-
1
-
-
36248984838
-
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome
-
Abd-El-Barr MM, Sykoudis K, Andrabi S, Eichers ER, Pennesi ME, Tan PL, Wilson JH, Katsanis N, Lupski JR, Wu SM (2007) Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res 47:3394-3407.
-
(2007)
Vision Res
, vol.47
, pp. 3394-3407
-
-
Abd-El-Barr, M.M.1
Sykoudis, K.2
Andrabi, S.3
Eichers, E.R.4
Pennesi, M.E.5
Tan, P.L.6
Wilson, J.H.7
Katsanis, N.8
Lupski, J.R.9
Wu, S.M.10
-
3
-
-
0037117560
-
Activation of mislocalized opsin kills rod cells: A novel mechanism for rod cell death in retinal disease
-
Alfinito PD, Townes-Anderson E (2002) Activation of mislocalized opsin kills rod cells: a novel mechanism for rod cell death in retinal disease. Proc Natl Acad Sci U S A 99:5655-5660.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 5655-5660
-
-
Alfinito, P.D.1
Townes-Anderson, E.2
-
5
-
-
0026770736
-
Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies
-
Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI, McInnes RR (1992) Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8:1171-1184.
-
(1992)
Neuron
, vol.8
, pp. 1171-1184
-
-
Bascom, R.A.1
Manara, S.2
Collins, L.3
Molday, R.S.4
Kalnins, V.I.5
McInnes, R.R.6
-
6
-
-
0037225725
-
Basal body/centriole assembly and continuity
-
Beisson J, Wright M (2003) Basal body/centriole assembly and continuity. Curr Opin Cell Biol 15:96-104.
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 96-104
-
-
Beisson, J.1
Wright, M.2
-
7
-
-
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 (2006) 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 15:1847-1857.
-
(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..
-
9
-
-
61449120175
-
Accumulation of rhodopsin in late endosomes triggers photoreceptor cell degeneration
-
Chinchore Y, Mitra A, Dolph PJ (2009) Accumulation of rhodopsin in late endosomes triggers photoreceptor cell degeneration. PLoS Genet 5:e1000377.
-
(2009)
PLoS Genet
, vol.5
-
-
Chinchore, Y.1
Mitra, A.2
Dolph, P.J.3
-
10
-
-
0024520588
-
The cGMP-gated channel of bovine rod photoreceptors is localized exclusively in the plasma membrane
-
Cook NJ, Molday LL, Reid D, Kaupp UB, Molday RS (1989) The cGMP-gated channel of bovine rod photoreceptors is localized exclusively in the plasma membrane. J Biol Chem 264:6996-6999.
-
(1989)
J Biol Chem
, vol.264
, pp. 6996-6999
-
-
Cook, N.J.1
Molday, L.L.2
Reid, D.3
Kaupp, U.B.4
Molday, R.S.5
-
11
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP (2008) Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 27:391-419.
-
(2008)
Prog Retin Eye Res
, vol.27
, pp. 391-419
-
-
Den Hollander, A.I.1
Roepman, R.2
Koenekoop, R.K.3
Cremers, F.P.4
-
12
-
-
0031426863
-
Rab proteins and post-Golgi trafficking of rhodopsin in photoreceptor cells
-
Deretic D (1997) Rab proteins and post-Golgi trafficking of rhodopsin in photoreceptor cells. Electrophoresis 18:2537-2541.
-
(1997)
Electrophoresis
, vol.18
, pp. 2537-2541
-
-
Deretic, D.1
-
13
-
-
33750607737
-
A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity
-
Deretic D (2006) A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity. Vision Res 46:4427-4433.
-
(2006)
Vision Res
, vol.46
, pp. 4427-4433
-
-
Deretic, D.1
-
14
-
-
0028817222
-
Rab8 in retinal photoreceptors may participate in rhodopsin transport and in rod outer segment disk morphogenesis
-
Deretic D, Huber LA, Ransom N, Mancini M, Simons K, Papermaster DS (1995) rab8 in retinal photoreceptors may participate in rhodopsin transport and in rod outer segment disk morphogenesis. J Cell Sci 108:215-224.
-
(1995)
J Cell Sci
, vol.108
, pp. 215-224
-
-
Deretic, D.1
Huber, L.A.2
Ransom, N.3
Mancini, M.4
Simons, K.5
Papermaster, D.S.6
-
15
-
-
8844271686
-
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria
-
Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 75:979-987.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 979-987
-
-
Dixon-Salazar, T.1
Silhavy, J.L.2
Marsh, S.E.3
Louie, C.M.4
Scott, L.C.5
Gururaj, A.6
Al-Gazali, L.7
Al-Tawari, A.A.8
Kayserili, H.9
Sztriha, L.10
Gleeson, J.G.11
-
16
-
-
58149240676
-
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies
-
Doering JE, Kane K, Hsiao YC, Yao C, Shi B, Slowik AD, Dhagat B, Scott DD, Ault JG, Page-McCaw PS, Ferland RJ (2008) Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. J Comp Neurol 511:238-256.
-
(2008)
J Comp Neurol
, vol.511
, pp. 238-256
-
-
Doering, J.E.1
Kane, K.2
Hsiao, Y.C.3
Yao, C.4
Shi, B.5
Slowik, A.D.6
Dhagat, B.7
Scott, D.D.8
Ault, J.G.9
Page-McCaw, P.S.10
Ferland, R.J.11
-
17
-
-
0025721075
-
A three-base-pair deletion in the peripherin-RD5 gene in one form of retinitis pigmentosa
-
Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P(1991)Athree-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354:478-480. (Pubitemid 21896863)
-
(1991)
Nature
, vol.354
, Issue.6353
, pp. 478-480
-
-
Farrar, G.J.1
Kenna, P.2
Jordan, S.A.3
Kumar-Singh, R.4
Humphries, M.M.5
Sharp, E.M.6
Sheils, D.M.7
Humphries, P.8
-
18
-
-
4444311117
-
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
-
Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 36:1008-1013.
-
(2004)
Nat Genet
, vol.36
, pp. 1008-1013
-
-
Ferland, R.J.1
Eyaid, W.2
Collura, R.V.3
Tully, L.D.4
Hill, R.S.5
Al-Nouri, D.6
Al-Rumayyan, A.7
Topcu, M.8
Gascon, G.9
Bodell, A.10
Shugart, Y.Y.11
Ruvolo, M.12
Walsh, C.A.13
-
19
-
-
0015335860
-
The ciliary necklace. A ciliary membrane specialization
-
Gilula NB, Satir P (1972) The ciliary necklace. A ciliary membrane specialization. J Cell Biol 53:494-509.
-
(1972)
J Cell Biol
, vol.53
, pp. 494-509
-
-
Gilula, N.B.1
Satir, P.2
-
20
-
-
34249871086
-
Nephronophthisis-associated ciliopathies
-
Hildebrandt F, Zhou W (2007) Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 18:1855-1871.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1855-1871
-
-
Hildebrandt, F.1
Zhou, W.2
-
21
-
-
0035853834
-
Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors RPGR to the Connecting Cilium
-
DOI 10.1074/jbc.M009351200
-
Hong DH, Yue G, Adamian M, Li T (2001) 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 276:12091-12099. (Pubitemid 37385374)
-
(2001)
Journal of Biological Chemistry
, vol.276
, Issue.15
, pp. 12091-12099
-
-
Hong, D.-H.1
Yue, G.2
Adamian, M.3
Li, T.4
-
22
-
-
70349569932
-
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
-
Hsiao YC, Tong ZJ, Westfall JE, Ault JG, Page-McCaw PS, Ferland RJ (2009) Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet 18:3926-3941.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3926-3941
-
-
Hsiao, Y.C.1
Tong, Z.J.2
Westfall, J.E.3
Ault, J.G.4
Page-McCaw, P.S.5
Ferland, R.J.6
-
23
-
-
0036720981
-
Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations
-
DOI 10.1128/JVI.76.18.9046-9059.2002
-
Jiang X, Hanna Z, Kaouass M, Girard L, Jolicoeur P (2002) Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations. J Virol 76: 9046-9059. (Pubitemid 34919863)
-
(2002)
Journal of Virology
, vol.76
, Issue.18
, pp. 9046-9059
-
-
Jiang, X.1
Hanna, Z.2
Kaouass, M.3
Girard, L.4
Jolicoeur, P.5
-
24
-
-
0025720710
-
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
-
Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354:480-483. (Pubitemid 21896864)
-
(1991)
Nature
, vol.354
, Issue.6353
, pp. 480-483
-
-
Kajiwara, K.1
Hahn, L.B.2
Mukai, S.3
Travis, G.H.4
Berson, E.L.5
Dryja, T.P.6
-
25
-
-
56049117628
-
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
-
Kim J, Krishnaswami SR, Gleeson JG (2008) CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet 17:3796-3805.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3796-3805
-
-
Kim, J.1
Krishnaswami, S.R.2
Gleeson, J.G.3
-
26
-
-
34347204136
-
Transport of truncated rhodopsin and its effects on rod function and degeneration
-
Lee ES, Flannery JG (2007) Transport of truncated rhodopsin and its effects on rod function and degeneration. Invest Ophthalmol Vis Sci 48:2868-2876.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 2868-2876
-
-
Lee, E.S.1
Flannery, J.G.2
-
27
-
-
0036140012
-
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors
-
Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA (2002) Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci 43:22-32.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 22-32
-
-
Liu, Q.1
Zhou, J.2
Daiger, S.P.3
Farber, D.B.4
Heckenlively, J.R.5
Smith, J.E.6
Sullivan, L.S.7
Zuo, J.8
Milam, A.H.9
Pierce, E.A.10
-
28
-
-
0141542568
-
RP1 is required for the correct stacking of outer segment discs
-
Liu Q, Lyubarsky A, Skalet JH, Pugh EN Jr, Pierce EA (2003) RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci 44:4171-4183.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 4171-4183
-
-
Liu, Q.1
Lyubarsky, A.2
Skalet, J.H.3
Pugh Jr., E.N.4
Pierce, E.A.5
-
29
-
-
3242749615
-
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein
-
Liu Q, Zuo J, Pierce EA (2004) The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci 24:6427-6436.
-
(2004)
J Neurosci
, vol.24
, pp. 6427-6436
-
-
Liu, Q.1
Zuo, J.2
Pierce, E.A.3
-
30
-
-
34548429735
-
The proteome of the mouse photoreceptor sensory cilium complex
-
Liu Q, Tan G, Levenkova N, Li T, Pugh EN Jr, Rux JJ, Speicher DW, Pierce EA (2007) The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics 6:1299-1317.
-
(2007)
Mol Cell Proteomics
, vol.6
, pp. 1299-1317
-
-
Liu, Q.1
Tan, G.2
Levenkova, N.3
Li, T.4
Pugh Jr., E.N.5
Rux, J.J.6
Speicher, D.W.7
Pierce, E.A.8
-
31
-
-
64049089236
-
The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background
-
Liu Q, Saveliev A, Pierce EA (2009) The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. Invest Ophthalmol Vis Sci 50:1566-1574.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 1566-1574
-
-
Liu, Q.1
Saveliev, A.2
Pierce, E.A.3
-
32
-
-
0032085412
-
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
-
Liu X, Ondek B, Williams DS (1998) Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. Nat Genet 19:117-118.
-
(1998)
Nat Genet
, vol.19
, pp. 117-118
-
-
Liu, X.1
Ondek, B.2
Williams, D.S.3
-
33
-
-
0033178341
-
Myosin VIIa participates in opsin transport through the photoreceptor cilium
-
Liu X, Udovichenko IP, Brown SD, Steel KP, Williams DS (1999) Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci 19:6267-6274.
-
(1999)
J Neurosci
, vol.19
, pp. 6267-6274
-
-
Liu, X.1
Udovichenko, I.P.2
Brown, S.D.3
Steel, K.P.4
Williams, D.S.5
-
34
-
-
0019851385
-
Identification of a synaptic vesicle-specific membrane protein with a wide distribution in neuronal and neurosecretory tissue
-
Matthew WD, Tsavaler L, Reichardt LF (1981) Identification of a synaptic vesicle-specific membrane protein with a wide distribution in neuronal and neurosecretory tissue. J Cell Biol 91:257-269.
-
(1981)
J Cell Biol
, vol.91
, pp. 257-269
-
-
Matthew, W.D.1
Tsavaler, L.2
Reichardt, L.F.3
-
35
-
-
0032421235
-
Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases
-
Molday RS (1998) Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 39:2491-2513.
-
(1998)
The Friedenwald Lecture. Invest Ophthalmol Vis Sci
, vol.39
, pp. 2491-2513
-
-
Molday, R.S.1
-
36
-
-
0020713543
-
Monoclonal antibodies to rhodopsin: Characterization, cross-reactivity, and application as structural probes
-
Molday RS, MacKenzie D (1983) Monoclonal antibodies to rhodopsin: characterization, cross-reactivity, and application as structural probes. Biochemistry (Mosc) 22:653-660.
-
(1983)
Biochemistry (Mosc)
, vol.22
, pp. 653-660
-
-
Molday, R.S.1
MacKenzie, D.2
-
37
-
-
0035166819
-
Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods
-
Moritz OL, Tam BM, Hurd LL, Peranen J, Deretic D, Papermaster DS (2001) Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods. Mol Biol Cell 12:2341-2351.
-
(2001)
Mol Biol Cell
, vol.12
, pp. 2341-2351
-
-
Moritz, O.L.1
Tam, B.M.2
Hurd, L.L.3
Peranen, J.4
Deretic, D.5
Papermaster, D.S.6
-
38
-
-
0032525310
-
Two phases of rod photoreceptor differentiation during rat retinal development
-
Morrow EM, Belliveau MJ, Cepko CL (1998) Two phases of rod photoreceptor differentiation during rat retinal development. J Neurosci 18:3738-3748.
-
(1998)
J Neurosci
, vol.18
, pp. 3738-3748
-
-
Morrow, E.M.1
Belliveau, M.J.2
Cepko, C.L.3
-
39
-
-
34250012834
-
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
-
Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201-1213.
-
(2007)
Cell
, vol.129
, pp. 1201-1213
-
-
Nachury, M.V.1
Loktev, A.V.2
Zhang, Q.3
Westlake, C.J.4
Peranen, J.5
Merdes, A.6
Slusarski, D.C.7
Scheller, R.H.8
Bazan, J.F.9
Sheffield, V.C.10
Jackson, P.K.11
-
40
-
-
0027401094
-
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 on th RDS gene
-
DOI 10.1038/ng0393-202
-
Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM (1993) Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 3:202-207. (Pubitemid 23096553)
-
(1993)
Nature Genetics
, vol.3
, Issue.3
, pp. 202-207
-
-
Nichols, B.E.1
Sheffield, V.C.2
Vandenburgh, K.3
Drack, A.V.4
Kimura, A.E.5
Stone, E.M.6
-
41
-
-
9344261783
-
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
-
Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC (2004) Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A 101:16588-16593.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 16588-16593
-
-
Nishimura, D.Y.1
Fath, M.2
Mullins, R.F.3
Searby, C.4
Andrews, M.5
Davis, R.6
Andorf, J.L.7
Mykytyn, K.8
Swiderski, R.E.9
Yang, B.10
Carmi, R.11
Stone, E.M.12
Sheffield, V.C.13
-
42
-
-
34250891981
-
The primary cilium: Keeper of the key to cell division
-
Pan J, Snell W (2007) The primary cilium: keeper of the key to cell division. Cell 129:1255-1257.
-
(2007)
Cell
, vol.129
, pp. 1255-1257
-
-
Pan, J.1
Snell, W.2
-
43
-
-
33645774086
-
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
-
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet 43:334-339.
-
(2006)
J Med Genet
, vol.43
, pp. 334-339
-
-
Parisi, M.A.1
Doherty, D.2
Eckert, M.L.3
Shaw, D.W.4
Ozyurek, H.5
Aysun, S.6
Giray, O.7
Al Swaid, A.8
Al Shahwan, S.9
Dohayan, N.10
Bakhsh, E.11
Indridason, O.S.12
Dobyns, W.B.13
Bennett, C.L.14
Chance, P.F.15
Glass, I.A.16
-
45
-
-
34250758641
-
HEF1-dependent Aurora a activation induces disassembly of the primary cilium
-
Pugacheva EN, Jablonski SA, Hartman TR, Henske EP, Golemis EA (2007) HEF1-dependent Aurora A activation induces disassembly of the primary cilium. Cell 129:1351-1363.
-
(2007)
Cell
, vol.129
, pp. 1351-1363
-
-
Pugacheva, E.N.1
Jablonski, S.A.2
Hartman, T.R.3
Henske, E.P.4
Golemis, E.A.5
-
47
-
-
0942276413
-
Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina
-
Rutherford AD, Dhomen N, Smith HK, Sowden JC (2004) Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina. Invest Ophthalmol Vis Sci 45:375-384.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 375-384
-
-
Rutherford, A.D.1
Dhomen, N.2
Smith, H.K.3
Sowden, J.C.4
-
48
-
-
33947384151
-
Overview of structure and function of mammalian cilia
-
Satir P, Christensen ST (2007) Overview of structure and function of mammalian cilia. Annu Rev Physiol 69:377-400.
-
(2007)
Annu Rev Physiol
, vol.69
, pp. 377-400
-
-
Satir, P.1
Christensen, S.T.2
-
49
-
-
38349000827
-
Intraflagellar transport motors in cilia: Moving along the cell's antenna
-
Scholey JM (2008) Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol 180:23-29.
-
(2008)
J Cell Biol
, vol.180
, pp. 23-29
-
-
Scholey, J.M.1
-
50
-
-
33646164168
-
Intraflagellar transport and cilium-based signaling
-
Scholey JM, Anderson KV (2006) Intraflagellar transport and cilium-based signaling. Cell 125:439-442.
-
(2006)
Cell
, vol.125
, pp. 439-442
-
-
Scholey, J.M.1
Anderson, K.V.2
-
51
-
-
0001577217
-
Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells
-
Sorokin S (1962) Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells. J Cell Biol 15:363-377.
-
(1962)
J Cell Biol
, vol.15
, pp. 363-377
-
-
Sorokin, S.1
-
52
-
-
48549102438
-
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease
-
Tsang WY, Bossard C, Khanna H, Peranen J, Swaroop A, Malhotra V, Dynlacht BD (2008) CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell 15:187-197.
-
(2008)
Dev Cell
, vol.15
, pp. 187-197
-
-
Tsang, W.Y.1
Bossard, C.2
Khanna, H.3
Peranen, J.4
Swaroop, A.5
Malhotra, V.6
Dynlacht, B.D.7
-
53
-
-
29944439508
-
Identification of the first AHI1 gene mutations in nephronophthisis- associated Joubert syndrome
-
Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol 21:32-35.
-
(2006)
Pediatr Nephrol
, vol.21
, pp. 32-35
-
-
Utsch, B.1
Sayer, J.A.2
Attanasio, M.3
Pereira, R.R.4
Eccles, M.5
Hennies, H.C.6
Otto, E.A.7
Hildebrandt, F.8
-
54
-
-
0027447531
-
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
-
Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, Bird A (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 3:213-218.
-
(1993)
Nat Genet
, vol.3
, pp. 213-218
-
-
Wells, J.1
Wroblewski, J.2
Keen, J.3
Inglehearn, C.4
Jubb, C.5
Eckstein, A.6
Jay, M.7
Arden, G.8
Bhattacharya, S.9
Fitzke, F.10
Bird, A.11
-
55
-
-
0014292478
-
Passage of newly formed protein through the connecting cilium of retina rods in the frog
-
Young RW (1968) Passage of newly formed protein through the connecting cilium of retina rods in the frog. J Ultrastruct Res 23:462-473.
-
(1968)
J Ultrastruct Res
, vol.23
, pp. 462-473
-
-
Young, R.W.1
-
56
-
-
40349116350
-
The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families
-
Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG (2008) The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology 70:556-565.
-
(2008)
Neurology
, vol.70
, pp. 556-565
-
-
Zaki, M.S.1
Abdel-Aleem, A.2
Abdel-Salam, G.3
Marsh, S.E.4
Silhavy, J.L.5
Barkovich, A.J.6
Ross, M.E.7
Saleem, S.N.8
Dobyns, W.B.9
Gleeson, J.G.10
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