp. 89-96
-
-
Grossman, G.H.1
Pauer, G.J.T.2
Narendra, U.3
Hagstrom, S.A.4
-
29
-
-
0033609793
-
Tyrosine phosphorylation of tub and its association with Src homology 2 domain-containing proteins implicate tub in intracellular signaling by insulin
-
Kapeller R, Moriarty A, Strauss A, et al. Tyrosine phosphorylation of tub and its association with Src homology 2 domain-containing proteins implicate tub in intracellular signaling by insulin. J Biol Chem. 1999;274:24980-24986.
-
(1999)
J Biol Chem
, vol.274
, pp. 24980-24986
-
-
Kapeller, R.1
Moriarty, A.2
Strauss, A.3
-
30
-
-
58349112969
-
Phospholipid scramblases and Tubby-like proteins belong to a new superfamily of membrane tethered transcription factors
-
Bateman A, Finn RD, Sims PJ, Wiedmer T, Biegert A, Soding J. Phospholipid scramblases and Tubby-like proteins belong to a new superfamily of membrane tethered transcription factors. Bioinformatics. 2009;25:159-162.
-
(2009)
Bioinformatics
, vol.25
, pp. 159-162
-
-
Bateman, A.1
Finn, R.D.2
Sims, P.J.3
Wiedmer, T.4
Biegert, A.5
Soding, J.6
-
31
-
-
0032787396
-
Implication of tubby proteins as transcription factors by structure-based functional analysis
-
Boggon TJ, Shan WS, Santagata S, Myers SC, Shapiro L. Implication of tubby proteins as transcription factors by structure-based functional analysis. Science. 1999;286:2119-2125.
-
(1999)
Science
, vol.286
, pp. 2119-2125
-
-
Boggon, T.J.1
Shan, W.S.2
Santagata, S.3
Myers, S.C.4
Shapiro, L.5
-
32
-
-
70450252025
-
Identification of tubby and tubby-like protein 1 as eat-me signals by phage display
-
Caberoy NB, Maiguel D, Kim Y, Li W. Identification of tubby and tubby-like protein 1 as eat-me signals by phage display. Exp Cell Res. 2010;316:245-257.
-
(2010)
Exp Cell Res
, vol.316
, pp. 245-257
-
-
Caberoy, N.B.1
Maiguel, D.2
Kim, Y.3
Li, W.4
-
33
-
-
78649714537
-
Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis
-
Caberoy NB, Zhou Y, Li W. Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis. EMBO J. 2010;29:3898-3910.
-
(2010)
EMBO J
, vol.29
, pp. 3898-3910
-
-
Caberoy, N.B.1
Zhou, Y.2
Li, W.3
-
34
-
-
0036318280
-
Genetic modification of retinal degeneration in tubby mice
-
Ikeda A, Naggert JK, Nishina PM. Genetic modification of retinal degeneration in tubby mice. Exp Eye Res. 2002;74:455-461.
-
(2002)
Exp Eye Res
, vol.74
, pp. 455-461
-
-
Ikeda, A.1
Naggert, J.K.2
Nishina, P.M.3
-
35
-
-
0032833982
-
Genetic modification of hearing in tubby mice: Evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss
-
Ikeda A, Zheng QY, Rosenstiel P, et al. Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss. Hum Mol Genet. 1999;8:1761-1767.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1761-1767
-
-
Ikeda, A.1
Zheng, Q.Y.2
Rosenstiel, P.3
-
36
-
-
0036544659
-
Microtubule-associated protein 1A is a modifier of tubby hearing (moth1)
-
Ikeda A, Zheng QY, Zuberi AR, Johnson KR, Naggert JK, Nishina PM. Microtubule-associated protein 1A is a modifier of tubby hearing (moth1). Nat Genet. 2002;30:401-405.
-
(2002)
Nat Genet
, vol.30
, pp. 401-405
-
-
Ikeda, A.1
Zheng, Q.Y.2
Zuberi, A.R.3
Johnson, K.R.4
Naggert, J.K.5
Nishina, P.M.6
-
37
-
-
33750120717
-
The MAP1 family of microtubule-associated proteins (Review)
-
Halpain S, Dehmelt L. The MAP1 family of microtubule-associated proteins (Review). Genome Biol. 2006;7:224.
-
(2006)
Genome Biol
, vol.7
, pp. 224
-
-
Halpain, S.1
Dehmelt, L.2
-
38
-
-
34347241366
-
Interaction between the photoreceptor- specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1
-
Xi Q, Pauer GJ, Ball SL, et al. Interaction between the photoreceptor- specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1. Invest Ophthalmol Vis Sci. 2007;48:2837-2844.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 2837-2844
-
-
Xi, Q.1
Pauer, G.J.2
Ball, S.L.3
-
39
-
-
0034164617
-
Linkage analysis in the presence of errors III: Marker loci and their map as nuisance parameters
-
Goring HH, Terwilliger JD. Linkage analysis in the presence of errors III: marker loci and their map as nuisance parameters. Am J Hum Genet. 2000;66:1298-1309.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1298-1309
-
-
Goring, H.H.1
Terwilliger, J.D.2
-
40
-
-
48249119913
-
Genetic modifiers of retinal degeneration in the rd3 mouse
-
Danciger M, Ogando D, Yang H, et al. Genetic modifiers of retinal degeneration in the rd3 mouse. Invest Ophthalmol Vis Sci. 2008; 49:2863-2869.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 2863-2869
-
-
Danciger, M.1
Ogando, D.2
Yang, H.3
-
41
-
-
52549103273
-
The Collaborative Cross at Oak Ridge National Laboratory: Developing a powerful resource for systems genetics
-
Chesler EJ, Miller DR, Branstetter LR, et al. The Collaborative Cross at Oak Ridge National Laboratory: developing a powerful resource for systems genetics. Mamm Genome. 2008;19:382-389.
-
(2008)
Mamm Genome
, vol.19
, pp. 382-389
-
-
Chesler, E.J.1
Miller, D.R.2
Branstetter, L.R.3
-
42
-
-
14644441018
-
The Collaborative Cross, a community resource for the genetic analysis of complex traits
-
Churchill GA, Airey DC, Allayee H, et al. The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nat Genet. 2004;36:1133-1137.
-
(2004)
Nat Genet
, vol.36
, pp. 1133-1137
-
-
Churchill, G.A.1
Airey, D.C.2
Allayee, H.3
-
43
-
-
52549130734
-
The Collaborative Cross, developing a resource for mammalian systems genetics: A status report of the Wellcome Trust cohort
-
Iraqi FA, Churchill G, Mott R. The Collaborative Cross, developing a resource for mammalian systems genetics: a status report of the Wellcome Trust cohort. Mamm Genome. 2008;19:379-381.
-
(2008)
Mamm Genome
, vol.19
, pp. 379-381
-
-
Iraqi, F.A.1
Churchill, G.2
Mott, R.3
-
45
-
-
0016690356
-
Lysosomes and melanin granules of the retinal pigment epithelium in a mouse model of the Chédiak-Higashi syndrome
-
Robison WG Jr, Kuwabara T, Cogan DG. Lysosomes and melanin granules of the retinal pigment epithelium in a mouse model of the Chédiak-Higashi syndrome. Invest Ophthalmol. 1975;14:312-317.
-
(1975)
Invest Ophthalmol
, vol.14
, pp. 312-317
-
-
Robison Jr., W.G.1
Kuwabara, T.2
Cogan, D.G.3
-
46
-
-
33644649452
-
Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25
-
Runkel F, Bussow H, Seburn KL, et al. Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25. Mamm Genome. 2006;17:203-210.
-
(2006)
Mamm Genome
, vol.17
, pp. 203-210
-
-
Runkel, F.1
Bussow, H.2
Seburn, K.L.3
-
47
-
-
0018987819
-
Chediak-Higashi syndrome: Ocular findings
-
Ben Ezra D, Mengistu F, Cividalli G, Weizman Z, Merin S, Auerbach E. Chediak-Higashi syndrome: ocular findings. J Pediatr Ophthalmol Strabismus. 1980;17:68-74.
-
(1980)
J Pediatr Ophthalmol Strabismus
, vol.17
, pp. 68-74
-
-
Ben Ezra, D.1
Mengistu, F.2
Cividalli, G.3
Weizman, Z.4
Merin, S.5
Auerbach, E.6
-
49
-
-
33244478094
-
Bright cyclic light accelerates photoreceptor cell degeneration in tubby mice
-
Kong L, Li F, Soleman CE, et al. Bright cyclic light accelerates photoreceptor cell degeneration in tubby mice. Neurobiol Dis. 2006;21:468-477.
-
(2006)
Neurobiol Dis
, vol.21
, pp. 468-477
-
-
Kong, L.1
Li, F.2
Soleman, C.E.3
-
50
-
-
0032402129
-
Immunocytochemical localization of the postsynaptic density protein PSD-95 in the mammalian retina
-
Koulen P, Fletcher EL, Craven SE, Bredt DS, Wassle H. Immunocytochemical localization of the postsynaptic density protein PSD-95 in the mammalian retina. J Neurosci. 1998;18:10136-10149.
-
(1998)
J Neurosci
, vol.18
, pp. 10136-10149
-
-
Koulen, P.1
Fletcher, E.L.2
Craven, S.E.3
Bredt, D.S.4
Wassle, H.5
-
51
-
-
33644789436
-
Tubbylike protein 1 (TULP1) interacts with F-actin in photoreceptor cells
-
Xi Q, Pauer GJ, Marmorstein AD, Crabb JW, Hagstrom SA. Tubbylike protein 1 (TULP1) interacts with F-actin in photoreceptor cells. Invest Ophthalmol Vis Sci. 2005;46:4754-4761.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 4754-4761
-
-
Xi, Q.1
Pauer, G.J.2
Marmorstein, A.D.3
Crabb, J.W.4
Hagstrom, S.A.5
|