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Volumn 46, Issue 6, 2014, Pages 646-651

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

(23)  Wallmeier, Julia a   Al Mutairi, Dalal A b   Chen, Chun Ting c   Loges, Niki Tomas a   Pennekamp, Petra a   Menchen, Tabea a   Ma, Lina c   Shamseldin, Hanan E d   Olbrich, Heike a   Dougherty, Gerard W a   Werner, Claudius a   Alsabah, Basel H e   Köhler, Gabriele a   Jaspers, Martine f   Boon, Mieke f   Griese, Matthias g   Schmitt Grohé, Sabina h   Zimmermann, Theodor i   Koerner Rettberg, Cordula j   Horak, Elisabeth k   more..


Author keywords

[No Author keywords available]

Indexed keywords

MOLECULAR MOTOR;

EID: 84901651947     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2961     Document Type: Article
Times cited : (218)

References (25)
  • 2
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1092 human genomes
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium. An integrated map of genetic variation from 1092 human genomes. Nature 491, 56-65 (2012).
    • (2012) Nature , vol.491 , pp. 56-65
  • 3
    • 0036479029 scopus 로고    scopus 로고
    • Mutations DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
    • Olbrich, H. et al. Mutations DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat. Genet. 30, 143-144 (2002).
    • (2002) Nat. Genet. , vol.30 , pp. 143-144
    • Olbrich, H.1
  • 4
    • 78651260210 scopus 로고    scopus 로고
    • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
    • Merveille, A.C. et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat. Genet. 43, 72-78 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 72-78
    • Merveille, A.C.1
  • 5
    • 0032428685 scopus 로고    scopus 로고
    • Randomization of left-right body asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3b motor protein
    • Nonaka, S. et al. Randomization of left-right body asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3b motor protein. Cell 95, 829-837 (1998).
    • (1998) Cell , vol.95 , pp. 829-837
    • Nonaka, S.1
  • 6
    • 0014291368 scopus 로고
    • Reconstructions of centriole formation and ciliogenesis in mammalian lungs
    • Sorokin, S.P. Reconstructions of centriole formation and ciliogenesis in mammalian lungs. J. Cell Sci. 3, 207-230 (1968).
    • (1968) J. Cell Sci. , vol.3 , pp. 207-230
    • Sorokin, S.P.1
  • 7
    • 84871986826 scopus 로고    scopus 로고
    • Cep164 mediated vesicular docking to the mother centriole during early steps of ciliogenesis
    • Schmidt, K.N. et al. Cep164 mediated vesicular docking to the mother centriole during early steps of ciliogenesis. J. Cell Biol. 199, 1083-1101 (2012).
    • (2012) J. Cell Biol. , vol.199 , pp. 1083-1101
    • Schmidt, K.N.1
  • 8
    • 84856460296 scopus 로고    scopus 로고
    • Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation
    • Stubbs, J.L., Vladar, E.K., Axelrod, J.D. & Kintner, C. Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation. Nat. Cell Biol. 14, 140-147 (2012).
    • (2012) Nat. Cell Biol. , vol.14 , pp. 140-147
    • Stubbs, J.L.1    Vladar, E.K.2    Axelrod, J.D.3    Kintner, C.4
  • 9
    • 80052399265 scopus 로고    scopus 로고
    • MicroRNA-449 in cell fate determination
    • Lizé, M., Klimke, A. & Dobbelstein, M. MicroRNA-449 in cell fate determination. Cell Cycle 10, 2874-2882 (2011).
    • (2011) Cell Cycle , vol.10 , pp. 2874-2882
    • Lizé, M.1    Klimke, A.2    Dobbelstein, M.3
  • 10
    • 79957895825 scopus 로고    scopus 로고
    • Control of vertebrate multiciliogenesis by miR-449 through direct repression of the Delta/Notch pathway
    • Marcet, B. et al. Control of vertebrate multiciliogenesis by miR-449 through direct repression of the Delta/Notch pathway. Nat. Cell Biol. 13, 693-699 (2011).
    • (2011) Nat. Cell Biol. , vol.13 , pp. 693-699
    • Marcet, B.1
  • 11
    • 68549121214 scopus 로고    scopus 로고
    • Notch signaling promotes airway mucous metaplasia and inhibits alveolar development
    • Guseh, J.S. et al. Notch signaling promotes airway mucous metaplasia and inhibits alveolar development. Development 136, 1751-1759 (2009).
    • (2009) Development , vol.136 , pp. 1751-1759
    • Guseh, J.S.1
  • 12
    • 69549088763 scopus 로고    scopus 로고
    • Notch signaling controls the balance of ciliated and secretory cell fates in developing airways
    • Tsao, P.N. et al. Notch signaling controls the balance of ciliated and secretory cell fates in developing airways. Development 136, 2297-2307 (2009).
    • (2009) Development , vol.136 , pp. 2297-2307
    • Tsao, P.N.1
  • 13
    • 84864084441 scopus 로고    scopus 로고
    • Wnt/β-catenin pathway antagonist Chibby binds Cenexin at the distal end of mother centrioles and functions in primary cilia formation
    • Steere, N. et al. Wnt/β-catenin pathway antagonist Chibby binds Cenexin at the distal end of mother centrioles and functions in primary cilia formation. PLoS ONE 7, e41077 (2012).
    • (2012) PLoS ONE , vol.7
    • Steere, N.1
  • 14
    • 56749152216 scopus 로고    scopus 로고
    • The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos
    • Stubbs, J.L., Oishi, I., Izpisua Belmonte, J.C. & Kintner, C. The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos. Nat. Genet. 40, 1454-1460 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 1454-1460
    • Stubbs, J.L.1    Oishi, I.2    Izpisua Belmonte, J.C.3    Kintner, C.4
  • 15
    • 84885390501 scopus 로고    scopus 로고
    • Deuterosome-mediated centriole biogenesis
    • Klos Dehring, D.A. et al. Deuterosome-mediated centriole biogenesis. Dev. Cell 27, 103-112 (2013).
    • (2013) Dev. Cell , vol.27 , pp. 103-112
    • Klos Dehring, D.A.1
  • 16
    • 84893353424 scopus 로고    scopus 로고
    • The Cep63 paralogue Deup1 enables massive de novo centriole biogenesis for vertebrate multiciliogenesis
    • Zhao, H. et al. The Cep63 paralogue Deup1 enables massive de novo centriole biogenesis for vertebrate multiciliogenesis. Nat. Cell Biol. 15, 1434-1444 (2013).
    • (2013) Nat. Cell Biol. , vol.15 , pp. 1434-1444
    • Zhao, H.1
  • 17
    • 84884930913 scopus 로고    scopus 로고
    • Myb promotes centriole amplification and later steps of the multiciliogenesis program
    • Tan, F.E. et al. Myb promotes centriole amplification and later steps of the multiciliogenesis program. Development 140, 4277-4286 (2013).
    • (2013) Development , vol.140 , pp. 4277-4286
    • Tan, F.E.1
  • 18
    • 0026902393 scopus 로고
    • Aplasia of respiratory tract cilia
    • DeBoeck, K. et al. Aplasia of respiratory tract cilia. Pediatr. Pulmonol. 13, 259-265 (1992).
    • (1992) Pediatr. Pulmonol. , vol.13 , pp. 259-265
    • Deboeck, K.1
  • 19
    • 84857993003 scopus 로고    scopus 로고
    • Understanding ciliated epithelia: The power of Xenopus
    • Werner, M.E. & Mitchell, B.J. Understanding ciliated epithelia: the power of Xenopus. Genesis 50, 176-185 (2012).
    • (2012) Genesis , vol.50 , pp. 176-185
    • Werner, M.E.1    Mitchell, B.J.2
  • 20
    • 84883446171 scopus 로고    scopus 로고
    • DYX1C1 is required for axonemal dynein assembly and ciliary motility
    • Tarkar, A. et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat. Genet. 45, 995-1003 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 995-1003
    • Tarkar, A.1
  • 21
    • 33646120587 scopus 로고    scopus 로고
    • Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia
    • Olbrich, H. et al. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia. Pediatr. Res. 59, 418-422 (2006).
    • (2006) Pediatr. Res. , vol.59 , pp. 418-422
    • Olbrich, H.1
  • 22
    • 57349137660 scopus 로고    scopus 로고
    • Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
    • Omran, H. et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 456, 611-616 (2008).
    • (2008) Nature , vol.456 , pp. 611-616
    • Omran, H.1
  • 23
    • 0028306459 scopus 로고
    • Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate
    • Turner, D.L. & Weintraub, H. Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate. Genes Dev. 8, 1434-1447 (1994).
    • (1994) Genes Dev. , vol.8 , pp. 1434-1447
    • Turner, D.L.1    Weintraub, H.2
  • 25
    • 84880947512 scopus 로고    scopus 로고
    • Bbof1 is required to maintain cilia orientation
    • Chien, Y.H. et al. Bbof1 is required to maintain cilia orientation. Development 140, 3468-3477 (2013).
    • (2013) Development , vol.140 , pp. 3468-3477
    • Chien, Y.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.