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  • Baker K, Beales PL. 2009. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet 151C:281295.
  • Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A. 2009. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 34:12641276.
  • Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, ozier-Blanchet CD, Craigen WJ, Antonarakis SE. 2002. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci USA 99:1028210286.
  • Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA. 2011. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med 13:218229.
  • Bozzola JJ, Russell LD. 1991. Electron microscopy. Boston: Jones and Bartlett.
  • Brown SD, Chambon P, de Angelis MH. 2005. EMPReSS: standardized phenotype screens for functional annotation of the mouse genome. Nat Genet 37:1155.
  • Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, Hariri M, Hogg C, Lucas J, Mitchison HM, O'Callaghan C, Phillips G. 2007. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 92:11361140.
  • Chilvers MA, Rutman A, O'Callaghan C. 2003. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immun 112:518524.
  • Davidson DJ, Rolfe M. 2001. Mouse models of cystic fibrosis. Trends Genet 17:S29S37.
  • Dutcher SK. 1995. Flagellar assembly in two hundred and fifty easy-to-follow steps. Trends Genet 11:398404.
  • Ermakov A, Stevens JL, Whitehill E, Robson JE, Pieles G, Brooker D, Goggolidou P, Powles-Glover N, Hacker T, Young SR, Dear N, Hirst E, Tymowska-Lalanne Z, Briscoe J, Bhattacharya S, Norris DP. 2009. Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development. Dev Dynam 238:581594.
  • EUMORPHIA Consortium. 2007. Understanding Human Disease Through Mouse Genetics. www.eumorphia.org.
  • Gherman A, Davis EE, Katsanis N. 2006. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 38:961962.
  • Greenstone MA, Dewar A, Cole PJ. 1983. Ciliary dyskinesia with normal ultrastructure. Thorax 38:875876.
  • Handel MA, Kennedy JR. 1984. Situs inversus in homozygous mice without immotile cilia. J Hered 75:498.
  • Hummel KP, Chapman DB. 1959. Visceral inversion and associated anomalies in the mouse. J Hered 50:913.
  • Ibanez-Tallon I, Gorokhova S, Heintz N. 2002. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum Mol Genet 11:715721.
  • Icardo JM. 1990. Development of the outflow tract. a study in hearts with situs solitus and situs inversus. Ann NY Acad Sci 588:2640.
  • Icardo JM, Sanchez de Vega MJ. 1991. Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. Circulation 84:25472558.
  • Jorissen M, Willems T, Van der Schueren B, Verbeken E, De BK. 2000. Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture. Acta Otorhinolaryngol Belg 54:343356.
  • Kartagener M, Horlacher A. 1935. Bronchiektasen bei Situs viscerum inversus. Schweiz Med Wochenschr 16:782784.
  • Kobayashi Y, Watanabe M, Okada Y, Sawa H, Takai H, Nakanishi M, Kawase Y, Suzuki H, Nagashima K, Ikeda K, Motoyama N. 2002. Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome. Mol Cell Biol 22:27692776.
  • Layton WM, Jr. 1976. Random determination of a developmental process: reversal of normal visceral asymmetry in the mouse. J Hered 67:336338.
  • Lee L, Campagna DR, Pinkus JL, Mulhern H, Wyatt TA, Sisson JH, Pavlik JA, Pinkus GS, Fleming MD. 2008. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Mol Cell Biol 28:949957.
  • Love D, Li FQ, Burke MC, Cyge B, Ohmitsu M, Cabello J, Larson JE, Brody SL, Cohen JC, Takemaru K. 2010. Altered lung morphogenesis, epithelial cell differentiation and mechanics in mice deficient in the Wnt/beta-catenin antagonist Chibby. PLoS One 5:e13600.
  • Mitchison TJ, Mitchison HM. 2010. Cell biology: how cilia beat. Nature 463:308309.
  • Munro NC, Currie DC, Lindsay KS, Ryder TA, Rutman A, Dewar A, Greenstone MA, Hendry WF, Cole PJ. 1994. Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. Thorax 49:684687.
  • Nonaka S, Shiratori H, Saijoh Y, Hamada H. 2002. Determination of left-right patterning of the mouse embryo by artificial nodal flow. Nature 418:9699.
  • Ohgami RS, Campagna DR, Antiochos B, Wood EB, Sharp JJ, Barker JE, Fleming MD. 2005. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood 106:36253631.
  • Okada Y, Nonaka S, Tanaka Y, Saijoh Y, Hamada H, Hirokawa N. 1999. Abnormal nodal flow precedes situs inversus in iv and inv mice. Mol Cell 4:459468.
  • Ostrowski LE, Blackburn K, Radde KM, Moyer MB, Schlatzer DM, Moseley A, Boucher RC. 2002. A proteomic analysis of human cilia: identification of novel components. Mol Cell Proteomics 1:451465.
  • Ostrowski LE, Yin W, Rogers TD, Busalacchi KB, Chua M, O'Neal WK, Grubb BR. 2010. Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am J Resp Cell Mol Biol 43:5563.
  • Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S, Escudier E. 2010. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Respir J 35:10571063.
  • Parkinson N, Hardisty-Hughes RE, Tateossian H, Tsai HT, Brooker D, Morse S, Lalane Z, MacKenzie F, Fray M, Glenister P, Woodward AM, Polley S, Barbaric I, Dear N, Hough TA, Hunter AJ, Cheeseman MT, Brown SD. 2006. Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media. PLoS Genet 2:e149.
  • Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL. 2010. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Eur Respir J 35:14131416.
  • Rutland J, Dewar A, Cox T, Cole P. 1982. Nasal brushing for the study of ciliary ultrastructure. J Clin Pathol 35:357359.
  • Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L. 2008. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 29:289298.
  • Supp DM, Brueckner M, Kuehn MR, Witte DP, Lowe LA, McGrath J, Corrales J, Potter SS. 1999. Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development 126:54955504.
  • Supp DM, Witte DP, Potter SS, Brueckner M. 1997. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature 389:963966.
  • Tan SY, Rosenthal J, Zhao XQ, Francis RJ, Chatterjee B, Sabol SL, Linask KL, Bracero L, Connelly PS, Daniels MP, Yu Q, Omran H, Leatherbury L, Lo CW. 2007. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest 117:37423752.
  • Tanaka H, Iguchi N, Toyama Y, Kitamura K, Takahashi T, Kaseda K, Maekawa M, Nishimune Y. 2004. Mice deficient in the axonemal protein Tektin-t exhibit male infertility and immotile-cilium syndrome due to impaired inner arm dynein function. Mol Cell Biol 24:79587964.
  • Vogel P, Hansen G, Fontenot G, Read R. 2010. Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice. Vet Pathol 47:703712.
  • Zhang Z, Tang W, Zhou R, Shen X, Wei Z, Patel AM, Povlishock JT, Bennett J, Strauss JF, III. 2007. Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins. Cell Motil Cytoskel 64:360376.