-
1
-
-
0001577217
-
Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells
-
Sorokin S. Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells. J Cell Biol 1962; 15:363-77.
-
(1962)
J Cell Biol
, vol.15
, pp. 363-377
-
-
Sorokin, S.1
-
2
-
-
0014366465
-
Centriole formation and ciliogenesis
-
Sorokin SP. Centriole formation and ciliogenesis. Aspen Emphysema Conf 1968; 11:213-6. PMID: 5751848
-
(1968)
Aspen Emphysema Conf
, vol.11
, pp. 213-216
-
-
Sorokin, S.P.1
-
3
-
-
0037227766
-
The vertebrate primary cilium is a sensory organelle
-
Pazour GJ, Witman GB. The vertebrate primary cilium is a sensory organelle. Curr Opin Cell Biol 2003; 15:105-10.
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 105-110
-
-
Pazour, G.J.1
Witman, G.B.2
-
4
-
-
19044374304
-
Intraflagellar transport
-
Rosenbaum J. Intraflagellar transport. Curr Biol 2002; 12:R125.
-
(2002)
Curr Biol
, vol.12
-
-
Rosenbaum, J.1
-
6
-
-
28844460656
-
Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease?
-
Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 2005; 6:928-40.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 928-940
-
-
Hildebrandt, F.1
Otto, E.2
-
8
-
-
0016491752
-
X-linked retinitis pigmentosa
-
Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975; 59:177-99.
-
(1975)
Br J Ophthalmol
, vol.59
, pp. 177-199
-
-
Bird, A.C.1
-
9
-
-
0023926027
-
X-linked retinitis pigmentosa. Profile of clinical findings
-
Fishman GA, Farber MD, Derlacki DJ. X-linked retinitis pigmentosa. Profile of clinical findings. Arch Ophthalmol 1988; 106:369-75.
-
(1988)
Arch Ophthalmol
, vol.106
, pp. 369-375
-
-
Fishman, G.A.1
Farber, M.D.2
Derlacki, D.J.3
-
10
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X linked retinitis pigmentosa (RP3)
-
Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X linked retinitis pigmentosa (RP3). Nat Genet 1996; 13:35-42.
-
(1996)
Nat Genet
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
Manson, F.4
Ciccodicola, A.5
Edgar, A.6
Carvalho, M.R.7
Achatz, H.8
Hellebrand, H.9
Lennon, A.10
Migliaccio, C.11
Porter, K.12
Zrenner, E.13
Bird, A.14
Jay, M.15
Lorenz, B.16
Wittwer, B.17
D'urso, M.18
Meitinger, T.19
Wright, A.20
more..
-
11
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 1996; 5:1035-41.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
van Duijnhoven, G.2
Rosenberg, T.3
Pinckers, A.J.4
Bleeker-Wagemakers, L.M.5
Bergen, A.A.6
Post, J.7
Beck, A.8
Reinhardt, R.9
Ropers, H.H.10
Cremers, F.P.11
Berger, W.12
-
12
-
-
18344391605
-
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
-
Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 2002; 70:1545-54.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1545-1554
-
-
Breuer, D.K.1
Yashar, B.M.2
Filippova, E.3
Hiriyanna, S.4
Lyons, R.H.5
Mears, A.J.6
Asaye, B.7
Acar, C.8
Vervoort, R.9
Wright, A.F.10
Musarella, M.A.11
Wheeler, P.12
MacDonald, I.13
Iannaccone, A.14
Birch, D.15
Hoffman, D.R.16
Fishman, G.A.17
Heckenlively, J.R.18
Jacobson, S.G.19
Sieving, P.A.20
Swaroop, A.21
more..
-
13
-
-
34047218921
-
RPGR mutation analysis and disease: An update
-
Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF. RPGR mutation analysis and disease: an update. Hum Mutat 2007; 28:322-8.
-
(2007)
Hum Mutat
, vol.28
, pp. 322-328
-
-
Shu, X.1
Black, G.C.2
Rice, J.M.3
Hart-Holden, N.4
Jones, A.5
O'Grady, A.6
Ramsden, S.7
Wright, A.F.8
-
14
-
-
1842504243
-
Increasing evidence for syndromic phenotypes associated with RPGR mutations
-
Iannaccone A, Wang X, Jablonski MM, Kuo SF, Baldi A, Cosgrove D, Morton CC, Swaroop A. Increasing evidence for syndromic phenotypes associated with RPGR mutations. Am J Ophthalmol 2004; 137:785-6.
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 785-786
-
-
Iannaccone, A.1
Wang, X.2
Jablonski, M.M.3
Kuo, S.F.4
Baldi, A.5
Cosgrove, D.6
Morton, C.C.7
Swaroop, A.8
-
15
-
-
33645765214
-
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
-
Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 2006; 43:326-33.
-
(2006)
J Med Genet
, vol.43
, pp. 326-333
-
-
Moore, A.1
Escudier, E.2
Roger, G.3
Tamalet, A.4
Pelosse, B.5
Marlin, S.6
Clément, A.7
Geremek, M.8
Delaisi, B.9
Bridoux, A.M.10
Coste, A.11
Witt, M.12
Duriez, B.13
Amselem, S.14
-
16
-
-
0026514159
-
A family with RP3 type of X-linked retinitis pigmentosa: An association with ciliary abnormalities
-
van Dorp DB, Wright AF, Carothers AD, Bleeker-Wagemakers EM. A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities. Hum Genet 1992; 88:331-4.
-
(1992)
Hum Genet
, vol.88
, pp. 331-334
-
-
van Dorp, D.B.1
Wright, A.F.2
Carothers, A.D.3
Bleeker-Wagemakers, E.M.4
-
17
-
-
38749123981
-
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies
-
He S, Parapuram SK, Hurd TW, Behnam B, Margolis B, Swaroop A, Khanna H. Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res 2008; 48:366-76.
-
(2008)
Vision Res
, vol.48
, pp. 366-376
-
-
He, S.1
Parapuram, S.K.2
Hurd, T.W.3
Behnam, B.4
Margolis, B.5
Swaroop, A.6
Khanna, H.7
-
18
-
-
0036846601
-
Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers
-
Hong DH, Li T. Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers. Invest Ophthalmol Vis Sci 2002; 43:3373-82.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 3373-3382
-
-
Hong, D.H.1
Li, T.2
-
19
-
-
25844471118
-
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins
-
Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem 2005; 280:33580-7.
-
(2005)
J Biol Chem
, vol.280
, pp. 33580-33587
-
-
Khanna, H.1
Hurd, T.W.2
Lillo, C.3
Shu, X.4
Parapuram, S.K.5
He, S.6
Akimoto, M.7
Wright, A.F.8
Margolis, B.9
Williams, D.S.10
Swaroop, A.11
-
20
-
-
0032816282
-
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
-
Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet 1999; 8:1571-8.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1571-1578
-
-
Kirschner, R.1
Rosenberg, T.2
Schultz-Heienbrok, R.3
Lenzner, S.4
Feil, S.5
Roepman, R.6
Cremers, F.P.7
Ropers, H.H.8
Berger, W.9
-
21
-
-
0038485864
-
RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
-
Hong DH, Pawlyk B, Sokolov M, Strissel KJ, Yang J, Tulloch B, Wright AF, Arshavsky VY, Li T. RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci 2003; 44:2413-21.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 2413-2421
-
-
Hong, D.H.1
Pawlyk, B.2
Sokolov, M.3
Strissel, K.J.4
Yang, J.5
Tulloch, B.6
Wright, A.F.7
Arshavsky, V.Y.8
Li, T.9
-
22
-
-
0014292478
-
Passage of newly formed protein through the connecting cilium of retina rods in the frog
-
Young RW. Passage of newly formed protein through the connecting cilium of retina rods in the frog. J Ultrastruct Res 1968; 23:462-73.
-
(1968)
J Ultrastruct Res
, vol.23
, pp. 462-473
-
-
Young, R.W.1
-
23
-
-
0034724168
-
A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
-
Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA 2000; 97:3649-54.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 3649-3354
-
-
Hong, D.H.1
Pawlyk, B.S.2
Shang, J.3
Sandberg, M.A.4
Berson, E.L.5
Li, T.6
-
24
-
-
0036565892
-
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
-
Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 2002; 11:993-1003.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 993-1003
-
-
Zhang, Q.1
Acland, G.M.2
Wu, W.X.3
Johnson, J.L.4
Pearce-Kelling, S.5
Tulloch, B.6
Vervoort, R.7
Wright, A.F.8
Aguirre, G.D.9
-
25
-
-
0035853834
-
Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
-
Hong DH, Yue G, Adamian M, Li T. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem 2001; 276:12091-9.
-
(2001)
J Biol Chem
, vol.276
, pp. 12091-12099
-
-
Hong, D.H.1
Yue, G.2
Adamian, M.3
Li, T.4
-
26
-
-
34347356500
-
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin 4 interactor, cause Joubert syndrome
-
Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin 4 interactor, cause Joubert syndrome. Nat Genet 2007; 39:882-8.
-
(2007)
Nat Genet
, vol.39
, pp. 882-888
-
-
Arts, H.H.1
Doherty, D.2
van Beersum, S.E.3
Parisi, M.A.4
Letteboer, S.J.5
Gorden, N.T.6
Peters, T.A.7
Märker, T.8
Voesenek, K.9
Kartono, A.10
Ozyurek, H.11
Farin, F.M.12
Kroes, H.Y.13
Wolfrum, U.14
Brunner, H.G.15
Cremers, F.P.16
Glass, I.A.17
Knoers, N.V.18
Roepman, R.19
-
27
-
-
34347324031
-
The ciliary gene RPGRIP1L is mutated in cerebello oculorenal syndrome (Joubert syndrome type B) and Meckel syndrome
-
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha- Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. The ciliary gene RPGRIP1L is mutated in cerebello oculorenal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007; 39:875-81.
-
(2007)
Nat Genet
, vol.39
, pp. 875-881
-
-
Delous, M.1
Baala, L.2
Salomon, R.3
Laclef, C.4
Vierkotten, J.5
Tory, K.6
Golzio, C.7
Lacoste, T.8
Besse, L.9
Ozilou, C.10
Moutkine, I.11
Hellman, N.E.12
Anselme, I.13
Silbermann, F.14
Vesque, C.15
Gerhardt, C.16
Rattenberry, E.17
Wolf, M.T.18
Gubler, M.C.19
Martinovic, J.20
Encha-Razavi, F.21
Boddaert, N.22
Gonzales, M.23
MacHer, M.A.24
Nivet, H.25
Champion, G.26
Berthélémé, J.P.27
Niaudet, P.28
McDonald, F.29
Hildebrandt, F.30
Johnson, C.A.31
Vekemans, M.32
Antignac, C.33
Rüther, U.34
Schneider-Maunoury, S.35
Attié-Bitach, T.36
Saunier, S.37
more..
-
28
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
-
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006; 79:556-61.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 556-561
-
-
den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
Lopez, I.4
Arends, M.L.5
Voesenek, K.E.6
Zonneveld, M.N.7
Strom, T.M.8
Meitinger, T.9
Brunner, H.G.10
Hoyng, C.B.11
van den Born, L.I.12
Rohrschneider, K.13
Cremers, F.P.14
-
29
-
-
33745230448
-
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
-
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006; 38:674-81.
-
(2006)
Nat Genet
, vol.38
, pp. 674-681
-
-
Sayer, J.A.1
Otto, E.A.2
O'Toole, J.F.3
Nurnberg, G.4
Kennedy, M.A.5
Becker, C.6
Hennies, H.C.7
Helou, J.8
Attanasio, M.9
Fausett, B.V.10
Utsch, B.11
Khanna, H.12
Liu, Y.13
Drummond, I.14
Kawakami, I.15
Kusakabe, T.16
Tsuda, M.17
Ma, L.18
Lee, H.19
Larson, R.G.20
Allen, S.J.21
Wilkinson, C.J.22
Nigg, E.A.23
Shou, C.24
Lillo, C.25
Williams, D.S.26
Hoppe, B.27
Kemper, M.J.28
Neuhaus, T.29
Parisi, M.A.30
Glass, I.A.31
Petry, M.32
Kispert, A.33
Gloy, J.34
Ganner, A.35
Walz, G.36
Zhu, X.37
Goldman, D.38
Nurnberg, P.39
Swaroop, A.40
Leroux, M.R.41
Hildebrandt, F.42
more..
-
30
-
-
33744757686
-
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
-
Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006; 15:1847-57.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
Jimeno, D.4
He, S.5
Lillo, C.6
Parapuram, S.K.7
Cheng, H.8
Scott, A.9
Hurd, R.E.10
Sayer, J.A.11
Otto, E.A.12
Attanasio, M.13
O'Toole, J.F.14
Jin, G.15
Shou, C.16
Hildebrandt, F.17
Williams, D.S.18
Heckenlively, J.R.19
Swaroop, A.20
more..
-
31
-
-
67349141319
-
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
-
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009; 41:739-45.
-
(2009)
Nat Genet
, vol.41
, pp. 739-745
-
-
Khanna, H.1
Davis, E.E.2
Murga-Zamalloa, C.A.3
Estrada-Cuzcano, A.4
Lopez, I.5
den Hollander, A.I.6
Zonneveld, M.N.7
Othman, M.I.8
Waseem, N.9
Chakarova, C.F.10
Maubaret, C.11
Diaz-Font, A.12
MacDonald, I.13
Muzny, D.M.14
Wheeler, D.A.15
Morgan, M.16
Lewis, L.R.17
Logan, C.V.18
Tan, P.L.19
Beer, M.A.20
Inglehearn, C.F.21
Lewis, R.A.22
Jacobson, S.G.23
Bergmann, C.24
Beales, P.L.25
Attié-Bitach, T.26
Johnson, C.A.27
Otto, E.A.28
Bhattacharya, S.S.29
Hildebrandt, F.30
Gibbs, R.A.31
Koenekoop, R.K.32
Swaroop, A.33
Katsanis, N.34
more..
-
32
-
-
20144375842
-
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
-
Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005; 37:282-8.
-
(2005)
Nat Genet
, vol.37
, pp. 282-288
-
-
Otto, E.A.1
Loeys, B.2
Khanna, H.3
Hellemans, J.4
Sudbrak, R.5
Fan, S.6
Muerb, U.7
O'Toole, J.F.8
Helou, J.9
Attanasio, M.10
Utsch, B.11
Sayer, J.A.12
Lillo, C.13
Jimeno, D.14
Coucke, P.15
de Paepe, A.16
Reinhardt, R.17
Klages, S.18
Tsuda, M.19
Kawakami, I.20
Kusakabe, T.21
Omran, H.22
Imm, A.23
Tippens, M.24
Raymond, P.A.25
Hill, J.26
Beales, P.27
He, S.28
Kispert, A.29
Margolis, B.30
Williams, D.S.31
Swaroop, A.32
Hildebrandt, F.33
more..
-
33
-
-
0035004268
-
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
-
Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68:1295-8.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1295-1298
-
-
Dryja, T.P.1
Adams, S.M.2
Grimsby, J.L.3
McGee, T.L.4
Hong, D.H.5
Li, T.6
Andréasson, S.7
Berson, E.L.8
-
34
-
-
41349103272
-
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet- Biedl syndrome
-
Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet- Biedl syndrome. Nat Genet 2008; 40:443-8.
-
(2008)
Nat Genet
, vol.40
, pp. 443-448
-
-
Leitch, C.C.1
Zaghloul, N.A.2
Davis, E.E.3
Stoetzel, C.4
Diaz-Font, A.5
Rix, S.6
Alfadhel, M.7
Lewis, R.A.8
Eyaid, W.9
Banin, E.10
Dollfus, H.11
Beales, P.L.12
Badano, J.L.13
Katsanis, N.14
-
35
-
-
33745225873
-
International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
-
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E. International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 2006; 38:623-5.
-
(2006)
Nat Genet
, vol.38
, pp. 623-625
-
-
Valente, E.M.1
Silhavy, J.L.2
Brancati, F.3
Barrano, G.4
Krishnaswami, S.R.5
Castori, M.6
Lancaster, M.A.7
Boltshauser, E.8
Boccone, L.9
Al-Gazali, L.10
Fazzi, E.11
Signorini, S.12
Louie, C.M.13
Bellacchio, E.14
-
36
-
-
77955614233
-
-
In: Andersen RE, Hollyfield, J.G., Lavail, M.M., editors, Laboratory and Therapeutic Investigations: Springer
-
Murga-Zamalloa CA, Swaroop A, Khanna H. In: Andersen RE, Hollyfield, J.G., Lavail, M.M., editors. Retinal Degenerative Diseases: Laboratory and Therapeutic Investigations: Springer; 2010.
-
(2010)
Retinal Degenerative Diseases
-
-
Murga-Zamalloa, C.A.1
Swaroop, A.2
Khanna, H.3
-
37
-
-
22744437648
-
GATA-1 forms distinct activating and repressive complexes in erythroid cells
-
Rodriguez P, Bonte E, Krijgsveld J, Kolodziej KE, Guyot B, Heck AJ, Vyas P, de Boer E, Grosveld F, Strouboulis J. GATA-1 forms distinct activating and repressive complexes in erythroid cells. EMBO J 2005; 24:2354-66.
-
(2005)
EMBO J
, vol.24
, pp. 2354-2366
-
-
Rodriguez, P.1
Bonte, E.2
Krijgsveld, J.3
Kolodziej, K.E.4
Guyot, B.5
Heck, A.J.6
Vyas, P.7
de Boer, E.8
Grosveld, F.9
Strouboulis, J.10
-
38
-
-
0036842902
-
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
-
Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet 2002; 71:1161-7.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1161-1167
-
-
Otto, E.1
Hoefele, J.2
Ruf, R.3
Mueller, A.M.4
Hiller, K.S.5
Wolf, M.T.6
Schuermann, M.J.7
Becker, A.8
Birkenhäger, R.9
Sudbrak, R.10
Hennies, H.C.11
Nürnberg, P.12
Hildebrandt, F.13
-
39
-
-
18644368159
-
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
-
Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet 2002; 32:300-5.
-
(2002)
Nat Genet
, vol.32
, pp. 300-305
-
-
Mollet, G.1
Salomon, R.2
Gribouval, O.3
Silbermann, F.4
Bacq, D.5
Landthaler, G.6
Milford, D.7
Nayir, A.8
Rizzoni, G.9
Antignac, C.10
Saunier, S.11
-
40
-
-
29444443370
-
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis associated mutations
-
Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis associated mutations. Proc Natl Acad Sci USA 2005; 102:18520-5. PMID: 16339905
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 18520-18525
-
-
Roepman, R.1
Letteboer, S.J.2
Arts, H.H.3
van Beersum, S.E.4
Lu, X.5
Krieger, E.6
Ferreira, P.A.7
Cremers, F.P.8
-
41
-
-
14644403727
-
Characterization of the nephrocystin/ nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
-
Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S. Characterization of the nephrocystin/ nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet 2005; 14:645-56.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 645-656
-
-
Mollet, G.1
Silbermann, F.2
Delous, M.3
Salomon, R.4
Antignac, C.5
Saunier, S.6
-
42
-
-
0030868540
-
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
-
Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 1997; 17:149-53.
-
(1997)
Nat Genet
, vol.17
, pp. 149-153
-
-
Hildebrandt, F.1
Otto, E.2
Rensing, C.3
Nothwang, H.G.4
Vollmer, M.5
Adolphs, J.6
Hanusch, H.7
Brandis, M.8
-
43
-
-
9844224478
-
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
-
Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 1997; 6:2317-23.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2317-2323
-
-
Saunier, S.1
Calado, J.2
Heilig, R.3
Silbermann, F.4
Benessy, F.5
Morin, G.6
Konrad, M.7
Broyer, M.8
Gubler, M.C.9
Weissenbach, J.10
Antignac, C.11
-
44
-
-
33748056457
-
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia
-
Fliegauf M, Horvath J, von Schnakenburg C, Olbrich H, Müller D, Thumfart J, Schermer B, Pazour GJ, Neumann HP, Zentgraf H, Benzing T, Omran H. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol 2006; 17:2424-33.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 2424-2433
-
-
Fliegauf, M.1
Horvath, J.2
von Schnakenburg, C.3
Olbrich, H.4
Müller, D.5
Thumfart, J.6
Schermer, B.7
Pazour, G.J.8
Neumann, H.P.9
Zentgraf, H.10
Benzing, T.11
Omran, H.12
-
45
-
-
64549163214
-
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse
-
Jiang ST, Chiou YY, Wang E, Chien YL, Ho HH, Tsai FJ, Lin CY, Tsai SP, Li H. Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. Hum Mol Genet 2009; 18:1566-77.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1566-1577
-
-
Jiang, S.T.1
Chiou, Y.Y.2
Wang, E.3
Chien, Y.L.4
Ho, H.H.5
Tsai, F.J.6
Lin, C.Y.7
Tsai, S.P.8
Li, H.9
-
46
-
-
77951897191
-
RPGRcontaining protein complexes in syndromic and nonsyndromic retinal degeneration due to ciliary dysfunction
-
Murga-Zamalloa CA, Swaroop A, Khanna H. RPGRcontaining protein complexes in syndromic and nonsyndromic retinal degeneration due to ciliary dysfunction. J Genet 2009; 88:399-407.
-
(2009)
J Genet
, vol.88
, pp. 399-407
-
-
Murga-Zamalloa, C.A.1
Swaroop, A.2
Khanna, H.3
-
47
-
-
58749105340
-
Modeling ciliopathies: Primary cilia in development and disease
-
Quinlan RJ, Tobin JL, Beales PL. Modeling ciliopathies: Primary cilia in development and disease. Curr Top Dev Biol 2008; 84:249-310. PMID: 19186246
-
(2008)
Curr Top Dev Biol
, vol.84
, pp. 249-310
-
-
Quinlan, R.J.1
Tobin, J.L.2
Beales, P.L.3
-
48
-
-
34547547119
-
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
-
Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet 2007; 39:1018-24.
-
(2007)
Nat Genet
, vol.39
, pp. 1018-1024
-
-
Attanasio, M.1
Uhlenhaut, N.H.2
Sousa, V.H.3
O'Toole, J.F.4
Otto, E.5
Anlag, K.6
Klugmann, C.7
Treier, A.C.8
Helou, J.9
Sayer, J.A.10
Seelow, D.11
Nürnberg, G.12
Becker, C.13
Chudley, A.E.14
Nürnberg, P.15
Hildebrandt, F.16
Treier, M.17
-
49
-
-
0042093746
-
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
-
Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 2003; 34:455-9.
-
(2003)
Nat Genet
, vol.34
, pp. 455-459
-
-
Olbrich, H.1
Fliegauf, M.2
Hoefele, J.3
Kispert, A.4
Otto, E.5
Volz, A.6
Wolf, M.T.7
Sasmaz, G.8
Trauer, U.9
Reinhardt, R.10
Sudbrak, R.11
Antignac, C.12
Gretz, N.13
Walz, G.14
Schermer, B.15
Benzing, T.16
Hildebrandt, F.17
Omran, H.18
-
50
-
-
0041592700
-
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
-
Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 2003; 34:413-20.
-
(2003)
Nat Genet
, vol.34
, pp. 413-420
-
-
Otto, E.A.1
Schermer, B.2
Obara, T.3
O'Toole, J.F.4
Hiller, K.S.5
Mueller, A.M.6
Ruf, R.G.7
Hoefele, J.8
Beekmann, F.9
Landau, D.10
Foreman, J.W.11
Goodship, J.A.12
Strachan, T.13
Kispert, A.14
Wolf, M.T.15
Gagnadoux, M.F.16
Nivet, H.17
Antignac, C.18
Walz, G.19
Drummond, I.A.20
Benzing, T.21
Hildebrandt, F.22
more..
-
51
-
-
70349659803
-
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
-
Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet 2009; 46:663-70.
-
(2009)
J Med Genet
, vol.46
, pp. 663-670
-
-
Otto, E.A.1
Tory, K.2
Attanasio, M.3
Zhou, W.4
Chaki, M.5
Paruchuri, Y.6
Wise, E.L.7
Wolf, M.T.8
Utsch, B.9
Becker, C.10
Nürnberg, G.11
Nürnberg, P.12
Nayir, A.13
Saunier, S.14
Antignac, C.15
Hildebrandt, F.16
-
52
-
-
40449102218
-
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis
-
Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol 2008; 19:587-92.
-
(2008)
J Am Soc Nephrol
, vol.19
, pp. 587-592
-
-
Otto, E.A.1
Trapp, M.L.2
Schultheiss, U.T.3
Helou, J.4
Quarmby, L.M.5
Hildebrandt, F.6
-
54
-
-
77649319968
-
Human retinopathy associated ciliary protein retinitis pigmentosa GTPase regulator mediates ciliadependent vertebrate development
-
Ghosh AK, Murga-Zamalloa CA, Chan L, Hitchcock PF, Swaroop A, Khanna H. Human retinopathy associated ciliary protein retinitis pigmentosa GTPase regulator mediates ciliadependent vertebrate development. Hum Mol Genet 2010; 19:90-8.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 90-98
-
-
Ghosh, A.K.1
Murga-Zamalloa, C.A.2
Chan, L.3
Hitchcock, P.F.4
Swaroop, A.5
Khanna, H.6
-
55
-
-
0014342717
-
The renewal of protein in retinal rods and cones
-
Young RW, Droz B. The renewal of protein in retinal rods and cones. J Cell Biol 1968; 39:169-84.
-
(1968)
J Cell Biol
, vol.39
, pp. 169-184
-
-
Young, R.W.1
Droz, B.2
-
56
-
-
0348162558
-
Photoreceptor intersegmental transport and retinal degeneration: A conserved pathway common to motile and sensory cilia
-
Besharse JC, Baker SA, Luby-Phelps K, Pazour GJ. Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia. Adv Exp Med Biol 2003; 533:157-64.
-
(2003)
Adv Exp Med Biol
, vol.533
, pp. 157-164
-
-
Besharse, J.C.1
Baker, S.A.2
Luby-Phelps, K.3
Pazour, G.J.4
-
58
-
-
4644258740
-
Direct binding of visual arrestin to microtubules determines the differential subcellular localization of its splice variants in rod photoreceptors
-
Nair KS, Hanson SM, Kennedy MJ, Hurley JB, Gurevich VV, Slepak VZ. Direct binding of visual arrestin to microtubules determines the differential subcellular localization of its splice variants in rod photoreceptors. J Biol Chem 2004; 279:41240-8.
-
(2004)
J Biol Chem
, vol.279
, pp. 41240-41248
-
-
Nair, K.S.1
Hanson, S.M.2
Kennedy, M.J.3
Hurley, J.B.4
Gurevich, V.V.5
Slepak, V.Z.6
-
59
-
-
0032168064
-
Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA
-
Deretic D, Schmerl S, Hargrave PA, Arendt A, McDowell JH. Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA. Proc Natl Acad Sci USA 1998; 95:10620-5.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10620-10625
-
-
Deretic, D.1
Schmerl, S.2
Hargrave, P.A.3
Arendt, A.4
McDowell, J.H.5
-
60
-
-
14744272294
-
Rhodopsin C-terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4)
-
Deretic D, Williams AH, Ransom N, Morel V, Hargrave PA, Arendt A. Rhodopsin C-terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4). Proc Natl Acad Sci USA 2005; 102:3301-6.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 3301-3306
-
-
Deretic, D.1
Williams, A.H.2
Ransom, N.3
Morel, V.4
Hargrave, P.A.5
Arendt, A.6
-
61
-
-
0034697971
-
Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors
-
Marszalek JR, Liu X, Roberts EA, Chui D, Marth JD, Williams DS, Goldstein LS. Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell 2000; 102:175-87.
-
(2000)
Cell
, vol.102
, pp. 175-187
-
-
Marszalek, J.R.1
Liu, X.2
Roberts, E.A.3
Chui, D.4
Marth, J.D.5
Williams, D.S.6
Goldstein, L.S.7
-
62
-
-
53949088669
-
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
-
Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int 2008; 74:1139-49.
-
(2008)
Kidney Int
, vol.74
, pp. 1139-1149
-
-
Eley, L.1
Gabrielides, C.2
Adams, M.3
Johnson, C.A.4
Hildebrandt, F.5
Sayer, J.A.6
-
63
-
-
75749156683
-
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
-
Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet 2010; 42:175-80.
-
(2010)
Nat Genet
, vol.42
, pp. 175-180
-
-
Louie, C.M.1
Caridi, G.2
Lopes, V.S.3
Brancati, F.4
Kispert, A.5
Lancaster, M.A.6
Schlossman, A.M.7
Otto, E.A.8
Leitges, M.9
Gröne, H.J.10
Lopez, I.11
Gudiseva, H.V.12
O'Toole, J.F.13
Vallespin, E.14
Ayyagari, R.15
Ayuso, C.16
Cremers, F.P.17
den Hollander, A.I.18
Koenekoop, R.K.19
Dallapiccola, B.20
Ghiggeri, G.M.21
Hildebrandt, F.22
Valente, E.M.23
Williams, D.S.24
Gleeson, J.G.25
more..
|