-
1
-
-
79958047884
-
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
-
doi:10.1136/jmg.2011.088864
-
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet 48(6): 390-395. doi: 10. 1136/jmg. 2011. 088864.
-
(2011)
J Med Genet
, vol.48
, Issue.6
, pp. 390-395
-
-
Arts, H.H.1
Bongers, E.M.2
Mans, D.A.3
van Beersum, S.E.4
Oud, M.M.5
Bolat, E.6
Spruijt, L.7
Cornelissen, E.A.8
Schuurs-Hoeijmakers, J.H.9
de Leeuw, N.10
Cormier-Daire, V.11
Brunner, H.G.12
Knoers, N.V.13
Roepman, R.14
-
3
-
-
0037744859
-
The intraflagellar transport machinery of Chlamydomonas reinhardtii
-
Cole DG (2003) The intraflagellar transport machinery of Chlamydomonas reinhardtii. Traffic 4(7): 435-442.
-
(2003)
Traffic
, vol.4
, Issue.7
, pp. 435-442
-
-
Cole, D.G.1
-
4
-
-
58049208156
-
Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4
-
doi:10.1016/j.ydbio.2008.10.020
-
Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A (2009) Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4. Dev Biol 325(1): 225-237. doi: 10. 1016/j. ydbio. 2008. 10. 020.
-
(2009)
Dev Biol
, vol.325
, Issue.1
, pp. 225-237
-
-
Cortellino, S.1
Wang, C.2
Wang, B.3
Bassi, M.R.4
Caretti, E.5
Champeval, D.6
Calmont, A.7
Jarnik, M.8
Burch, J.9
Zaret, K.S.10
Larue, L.11
Bellacosa, A.12
-
5
-
-
77956393882
-
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
-
doi:10.1016/j.ajhg.2010.08.004
-
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 87(3): 418-423. doi: 10. 1016/j. ajhg. 2010. 08. 004.
-
(2010)
Am J Hum Genet
, vol.87
, Issue.3
, pp. 418-423
-
-
Gilissen, C.1
Arts, H.H.2
Hoischen, A.3
Spruijt, L.4
Mans, D.A.5
Arts, P.6
van Lier, B.7
Steehouwer, M.8
van Reeuwijk, J.9
Kant, S.G.10
Roepman, R.11
Knoers, N.V.12
Veltman, J.A.13
Brunner, H.G.14
-
6
-
-
79958715801
-
The retrograde IFT machinery of C. elegans cilia: two IFT dynein complexes?
-
doi:10.1371/journal.pone.0020995
-
Hao L, Efimenko E, Swoboda P, Scholey JM (2011) The retrograde IFT machinery of C. elegans cilia: two IFT dynein complexes? PLoS One 6(6): e20995. doi: 10. 1371/journal. pone. 0020995.
-
(2011)
PLoS One
, vol.6
, Issue.6
-
-
Hao, L.1
Efimenko, E.2
Swoboda, P.3
Scholey, J.M.4
-
7
-
-
0035795413
-
Protein particles in Chlamydomonas flagella undergo a transport cycle consisting of four phases
-
Iomini C, Babaev-Khaimov V, Sassaroli M, Piperno G (2001) Protein particles in Chlamydomonas flagella undergo a transport cycle consisting of four phases. J Cell Biol 153(1): 13-24.
-
(2001)
J Cell Biol
, vol.153
, Issue.1
, pp. 13-24
-
-
Iomini, C.1
Babaev-Khaimov, V.2
Sassaroli, M.3
Piperno, G.4
-
8
-
-
72449151681
-
Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii
-
doi:10.1534/genetics.109.101915
-
Iomini C, Li L, Esparza JM, Dutcher SK (2009) Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii. Genetics 183(3): 885-896. doi: 10. 1534/genetics. 109. 101915.
-
(2009)
Genetics
, vol.183
, Issue.3
, pp. 885-896
-
-
Iomini, C.1
Li, L.2
Esparza, J.M.3
Dutcher, S.K.4
-
9
-
-
23044441462
-
Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits
-
doi:10.1074/jbc.M505062200
-
Lucker BF, Behal RH, Qin H, Siron LC, Taggart WD, Rosenbaum JL, Cole DG (2005) Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits. J Biol Chem 280(30): 27688-27696. doi: 10. 1074/jbc. M505062200.
-
(2005)
J Biol Chem
, vol.280
, Issue.30
, pp. 27688-27696
-
-
Lucker, B.F.1
Behal, R.H.2
Qin, H.3
Siron, L.C.4
Taggart, W.D.5
Rosenbaum, J.L.6
Cole, D.G.7
-
10
-
-
79953718363
-
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis
-
doi:10.1016/j.ajhg.2011.03.015
-
Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet 88(4): 508-515. doi: 10. 1016/j. ajhg. 2011. 03. 015.
-
(2011)
Am J Hum Genet
, vol.88
, Issue.4
, pp. 508-515
-
-
Mill, P.1
Lockhart, P.J.2
Fitzpatrick, E.3
Mountford, H.S.4
Hall, E.A.5
Reijns, M.A.6
Keighren, M.7
Bahlo, M.8
Bromhead, C.J.9
Budd, P.10
Aftimos, S.11
Delatycki, M.B.12
Savarirayan, R.13
Jackson, I.J.14
Amor, D.J.15
-
11
-
-
33644779653
-
Dissecting the molecular mechanisms of intraflagellar transport in Chlamydomonas
-
Pedersen LB, Geimer S, Rosenbaum JL (2006) Dissecting the molecular mechanisms of intraflagellar transport in Chlamydomonas. Curr Biol 16(5): 450-459.
-
(2006)
Curr Biol
, vol.16
, Issue.5
, pp. 450-459
-
-
Pedersen, L.B.1
Geimer, S.2
Rosenbaum, J.L.3
-
12
-
-
0242625186
-
The microtubule plus end-tracking protein EB1 is localized to the flagellar tip and basal bodies in Chlamydomonas reinhardtii
-
Pedersen LB, Geimer S, Sloboda RD, Rosenbaum JL (2003) The microtubule plus end-tracking protein EB1 is localized to the flagellar tip and basal bodies in Chlamydomonas reinhardtii. Curr Biol 13(22): 1969-1974.
-
(2003)
Curr Biol
, vol.13
, Issue.22
, pp. 1969-1974
-
-
Pedersen, L.B.1
Geimer, S.2
Sloboda, R.D.3
Rosenbaum, J.L.4
-
13
-
-
13444250115
-
Chlamydomonas IFT172 is encoded by FLA11, interacts with CrEB1, and regulates IFT at the flagellar tip
-
Pedersen LB, Miller MS, Geimer S, Leitch JM, Rosenbaum JL, Cole DG (2005) Chlamydomonas IFT172 is encoded by FLA11, interacts with CrEB1, and regulates IFT at the flagellar tip. Curr Biol 15(3): 262-266.
-
(2005)
Curr Biol
, vol.15
, Issue.3
, pp. 262-266
-
-
Pedersen, L.B.1
Miller, M.S.2
Geimer, S.3
Leitch, J.M.4
Rosenbaum, J.L.5
Cole, D.G.6
-
14
-
-
0032517769
-
Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects
-
Piperno G, Siuda E, Henderson S, Segil M, Vaananen H, Sassaroli M (1998) Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects. J Cell Biol 143(6): 1591-1601.
-
(1998)
J Cell Biol
, vol.143
, Issue.6
, pp. 1591-1601
-
-
Piperno, G.1
Siuda, E.2
Henderson, S.3
Segil, M.4
Vaananen, H.5
Sassaroli, M.6
-
15
-
-
40949104999
-
Different Effects of Tetrahymena IFT172 Domains on Anterograde and Retrograde Intraflagellar Transport
-
Tsao CC, Gorovsky MA (2008a) Different Effects of Tetrahymena IFT172 Domains on Anterograde and Retrograde Intraflagellar Transport. Mol Biol Cell 19(4): 1450-1461.
-
(2008)
Mol Biol Cell
, vol.19
, Issue.4
, pp. 1450-1461
-
-
Tsao, C.C.1
Gorovsky, M.A.2
-
16
-
-
40949085972
-
Tetrahymena IFT122A is not essential for cilia assembly but plays a role in returning IFT proteins from the ciliary tip to the cell body
-
Tsao CC, Gorovsky MA (2008b) Tetrahymena IFT122A is not essential for cilia assembly but plays a role in returning IFT proteins from the ciliary tip to the cell body. J Cell Sci 121(Pt 4): 428-436.
-
(2008)
J Cell Sci
, vol.121
, Issue.Pt 4
, pp. 428-436
-
-
Tsao, C.C.1
Gorovsky, M.A.2
-
17
-
-
77953120200
-
Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
-
doi:10.1016/j.ajhg.2010.04.012
-
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW (2010) Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 86(6): 949-956. doi: 10. 1016/j. ajhg. 2010. 04. 012.
-
(2010)
Am J Hum Genet
, vol.86
, Issue.6
, pp. 949-956
-
-
Walczak-Sztulpa, J.1
Eggenschwiler, J.2
Osborn, D.3
Brown, D.A.4
Emma, F.5
Klingenberg, C.6
Hennekam, R.C.7
Torre, G.8
Garshasbi, M.9
Tzschach, A.10
Szczepanska, M.11
Krawczynski, M.12
Zachwieja, J.13
Zwolinska, D.14
Beales, P.L.15
Ropers, H.H.16
Latos-Bielenska, A.17
Kuss, A.W.18
-
18
-
-
65549169874
-
Intraflagellar transport (IFT) protein IFT25 is a phosphoprotein component of IFT complex B and physically interacts with IFT27 in Chlamydomonas
-
doi:10.1371/journal.pone.0005384
-
Wang Z, Fan ZC, Williamson SM, Qin H (2009) Intraflagellar transport (IFT) protein IFT25 is a phosphoprotein component of IFT complex B and physically interacts with IFT27 in Chlamydomonas. PLoS One 4(5): e5384. doi: 10. 1371/journal. pone. 0005384.
-
(2009)
PLoS One
, vol.4
, Issue.5
-
-
Wang, Z.1
Fan, Z.C.2
Williamson, S.M.3
Qin, H.4
-
19
-
-
0024322860
-
Cranioectodermal dysplasia (Sensenbrenner's syndrome)
-
Young ID (1989) Cranioectodermal dysplasia (Sensenbrenner's syndrome). J Med Genet 26(6): 393-396.
-
(1989)
J Med Genet
, vol.26
, Issue.6
, pp. 393-396
-
-
Young, I.D.1
|