-
1
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley, S.J., Badano, J.L., Blacque, O.E., Hill, J., Hoskins, B.E., Leitch, C.C., Kim, J.C., Ross, A.J., Eichers, E.R., Teslovich, T.M., et al. 2003. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425: 628-633.
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
Hill, J.4
Hoskins, B.E.5
Leitch, C.C.6
Kim, J.C.7
Ross, A.J.8
Eichers, E.R.9
Teslovich, T.M.10
-
2
-
-
0037371508
-
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
-
Badano, J.L., Ansley, S.J., Leitch, C.C., Lewis, R.A., Lupski, J.R., and Katsanis, N. 2003. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am. J. Hum. Genet. 72: 650-658.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 650-658
-
-
Badano, J.L.1
Ansley, S.J.2
Leitch, C.C.3
Lewis, R.A.4
Lupski, J.R.5
Katsanis, N.6
-
3
-
-
0036406843
-
Hedgehog signaling and human disease
-
Bale, A.E. 2002. Hedgehog signaling and human disease. Annu. Rev. Genomics Hum. Genet. 3: 47-65.
-
(2002)
Annu. Rev. Genomics Hum. Genet.
, vol.3
, pp. 47-65
-
-
Bale, A.E.1
-
4
-
-
0027160919
-
Odorant-selective genes and neurons mediate olfaction in C. elegans
-
Bargmann, C.I., Hartwieg, E., and Horvitz, H.R. 1993. Odorant-selective genes and neurons mediate olfaction in C. elegans. Cell 74: 515-527.
-
(1993)
Cell
, vol.74
, pp. 515-527
-
-
Bargmann, C.I.1
Hartwieg, E.2
Horvitz, H.R.3
-
5
-
-
0344496513
-
The tetratricopeptide repeat: A structural motif mediating protein-protein interactions
-
Blatch, G.L. and Lassle, M. 1999. The tetratricopeptide repeat: A structural motif mediating protein-protein interactions. Bioessays 21: 932-939.
-
(1999)
Bioessays
, vol.21
, pp. 932-939
-
-
Blatch, G.L.1
Lassle, M.2
-
6
-
-
0041927742
-
Intraflagellar transport in the unicellular green alga, Chlamydomonas reinhardtii
-
Cole, D.G. 2003. Intraflagellar transport in the unicellular green alga, Chlamydomonas reinhardtii. Protist 154: 181-191.
-
(2003)
Protist
, vol.154
, pp. 181-191
-
-
Cole, D.G.1
-
7
-
-
0031750484
-
Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons
-
Cole, D.G., Diener, D.R., Himelblau, A.L., Beech, P.L., Fuster, J.C., and Rosenbaum, J.L. 1998. Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons. J. Cell Biol. 141: 993-1008.
-
(1998)
J. Cell Biol.
, vol.141
, pp. 993-1008
-
-
Cole, D.G.1
Diener, D.R.2
Himelblau, A.L.3
Beech, P.L.4
Fuster, J.C.5
Rosenbaum, J.L.6
-
8
-
-
0031930963
-
Analysis of osm-6, a gene that affects sensory cilium structure and sensory neuron function in Caenorhabditis elegans
-
Collet, J., Spike, C.A., Lundquist, E.A., Shaw, J.E., and Herman, R.K. 1998. Analysis of osm-6, a gene that affects sensory cilium structure and sensory neuron function in Caenorhabditis elegans. Genetics 148: 187-200.
-
(1998)
Genetics
, vol.148
, pp. 187-200
-
-
Collet, J.1
Spike, C.A.2
Lundquist, E.A.3
Shaw, J.E.4
Herman, R.K.5
-
9
-
-
0035899865
-
Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles
-
Deane, J.A., Cole, D.G., Seeley, E.S., Diener, D.R., and Rosenbaum, J.L. 2001. Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles. Curr. Biol. 11: 1586-1590.
-
(2001)
Curr. Biol.
, vol.11
, pp. 1586-1590
-
-
Deane, J.A.1
Cole, D.G.2
Seeley, E.S.3
Diener, D.R.4
Rosenbaum, J.L.5
-
10
-
-
0032736068
-
A novel WD40 protein, CHE-2, acts cell-autonomously in the formation of C. elegans sensory cilia
-
Fujiwara, M., Ishihara, T., and Katsura, I. 1999. A novel WD40 protein, CHE-2, acts cell-autonomously in the formation of C. elegans sensory cilia. Development 126: 4839-4848.
-
(1999)
Development
, vol.126
, pp. 4839-4848
-
-
Fujiwara, M.1
Ishihara, T.2
Katsura, I.3
-
11
-
-
0034987372
-
The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms
-
Haycraft, C.J., Swoboda, P., Taulman, P.D., Thomas, J.H., and Yoder, B.K. 2001. The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. Development 128: 1493-1505.
-
(2001)
Development
, vol.128
, pp. 1493-1505
-
-
Haycraft, C.J.1
Swoboda, P.2
Taulman, P.D.3
Thomas, J.H.4
Yoder, B.K.5
-
12
-
-
0037376552
-
Identification of CHE-13, a novel intraflagellar transport protein required for cilia formation
-
Haycraft, C.J., Schafer, J.C., Zhang, Q., Taulman, P.D.; and Yoder, B.K. 2003. Identification of CHE-13, a novel intraflagellar transport protein required for cilia formation. Exp. Cell Res. 284: 251-263.
-
(2003)
Exp. Cell Res.
, vol.284
, pp. 251-263
-
-
Haycraft, C.J.1
Schafer, J.C.2
Zhang, Q.3
Taulman, P.D.4
Yoder, B.K.5
-
13
-
-
0242581681
-
Hedgehog signalling in the mouse requires intraflagellar transport proteins
-
Huangfu, D., Liu, A., Rakeman, A.S., Murcia, N.S., Niswander, L., and Anderson, K.V. 2003. Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 426: 83-87.
-
(2003)
Nature
, vol.426
, pp. 83-87
-
-
Huangfu, D.1
Liu, A.2
Rakeman, A.S.3
Murcia, N.S.4
Niswander, L.5
Anderson, K.V.6
-
14
-
-
0035795413
-
Protein particles in Chlamydomonas flagella undergo a transport cycle consisting of four phases
-
Iomini, C., Babaev-Khaimov, V., Sassaroli, M., and Piperno, G. 2001. Protein particles in Chlamydomonas flagella undergo a transport cycle consisting of four phases. J. Cell Biol. 153: 13-24.
-
(2001)
J. Cell Biol.
, vol.153
, pp. 13-24
-
-
Iomini, C.1
Babaev-Khaimov, V.2
Sassaroli, M.3
Piperno, G.4
-
15
-
-
0036226347
-
Novel sequences propel familiar folds
-
Jawad, Z. and Paoli, M. 2002. Novel sequences propel familiar folds. Structure 10: 447-454.
-
(2002)
Structure
, vol.10
, pp. 447-454
-
-
Jawad, Z.1
Paoli, M.2
-
16
-
-
0033822064
-
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
-
Katsanis, N., Beales, P.L., Woods, M.O., Lewis, R.A., Green, J.S., Parfrey, P.S., Ansley, S.J., Davidson, W.S., and Lupski, J.R. 2000. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat. Genet. 26: 67-70.
-
(2000)
Nat. Genet.
, vol.26
, pp. 67-70
-
-
Katsanis, N.1
Beales, P.L.2
Woods, M.O.3
Lewis, R.A.4
Green, J.S.5
Parfrey, P.S.6
Ansley, S.J.7
Davidson, W.S.8
Lupski, J.R.9
-
17
-
-
0035475115
-
Exploring the molecular basis of Bardet-Biedl syndrome
-
Katsanis, N., Lupski, J.R., and Beales, P.L. 2001. Exploring the molecular basis of Bardet-Biedl syndrome. Hum. Mol. Genet. 10: 2293-2299.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2293-2299
-
-
Katsanis, N.1
Lupski, J.R.2
Beales, P.L.3
-
18
-
-
0033615982
-
Centriolar satellites: Molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis
-
Kubo, A., Sasaki, H., Yuba-Kubo, A., Tsukita, S., and Shiina, N. 1999. Centriolar satellites: Molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis. J. Cell Biol. 147: 969-980.
-
(1999)
J. Cell Biol.
, vol.147
, pp. 969-980
-
-
Kubo, A.1
Sasaki, H.2
Yuba-Kubo, A.3
Tsukita, S.4
Shiina, N.5
-
19
-
-
0028322016
-
Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice
-
Moyer, J.H., Lee-Tischler, M.J., Kwon, H.Y., Schrick, J.J., Avner, E.D., Sweeney, W.E., Godfrey, V.L., Cacheiro, N.L., Wilkinson, J.E., and Woychik, R.P. 1994. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 264: 1329-1333.
-
(1994)
Science
, vol.264
, pp. 1329-1333
-
-
Moyer, J.H.1
Lee-Tischler, M.J.2
Kwon, H.Y.3
Schrick, J.J.4
Avner, E.D.5
Sweeney, W.E.6
Godfrey, V.L.7
Cacheiro, N.L.8
Wilkinson, J.E.9
Woychik, R.P.10
-
20
-
-
0034042763
-
The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination
-
Murcia, N.S., Richards, W.G., Yoder, B.K., Mucenski, M.L., Dunlap, J.R., and Woychik, R.P. 2000. The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination. Development 127: 2347-2355.
-
(2000)
Development
, vol.127
, pp. 2347-2355
-
-
Murcia, N.S.1
Richards, W.G.2
Yoder, B.K.3
Mucenski, M.L.4
Dunlap, J.R.5
Woychik, R.P.6
-
21
-
-
0034967274
-
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
-
Mykytyn, K., Braun, T., Carmi, R., Haider, N.B., Searby, C.C., Shastri, M., Beck, G., Wright, A.F., Iannaccone, A., Elbedour, K., et al. 2001. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat. Genet. 28: 188-191.
-
(2001)
Nat. Genet.
, vol.28
, pp. 188-191
-
-
Mykytyn, K.1
Braun, T.2
Carmi, R.3
Haider, N.B.4
Searby, C.C.5
Shastri, M.6
Beck, G.7
Wright, A.F.8
Iannaccone, A.9
Elbedour, K.10
-
22
-
-
0036699538
-
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
-
Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S., Braun, T., Streb, L.M., Cornier, A.S., Cox, G.F., et al. 2002. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat. Genet. 31: 435-438.
-
(2002)
Nat. Genet.
, vol.31
, pp. 435-438
-
-
Mykytyn, K.1
Nishimura, D.Y.2
Searby, C.C.3
Shastri, M.4
Yen, H.J.5
Beck, J.S.6
Braun, T.7
Streb, L.M.8
Cornier, A.S.9
Cox, G.F.10
-
23
-
-
0035311942
-
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
-
Nishimura, D.Y., Searby, C.C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A.B., Lam, B.L., Powell, B.R., Swiderski, R.E., Bugge, K.E., et al. 2001. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum. Mol. Genet. 10: 865-874.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 865-874
-
-
Nishimura, D.Y.1
Searby, C.C.2
Carmi, R.3
Elbedour, K.4
Van Maldergem, L.5
Fulton, A.B.6
Lam, B.L.7
Powell, B.R.8
Swiderski, R.E.9
Bugge, K.E.10
-
24
-
-
0036901166
-
Intraflagellar transport and cilia-dependent diseases
-
Pazour, G.J. and Rosenbaum, J.L. 2002. Intraflagellar transport and cilia-dependent diseases. Trends Cell Biol. 12: 551-555.
-
(2002)
Trends Cell Biol.
, vol.12
, pp. 551-555
-
-
Pazour, G.J.1
Rosenbaum, J.L.2
-
25
-
-
0034735526
-
Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella
-
Pazour, G.J., Dickert, B.L., Vucica, Y., Seeley, E.S., Rosenbaum, J.L., Witman, G.B., and Cole, D.G. 2000. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J. Cell Biol. 151: 709-718.
-
(2000)
J. Cell Biol.
, vol.151
, pp. 709-718
-
-
Pazour, G.J.1
Dickert, B.L.2
Vucica, Y.3
Seeley, E.S.4
Rosenbaum, J.L.5
Witman, G.B.6
Cole, D.G.7
-
26
-
-
0036544554
-
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
-
Pazour, G.J., Baker, S.A., Deane, J.A., Cole, D.G., Dickert, B.L., Rosenbaum, J.L., Witman, G.B., and Besharse, J.C. 2002. The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance. J. Cell Biol. 157: 103-113.
-
(2002)
J. Cell Biol.
, vol.157
, pp. 103-113
-
-
Pazour, G.J.1
Baker, S.A.2
Deane, J.A.3
Cole, D.G.4
Dickert, B.L.5
Rosenbaum, J.L.6
Witman, G.B.7
Besharse, J.C.8
-
27
-
-
0022792740
-
Mutant sensory cilia in the nematode Caenorhabditis elegans
-
Perkins, L.A., Hedgecock, E.M., Thomson, J.N., and Culotti, J.G. 1986. Mutant sensory cilia in the nematode Caenorhabditis elegans. Dev. Biol. 117: 456-487.
-
(1986)
Dev. Biol.
, vol.117
, pp. 456-487
-
-
Perkins, L.A.1
Hedgecock, E.M.2
Thomson, J.N.3
Culotti, J.G.4
-
28
-
-
0030955070
-
Transport of a novel complex in the cytoplasmic matrix of Chlamydomonas flagella
-
Piperno, G. and Mead, K. 1997. Transport of a novel complex in the cytoplasmic matrix of Chlamydomonas flagella. Proc. Natl. Acad. Sci. 94: 4457-4462.
-
(1997)
Proc. Natl. Acad. Sci.
, vol.94
, pp. 4457-4462
-
-
Piperno, G.1
Mead, K.2
-
29
-
-
0035916823
-
An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons
-
Qin, H., Rosenbaum, J.L., and Barr, M.M. 2001. An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons. Curr. Biol. 11: 457-461.
-
(2001)
Curr. Biol.
, vol.11
, pp. 457-461
-
-
Qin, H.1
Rosenbaum, J.L.2
Barr, M.M.3
-
30
-
-
1642382220
-
Intraflagellar transport (IFT) cargo: IFT transports flagellar precursors to the tip and turnover products to the cell body
-
Qin, H., Diener, D.R., Geimer, S., Cole, D.G., and Rosenbaum, J.L. 2004. Intraflagellar transport (IFT) cargo: IFT transports flagellar precursors to the tip and turnover products to the cell body. J. Cell Biol. 164: 255-266.
-
(2004)
J. Cell Biol.
, vol.164
, pp. 255-266
-
-
Qin, H.1
Diener, D.R.2
Geimer, S.3
Cole, D.G.4
Rosenbaum, J.L.5
-
32
-
-
0037508889
-
XBX-1 encodes a dynein light intermediate chain required for retrograde intraflagellar transport and cilia assembly in Caenorhabditis elegans
-
Schafer, J.C., Haycraft, C.J., Thomas, J.H., Yoder, B.K., and Swoboda, P. 2003. XBX-1 encodes a dynein light intermediate chain required for retrograde intraflagellar transport and cilia assembly in Caenorhabditis elegans. Mol. Biol. Cell 14: 2057-2070.
-
(2003)
Mol. Biol. Cell
, vol.14
, pp. 2057-2070
-
-
Schafer, J.C.1
Haycraft, C.J.2
Thomas, J.H.3
Yoder, B.K.4
Swoboda, P.5
-
34
-
-
0033812186
-
Mutations in MKKS cause Bardet-Biedl syndrome
-
Slavotinek, A.M., Stone, E.M., Mykytyn, K., Heckenlively, J.R., Green, J.S., Heon, E., Musarella, M.A., Parfrey, P.S., Sheffield, V.C., and Biesecker, L.G. 2000. Mutations in MKKS cause Bardet-Biedl syndrome. Nat. Genet. 26: 15-16.
-
(2000)
Nat. Genet.
, vol.26
, pp. 15-16
-
-
Slavotinek, A.M.1
Stone, E.M.2
Mykytyn, K.3
Heckenlively, J.R.4
Green, J.S.5
Heon, E.6
Musarella, M.A.7
Parfrey, P.S.8
Sheffield, V.C.9
Biesecker, L.G.10
-
35
-
-
0028896987
-
Mutations affecting the chemosensory neurons of Caenorhabditis elegans
-
Starich, T.A., Herman, R.K., Kari, C.K., Yeh, W.H., Schackwitz, W.S., Schuyler, M.W., Collet, J., Thomas, J.H., and Riddle, D.L. 1995. Mutations affecting the chemosensory neurons of Caenorhabditis elegans. Genetics 139: 171-188.
-
(1995)
Genetics
, vol.139
, pp. 171-188
-
-
Starich, T.A.1
Herman, R.K.2
Kari, C.K.3
Yeh, W.H.4
Schackwitz, W.S.5
Schuyler, M.W.6
Collet, J.7
Thomas, J.H.8
Riddle, D.L.9
-
36
-
-
0043093689
-
Getting a grip on non-native proteins
-
Stirling, P.C., Lundin, V.F., and Leroux, M.R. 2003. Getting a grip on non-native proteins. EMBO Rep. 4: 565-570.
-
(2003)
EMBO Rep.
, vol.4
, pp. 565-570
-
-
Stirling, P.C.1
Lundin, V.F.2
Leroux, M.R.3
-
37
-
-
0034019637
-
Mutation of a gene encoding a putative chaperonin causes McKu-sick-Kaufman syndrome
-
Stone, D.L., Slavotinek, A., Bouffard, G.G., Banerjee-Basu, S., Baxevanis, A.D., Barr, M., and Biesecker, L.G. 2000. Mutation of a gene encoding a putative chaperonin causes McKu-sick-Kaufman syndrome. Nat. Genet. 25: 79-82.
-
(2000)
Nat. Genet.
, vol.25
, pp. 79-82
-
-
Stone, D.L.1
Slavotinek, A.2
Bouffard, G.G.3
Banerjee-Basu, S.4
Baxevanis, A.D.5
Barr, M.6
Biesecker, L.G.7
-
38
-
-
0033713259
-
The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans
-
Swoboda, P., Adler, H.T., and Thomas, J.H. 2000. The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans. Mol. Cell 5: 411-421.
-
(2000)
Mol. Cell
, vol.5
, pp. 411-421
-
-
Swoboda, P.1
Adler, H.T.2
Thomas, J.H.3
-
39
-
-
0035159015
-
Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia
-
Taulman, P.D., Haycraft, C.J., Balkovetz, D.F., and Yoder, B.K. 2001 . Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. Mol. Biol. Cell 12: 589-599.
-
(2001)
Mol. Biol. Cell
, vol.12
, pp. 589-599
-
-
Taulman, P.D.1
Haycraft, C.J.2
Balkovetz, D.F.3
Yoder, B.K.4
-
40
-
-
0034657306
-
CHE-3, a cytosolic dynein heavy chain, is required for sensory cilia structure and function in Caenorhabditis elegans
-
Wicks, S.R., de Vries, C.J., van Luenen, H.G., and Plasterk, R.H. 2000. CHE-3, a cytosolic dynein heavy chain, is required for sensory cilia structure and function in Caenorhabditis elegans. Dev. Biol. 221: 295-307.
-
(2000)
Dev. Biol.
, vol.221
, pp. 295-307
-
-
Wicks, S.R.1
De Vries, C.J.2
Van Luenen, H.G.3
Plasterk, R.H.4
-
41
-
-
0242418251
-
Loss of the Tg737 protein results in skeletal patterning defects
-
Zhang, Q., Murcia, N.S., Chittenden, L.R., Richards, W.G., Michaud, E.J., Woychik, R.P., and Yoder, B.K. 2003. Loss of the Tg737 protein results in skeletal patterning defects. Dev. Dyn. 227: 78-90.
-
(2003)
Dev. Dyn.
, vol.227
, pp. 78-90
-
-
Zhang, Q.1
Murcia, N.S.2
Chittenden, L.R.3
Richards, W.G.4
Michaud, E.J.5
Woychik, R.P.6
Yoder, B.K.7
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