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. 2019;4(1-2):51-75.
doi: 10.3233/TRD-190036. Epub 2019 Jul 4.

Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia

Margaret W Leigh  1 , Amjad Horani  2 , BreAnna Kinghorn  3 , Michael G O'Connor  4 , Maimoona A Zariwala  5 , Michael R Knowles  6
Affiliations

Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia

Margaret W Leigh et al. Transl Sci Rare Dis. 2019.
No abstract available

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Figures

Fig. 1.
Fig. 1.
Transmission electron photomicrograph (left) and schematic diagram (right) of a normal motor cilium in cross-section showing the ultrastructural features of the ciliary axoneme.
Fig. 2.
Fig. 2.
Examples of laterality defects on radiology imaging in various situs groups [133]. Examples of various laterality defects on radiology imaging in PCD. Different situs arrangements found in PCD, including (A) a participant with situs solitus, or normal organ arrangement, with left cardiac apex, left‐sided stomach bubble, and right‐sided liver; (B) a patient with situs inversus totalis (SIT), or mirror‐image organ arrangement, with right cardiac apex, right‐sided stomach bubble, and left‐sided liver; (C) a patient with situs ambiguus (SA), with left cardiac apex, right‐sided stomach bubble, right‐sided liver, and intestinal malrotation; This patient also had right‐sided polysplenia visualized on a CT scan. C, cardiac apex; S, stomach; L, liver; M, intestinal malrotation. Image and legend reproduced from Shapiro et al, Chest, 2014, with permission from Elsevier [133].
See this image and copyright information in PMC

References

    1. Afzelius BA, A human syndrome caused by immotile cilia, Science 193 (1976), 317–319. - PubMed
    1. Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O’Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, and Mitchison HM, Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms, Hum Mutat 34 (2013), 462–472. - PMC - PubMed
    1. Arnal JF, Flores P, Rami J, Murris-Espin M, Bremont F, Pasto IAM, Serrano E, and Didier A, Nasal nitric oxide concentration in paranasal sinus inflammatory diseases, Eur Respir J 13 (1999), 307–312. - PubMed
    1. Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O’Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, and Hildebrandt F, Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia, Am J Hum Genet 93 (2013), 672–686. - PMC - PubMed
    1. Awata J, Takada S, Standley C, Lechtreck KF, Bellve KD, Pazour GJ, Fogarty KE, and Witman GB, NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone, J Cell Sci 127 (2014), 4714–4727. - PMC - PubMed