메뉴 건너뛰기




Volumn 18, Issue , 2016, Pages 18-24

Genetics and biology of primary ciliary dyskinesia

Author keywords

Cilia; Ciliogenesis; Genetic sequencing; Genetic testing; Primary ciliary dyskinesia; Rare lung disease

Indexed keywords

BIOLOGICAL FUNCTIONS; CILIARY DYSKINESIA; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE MODEL; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MOLECULAR PATHOLOGY; NONHUMAN; PATIENT ASSESSMENT; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; REVIEW; VALIDATION STUDY; ANIMAL; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; KARTAGENER SYNDROME; MUTATION; PHENOTYPE; PROCEDURES;

EID: 84951856817     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2015.09.001     Document Type: Review
Times cited : (155)

References (85)
  • 1
    • 0001290709 scopus 로고
    • Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum
    • Zivert A.K. Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum. Berliner klinische Wochenschrift 1904, 41:139-141.
    • (1904) Berliner klinische Wochenschrift , vol.41 , pp. 139-141
    • Zivert, A.K.1
  • 2
    • 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(4). 849-501.
    • (1933) Beiträge zur Klinik der Tuberkulose , vol.83 , Issue.4 , pp. 501-849
    • Kartagener, M.1
  • 3
    • 34347185078 scopus 로고
    • Situs viscerum inversus und Polyposis nasi in einem Falle familiaerer Bronchiektasien
    • Kartagener M., Horlacher A. Situs viscerum inversus und Polyposis nasi in einem Falle familiaerer Bronchiektasien. Beiträge zur Klinik der Tuberkulose 1936, 87:331-333.
    • (1936) Beiträge zur Klinik der Tuberkulose , vol.87 , pp. 331-333
    • Kartagener, M.1    Horlacher, A.2
  • 4
    • 0017162819 scopus 로고
    • A human syndrome caused by immotile cilia
    • Afzelius B.A. A human syndrome caused by immotile cilia. Science 1976, 193(4250):317-319.
    • (1976) Science , vol.193 , Issue.4250 , pp. 317-319
    • Afzelius, B.A.1
  • 5
    • 0017769290 scopus 로고
    • The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility
    • Eliasson R., Mossberg B., Camner P., Afzelius B.A. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med 1977, 297(1):1-6.
    • (1977) N Engl J Med , vol.297 , Issue.1 , pp. 1-6
    • Eliasson, R.1    Mossberg, B.2    Camner, P.3    Afzelius, B.A.4
  • 6
    • 0016776771 scopus 로고
    • Evidence of congenitally nonfunctioning cilia in the tracheobronchial tract in two subjects
    • Camner P., Mossberg B., Afzelius B.A. Evidence of congenitally nonfunctioning cilia in the tracheobronchial tract in two subjects. Am Rev Respir Dis 1975, 112(6):807-809.
    • (1975) Am Rev Respir Dis , vol.112 , Issue.6 , pp. 807-809
    • Camner, P.1    Mossberg, B.2    Afzelius, B.A.3
  • 8
    • 84875864388 scopus 로고    scopus 로고
    • Emerging role of primary cilia as mechanosensors in osteocytes
    • Nguyen A.M., Jacobs C.R. Emerging role of primary cilia as mechanosensors in osteocytes. Bone 2013, 54(2):196-204.
    • (2013) Bone , vol.54 , Issue.2 , pp. 196-204
    • Nguyen, A.M.1    Jacobs, C.R.2
  • 9
    • 84938127692 scopus 로고    scopus 로고
    • A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation
    • Grati M., Chakchouk I., Ma Q., et al. A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. Hum Mol Genet 2015, 24(9):2482-2491.
    • (2015) Hum Mol Genet , vol.24 , Issue.9 , pp. 2482-2491
    • Grati, M.1    Chakchouk, I.2    Ma, Q.3
  • 10
    • 84901476399 scopus 로고    scopus 로고
    • The role of primary cilia in the development and disease of the retina
    • Wheway G., Parry D.A., Johnson C.A. The role of primary cilia in the development and disease of the retina. Organogenesis 2014, 10(1):69-85.
    • (2014) Organogenesis , vol.10 , Issue.1 , pp. 69-85
    • Wheway, G.1    Parry, D.A.2    Johnson, C.A.3
  • 11
    • 0037317302 scopus 로고    scopus 로고
    • Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
    • Nauli S.M., Alenghat F.J., Luo Y., et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003, 33(2):129-137.
    • (2003) Nat Genet , vol.33 , Issue.2 , pp. 129-137
    • Nauli, S.M.1    Alenghat, F.J.2    Luo, Y.3
  • 12
    • 84884211488 scopus 로고    scopus 로고
    • RPGR mutations might cause reduced orientation of respiratory cilia
    • Bukowy-Bieryllo Z., Zietkiewicz E., Loges N.T., et al. RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol 2013, 48(4):352-363.
    • (2013) Pediatr Pulmonol , vol.48 , Issue.4 , pp. 352-363
    • Bukowy-Bieryllo, Z.1    Zietkiewicz, E.2    Loges, N.T.3
  • 13
    • 79957797173 scopus 로고    scopus 로고
    • Notch-dependent differentiation of adult airway basal stem cells
    • Rock J.R., Gao X., Xue Y., et al. Notch-dependent differentiation of adult airway basal stem cells. Cell Stem Cell 2011, 8(6):639-648.
    • (2011) Cell Stem Cell , vol.8 , Issue.6 , pp. 639-648
    • Rock, J.R.1    Gao, X.2    Xue, Y.3
  • 14
    • 84912101188 scopus 로고    scopus 로고
    • Myb permits multilineage airway epithelial cell differentiation
    • Pan J.H., Adair-Kirk T.L., Patel A.C., et al. Myb permits multilineage airway epithelial cell differentiation. Stem Cells 2014, 32(12):3245-3256.
    • (2014) Stem Cells , vol.32 , Issue.12 , pp. 3245-3256
    • Pan, J.H.1    Adair-Kirk, T.L.2    Patel, A.C.3
  • 15
    • 2342417378 scopus 로고    scopus 로고
    • Foxj1 regulates basal body anchoring to the cytoskeleton of ciliated pulmonary epithelial cells
    • Gomperts B.N., Gong-Cooper X., Hackett B.P. Foxj1 regulates basal body anchoring to the cytoskeleton of ciliated pulmonary epithelial cells. J Cell Sci 2004, 117(Pt 8):1329-1337.
    • (2004) J Cell Sci , vol.117 , pp. 1329-1337
    • Gomperts, B.N.1    Gong-Cooper, X.2    Hackett, B.P.3
  • 16
    • 1642350333 scopus 로고    scopus 로고
    • Role of f-box factor foxj1 in differentiation of ciliated airway epithelial cells
    • You Y., Huang T., Richer E.J., et al. Role of f-box factor foxj1 in differentiation of ciliated airway epithelial cells. Am J Physiol Lung Cell Mol Physiol 2004, 286(4):L650-L657.
    • (2004) Am J Physiol Lung Cell Mol Physiol , vol.286 , Issue.4 , pp. L650-L657
    • You, Y.1    Huang, T.2    Richer, E.J.3
  • 18
    • 0033713259 scopus 로고    scopus 로고
    • The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans
    • Swoboda P., Adler H.T., Thomas J.H. The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans. Mol Cell 2000, 5(3):411-421.
    • (2000) Mol Cell , vol.5 , Issue.3 , pp. 411-421
    • Swoboda, P.1    Adler, H.T.2    Thomas, J.H.3
  • 19
    • 77953156491 scopus 로고    scopus 로고
    • Transcriptional regulation of the Alstrom syndrome gene ALMS1 by members of the RFX family and Sp1
    • Purvis T.L., Hearn T., Spalluto C., et al. Transcriptional regulation of the Alstrom syndrome gene ALMS1 by members of the RFX family and Sp1. Gene 2010, 460(1-2):20-29.
    • (2010) Gene , vol.460 , Issue.1-2 , pp. 20-29
    • Purvis, T.L.1    Hearn, T.2    Spalluto, C.3
  • 20
    • 84857033077 scopus 로고    scopus 로고
    • RFX2 is broadly required for ciliogenesis during vertebrate development
    • Chung M.I., Peyrot S.M., LeBoeuf S., et al. RFX2 is broadly required for ciliogenesis during vertebrate development. Dev Biol 2012, 363(1):155-165.
    • (2012) Dev Biol , vol.363 , Issue.1 , pp. 155-165
    • Chung, M.I.1    Peyrot, S.M.2    LeBoeuf, S.3
  • 21
    • 84857969602 scopus 로고    scopus 로고
    • Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1
    • Alten L., Schuster-Gossler K., Beckers A., et al. Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1. Development 2012, 139(7):1276-1284.
    • (2012) Development , vol.139 , Issue.7 , pp. 1276-1284
    • Alten, L.1    Schuster-Gossler, K.2    Beckers, A.3
  • 22
    • 84879831717 scopus 로고    scopus 로고
    • RFX3 modulation of FOXJ1 regulation of cilia genes in the human airway epithelium
    • Didon L., Zwick R.K., Chao I.W., et al. RFX3 modulation of FOXJ1 regulation of cilia genes in the human airway epithelium. Respir Res 2013, 14:70.
    • (2013) Respir Res , vol.14 , pp. 70
    • Didon, L.1    Zwick, R.K.2    Chao, I.W.3
  • 23
    • 56749163207 scopus 로고    scopus 로고
    • Foxj1 transcription factors are master regulators of the motile ciliogenic program
    • Yu X., Ng C.P., Habacher H., Roy S. Foxj1 transcription factors are master regulators of the motile ciliogenic program. Nat Genet 2008, 40(12):1445-1453.
    • (2008) Nat Genet , vol.40 , Issue.12 , pp. 1445-1453
    • Yu, X.1    Ng, C.P.2    Habacher, H.3    Roy, S.4
  • 24
    • 70350362831 scopus 로고    scopus 로고
    • RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies
    • El Zein L., Ait-Lounis A., Morle L., et al. RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies. J Cell Sci 2009, 122(Pt 17):3180-3189.
    • (2009) J Cell Sci , vol.122 , pp. 3180-3189
    • El Zein, L.1    Ait-Lounis, A.2    Morle, L.3
  • 25
    • 2342501364 scopus 로고    scopus 로고
    • Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
    • Li J.B., Gerdes J.M., Haycraft C.J., et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 2004, 117(4):541-552.
    • (2004) Cell , vol.117 , Issue.4 , pp. 541-552
    • Li, J.B.1    Gerdes, J.M.2    Haycraft, C.J.3
  • 26
    • 84934439875 scopus 로고    scopus 로고
    • The evolution of eukaryotic cilia and flagella as motile and sensory organelles
    • Mitchell D.R. The evolution of eukaryotic cilia and flagella as motile and sensory organelles. Adv Exp Med Biol 2007, 607:130-140.
    • (2007) Adv Exp Med Biol , vol.607 , pp. 130-140
    • Mitchell, D.R.1
  • 27
    • 22244458310 scopus 로고    scopus 로고
    • Proteomic analysis of a eukaryotic cilium
    • Pazour G.J., Agrin N., Leszyk J., Witman G.B. Proteomic analysis of a eukaryotic cilium. J Cell Biol 2005, 170(1):103-113.
    • (2005) J Cell Biol , vol.170 , Issue.1 , pp. 103-113
    • Pazour, G.J.1    Agrin, N.2    Leszyk, J.3    Witman, G.B.4
  • 28
    • 0038421025 scopus 로고    scopus 로고
    • Elucidation of basal body and centriole functions in Chlamydomonas reinhardtii
    • Dutcher S.K. Elucidation of basal body and centriole functions in Chlamydomonas reinhardtii. Traffic 2003, 4(7):443-451.
    • (2003) Traffic , vol.4 , Issue.7 , pp. 443-451
    • Dutcher, S.K.1
  • 29
    • 33747598723 scopus 로고    scopus 로고
    • The molecular architecture of axonemes revealed by cryoelectron tomography
    • Nicastro D., Schwartz C., Pierson J., et al. The molecular architecture of axonemes revealed by cryoelectron tomography. Science 2006, 313(5789):944-948.
    • (2006) Science , vol.313 , Issue.5789 , pp. 944-948
    • Nicastro, D.1    Schwartz, C.2    Pierson, J.3
  • 30
    • 34247538435 scopus 로고    scopus 로고
    • Three-dimensional structures of the flagellar dynein-microtubule complex by cryoelectron microscopy
    • Oda T., Hirokawa N., Kikkawa M. Three-dimensional structures of the flagellar dynein-microtubule complex by cryoelectron microscopy. J Cell Biol 2007, 177(2):243-252.
    • (2007) J Cell Biol , vol.177 , Issue.2 , pp. 243-252
    • Oda, T.1    Hirokawa, N.2    Kikkawa, M.3
  • 31
    • 84910633774 scopus 로고    scopus 로고
    • A molecular ruler determines the repeat length in eukaryotic cilia and flagella
    • Oda T., Yanagisawa H., Kamiya R., Kikkawa M. A molecular ruler determines the repeat length in eukaryotic cilia and flagella. Science 2014, 346(6211):857-860.
    • (2014) Science , vol.346 , Issue.6211 , pp. 857-860
    • Oda, T.1    Yanagisawa, H.2    Kamiya, R.3    Kikkawa, M.4
  • 32
    • 0023083510 scopus 로고
    • Bending patterns of Chlamydomonas flagella: IV. Mutants with defects in inner and outer dynein arms indicate differences in dynein arm function
    • Brokaw C.J., Kamiya R. Bending patterns of Chlamydomonas flagella: IV. Mutants with defects in inner and outer dynein arms indicate differences in dynein arm function. Cell Motil Cytoskeleton 1987, 8(1):68-75.
    • (1987) Cell Motil Cytoskeleton , vol.8 , Issue.1 , pp. 68-75
    • Brokaw, C.J.1    Kamiya, R.2
  • 33
    • 84908192202 scopus 로고    scopus 로고
    • Equations of interdoublet separation during flagella motion reveal mechanisms of wave propagation and instability
    • Bayly P.V., Wilson K.S. Equations of interdoublet separation during flagella motion reveal mechanisms of wave propagation and instability. Biophys J 2014, 107(7):1756-1772.
    • (2014) Biophys J , vol.107 , Issue.7 , pp. 1756-1772
    • Bayly, P.V.1    Wilson, K.S.2
  • 34
    • 33748335482 scopus 로고    scopus 로고
    • The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
    • Gherman A., Davis E.E., Katsanis N. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 2006, 38(9):961-962.
    • (2006) Nat Genet , vol.38 , Issue.9 , pp. 961-962
    • Gherman, A.1    Davis, E.E.2    Katsanis, N.3
  • 35
    • 0028359813 scopus 로고
    • Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)
    • Narayan D., Krishnan S.N., Upender M., et al. Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet 1994, 31(6):493-496.
    • (1994) J Med Genet , vol.31 , Issue.6 , pp. 493-496
    • Narayan, D.1    Krishnan, S.N.2    Upender, M.3
  • 36
    • 33645765214 scopus 로고    scopus 로고
    • RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
    • Moore A., Escudier E., Roger G., et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 2006, 43(4):326-333.
    • (2006) J Med Genet , vol.43 , Issue.4 , pp. 326-333
    • Moore, A.1    Escudier, E.2    Roger, G.3
  • 37
    • 0442313529 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: diagnostic and phenotypic features
    • Noone P.G., Leigh M.W., Sannuti A., et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004, 169(4):459-467.
    • (2004) Am J Respir Crit Care Med , vol.169 , Issue.4 , pp. 459-467
    • Noone, P.G.1    Leigh, M.W.2    Sannuti, A.3
  • 38
    • 71149086940 scopus 로고    scopus 로고
    • Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
    • Loges N.T., Olbrich H., Becker-Heck A., et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet 2009, 85(6):883-889.
    • (2009) Am J Hum Genet , vol.85 , Issue.6 , pp. 883-889
    • Loges, N.T.1    Olbrich, H.2    Becker-Heck, A.3
  • 39
    • 84858840334 scopus 로고    scopus 로고
    • Ciliopathies: the central role of cilia in a spectrum of pediatric disorders
    • Ferkol T.W., Leigh M.W. Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J Pediatr 2012, 160(3):366-371.
    • (2012) J Pediatr , vol.160 , Issue.3 , pp. 366-371
    • Ferkol, T.W.1    Leigh, M.W.2
  • 40
    • 57349137660 scopus 로고    scopus 로고
    • Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
    • Omran H., Kobayashi D., Olbrich H., et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 2008, 456(7222):611-616.
    • (2008) Nature , vol.456 , Issue.7222 , pp. 611-616
    • Omran, H.1    Kobayashi, D.2    Olbrich, H.3
  • 41
    • 84859436123 scopus 로고    scopus 로고
    • Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
    • S1-2
    • Mitchison H.M., Schmidts M., Loges N.T., et al. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet 2012, 44(4):381-389. S1-2.
    • (2012) Nat Genet , vol.44 , Issue.4 , pp. 381-389
    • Mitchison, H.M.1    Schmidts, M.2    Loges, N.T.3
  • 42
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - the next generation
    • Metzker M.L. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11(1):31-46.
    • (2010) Nat Rev Genet , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 43
    • 84867259922 scopus 로고    scopus 로고
    • Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
    • Horani A., Druley T.E., Zariwala M.A., et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012, 91(4):685-693.
    • (2012) Am J Hum Genet , vol.91 , Issue.4 , pp. 685-693
    • Horani, A.1    Druley, T.E.2    Zariwala, M.A.3
  • 44
    • 84872285578 scopus 로고    scopus 로고
    • Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    • Knowles M.R., Leigh M.W., Ostrowski L.E., et al. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet 2013, 92(1):99-106.
    • (2013) Am J Hum Genet , vol.92 , Issue.1 , pp. 99-106
    • Knowles, M.R.1    Leigh, M.W.2    Ostrowski, L.E.3
  • 45
    • 84859823623 scopus 로고    scopus 로고
    • Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
    • Knowles M.R., Leigh M.W., Carson J.L., et al. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012, 67(5):433-441.
    • (2012) Thorax , vol.67 , Issue.5 , pp. 433-441
    • Knowles, M.R.1    Leigh, M.W.2    Carson, J.L.3
  • 46
    • 0036479029 scopus 로고    scopus 로고
    • Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
    • Olbrich H., Haffner K., Kispert A., et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002, 30(2):143-144.
    • (2002) Nat Genet , vol.30 , Issue.2 , pp. 143-144
    • Olbrich, H.1    Haffner, K.2    Kispert, A.3
  • 47
    • 0035068576 scopus 로고    scopus 로고
    • Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
    • Guichard C., Harricane M.C., Lafitte J.J., et al. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet 2001, 68(4):1030-1035.
    • (2001) Am J Hum Genet , vol.68 , Issue.4 , pp. 1030-1035
    • Guichard, C.1    Harricane, M.C.2    Lafitte, J.J.3
  • 48
    • 78651254549 scopus 로고    scopus 로고
    • The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
    • Becker-Heck A., Zohn I.E., Okabe N., et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet 2011, 43(1):79-84.
    • (2011) Nat Genet , vol.43 , Issue.1 , pp. 79-84
    • Becker-Heck, A.1    Zohn, I.E.2    Okabe, N.3
  • 49
    • 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., Davis E.E., Becker-Heck A., 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 2011, 43(1):72-78.
    • (2011) Nat Genet , vol.43 , Issue.1 , pp. 72-78
    • Merveille, A.C.1    Davis, E.E.2    Becker-Heck, A.3
  • 50
    • 80052987797 scopus 로고    scopus 로고
    • The emerging genetics of primary ciliary dyskinesia
    • Zariwala M.A., Omran H., Ferkol T.W. The emerging genetics of primary ciliary dyskinesia. Proc Am Thorac Soc 2011, 8(5):430-433.
    • (2011) Proc Am Thorac Soc , vol.8 , Issue.5 , pp. 430-433
    • Zariwala, M.A.1    Omran, H.2    Ferkol, T.W.3
  • 51
    • 33749843285 scopus 로고    scopus 로고
    • Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation
    • Zariwala M.A., Leigh M.W., Ceppa F., et al. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med 2006, 174(8):858-866.
    • (2006) Am J Respir Crit Care Med , vol.174 , Issue.8 , pp. 858-866
    • Zariwala, M.A.1    Leigh, M.W.2    Ceppa, F.3
  • 52
    • 0033748135 scopus 로고    scopus 로고
    • Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene
    • Omran H., Haffner K., Volkel A., et al. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. Am J Respir Cell Mol Biol 2000, 23(5):696-702.
    • (2000) Am J Respir Cell Mol Biol , vol.23 , Issue.5 , pp. 696-702
    • Omran, H.1    Haffner, K.2    Volkel, A.3
  • 53
    • 79955856801 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1
    • Mazor M., Alkrinawi S., Chalifa-Caspi V., et al. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet 2011, 88(5):599-607.
    • (2011) Am J Hum Genet , vol.88 , Issue.5 , pp. 599-607
    • Mazor, M.1    Alkrinawi, S.2    Chalifa-Caspi, V.3
  • 54
    • 55249083702 scopus 로고    scopus 로고
    • DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm
    • Loges N.T., Olbrich H., Fenske L., et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008, 83(5):547-558.
    • (2008) Am J Hum Genet , vol.83 , Issue.5 , pp. 547-558
    • Loges, N.T.1    Olbrich, H.2    Fenske, L.3
  • 55
    • 33847678960 scopus 로고    scopus 로고
    • A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
    • Duriez B., Duquesnoy P., Escudier E., et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci U S A 2007, 104(9):3336-3341.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.9 , pp. 3336-3341
    • Duriez, B.1    Duquesnoy, P.2    Escudier, E.3
  • 56
    • 77953508175 scopus 로고    scopus 로고
    • New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure
    • Pifferi M., Michelucci A., Conidi M.E., et al. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Eur Respir J 2010, 35(6):1413-1416.
    • (2010) Eur Respir J , vol.35 , Issue.6 , pp. 1413-1416
    • Pifferi, M.1    Michelucci, A.2    Conidi, M.E.3
  • 57
    • 84908250713 scopus 로고    scopus 로고
    • CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation
    • Hjeij R., Onoufriadis A., Watson C.M., et al. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet 2014, 95(3):257-274.
    • (2014) Am J Hum Genet , vol.95 , Issue.3 , pp. 257-274
    • Hjeij, R.1    Onoufriadis, A.2    Watson, C.M.3
  • 58
    • 84867244938 scopus 로고    scopus 로고
    • Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
    • Olbrich H., Schmidts M., Werner C., et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012, 91(4):672-684.
    • (2012) Am J Hum Genet , vol.91 , Issue.4 , pp. 672-684
    • Olbrich, H.1    Schmidts, M.2    Werner, C.3
  • 59
    • 62649153946 scopus 로고    scopus 로고
    • Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities
    • Castleman V.H., Romio L., Chodhari R., et al. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet 2009, 84(2):197-209.
    • (2009) Am J Hum Genet , vol.84 , Issue.2 , pp. 197-209
    • Castleman, V.H.1    Romio, L.2    Chodhari, R.3
  • 60
    • 33645744387 scopus 로고    scopus 로고
    • Radial spoke proteins of Chlamydomonas flagella
    • Yang P., Diener D.R., Yang C., et al. Radial spoke proteins of Chlamydomonas flagella. J Cell Sci 2006, 119(Pt 6):1165-1174.
    • (2006) J Cell Sci , vol.119 , pp. 1165-1174
    • Yang, P.1    Diener, D.R.2    Yang, C.3
  • 61
    • 84883097334 scopus 로고    scopus 로고
    • CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia
    • Horani A., Brody S.L., Ferkol T.W., et al. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One 2013, 8(8):pe72299.
    • (2013) PLoS One , vol.8 , Issue.8 , pp. pe72299
    • Horani, A.1    Brody, S.L.2    Ferkol, T.W.3
  • 62
    • 84861640948 scopus 로고    scopus 로고
    • CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
    • Panizzi J.R., Becker-Heck A., Castleman V.H., et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet 2012, 44(6):714-719.
    • (2012) Nat Genet , vol.44 , Issue.6 , pp. 714-719
    • Panizzi, J.R.1    Becker-Heck, A.2    Castleman, V.H.3
  • 63
    • 84875099215 scopus 로고    scopus 로고
    • LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects
    • Horani A., Ferkol T.W., Shoseyov D., et al. LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One 2013, 8(3):pe59436.
    • (2013) PLoS One , vol.8 , Issue.3 , pp. pe59436
    • Horani, A.1    Ferkol, T.W.2    Shoseyov, D.3
  • 64
    • 84883446171 scopus 로고    scopus 로고
    • DYX1C1 is required for axonemal dynein assembly and ciliary motility
    • Tarkar A., Loges N.T., Slagle C.E., et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013, 45(9):995-1003.
    • (2013) Nat Genet , vol.45 , Issue.9 , pp. 995-1003
    • Tarkar, A.1    Loges, N.T.2    Slagle, C.E.3
  • 65
    • 84881664454 scopus 로고    scopus 로고
    • ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
    • Zariwala M.A., Gee H.Y., Kurkowiak M., et al. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013, 93(2):336-345.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 336-345
    • Zariwala, M.A.1    Gee, H.Y.2    Kurkowiak, M.3
  • 66
    • 84881668924 scopus 로고    scopus 로고
    • ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry
    • Hjeij R., Lindstrand A., Francis R., et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 2013, 93(2):357-367.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 357-367
    • Hjeij, R.1    Lindstrand, A.2    Francis, R.3
  • 67
    • 84856321938 scopus 로고    scopus 로고
    • Ciliary motility: the components and cytoplasmic preassembly mechanisms of the axonemal dyneins
    • Kobayashi D., Takeda H. Ciliary motility: the components and cytoplasmic preassembly mechanisms of the axonemal dyneins. Differentiation 2012, 83(2):S23-S29.
    • (2012) Differentiation , vol.83 , Issue.2 , pp. S23-S29
    • Kobayashi, D.1    Takeda, H.2
  • 68
    • 77954244487 scopus 로고    scopus 로고
    • Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-beta2 and RanGTP
    • Dishinger J.F., Kee H.L., Jenkins P.M., et al. Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-beta2 and RanGTP. Nat Cell Biol 2010, 12(7):703-710.
    • (2010) Nat Cell Biol , vol.12 , Issue.7 , pp. 703-710
    • Dishinger, J.F.1    Kee, H.L.2    Jenkins, P.M.3
  • 69
    • 0021094739 scopus 로고
    • Aplasia of respiratory tract cilia
    • Gotz M., Stockinger L. Aplasia of respiratory tract cilia. Lancet 1983, 1(8336):1283.
    • (1983) Lancet , vol.1 , Issue.8336 , pp. 1283
    • Gotz, M.1    Stockinger, L.2
  • 70
    • 0024342840 scopus 로고
    • Congenital ciliary aplasia in two siblings. A primitive disregulation of ciliogenesis?
    • Richard S., Nezelof C., Pfister A., et al. Congenital ciliary aplasia in two siblings. A primitive disregulation of ciliogenesis?. Pathol Res Pract 1989, 185(2):181-183.
    • (1989) Pathol Res Pract , vol.185 , Issue.2 , pp. 181-183
    • Richard, S.1    Nezelof, C.2    Pfister, A.3
  • 71
    • 0026902393 scopus 로고
    • Aplasia of respiratory tract cilia
    • DeBoeck K., Jorissen M., Wouters K., et al. Aplasia of respiratory tract cilia. Pediatr Pulmonol 1992, 13(4):259-265.
    • (1992) Pediatr Pulmonol , vol.13 , Issue.4 , pp. 259-265
    • DeBoeck, K.1    Jorissen, M.2    Wouters, K.3
  • 72
    • 84906274398 scopus 로고    scopus 로고
    • MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
    • Boon M., Wallmeier J., Ma L., et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun 2014, 5:p4418.
    • (2014) Nat Commun , vol.5 , pp. p4418
    • Boon, M.1    Wallmeier, J.2    Ma, L.3
  • 73
    • 84901651947 scopus 로고    scopus 로고
    • Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
    • Wallmeier J., Al-Mutairi D.A., Chen C.T., et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet 2014, 46(6):646-651.
    • (2014) Nat Genet , vol.46 , Issue.6 , pp. 646-651
    • Wallmeier, J.1    Al-Mutairi, D.A.2    Chen, C.T.3
  • 74
    • 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 2008, 40(12):1454-1460.
    • (2008) Nat Genet , vol.40 , Issue.12 , pp. 1454-1460
    • Stubbs, J.L.1    Oishi, I.2    Izpisua Belmonte, J.C.3    Kintner, C.4
  • 75
    • 84903788691 scopus 로고    scopus 로고
    • Multicilin drives centriole biogenesis via E2f proteins
    • Ma L., Quigley I., Omran H., Kintner C. Multicilin drives centriole biogenesis via E2f proteins. Genes Dev 2014, 28(13):1461-1471.
    • (2014) Genes Dev , vol.28 , Issue.13 , pp. 1461-1471
    • Ma, L.1    Quigley, I.2    Omran, H.3    Kintner, C.4
  • 76
    • 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 2012, 14(2):140-147.
    • (2012) Nat Cell Biol , vol.14 , Issue.2 , pp. 140-147
    • Stubbs, J.L.1    Vladar, E.K.2    Axelrod, J.D.3    Kintner, C.4
  • 77
    • 79957895825 scopus 로고    scopus 로고
    • Control of vertebrate multiciliogenesis by miR-449 through direct repression of the Delta/Notch pathway
    • Marcet B., Chevalier B., Luxardi G., et al. Control of vertebrate multiciliogenesis by miR-449 through direct repression of the Delta/Notch pathway. Nat Cell Biol 2011, 13(6):693-699.
    • (2011) Nat Cell Biol , vol.13 , Issue.6 , pp. 693-699
    • Marcet, B.1    Chevalier, B.2    Luxardi, G.3
  • 78
    • 84880636246 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities
    • Ferkol T.W., Puffenberger E.G., Lie H., et al. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr 2013, 163(2):383-387.
    • (2013) J Pediatr , vol.163 , Issue.2 , pp. 383-387
    • Ferkol, T.W.1    Puffenberger, E.G.2    Lie, H.3
  • 79
    • 0026419950 scopus 로고
    • Effects of a change in the level of inbreeding on the genetic load
    • Barrett S.C., Charlesworth D. Effects of a change in the level of inbreeding on the genetic load. Nature 1991, 352(6335):522-524.
    • (1991) Nature , vol.352 , Issue.6335 , pp. 522-524
    • Barrett, S.C.1    Charlesworth, D.2
  • 80
    • 84884592445 scopus 로고    scopus 로고
    • Genic intolerance to functional variation and the interpretation of personal genomes
    • Petrovski S., Wang Q., Heinzen E.L., Allen A.S., Goldstein D.B. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013, 9(8):pe1003709.
    • (2013) PLoS Genet , vol.9 , Issue.8 , pp. pe1003709
    • Petrovski, S.1    Wang, Q.2    Heinzen, E.L.3    Allen, A.S.4    Goldstein, D.B.5
  • 81
    • 84922309553 scopus 로고    scopus 로고
    • Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype
    • Davis S.D., Ferkol T.W., Rosenfeld M., et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med 2015, 191(3):316-324.
    • (2015) Am J Respir Crit Care Med , vol.191 , Issue.3 , pp. 316-324
    • Davis, S.D.1    Ferkol, T.W.2    Rosenfeld, M.3
  • 82
    • 84886431107 scopus 로고    scopus 로고
    • Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia
    • Leigh M.W., Hazucha M.J., Chawla K.K., et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc 2013, 10(6):574-581.
    • (2013) Ann Am Thorac Soc , vol.10 , Issue.6 , pp. 574-581
    • Leigh, M.W.1    Hazucha, M.J.2    Chawla, K.K.3
  • 83
    • 84937531931 scopus 로고    scopus 로고
    • Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
    • Frommer A., Hjeij R., Loges N.T., et al. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. Am J Respir Cell Mol Biol 2015.
    • (2015) Am J Respir Cell Mol Biol
    • Frommer, A.1    Hjeij, R.2    Loges, N.T.3
  • 84
    • 84875831962 scopus 로고    scopus 로고
    • Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis
    • Pifferi M., Bush A., Montemurro F., et al. Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis. Eur Respir J 2013, 41(4):960-965.
    • (2013) Eur Respir J , vol.41 , Issue.4 , pp. 960-965
    • Pifferi, M.1    Bush, A.2    Montemurro, F.3
  • 85
    • 84916204795 scopus 로고    scopus 로고
    • Diagnostic accuracy of nitric oxide measurements to detect primary ciliary dyskinesia
    • Boon M., Meyts I., Proesmans M., et al. Diagnostic accuracy of nitric oxide measurements to detect primary ciliary dyskinesia. Eur J Clin Invest 2014, 44(5):477-485.
    • (2014) Eur J Clin Invest , vol.44 , Issue.5 , pp. 477-485
    • Boon, M.1    Meyts, I.2    Proesmans, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.