Cilia/Ift protein and motor-related bone diseases and mouse models

Frontiers in Bioscience - Landmark

Volumn 20, Issue 3, 2015, Pages 515-555

  Yuan, Xue ^a   Yang, Shuying ^a  

^a UNIVERSITY AT BUFFALO   (United States)

Author keywords

Bone; Ciliopathies; ENU; Gene trap; Ift motors; Ift proteins; Knockout; Mouse models; Review

Indexed keywords

MOLECULAR MOTOR;

ANIMAL; BONE DISEASE; CHEMISTRY; DISEASE MODEL; EUKARYOTIC FLAGELLUM; HUMAN; METABOLISM; MOUSE; PATHOPHYSIOLOGY; PHYSIOLOGY; PROTEIN CONFORMATION;

ANIMALS; BONE DISEASES; CILIA; DISEASE MODELS, ANIMAL; HUMANS; MICE; MOLECULAR MOTOR PROTEINS; PROTEIN CONFORMATION;

EID: 84919819904     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/4323     Document Type: Review

References (235)

1. A. Teti: Bone development: overview of bone cells and signaling. Curr Osteoporos Rep, 9(4), 264-73 (2011) DOI: 10.1007/s11914-011-0078-8
2. G. Karsenty and E. F. Wagner: Reaching a genetic and molecular understanding of skeletal development. Dev Cell, 2(4), 389-406 (2002) DOI: 10.1016/S1534-5807(02)00157-0
3. C. Cooper, N. Harvey, K. Javaid, M. Hanson and E. Dennison: Growth and bone development. Nestle Nutr Workshop Ser Pediatr Program, 61, 53-68 (2008)
4. R. Cancedda, F. Descalzi Cancedda and P. Castagnola: Chondrocyte differentiation. Int Rev Cytol, 159, 265-358 (1995) DOI: 10.1016/S0074-7696(08)62109-9
5. C. Colnot: Cellular and molecular interactions regulating skeletogenesis. J Cell Biochem, 95(4), 688-97 (2005) DOI: 10.1002/jcb.20449
6. B. C. van der Eerden, M. Karperien and J. M. Wit: Systemic and local regulation of the growth plate. Endocr Rev, 24(6), 782-801 (2003) DOI: 10.1210/er.2002-0033
7. T. F. Day and Y. Yang: Wnt and hedgehog signaling pathways in bone development. J Bone Joint Surg Am, 90 Suppl 1, 19-24 (2008) DOI: 10.2106/JBJS.G.01174
8. S. Zanotti and E. Canalis: Notch regulation of bone development and remodeling and related skeletal disorders. Calcif Tissue Int, 90(2), 69-75 (2012) DOI: 10.1007/s00223-011-9541-x
9. V. Rosen: BMP2 signaling in bone development and repair. Cytokine Growth Factor Rev, 20(5-6), 475-80 (2009) DOI: 10.1016/j.cytogfr.2009.10.018
10. C. E. Combs, J. J. Nicholls, J. H. Duncan Bassett and G. R. Williams: Thyroid hormones and bone development. Minerva Endocrinol, 36(1), 71-85 (2011)
11. S. V. Smirnov and A. B. Vasil'eva: The role of thyroid hormones in skull bone development in the ribbed newt Pleurodeles waltl (Urodela: Salamandridae). Dokl Biol Sci, 379, 396-8 (2001) DOI: 10.1023/A:1011681003652
12. K. Barlow-Stewart: The Australasian genetics resource book : a source of current and accurate information for health professionals, individuals and families, teachers and students Centre for Genetics Education, (2007) (doi not found)
13. E. Zelzer and B. R. Olsen: The genetic basis for skeletal diseases. Nature, 423(6937), 343-8 (2003) DOI: 10.1038/nature01659
14. O. Makitie: Molecular defects causing skeletal dysplasias. Endocr Dev, 21, 78-84 (2011) DOI: 10.1159/000328131
15. J. L. Badano, N. Mitsuma, P. L. Beales and N. Katsanis: The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet, 7, 125-48 (2006) DOI: 10.1146/annurev.genom.7.080505.115610
16. J. T. Eggenschwiler and K. V. Anderson: Cilia and developmental signaling. Annu Rev Cell Dev Biol, 23, 345-73 (2007) DOI: 10.1146/annurev.cellbio.23.090506.123249
17. E. J. Michaud and B. K. Yoder: The primary cilium in cell signaling and cancer. Cancer Res, 66(13), 6463-7 (2006) DOI: 10.1158/0008-5472.CAN-06-0462
18. H. Ishikawa and W. F. Marshall: Ciliogenesis: building the cell's antenna. Nat Rev Mol Cell Biol, 12(4), 222-34 (2011) DOI: 10.1038/nrm3085
19. V. L. Ruiz-Perez, H. J. Blair, M. E. Rodriguez-Andres, M. J. Blanco, A. Wilson, Y. N. Liu, C. Miles, H. Peters and J. A. Goodship: Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development, 134(16), 2903-12 (2007) DOI: 10.1242/dev.007542
20. F. Lin, T. Hiesberger, K. Cordes, A. M. Sinclair, L. S. Goldstein, S. Somlo and P. Igarashi: Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proc Natl Acad Sci U S A, 100(9), 5286-91 (2003) DOI: 10.1073/pnas.0836980100
21. C. J. Haycraft, Q. Zhang, B. Song, W. S. Jackson, P. J. Detloff, R. Serra and B. K. Yoder: Intraflagellar transport is essential for endochondral bone formation. Development, 134(2), 307-16 (2007) DOI: 10.1242/dev.02732
22. E. Koyama, B. Young, M. Nagayama, Y. Shibukawa, M. Enomoto-Iwamoto, M. Iwamoto, Y. Maeda, B. Lanske, B. Song, R. Serra and M. Pacifici: Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis. Development, 134(11), 2159-69 (2007) DOI: 10.1242/dev.001586
23. G. J. Pazour and J. L. Rosenbaum: Intraflagellar transport and cilia-dependent diseases. Trends Cell Biol, 12(12), 551-5 (2002) DOI: 10.1016/S0962-8924(02)02410-8
24. B. K. Yoder: Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol, 18(5), 1381-8 (2007) DOI: 10.1681/ASN.2006111215
25. J. Pan, Q. Wang and W. J. Snell: Cilium-generated signaling and cilia-related disorders. Lab Invest, 85(4), 452-63 (2005) DOI: 10.1038/labinvest.3700253
26. K. G. Kozminski, K. A. Johnson, P. Forscher and J. L. Rosenbaum: A motility in the eukaryotic flagellum unrelated to flagellar beating. Proceedings of the National Academy of Sciences, 90(12), 5519-5523 (1993) DOI: 10.1073/pnas.90.12.5519
27. J. L. Rosenbaum and G. B. Witman: Intraflagellar transport. Nature Reviews Molecular Cell Biology, 3(11), 813-825 (2002) DOI: 10.1038/nrm952
28. M. Taschner, S. Bhogaraju and E. Lorentzen: Architecture and function of IFT complex proteins in ciliogenesis. Differentiation, 83(2), S12-S22 (2012) DOI: 10.1016/j.diff.2011.11.001
29. C. Huber and V. Cormier-Daire: Ciliary disorder of the skeleton. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Wiley Online Library, (2012) (doi not found)
30. R. S. Schwartz, F. Hildebrandt, T. Benzing and N. Katsanis: Ciliopathies. New England Journal of Medicine, 364(16), 1533-1543 (2011) DOI: 10.1056/NEJMra1010172
31. J. L. Badano, N. Mitsuma, P. L. Beales and N. Katsanis: The ciliopathies: an emerging class of human genetic disorders. Annu. Rev. Genomics Hum. Genet., 7, 125-148 (2006) DOI: 10.1146/annurev.genom.7.080505.115610
32. K. Baker and P. L. Beales: Making sense of cilia in disease: the human ciliopathies. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Wiley Online Library, (2009) (doi not found)
33. A. E. Merrill, B. Merriman, C. Farrington-Rock, N. Camacho, E. T. Sebald, V. A. Funari, M. J. Schibler, M. H. Firestein, Z. A. Cohn and M. A. Priore: Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. The American Journal of Human Genetics, 84(4), 542-549 (2009) DOI: 10.1016/j.ajhg.2009.03.015
34. P. Mill, P. J. Lockhart, E. Fitzpatrick, H. S. Mountford, E. A. Hall, M. A. Reijns, M. Keighren, M. Bahlo, C. J. Bromhead and P. Budd: Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. The American Journal of Human Genetics, 88(4), 508-515 (2011) DOI: 10.1016/j.ajhg.2011.03.015
35. N. Dagoneau, M. Goulet, D. Geneviève, Y. Sznajer, J. Martinovic, S. Smithson, C. Huber, G. Baujat, E. Flori and L. Tecco: DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III. The American Journal of Human Genetics, 84(5), 706-711 (2009) DOI: 10.1016/j.ajhg.2009.04.016
36. J. P. Scherft and W. T. Daems: Single cilia in chondrocytes. J Ultrastruct Res, 19(5), 546-55 (1967) DOI: 10.1016/S0022-5320(67)80080-7
37. P. Tummala, E. J. Arnsdorf and C. R. Jacobs: The role of primary cilia in mesenchymal stem cell differentiation: a pivotal switch in guiding lineage commitment. Cell Mol Bioeng, 3(3), 207-212 (2010) DOI: 10.1007/s12195-010-0127-x
38. A. M. Malone, C. T. Anderson, P. Tummala, R. Y. Kwon, T. R. Johnston, T. Stearns and C. R. Jacobs: Primary cilia mediate mechanosensing in bone cells by a calcium-independent mechanism. Proc Natl Acad Sci U S A, 104(33), 13325-30 (2007) DOI: 10.1073/pnas.0700636104
39. Z. Xiao, S. Zhang, J. Mahlios, G. Zhou, B. S. Magenheimer, D. Guo, S. L. Dallas, R. Maser, J. P. Calvet and L. Bonewald: Cilia-like structures and polycystin-1 in osteoblasts/osteocytes and associated abnormalities in skeletogenesis and Runx2 expression. Journal of Biological Chemistry, 281(41), 30884-30895 (2006) DOI: 10.1074/jbc.M604772200
40. R. Uzbekov, D. Maurel, P. Aveline, S. Pallu, C. Benhamou and G. Rochefort: Centrosome Fine Ultrastructure of the Osteocyte Mechanosensitive Primary Cilium. Microscopy and Microanalysis, 18(6), 1430 (2012) DOI: 10.1017/S1431927612013281
41. M. Federman and G. Nichols, Jr.: Bone cell cilia: vestigial or functional organelles? Calcif Tissue Res, 17(1), 81-5 (1974) DOI: 10.1007/BF02547216
42. S. Temiyasathit and C. R. Jacobs: Osteocyte primary cilium and its role in bone mechanotransduction. Ann N Y Acad Sci, 1192(1), 422-428 (2010) DOI: 10.1111/j.1749-6632.2009.05243.x
43. C. T. Anderson, A. B. Castillo, S. A. Brugmann, J. A. Helms, C. R. Jacobs and T. Stearns: Primary cilia: cellular sensors for the skeleton. Anat Rec (Hoboken), 291(9), 1074-8 (2008) DOI: 10.1002/ar.20754
44. J. Whitfield: The solitary (primary) cilium-a mechanosensory toggle switch in bone and cartilage cells. Cell Signal, 20(6), 1019-1024 (2008) DOI: 10.1016/j.cellsig.2007.12.001
45. D. A. Hoey, S. Tormey, S. Ramcharan, F. J. O'Brien and C. R. Jacobs: Primary Cilia-Mediated Mechanotransduction in Human Mesenchymal Stem Cells. Stem Cells, 30(11), 2561-2570 (2012) DOI: 10.1002/stem.1235
46. S. T. Christensen, L. B. Pedersen, L. Schneider and P. Satir: Sensory cilia and integration of signal transduction in human health and disease. Traffic, 8(2), 97-109 (2007) DOI: 10.1111/j.1600-0854.2006.00516.x
47. S. Y. Wong and J. F. Reiter: The primary cilium: at the crossroads of mammalian hedgehog signaling. Curr Top Dev Biol, 85, 225-260 (2008) DOI: 10.1016/S0070-2153(08)00809-0
48. D. Huangfu and K. V. Anderson: Cilia and Hedgehog responsiveness in the mouse. Proc Natl Acad Sci U S A, 102(32), 11325-11330 (2005) DOI: 10.1073/pnas.0505328102
49. M. A. Lancaster and J. G. Gleeson: The primary cilium as a cellular signaling center: lessons from disease. Curr Opin Genet Dev, 19(3), 220-229 (2009) DOI: 10.1016/j.gde.2009.04.008
50. S. J. Karp, E. Schipani, B. St-Jacques, J. Hunzelman, H. Kronenberg and A. P. McMahon: Indian hedgehog coordinates endochondral bone growth and morphogenesis via parathyroid hormone related-protein-dependent and-independent pathways. Development, 127(3), 543-548 (2000)
51. B. St-Jacques, M. Hammerschmidt and A. P. McMahon: Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev, 13(16), 2072-2086 (1999)
52. A. Pan, L. Chang, A. Nguyen and A. W. James: A review of hedgehog signaling in cranial bone development.Frontiers in physiology, 4 (2013)
53. S. Spinella-Jaegle, G. Rawadi, S. Kawai, S. Gallea, C. Faucheu, P. Mollat, B. Courtois, B. Bergaud, V. Ramez and A. M. Blanchet: Sonic hedgehog increases the commitment of pluripotent mesenchymal cells into the osteoblastic lineage and abolishes adipocytic differentiation. J Cell Sci, 114(11), 2085-2094 (2001)
54. G. Drossopoulou, K. Lewis, J. Sanz-Ezquerro, N. Nikbakht, A. McMahon, C. Hofmann and C. Tickle: A model for anteroposterior patterning of the vertebrate limb based on sequential long-and short-range Shh signalling and Bmp signalling. Development, 127(7), 1337-1348 (2000)
55. Y. Litingtung, R. D. Dahn, Y. Li, J. F. Fallon and C. Chiang: Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity. Nature, 418(6901), 979-983 (2002)
56. D. Huangfu, A. Liu, A. S. Rakeman, N. S. Murcia, L. Niswander and K. V. Anderson: Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature, 426(6962), 83-87 (2003)
57. S. C. Goetz, P. J. Ocbina and K. V. Anderson: The primary cilium as a Hedgehog signal transduction machine.Methods in cell biology, 94, 199-222 (2009)
58. E. Tasouri and K. L. Tucker: Primary cilia and organogenesis: is Hedgehog the only sculptor? Cell and tissue research, 345(1), 21-40 (2011)
59. R. Rohatgi, L. Milenkovic and M. P. Scott: Patched1 regulates hedgehog signaling at the primary cilium. Science, 317(5836), 372-376 (2007)
60. K. C. Corbit, P. Aanstad, V. Singla, A. R. Norman, D. Y. Stainier and J. F. Reiter: Vertebrate Smoothened functions at the primary cilium. Nature, 437(7061), 1018-1021 (2005)
61. D. J. Robbins, D. L. Fei and N. A. Riobo: The hedgehog signal transduction network. Sci Signal, 5(246), re6 (2012)
62. R. Baron and M. Kneissel: WNT signaling in bone homeostasis and disease: from human mutations to treatments.Nat Med, 19(2), 179-192 (2013)
63. J. B. Regard, Z. Zhong, B. O. Williams and Y. Yang: Wnt signaling in bone development and disease: making stronger bone with Wnts. Cold Spring Harb Perspect Biol, 4(12) (2012)
64. H. L. May-Simera and M. W. Kelley: Cilia, Wnt signaling, and the cytoskeleton. signal transduction, 11, 19 (2012)
65. R. Sugimura and L. Li: Noncanonical Wnt signaling in vertebrate development, stem cells, and diseases. Birth Defects Research Part C: Embryo Today: Reviews, 90(4), 243-256 (2010)
66. C. Wang, X. Yuan and S. Yang: IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways. Exp Cell Res, 319(5), 623-632 (2013)
67. P. J. R. Ocbina, M. Tuson and K. V. Anderson: Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. PLoS One, 4(8), e6839 (2009)
68. A. Awan, A. J. Bell and P. Satir: Kin5 knockdown in Tetrahymena thermophila using RNAi blocks cargo transport of Gef1. PloS one, 4(3), e4873 (2009)
69. S. C. Lunt, T. Haynes and B. D. Perkins: Zebrafish ift57, ift88, and ift172 intraflagellar transport mutants disrupt cilia but do not affect hedgehog signaling. Developmental Dynamics, 238(7), 1744-1759 (2009)
70. S. Rix, A. Calmont, P. J. Scambler and P. L. Beales: An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum Mol Genet, 20(7), 1306-1314 (2011)
71. V. Vanhooren and C. Libert: The mouse as a model organism in aging research: Usefulness, pitfalls and possibilities. Ageing research reviews, 12(1), 8-21 (2013)
72. F. Elefteriou and X. Yang: Genetic mouse models for bone studies - Strengths and limitations. Bone, 49(6), 1242-1254 (2011)
73. W. F. Marshall: Basal bodies platforms for building cilia. Curr Top Dev Biol, 85, 1-22 (2008)
74. D. L. Ringo: Flagellar motion and fine structure of the flagellar apparatus in Chlamydomonas. The Journal of cell biology, 33(3), 543-571 (1967)
75. P. Satir and S. T. Christensen: Overview of structure and function of mammalian cilia. Annu. Rev. Physiol., 69, 377-400 (2007)
76. K. G. Kozminski, K. A. Johnson, P. Forscher and J. L. Rosenbaum: A motility in the eukaryotic flagellum unrelated to flagellar beating. Proc Natl Acad Sci U S A, 90(12), 5519-23 (1993)
77. J. T. Orozco, K. P. Wedaman, D. Signor, H. Brown, L. Rose and J. M. Scholey: Movement of motor and cargo along cilia. Nature, 398(6729), 674-674 (1999)
78. D. G. Cole, D. R. Diener, A. L. Himelblau, P. L. Beech, J. C. Fuster and J. L. Rosenbaum: Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons. J Cell Biol, 141(4), 993-1008 (1998)
79. G. J. Pazour, C. G. Wilkerson and G. B. Witman: A dynein light chain is essential for the retrograde particle movement of intraflagellar transport (IFT). J Cell Biol, 141(4), 979-92 (1998)
80. N. Mizuno, M. Taschner, B. D. Engel and E. Lorentzen: Structural studies of ciliary components. J Mol Biol, 422(2), 163-80 (2012)
81. K. G. Kozminski: Intraflagellar transport - the "new motility" 20 years later. Mol Biol Cell, 23(5), 751-753 (2012)
82. D. G. Cole, D. R. Diener, A. L. Himelblau, P. L. Beech, J. C. Fuster and J. L. Rosenbaum: Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons. J Cell Biol, 141(4), 993-1008 (1998)
83. G. Piperno and K. Mead: Transport of a novel complex in the cytoplasmic matrix of Chlamydomonas flagella.Proceedings of the National Academy of Sciences, 94(9), 4457-4462 (1997)
84. D. G. Cole: Intraflagellar transport. In: The Chlamydomonas Sourcebook. Ed G. B. Witman. (2009)
85. G. Piperno, E. Siuda, S. Henderson, M. Segil, H. Vaananen and M. Sassaroli: Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects. J Cell Biol, 143(6), 1591-1601 (1998)
86. L. B. Pedersen and J. L. Rosenbaum: Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.Curr Top Dev Biol, 85, 23-61 (2008)
87. B. F. Lucker, R. H. Behal, H. Qin, L. C. Siron, W. D. Taggart, J. L. Rosenbaum and D. G. Cole: Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits. J Biol Chem, 280(30), 27688-96 (2005)
88. H. Qin, D. R. Diener, S. Geimer, D. G. Cole and J. L. Rosenbaum: Intraflagellar transport (IFT) cargo IFT transports flagellar precursors to the tip and turnover products to the cell body. J Cell Biol, 164(2), 255-266 (2004)
89. J. A. Follit, F. Xu, B. T. Keady and G. J. Pazour: Characterization of mouse IFT complex B. Cell Motil Cytoskeleton, 66(8), 457-468 (2009)
90. D. G. Cole and W. J. Snell: SnapShot: Intraflagellar transport. Cell, 137(4), 784 (2009)
91. N. S. Murcia, W. G. Richards, B. K. Yoder, M. L. Mucenski, J. R. Dunlap and R. P. Woychik: The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination. Development, 127(11), 2347-2355 (2000)
92. J. M. Friedland-Little, A. D. Hoffmann, P. J. Ocbina, M. A. Peterson, J. D. Bosman, Y. Chen, S. Y. Cheng, K. V. Anderson and I. P. Moskowitz: A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. Hum Mol Genet, 20(19), 3725-37 (2011)
93. B. Song, C. J. Haycraft, H.-s. Seo, B. K. Yoder and R. Serra: Development of the post-natal growth plate requires intraflagellar transport proteins. Developmental biology, 305(1), 202-216 (2007)
94. J. R. Marszalek, P. Ruiz-Lozano, E. Roberts, K. R. Chien and L. S. Goldstein: Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II. Proceedings of the National Academy of Sciences, 96(9), 5043-5048 (1999)
95. R. W. Stottmann, P. V. Tran, A. Turbe-Doan and D. R. Beier: Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain. Dev Biol, 335(1), 166-78 (2009)
96. P. V. Tran, C. J. Haycraft, T. Y. Besschetnova, A. Turbe-Doan, R. W. Stottmann, B. J. Herron, A. L. Chesebro, H. Qiu, P. J. Scherz, J. V. Shah, B. K. Yoder and D. R. Beier: THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Nat Genet, 40(4), 403-10 (2008)
97. S. Cortellino, C. Wang, B. Wang, M. R. Bassi, E. Caretti, D. Champeval, A. Calmont, M. Jarnik, J. Burch, K. S. Zaret, L. Larue and A. Bellacosa: 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), 225-37 (2009)
98. M. V. Nachury, A. V. Loktev, Q. Zhang, C. J. Westlake, J. Peränen, A. Merdes, D. C. Slusarski, R. H. Scheller, J. F. Bazan and V. C. Sheffield: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell, 129(6), 1201-1213 (2007)
99. A. V. Loktev, Q. Zhang, J. S. Beck, C. C. Searby, T. E. Scheetz, J. F. Bazan, D. C. Slusarski, V. C. Sheffield, P. K. Jackson and M. V. Nachury: A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell, 15(6), 854-65 (2008)
100. C.-H. Sung and M. R. Leroux: The roles of evolutionarily conserved functional modules in cilia-related trafficking.Nature cell biology, 15(12), 1387-1397 (2013)
101. V. L. Ruiz-Perez, H. J. Blair, M. E. Rodriguez-Andres, M. J. Blanco, A. Wilson, Y.-N. Liu, C. Miles, H. Peters and J. A. Goodship: Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.Development, 134(16), 2903-2912 (2007)
102. L. Romio, V. Wright, K. Price, P. J. Winyard, D. Donnai, M. E. Porteous, B. Franco, G. Giorgio, S. Malcolm, A. S. Woolf and S. A. Feather: OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. J Am Soc Nephrol, 14(3), 680-9 (2003)
103. K. W. Zimmermann: Beiträge zur Kenntniss einiger Drüsen und Epithelien. Archiv für mikroskopische Anatomie, 52(3), 552-706 (1898)
104. G. Novarino, N. Akizu and J. G. Gleeson: Modeling human disease in humans: the ciliopathies. Cell, 147(1), 70-79 (2011)
105. J. E. Lee and J. G. Gleeson: A systems-biology approach to understanding the ciliopathy disorders. Genome Med, 3, 59 (2011)
106. M. Jeune, C. Beraud and R. Carron: (Asphyxiating thoracic dystrophy with familial characteristics). Arch Fr Pediatr, 12(8), 886-91 (1955)
107. J. De Vries, J. Yntema, C. Van Die, N. Crama, E. Cornelissen and B. Hamel: Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. European journal of pediatrics, 169(1), 77-88 (2010)
108. E. E. Davis, Q. Zhang, Q. Liu, B. H. Diplas, L. M. Davey, J. Hartley, C. Stoetzel, K. Szymanska, G. Ramaswami, C. V. Logan, D. M. Muzny, A. C. Young, D. A. Wheeler, P. Cruz, M. Morgan, L. R. Lewis, P. Cherukuri, B. Maskeri, N. F. Hansen, J. C. Mullikin, R. W. Blakesley, G. G. Bouffard, N. C. S. Program, G. Gyapay, S. Rieger, B. Tonshoff, I. Kern, N. A. Soliman, T. J. Neuhaus, K. J. Swoboda, H. Kayserili, T. E. Gallagher, R. A. Lewis, C. Bergmann, E. A. Otto, S. Saunier, P. J. Scambler, P. L. Beales, J. G. Gleeson, E. R. Maher, T. Attie-Bitach, H. Dollfus, C. A. Johnson, E. D. Green, R. A. Gibbs, F. Hildebrandt, E. A. Pierce and N. Katsanis: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet, 43(3), 189-96 (2011)
109. C. Bredrup, S. Saunier, M. M. Oud, T. Fiskerstrand, A. Hoischen, D. Brackman, S. M. Leh, M. Midtbo, E. Filhol, C. Bole-Feysot, P. Nitschke, C. Gilissen, O. H. Haugen, J. S. Sanders, I. Stolte-Dijkstra, D. A. Mans, E. J. Steenbergen, B. C. Hamel, M. Matignon, R. Pfundt, C. Jeanpierre, H. Boman, E. Rodahl, J. A. Veltman, P. M. Knappskog, N. V. Knoers, R. Roepman and H. H. Arts: Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet, 89(5), 634-43 (2011)
110. G. Baujat, C. Huber, J. El Hokayem, R. Caumes, C. Do Ngoc Thanh, A. David, A. L. Delezoide, A. Dieux-Coeslier, B. Estournet, C. Francannet, H. Kayirangwa, F. Lacaille, M. Le Bourgeois, J. Martinovic, R. Salomon, S. Sigaudy, V. Malan, A. Munnich, M. Le Merrer, K. H. Le Quan Sang and V. Cormier-Daire: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet, 50(2), 91-8 (2013)
111. I. Perrault, S. Saunier, S. Hanein, E. Filhol, A. A. Bizet, F. Collins, M. A. Salih, S. Gerber, N. Delphin, K. Bigot, C. Orssaud, E. Silva, V. Baudouin, M. M. Oud, N. Shannon, M. Le Merrer, O. Roche, C. Pietrement, J. Goumid, C. Baumann, C. Bole-Feysot, P. Nitschke, M. Zahrate, P. Beales, H. H. Arts, A. Munnich, J. Kaplan, C. Antignac, V. Cormier-Daire and J. M. Rozet: Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet, 90(5), 864-70 (2012)
112. M. Schmidts, V. Frank, T. Eisenberger, S. al Turki, A. A. Bizet, D. Antony, S. Rix, C. Decker, N. Bachmann and M. Bald: Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease. Human mutation, 34(5), 714-724 (2013)
113. E. Forsythe and P. L. Beales: Bardet-Biedl syndrome. European Journal of Human Genetics, 21(1), 8-13 (2012)
114. H. Karmous-Benailly, J. Martinovic, M.-C. Gubler, Y. Sirot, L. Clech, C. Ozilou, J. Augé, N. Brahimi, H. Etchevers and E. Detrait: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet, 76(3), 493 (2005)
115. R. W. Ellis and S. Van Creveld: A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis Report of Three Cases. Arch Dis Child, 15(82), 65-84 (1940)
116. V. L. Ruiz-Perez and J. A. Goodship: Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Wiley Online Library, (2009)
117. M. C. D'Asdia, I. Torrente, F. Consoli, R. Ferese, M. Magliozzi, L. Bernardini, V. Guida, M. C. Digilio, B. Marino, B. Dallapiccola and A. De Luca: Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. European journal of medical genetics, 56(2), 80-7 (2013)
118. V. L. Ruiz-Perez, S. E. Ide, T. M. Strom, B. Lorenz, D. Wilson, K. Woods, L. King, C. Francomano, P. Freisinger, S. Spranger, B. Marino, B. Dallapiccola, M. Wright, T. Meitinger, M. H. Polymeropoulos and J. Goodship: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet, 24(3), 283-6 (2000)
119. V. L. Ruiz-Perez, W. Stuart Tompson, J. Helen Blair, C. Espinoza-Valdez, P. Lapunzina, E. O. Silva, B. Hamel, J. L. Gibbs, I. D. Young and M. J. Wright: Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. The American Journal of Human Genetics, 72(3), 728-732 (2003)
120. S. W. Tompson, V. L. Ruiz-Perez, H. J. Blair, S. Barton, V. Navarro, J. L. Robson, M. J. Wright and J. A. Goodship: Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet, 120(5), 663-670 (2007)
121. M. Valencia, P. Lapunzina, D. Lim, R. Zannolli, D. Bartholdi, B. Wollnik, O. Al-Ajlouni, S. S. Eid, H. Cox and S. Buoni: Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat, 30(12), 1667-1675 (2009)
122. B. Naiboglu, C. Oysu and T. Gokceer: Orofaciodigital syndrome. Ear, nose, & throat journal, 91(1), E8 (2012)
123. F. Gurrieri, B. Franco, H. Toriello and G. Neri: Oral-facial-digital syndromes: review and diagnostic guidelines.American Journal of Medical Genetics Part A, 143(24), 3314-3323 (2007)
124. M. Baraitser: The orofaciodigital (OFD) syndromes. Journal of medical genetics, 23(2), 116 (1986)
125. J. Burn, C. Dezateux, C. Hall and M. Baraitser: Orofaciodigital syndrome with mesomelic limb shortening. Journal of medical genetics, 21(3), 189-192 (1984)
126. M. I. Ferrante, S. A. Feather, A. Bulfone, V. Wright, M. Ghiani, A. Selicorni, L. Gammaro, F. Scolari, A. S. Woolf and O. Sylvie: Identification of the gene for oral-facial-digital type I syndrome. The American Journal of Human Genetics, 68(3), 569-576 (2001)
127. L. Romio, A. M. Fry, P. J. Winyard, S. Malcolm, A. S. Woolf and S. A. Feather: OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. Journal of the American Society of Nephrology, 15(10), 2556-2568 (2004)
128. C. Thiel, K. Kessler, A. Giessl, A. Dimmler, S. A. Shalev, S. von der Haar, M. Zenker, D. Zahnleiter, H. Stöss and E. Beinder: NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski. The American Journal of Human Genetics, 88(1), 106-114 (2011)
129. N. C. Ho, C. A. Francomano and M. van Allen: Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet, 90(4), 310-314 (2000)
130. D. P. Cavalcanti, C. Huber, K.-H. L. Q. Sang, G. Baujat, F. Collins, A.-L. Delezoide, N. Dagoneau, M. Le Merrer, J. Martinovic and M. F. S. Mello: Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet, 48(2), 88-92 (2011)
131. J. El Hokayem, C. Huber, A. Couvé, J. Aziza, G. Baujat, R. Bouvier, D. P. Cavalcanti, F. A. Collins, M.-P. Cordier and A.-L. Delezoide: NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. J Med Genet, 49(4), 227-233 (2012)
132. J. Walczak-Sztulpa, J. Eggenschwiler, D. Osborn, D. A. Brown, F. Emma, C. Klingenberg, R. C. Hennekam, G. Torre, M. Garshasbi and A. Tzschach: Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene. The American Journal of Human Genetics, 86(6), 949-956 (2010)
133. A. E. Konstantinidou, H. Fryssira, S. Sifakis, C. Karadimas, P. Kaminopetros, G. Agrogiannis, S. Velonis, P. G. Nikkels and E. Patsouris: Cranioectodermal dysplasia: a probable ciliopathy. American Journal of Medical Genetics Part A, 149(10), 2206-2211 (2009)
134. L. S. Levin, J. Perrin, L. Ose, J. P. Dorst, J. D. Miller and V. A. McKusick: A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr, 90(1), 55-61 (1977)
135. H. H. Arts, E. M. Bongers, D. A. Mans, S. E. van Beersum, M. M. Oud, E. Bolat, L. Spruijt, E. A. Cornelissen, J. H. Schuurs-Hoeijmakers and N. de Leeuw: C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet, 48(6), 390-395 (2011)
136. C. Gilissen, H. H. Arts, A. Hoischen, L. Spruijt, D. A. Mans, P. Arts, B. van Lier, M. Steehouwer, J. van Reeuwijk, S. G. Kant, R. Roepman, N. V. Knoers, J. A. Veltman and H. G. Brunner: Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet, 87(3), 418-23 (2010)
137. J. L. Hoffer, H. Fryssira, A. E. Konstantinidou, H. H. Ropers and A. Tzschach: Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). Clin Genet, 83(1), 92-5 (2013)
138. C.-P. Chen: Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwanese Journal of Obstetrics and Gynecology, 46(1), 9-14 (2007)
139. M. Delous, L. Baala, R. Salomon, C. Laclef, J. Vierkotten, K. Tory, C. Golzio, T. Lacoste, L. Besse and C. Ozilou: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet, 39(7), 875-881 (2007)
140. J. Roume, E. Genin, V. Cormier-Daire, H. Ma, B. Mehaye, T. Attie, F. Razavi-Encha, C. Fallet-Bianco, A. Buenerd and F. Clerget-Darpoux: A gene for Meckel syndrome maps to chromosome 11q13. The American Journal of Human Genetics, 63(4), 1095-1101 (1998)
141. A. C. Leightner, C. J. Hommerding, Y. Peng, J. L. Salisbury, V. G. Gainullin, P. G. Czarnecki, C. R. Sussman and P. C. Harris: The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Hum Mol Genet (2013)
142. M. Kyttälä, J. Tallila, R. Salonen, O. Kopra, N. Kohlschmidt, P. Paavola-Sakki, L. Peltonen and M. Kestilä: MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet, 38(2), 155-157 (2006)
143. U. M. Smith, M. Consugar, L. J. Tee, B. M. McKee, E. N. Maina, S. Whelan, N. V. Morgan, E. Goranson, P. Gissen, S. Lilliquist, I. A. Aligianis, C. J. Ward, S. Pasha, R. Punyashthiti, S. Malik Sharif, P. A. Batman, C. P. Bennett, C. G. Woods, C. McKeown, M. Bucourt, C. A. Miller, P. Cox, L. Algazali, R. C. Trembath, V. E. Torres, T. Attie-Bitach, D. A. Kelly, E. R. Maher, V. H. Gattone, 2nd, P. C. Harris and C. A. Johnson: The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet, 38(2), 191-6 (2006)
144. K. Szymanska, I. Berry, C. V. Logan, S. R. Cousins, H. Lindsay, H. Jafri, Y. Raashid, S. Malik-Sharif, B. Castle and M. Ahmed: Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Cilia, 1(1), 18 (2012)
145. S. N. Hardouin and A. Nagy: Mouse models for human disease. Clinical genetics, 57(4), 237-244 (2000)
146. M. H. Hofker and J. M. van Deursen: Transgenic mouse: methods and protocols. Springer, (2002)
147. K. R. Thomas and M. R. Capecchi: Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell, 51(3), 503-512 (1987)
148. R. Kühn and R. M. Torres: Cre/loxP recombination system and gene targeting. In: Transgenesis Techniques. Springer, (2002)
149. A. Nagy: Cre recombinase: the universal reagent for genome tailoring. genesis, 26(2), 99-109 (2000)
150. K. K. VanKoevering and B. O. Williams: Transgenic mouse strains for conditional gene deletion during skeletal development. IBMS BoneKEy, 5(5), 151-170 (2008)
151. A. Loonstra, M. Vooijs, H. B. Beverloo, B. Al Allak, E. van Drunen, R. Kanaar, A. Berns and J. Jonkers: Growth inhibition and DNA damage induced by Cre recombinase in mammalian cells. Proceedings of the National Academy of Sciences, 98(16), 9209-9214 (2001)
152. W. Russell, E. Kelly, P. Hunsicker, J. Bangham, S. Maddux and E. Phipps: Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proceedings of the National Academy of Sciences, 76(11), 5818-5819 (1979)
153. W. L. Stanford, J. B. Cohn and S. P. Cordes: Gene-trap mutagenesis: past, present and beyond. Nature reviews genetics, 2(10), 756-768 (2001)
154. S. De-Zolt, J. Altschmied, P. Ruiz, H. von Melchner and F. Schnütgen: Gene-trap vectors and mutagenesis. In:Gene Knockout Protocols. Springer, (2009)
155. C. Gross, E. De Baere, A. Lo, W. Chang and L. Messiaen: Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis. DNA and cell biology, 20(1), 41-52 (2001)
156. J. Qin, Y. Lin, R. X. Norman, H. W. Ko and J. T. Eggenschwiler: Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proc Natl Acad Sci U S A, 108(4), 1456-61 (2011)
157. S. Cortellino, D. Turner, V. Masciullo, F. Schepis, D. Albino, R. Daniel, A. M. Skalka, N. J. Meropol, C. Alberti and L. Larue: The base excision repair enzyme MED1 mediates DNA damage response to antitumor drugs and is associated with mismatch repair system integrity. Proceedings of the National Academy of Sciences, 100(25), 15071-15076 (2003)
158. J. Qin, Y. Lin, R. X. Norman, H. W. Ko and J. T. Eggenschwiler: Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proceedings of the National Academy of Sciences, 108(4), 1456-1461 (2011)
159. E. Efimenko, O. E. Blacque, G. Ou, C. J. Haycraft, B. K. Yoder, J. M. Scholey, M. R. Leroux and P. Swoboda: Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia. Mol Biol Cell, 17(11), 4801-11 (2006)
160. A. Ashe, N. C. Butterfield, L. Town, A. D. Courtney, A. N. Cooper, C. Ferguson, R. Barry, F. Olsson, K. F. Liem, Jr., R. G. Parton, B. J. Wainwright, K. V. Anderson, E. Whitelaw and C. Wicking: Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Hum Mol Genet, 21(8), 1808-23 (2012)
161. K. F. Liem, A. Ashe, M. He, P. Satir, J. Moran, D. Beier, C. Wicking and K. V. Anderson: The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. The Journal of cell biology, 197(6), 789-800 (2012)
162. J. A. Jonassen, J. SanAgustin, S. P. Baker and G. J. Pazour: Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation. Journal of the American Society of Nephrology, 23(4), 641-651 (2012)
163. G. Caruana, P. G. Farlie, A. H. Hart, S. Bagheri-Fam, M. J. Wallace, M. S. Dobbie, C. T. Gordon, K. A. Miller, B. Whittle, H. E. Abud, R. M. Arkell, T. J. Cole, V. R. Harley, I. M. Smyth and J. F. Bertram: Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. PLoS One, 8(3), e55429 (2013)
164. K. A. Miller, C. J. Ah-Cann, M. F. Welfare, T. Y. Tan, K. Pope, G. Caruana, M.-L. Freckmann, R. Savarirayan, J. F. Bertram and M. S. Dobbie: Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome. PLoS Genet, 9(8), e1003746 (2013)
165. J. A. Follit, R. A. Tuft, K. E. Fogarty and G. J. Pazour: The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly. Molecular biology of the cell, 17(9), 3781-3792 (2006)
166. J. A. Follit, J. T. San Agustin, F. Xu, J. A. Jonassen, R. Samtani, C. W. Lo and G. J. Pazour: The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex. PLoS genetics, 4(12), e1000315 (2008)
167. F. Finetti, S. R. Paccani, M. G. Riparbelli, E. Giacomello, G. Perinetti, G. J. Pazour, J. L. Rosenbaum and C. T. Baldari: Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse.Nature cell biology, 11(11), 1332-1339 (2009)
168. J. H. Moyer, M. J. Lee-Tischler, H.-Y. Kwon, J. J. Schrick, E. D. Avner, W. E. Sweeney, V. L. Godfrey, N. Cacheiro, J. Wilkinson and R. P. Woychik: Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science, 264(5163), 1329-1333 (1994)
169. J. M. Lehman, E. J. Michaud, T. R. Schoeb, Y. Aydin-Son, M. Miller and B. K. Yoder: The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men. Developmental Dynamics, 237(8), 1960-1971 (2008)
170. Q. Zhang, N. S. Murcia, L. R. Chittenden, W. G. Richards, E. J. Michaud, R. P. Woychik and B. K. Yoder: Loss of the Tg737 protein results in skeletal patterning defects. Developmental Dynamics, 227(1), 78-90 (2003)
171. S. McGlashan, C. Haycraft, C. Jensen, B. Yoder and C. Poole: Articular cartilage and growth plate defects are associated with chondrocyte cytoskeletal abnormalities in Tg737orpk mice lacking the primary cilia protein polaris.Matrix biology: journal of the International Society for Matrix Biology, 26(4), 234 (2007)
172. J. Irianto, G. Ramaswamy, R. Serra and M. M. Knight: Depletion of primary cilia reduces the compressive modulus of articular cartilage. J Biomech (2013)
173. A. Liu, B. Wang and L. A. Niswander: Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development, 132(13), 3103-3111 (2005)
174. C. J. Haycraft, Q. Zhang, B. Song, W. S. Jackson, P. J. Detloff, R. Serra and B. K. Yoder: Intraflagellar transport is essential for endochondral bone formation. Development, 134(2), 307-316 (2007)
175. C. F. Chang and R. Serra: Ift88 regulates Hedgehog signaling, Sfrp5 expression, and beta-catenin activity in post-natal growth plate. J Orthop Res, 31(3), 350-6 (2013)
176. C. F. Chang, G. Ramaswamy and R. Serra: Depletion of primary cilia in articular chondrocytes results in reduced Gli3 repressor to activator ratio, increased Hedgehog signaling, and symptoms of early osteoarthritis. Osteoarthritis and Cartilage, 20(2), 152-161 (2012)
177. L. V. Goodrich, L. Milenkovic, K. M. Higgins and M. P. Scott: Altered neural cell fates and medulloblastoma in mouse patched mutants. Science, 277(5329), 1109-1113 (1997)
178. P. J. Ocbina, M. Tuson and K. V. Anderson: Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. PLoS One, 4(8), e6839 (2009)
179. M. Gorivodsky, M. Mukhopadhyay, M. Wilsch-Braeuninger, M. Phillips, A. Teufel, C. Kim, N. Malik, W. Huttner and H. Westphal: Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain. Dev Biol, 325(1), 24-32 (2009)
180. P. W. Howard, T. L. Howard and R. A. Maurer: Generation of mice with a conditional allele for Ift172. Transgenic research, 19(1), 121-126 (2010)
181. S. A. Baker, K. Freeman, K. Luby-Phelps, G. J. Pazour and J. C. Besharse: IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia. Journal of Biological Chemistry, 278(36), 34211-34218 (2003)
182. B. L. Krock and B. D. Perkins: The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors. J Cell Sci, 121(11), 1907-1915 (2008)
183. J. A. Jonassen, J. San Agustin, J. A. Follit and G. J. Pazour: Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease. The Journal of cell biology, 183(3), 377-384 (2008)
184. B. T. Keady, Y. Z. Le and G. J. Pazour: IFT20 is required for opsin trafficking and photoreceptor outer segment development. Molecular biology of the cell, 22(7), 921-930 (2011)
185. B. T. Keady, R. Samtani, K. Tobita, M. Tsuchya, J. T. San Agustin, J. A. Follit, J. A. Jonassen, R. Subramanian, C. W. Lo and G. J. Pazour: IFT25 links the signal-dependent movement of hedgehog components to intraflagellar transport. Developmental cell, 22(5), 940-951 (2012)
186. S. Bhogaraju, M. Taschner, M. Morawetz, C. Basquin and E. Lorentzen: Crystal structure of the intraflagellar transport complex 25/27. EMBO J, 30(10), 1907-1918 (2011)
187. H. Qin, Z. Wang, D. Diener and J. Rosenbaum: Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control. Curr Biol, 17(3), 193-202 (2007)
188. Z. Wang, Z.-C. Fan, S. M. Williamson and H. Qin: 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 (2009)
189. J. C. Schafer, M. E. Winkelbauer, C. L. Williams, C. J. Haycraft, R. A. Desmond and B. K. Yoder: IFTA-2 is a conserved cilia protein involved in pathways regulating longevity and dauer formation in Caenorhabditis elegans. J Cell Sci, 119(Pt 19), 4088-100 (2006)
190. C. Adhiambo, T. Blisnick, G. Toutirais, E. Delannoy and P. Bastin: A novel function for the atypical small G protein Rab-like 5 in the assembly of the trypanosome flagellum. J Cell Sci, 122(6), 834-841 (2009)
191. Y. Hou, H. Qin, J. A. Follit, G. J. Pazour, J. L. Rosenbaum and G. B. Witman: Functional analysis of an individual IFT protein: IFT46 is required for transport of outer dynein arms into flagella. J Cell Biol, 176(5), 653-665 (2007)
192. J. Gouttenoire, U. Valcourt, C. Bougault, E. Aubert-Foucher, E. Arnaud, L. Giraud and F. Mallein-Gerin: Knockdown of the intraflagellar transport protein IFT46 stimulates selective gene expression in mouse chondrocytes and affects early development in zebrafish. Journal of Biological Chemistry, 282(42), 30960-30973 (2007)
193. N. F. Berbari, N. W. Kin, N. Sharma, E. J. Michaud, R. A. Kesterson and B. K. Yoder: Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation. Dev Biol, 360(1), 66-76 (2011)
194. Y. Niu, T. Murata, K. Watanabe, K. Kawakami, A. Yoshimura, J. Inoue, R. K. Puri and N. Kobayashi: MIP-T3 associates with IL-13Ralpha1 and suppresses STAT6 activation in response to IL-13 stimulation. FEBS Lett, 550(1-3), 139-43 (2003)
195. F. G. Gervais, R. Singaraja, S. Xanthoudakis, C.-A. Gutekunst, B. R. Leavitt, M. Metzler, A. S. Hackam, J. Tam, J. P. Vaillancourt and V. Houtzager: Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nature cell biology, 4(2), 95-105 (2002)
196. C. Houde, R. J. Dickinson, V. M. Houtzager, R. Cullum, R. Montpetit, M. Metzler, E. M. Simpson, S. Roy, M. R. Hayden and P. A. Hoodless: Hippi is essential for node cilia assembly and Sonic hedgehog signaling. Developmental biology, 300(2), 523-533 (2006)
197. N. Pathak, C. A. Austin and I. A. Drummond: Tubulin tyrosine ligase-like genes ttll3 and ttll6 maintain zebrafish cilia structure and motility. Journal of Biological Chemistry, 286(13), 11685-11695 (2011)
198. N. Pathak, T. Obara, S. Mangos, Y. Liu and I. A. Drummond: The zebrafish fleer gene encodes an essential regulator of cilia tubulin polyglutamylation. Molecular biology of the cell, 18(11), 4353-4364 (2007)
199. G. Ou, O. E. Blacque, J. J. Snow, M. R. Leroux and J. M. Scholey: Functional coordination of intraflagellar transport motors. Nature, 436(7050), 583-587 (2005)
200. S. Bhogaraju, L. Cajanek, C. Fort, T. Blisnick, K. Weber, M. Taschner, N. Mizuno, S. Lamla, P. Bastin and E. A. Nigg: Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81. Science, 341(6149), 1009-1012 (2013)
201. J. M. Scholey: Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol, 180(1), 23-29 (2008)
202. V. Rajagopalan, J. P. D'Amico and D. E. Wilkes: Cytoplasmic dynein-2: from molecules to human diseases.Frontiers in Biology, 8(1), 119-126 (2013)
203. K. K. Pfister, E. M. Fisher, I. R. Gibbons, T. S. Hays, E. L. Holzbaur, J. R. McIntosh, M. E. Porter, T. A. Schroer, K. T. Vaughan and G. B. Witman: Cytoplasmic dynein nomenclature. J Cell Biol, 171(3), 411-413 (2005)
204. P. J. R. Ocbina, J. T. Eggenschwiler, I. Moskowitz and K. V. Anderson: Complex interactions between genes controlling trafficking in primary cilia. Nat Genet, 43(6), 547-553 (2011)
205. P. J. R. Ocbina and K. V. Anderson: Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts. Developmental Dynamics, 237(8), 2030-2038 (2008)
206. K. F. Liem, M. He, P. J. R. Ocbina and K. V. Anderson: Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling. Proceedings of the National Academy of Sciences, 106(32), 13377-13382 (2009)
207. S. R. May, A. M. Ashique, M. Karlen, B. Wang, Y. Shen, K. Zarbalis, J. Reiter, J. Ericson and A. S. Peterson: Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli. Dev Biol, 287(2), 378 (2005)
208. P. M. Grissom, E. A. Vaisberg and J. R. McIntosh: Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2. Mol Biol Cell, 13(3), 817-829 (2002)
209. C. A. Perrone, D. Tritschler, P. Taulman, R. Bower, B. K. Yoder and M. E. Porter: A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in Chlamydomonas and mammalian cells. Mol Biol Cell, 14(5), 2041-2056 (2003)
210. A. A. Rana, J. P. M. Barbera, T. A. Rodriguez, D. Lynch, E. Hirst, J. C. Smith and R. S. Beddington: Targeted deletion of the novel cytoplasmic dynein mD2LIC disrupts the embryonic organiser, formation of the body axes and specification of ventral cell fates. Development, 131(20), 4999-5007 (2004)
211. K. J. Verhey, J. Dishinger and H. L. Kee: Kinesin motors and primary cilia. Biochem Soc Trans, 39(5), 1120 (2011)
212. J. M. Scholey: Kinesin-2: A Family of Heterotrimeric and Homodimeric Motors with Diverse Intracellular Transport Functions. Annu Rev Cell Dev Biol, 29(1) (2013)
213. H. Miki, Y. Okada and N. Hirokawa: Analysis of the kinesin superfamily: insights into structure and function.Trends Cell Biol, 15(9), 467-76 (2005)
214. P. M. Jenkins, T. W. Hurd, L. Zhang, D. P. McEwen, R. L. Brown, B. Margolis, K. J. Verhey and J. R. Martens: Ciliary targeting of olfactory CNG channels requires the CNGB1b subunit and the kinesin-2 motor protein, KIF17.Current biology, 16(12), 1211-1216 (2006)
215. H. O.-L. Cheung, X. Zhang, A. Ribeiro, R. Mo, S. Makino, V. Puviindran, K. K. Law, J. Briscoe and C.-c. Hui: The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling. Sci Signal, 2(76), ra29 (2009)
216. S. Endoh-Yamagami, M. Evangelista, D. Wilson, X. Wen, J.-W. Theunissen, K. Phamluong, M. Davis, S. J. Scales, M. J. Solloway and F. J. de Sauvage: The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Current biology, 19(15), 1320-1326 (2009)
217. J. R. Marszalek, X. Liu, E. A. Roberts, D. Chui, J. D. Marth, D. S. Williams and L. S. Goldstein: Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell, 102(2), 175-187 (2000)
218. E. Kolpakova-Hart, M. Jinnin, B. Hou, N. Fukai and B. R. Olsen: Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog-and Gli3-dependent mechanisms. Dev Biol, 309(2), 273-284 (2007)
219. S. A. Brugmann, N. C. Allen, A. W. James, Z. Mekonnen, E. Madan and J. A. Helms: A primary ciliadependent etiology for midline facial disorders. Hum Mol Genet, 19(8), 1577-1592 (2010)
220. E. Koyama, B. Young, M. Nagayama, Y. Shibukawa, M. Enomoto-Iwamoto, M. Iwamoto, Y. Maeda, B. Lanske, B. Song and R. Serra: Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis. Development, 134(11), 2159-2169 (2007)
221. N. Qiu, Z. Xiao, L. Cao, M. M. Buechel, V. David, E. Roan and L. D. Quarles: Disruption of Kif3a in osteoblasts results in defective bone formation and osteopenia. J Cell Sci, 125(8), 1945-1957 (2012)
222. S. Temiyasathit and C. R. Jacobs: Osteocyte primary cilium and its role in bone mechanotransduction. Annals of the New York Academy of Sciences, 1192(1), 422-428 (2010)
223. T. Kinumatsu, Y. Shibukawa, T. Yasuda, M. Nagayama, S. Yamada, R. Serra, M. Pacifici and E. Koyama: TMJ development and growth require primary cilia function. Journal of dental research, 90(8), 988-994 (2011)
224. Y. Wu, X.-Q. Dai, Q. Li, C. X. Chen, W. Mai, Z. Hussain, W. Long, N. Montalbetti, G. Li and R. Glynne: Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. Hum Mol Genet, 15(22), 3280-3292 (2006)
225. S. Nonaka, Y. Tanaka, Y. Okada, S. Takeda, A. Harada, Y. Kanai, M. Kido and N. Hirokawa: Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell, 95(6), 829-837 (1998)
226. L. Lum and P. A. Beachy: The Hedgehog response network: sensors, switches, and routers. Science, 304(5678), 1755-1759 (2004)
227. H. Miki, Y. Okada and N. Hirokawa: Analysis of the kinesin superfamily: insights into structure and function.Trends Cell Biol, 15(9), 467-476 (2005)
228. S. Y. Tay, P. W. Ingham and S. Roy: A homologue of the Drosophila kinesin-like protein Costal2 regulates Hedgehog signal transduction in the vertebrate embryo. Development, 132(4), 625-634 (2005)
229. M. T. Wong-Riley and J. C. Besharse: The kinesin superfamily protein KIF17: one protein with many functions (2012)
230. P. W. Howard, S. F. Jue and R. A. Maurer: Interaction of mouse TTC30/DYF-1 with multiple intraflagellar transport complex B proteins and KIF17. Exp Cell Res (2013)
231. X. Yin, Y. Takei, M. A. Kido and N. Hirokawa: Molecular motor KIF17 is fundamental for memory and learning via differential support of synaptic NR2A/2B levels. Neuron, 70(2), 310-325 (2011)
232. J. Kim, J. E. Lee, S. Heynen-Genel, E. Suyama, K. Ono, K. Lee, T. Ideker, P. Aza-Blanc and J. G. Gleeson: Functional genomic screen for modulators of ciliogenesis and cilium length. Nature, 464(7291), 1048-1051 (2010)
233. P. L. Beales, E. Bland, J. L. Tobin, C. Bacchelli, B. Tuysuz, J. Hill, S. Rix, C. G. Pearson, M. Kai and J. Hartley: IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.Nat Genet, 39(6), 727-729 (2007)
234. L. Hao and J. M. Scholey: Intraflagellar transport at a glance. Journal of cell science, 122(7), 889-892 (2009)
235. H. H. Arts and N. V. Knoers: Current insights into renal ciliopathies: what can genetics teach us? Pediatric Nephrology, 28(6), 863-874 (2013)