메뉴 건너뛰기




Volumn 52, Issue 1, 2015, Pages 1-9

Recent advances in primary ciliary dyskinesia genetics

Author keywords

[No Author keywords available]

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; AXONEMAL DYNEIN;

EID: 84947899465     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102755     Document Type: Review
Times cited : (88)

References (101)
  • 1
    • 79958717871 scopus 로고    scopus 로고
    • Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme
    • Wirschell M, Yamamoto R, Alford L, Gokhale A, Gaillard A, Sale W. Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme. Arch Biochem Biophys 2011;510:93-100.
    • (2011) Arch Biochem Biophys , vol.510 , pp. 93-100
    • Wirschell, M.1    Yamamoto, R.2    Alford, L.3    Gokhale, A.4    Gaillard, A.5    Sale, W.6
  • 2
    • 36248951507 scopus 로고    scopus 로고
    • Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor
    • Rompolas P, Pedersen L, Patel-King R, King S. Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor. J Cell Sci 2007;120(Pt 20):3653-65.
    • (2007) J Cell Sci , vol.120 , Issue.20 PART , pp. 3653-3665
    • Rompolas, P.1    Pedersen, L.2    Patel-King, R.3    King, S.4
  • 3
    • 57349105123 scopus 로고    scopus 로고
    • A protein methylation pathway in Chlamydomonas flagella is active during flagellar resorption
    • Schneider M, Ulland M, Sloboda R. A protein methylation pathway in Chlamydomonas flagella is active during flagellar resorption. Mol Biol Cell 2008;19:4319-27.
    • (2008) Mol Biol Cell , vol.19 , pp. 4319-4327
    • Schneider, M.1    Ulland, M.2    Sloboda, R.3
  • 4
    • 84893755948 scopus 로고    scopus 로고
    • New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas
    • Lin H, Nauman N, Albee A, Hsu S, Dutcher S. New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas. Cilia 2013;2:14.
    • (2013) Cilia , vol.2 , pp. 14
    • Lin, H.1    Nauman, N.2    Albee, A.3    Hsu, S.4    Dutcher, S.5
  • 6
    • 84877691529 scopus 로고    scopus 로고
    • The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone
    • Bylander A, Lind K, Goksör M, Billig H, Larsson DG. The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone. Reprod Biol Endocrinol 2013;11:33.
    • (2013) Reprod Biol Endocrinol , vol.11 , pp. 33
    • Bylander, A.1    Lind, K.2    Goksör, M.3    Billig, H.4    Larsson, D.G.5
  • 10
    • 84875896033 scopus 로고    scopus 로고
    • Analysis of gene function and visualization of cilia-generated fluid flow in Kupffer's vesicle
    • Wang G, Yost HJ, Amack JD. Analysis of gene function and visualization of cilia-generated fluid flow in Kupffer's vesicle. J Vis Exp 2013;10:e50038.
    • (2013) J Vis Exp , vol.10
    • Wang, G.1    Yost, H.J.2    Amack, J.D.3
  • 11
    • 84865077999 scopus 로고    scopus 로고
    • Kinocilia mediate mechanosensitivity in developing zebrafish hair cells
    • Kindt KS, Finch G, Nicolson T. Kinocilia mediate mechanosensitivity in developing zebrafish hair cells. Dev Cell 2012;23:329-41.
    • (2012) Dev Cell , vol.23 , pp. 329-341
    • Kindt, K.S.1    Finch, G.2    Nicolson, T.3
  • 12
    • 84930211909 scopus 로고    scopus 로고
    • ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
    • Published Online First: 1 March 2014
    • Bergmann C. ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol 2014. Published Online First: 1 March 2014. doi 10.1007/s00467-013-2706-2
    • (2014) Pediatr Nephrol
    • Bergmann, C.1
  • 13
    • 84874755110 scopus 로고    scopus 로고
    • Mouse models of polycystic kidney disease induced by defects of ciliary proteins
    • Ko JY, Park JH. Mouse models of polycystic kidney disease induced by defects of ciliary proteins. BMB Rep 2013;46:73-9.
    • (2013) BMB Rep , vol.46 , pp. 73-79
    • Ko, J.Y.1    Park, J.H.2
  • 14
    • 79959491824 scopus 로고    scopus 로고
    • The role of cilia in the regulation of bile flow
    • Larusso NF, Masyuk TV. The role of cilia in the regulation of bile flow. Dig Dis 2011;29:6-12.
    • (2011) Dig Dis , vol.29 , pp. 6-12
    • Larusso, N.F.1    Masyuk, T.V.2
  • 16
    • 84862848736 scopus 로고    scopus 로고
    • The primary cilium as a dual sensor of mechanochemical signals in chondrocytes
    • Muhammad H, Rais Y, Miosge N, Ornan EM. The primary cilium as a dual sensor of mechanochemical signals in chondrocytes. Cell Mol Life Sci 2012; 69:2101-7.
    • (2012) Cell Mol Life Sci , vol.69 , pp. 2101-2107
    • Muhammad, H.1    Rais, Y.2    Miosge, N.3    Ornan, E.M.4
  • 17
  • 20
    • 84860721580 scopus 로고    scopus 로고
    • Insights into dynein motor domain function from a 3.3-Å crystal structure
    • Schmidt H, Gleave E, Carter A. Insights into dynein motor domain function from a 3.3-Å crystal structure. Nat Struct Mol Biol 2012;19:492-7.
    • (2012) Nat Struct Mol Biol , vol.19 , pp. 492-497
    • Schmidt, H.1    Gleave, E.2    Carter, A.3
  • 21
    • 74049111826 scopus 로고    scopus 로고
    • The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella
    • Heuser T, Raytchev M, Krell J, Porter M, Nicastro D. The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella. J Cell Biol 2009;187:921-33.
    • (2009) J Cell Biol , vol.187 , pp. 921-933
    • Heuser, T.1    Raytchev, M.2    Krell, J.3    Porter, M.4    Nicastro, D.5
  • 22
    • 79960288305 scopus 로고    scopus 로고
    • The CSC is required for complete radial spoke assembly and wild-type ciliary motility
    • Dymek E, Heuser T, Nicastro D, Smith E. The CSC is required for complete radial spoke assembly and wild-type ciliary motility. Mol Biol Cell 2011;22:2520-31.
    • (2011) Mol Biol Cell , vol.22 , pp. 2520-2531
    • Dymek, E.1    Heuser, T.2    Nicastro, D.3    Smith, E.4
  • 23
    • 84865208094 scopus 로고    scopus 로고
    • The CSC connects three major axonemal complexes involved in dynein regulation
    • Heuser T, Dymek E, Lin J, Smith E, Nicastro D. The CSC connects three major axonemal complexes involved in dynein regulation. Mol Biol Cell 2012;23:3143-55.
    • (2012) Mol Biol Cell , vol.23 , pp. 3143-3155
    • Heuser, T.1    Dymek, E.2    Lin, J.3    Smith, E.4    Nicastro, D.5
  • 28
    • 0001290709 scopus 로고
    • über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum
    • Sievert A. über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum. Berliner klinische Wochenschrift 1904;41:139-41.
    • (1904) Berliner klinische Wochenschrift , vol.41 , pp. 139-141
    • Sievert, A.1
  • 29
    • 34347201840 scopus 로고
    • Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus
    • Kartagener M. Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus. Beiträge zur Klinik der Tuberkulose 1933;83:489-501.
    • (1933) Beiträge zur Klinik der Tuberkulose , vol.83 , pp. 489-501
    • Kartagener, M.1
  • 30
    • 0017162819 scopus 로고
    • A human syndrome caused by immotile cilia.
    • Afzelius B. A human syndrome caused by immotile cilia. Science 1976;193:317-19.
    • (1976) Science , vol.193 , pp. 317-319
    • Afzelius, B.1
  • 37
    • 33645464522 scopus 로고    scopus 로고
    • Ciliary function and the role of cilia in clearance
    • Stannard W, O'Callaghan C. Ciliary function and the role of cilia in clearance. J Aerosol Med 2006;19:110-15.
    • (2006) J Aerosol Med , vol.19 , pp. 110-115
    • Stannard, W.1    O'Callaghan, C.2
  • 49
    • 33947525850 scopus 로고    scopus 로고
    • Genetic defects in ciliary structure and function
    • Zariwala M, Knowles M, Omran H. Genetic defects in ciliary structure and function. Annu Rev Physiol 2007;69:423-50.
    • (2007) Annu Rev Physiol , vol.69 , pp. 423-450
    • Zariwala, M.1    Knowles, M.2    Omran, H.3
  • 50
    • 77954679754 scopus 로고    scopus 로고
    • Immunofluorescence staining of ciliated respiratory epithelial cells
    • Omran H, Loges NT. Immunofluorescence staining of ciliated respiratory epithelial cells. Methods Cell Biol 2009;91:123-33.
    • (2009) Methods Cell Biol , vol.91 , pp. 123-133
    • Omran, H.1    Loges, N.T.2
  • 93
    • 0042235314 scopus 로고    scopus 로고
    • Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia
    • Chilvers MA, Rutman A, O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol 2003;112:518-24.
    • (2003) J Allergy Clin Immunol , vol.112 , pp. 518-524
    • Chilvers, M.A.1    Rutman, A.2    O'Callaghan, C.3
  • 98
    • 77953259866 scopus 로고    scopus 로고
    • Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis
    • Movassagh T, Bui K, Sakakibara H, Oiwa K, Ishikawa T. Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis. Nat Struct Mol Biol 2010;17:761-8.
    • (2010) Nat Struct Mol Biol , vol.17 , pp. 761-768
    • Movassagh, T.1    Bui, K.2    Sakakibara, H.3    Oiwa, K.4    Ishikawa, T.5
  • 100
    • 84855367790 scopus 로고    scopus 로고
    • Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella
    • Barber C, Heuser T, Carbajal-González B, Botchkarev VJ, Nicastro D. Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella. Mol Biol Cell 2012;23:111-20.
    • (2012) Mol Biol Cell , vol.23 , pp. 111-120
    • Barber, C.1    Heuser, T.2    Carbajal-González, B.3    Botchkarev, V.J.4    Nicastro, D.5
  • 101
    • 84865311801 scopus 로고    scopus 로고
    • Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure
    • O'Toole E, Giddings TJ, Porter M, Ostrowski L. Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure. Cytoskeleton (Hoboken) 2012;69:577-90.
    • (2012) Cytoskeleton (Hoboken) , vol.69 , pp. 577-590
    • O'Toole, E.1    Giddings, T.J.2    Porter, M.3    Ostrowski, L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.