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The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia (PCD).

Shoemark A, Rubbo B, Haarman E, Hirst RA, Hogg C, Jackson CL, Nielsen KN, Papon JF, Robinson P, Walker WT, Lucas JS.

Am J Respir Crit Care Med. 2019 Aug 21. doi: 10.1164/rccm.201907-1334LE. [Epub ahead of print] No abstract available.


Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM.

Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21.


Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium, Boycott KM, Bastin P, Sheridan EG.

Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.


Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.

Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M, Rogers AV, Hirst RA, Rutman A, Ollosson S, Jackson CL, Goggin P, Thomas S, Pengelly R, Cullup T, Pissaridou E, Hayward J, Onoufriadis A, O'Callaghan C, Loebinger MR, Wilson R, Chung EM, Kenia P, Doughty VL, Carvalho JS, Lucas JS, Mitchison HM, Hogg C.

Thorax. 2019 Feb;74(2):203-205. doi: 10.1136/thoraxjnl-2018-212104. Epub 2018 Aug 30.


Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia.

O'Callaghan C, Rutman A, Williams G, Kulkarni N, Hayes J, Hirst RA.

Respir Res. 2018 Jun 25;19(1):125. doi: 10.1186/s12931-018-0782-3.


Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1.

Halbeisen F, Hogg C, Alanin MC, Bukowy-Bieryllo Z, Dasi F, Duncan J, Friend A, Goutaki M, Jackson C, Keenan V, Harris A, Hirst RA, Latzin P, Marsh G, Nielsen K, Norris D, Pellicer D, Reula A, Rubbo B, Rumman N, Shoemark A, Walker WT, Kuehni CE, Lucas JS.

BMC Proc. 2018 Mar 5;12(Suppl 2):1. doi: 10.1186/s12919-018-0098-9. eCollection 2018.


Exploring the Art of Ciliary Beating: The Benefits of High-Speed Video Analysis.

Lucas JS, Evans HJ, Haarman EG, Hirst RA, Hogg C, Jackson CL, Nielsen KG, Omran H, Papon JF, Robinson P, Shoemark A, Walker WT.

Chest. 2017 Dec;152(6):1348-1349. doi: 10.1016/j.chest.2017.06.053. No abstract available.


High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM.

Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8.


Severe asthma: Differential chemokine response of airway epithelial cells.

Thomas B, Hirst RA, Brett-Pitt MH, Williams G, Andrew PW, Sousa AR, Marshall RP, Brightling C, O'Callaghan C.

J Allergy Clin Immunol. 2017 Oct;140(4):1149-1152.e10. doi: 10.1016/j.jaci.2017.02.040. Epub 2017 Apr 12. No abstract available.


A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.

Banks G, Lassi G, Hoerder-Suabedissen A, Tinarelli F, Simon MM, Wilcox A, Lau P, Lawson TN, Johnson S, Rutman A, Sweeting M, Chesham JE, Barnard AR, Horner N, Westerberg H, Smith LB, Molnár Z, Hastings MH, Hirst RA, Tucci V, Nolan PM.

Mol Psychiatry. 2018 Mar;23(3):713-722. doi: 10.1038/mp.2017.54. Epub 2017 Apr 4.


BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity.

Munye MM, Shoemark A, Hirst RA, Delhove JM, Sharp TV, McKay TR, O'Callaghan C, Baines DL, Howe SJ, Hart SL.

Am J Physiol Lung Cell Mol Physiol. 2017 Feb 1;312(2):L258-L267. doi: 10.1152/ajplung.00471.2016. Epub 2016 Dec 15.


European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE.

Eur Respir J. 2017 Jan 4;49(1). pii: 1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.


Hypoxia upregulates neutrophil degranulation and potential for tissue injury.

Hoenderdos K, Lodge KM, Hirst RA, Chen C, Palazzo SG, Emerenciana A, Summers C, Angyal A, Porter L, Juss JK, O'Callaghan C, Chilvers ER, Condliffe AM.

Thorax. 2016 Nov;71(11):1030-1038. doi: 10.1136/thoraxjnl-2015-207604. Epub 2016 Aug 31.


Evidence of Respiratory Syncytial Virus Spread by Aerosol. Time to Revisit Infection Control Strategies?

Kulkarni H, Smith CM, Lee Ddo H, Hirst RA, Easton AJ, O'Callaghan C.

Am J Respir Crit Care Med. 2016 Aug 1;194(3):308-16. doi: 10.1164/rccm.201509-1833OC.


NADPH Oxidase-4 Overexpression Is Associated With Epithelial Ciliary Dysfunction in Neutrophilic Asthma.

Wan WY, Hollins F, Haste L, Woodman L, Hirst RA, Bolton S, Gomez E, Sutcliffe A, Desai D, Chachi L, Mistry V, Szyndralewiez C, Wardlaw A, Saunders R, O'Callaghan C, Andrew PW, Brightling CE.

Chest. 2016 Jun;149(6):1445-59. doi: 10.1016/j.chest.2016.01.024. Epub 2016 Feb 2.


KCa3.1 K+ Channel Expression and Function in Human Bronchial Epithelial Cells.

Arthur GK, Duffy SM, Roach KM, Hirst RA, Shikotra A, Gaillard EA, Bradding P.

PLoS One. 2015 Dec 21;10(12):e0145259. doi: 10.1371/journal.pone.0145259. eCollection 2015.


MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.

Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H.

Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418.


Respiratory syncytial virus increases the virulence of Streptococcus pneumoniae by binding to penicillin binding protein 1a. A new paradigm in respiratory infection.

Smith CM, Sandrini S, Datta S, Freestone P, Shafeeq S, Radhakrishnan P, Williams G, Glenn SM, Kuipers OP, Hirst RA, Easton AJ, Andrew PW, O'Callaghan C.

Am J Respir Crit Care Med. 2014 Jul 15;190(2):196-207. doi: 10.1164/rccm.201311-2110OC.



Smith CM, Hirst RA, O'Callaghan C.

Chest. 2014 Mar 1;145(3):669. doi: 10.1378/chest.14-0187. No abstract available.


Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid.

Hirst RA, Jackson CL, Coles JL, Williams G, Rutman A, Goggin PM, Adam EC, Page A, Evans HJ, Lackie PM, O'Callaghan C, Lucas JS.

PLoS One. 2014 Feb 25;9(2):e89675. doi: 10.1371/journal.pone.0089675. eCollection 2014.


In Replay: Ciliated Cultures From Patients With Primary Ciliary Dyskinesia Produce Nitric Oxide in Response to Haemophilus influenzae Infection and Proinflammatory Cytokines.

Smith CM, Hirst RA, O'Callaghan C.

Chest. 2014 Mar;145(3):669. doi: 10.1378/chest.14-0187. No abstract available.


Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM.

Hum Mol Genet. 2014 Jul 1;23(13):3362-74. doi: 10.1093/hmg/ddu046. Epub 2014 Feb 11.


RHPS4 G-quadruplex ligand induces anti-proliferative effects in brain tumor cells.

Lagah S, Tan IL, Radhakrishnan P, Hirst RA, Ward JH, O'Callaghan C, Smith SJ, Stevens MF, Grundy RG, Rahman R.

PLoS One. 2014 Jan 15;9(1):e86187. doi: 10.1371/journal.pone.0086187. eCollection 2014.


Ciliated cultures from patients with primary ciliary dyskinesia do not produce nitric oxide or inducible nitric oxide synthase during early infection.

Smith CM, Fadaee-Shohada MJ, Sawhney R, Baker N, Williams G, Hirst RA, Andrew PW, O'Callaghan C.

Chest. 2013 Nov;144(5):1671-1676. doi: 10.1378/chest.13-0159.


Ciliary dyskinesia is an early feature of respiratory syncytial virus infection.

Smith CM, Kulkarni H, Radhakrishnan P, Rutman A, Bankart MJ, Williams G, Hirst RA, Easton AJ, Andrew PW, O'Callaghan C.

Eur Respir J. 2014 Feb;43(2):485-96. doi: 10.1183/09031936.00205312. Epub 2013 Mar 21.


Elevated anandamide and related N-acylethanolamine levels occur in the peripheral blood of women with ectopic pregnancy and are mirrored by changes in peripheral fatty acid amide hydrolase activity.

Gebeh AK, Willets JM, Bari M, Hirst RA, Marczylo TH, Taylor AH, Maccarrone M, Konje JC.

J Clin Endocrinol Metab. 2013 Mar;98(3):1226-34. doi: 10.1210/jc.2012-3390. Epub 2013 Jan 31.


ciliaFA: a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software.

Smith CM, Djakow J, Free RC, Djakow P, Lonnen R, Williams G, Pohunek P, Hirst RA, Easton AJ, Andrew PW, O'Callaghan C.

Cilia. 2012 Aug 1;1:14. doi: 10.1186/2046-2530-1-14. eCollection 2012.


Measurement of [Ca²⁺]i in whole cell suspensions using Fura-2.

Patel A, Hirst RA, Harrison C, Hirota K, Lambert DG.

Methods Mol Biol. 2013;937:37-47.


Pseudomonas aeruginosa-catecholamine inotrope interactions: a contributory factor in the development of ventilator-associated pneumonia?

Freestone PP, Hirst RA, Sandrini SM, Sharaff F, Fry H, Hyman S, O'Callaghan C.

Chest. 2012 Nov;142(5):1200-1210. doi: 10.1378/chest.11-2614.


Persistent disruption of ciliated epithelium following paediatric lung transplantation.

Thomas B, Aurora P, Spencer H, Elliott M, Rutman A, Hirst RA, O'Callaghan C.

Eur Respir J. 2012 Nov;40(5):1245-52. doi: 10.1183/09031936.00174711. Epub 2012 Apr 20.


Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR.

Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. doi: 10.1038/ng.1106.


Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required.

O'Callaghan C, Rutman A, Williams GM, Hirst RA.

Eur Respir J. 2011 Sep;38(3):603-7. doi: 10.1183/09031936.00108410. Epub 2011 Mar 15.


Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

Lopes CA, Prosser SL, Romio L, Hirst RA, O'Callaghan C, Woolf AS, Fry AM.

J Cell Sci. 2011 Feb 15;124(Pt 4):600-12. doi: 10.1242/jcs.077156. Epub 2011 Jan 25.


Cooling of cilia allows functional analysis of the beat pattern for diagnostic testing.

Smith CM, Hirst RA, Bankart MJ, Jones DW, Easton AJ, Andrew PW, O'Callaghan C.

Chest. 2011 Jul;140(1):186-190. doi: 10.1378/chest.10-1920. Epub 2010 Dec 30.


Ciliary dysfunction and ultrastructural abnormalities are features of severe asthma.

Thomas B, Rutman A, Hirst RA, Haldar P, Wardlaw AJ, Bankart J, Brightling CE, O'Callaghan C.

J Allergy Clin Immunol. 2010 Oct;126(4):722-729.e2. doi: 10.1016/j.jaci.2010.05.046. Epub 2010 Jul 31.


Histone deacetylase inhibition attenuates cell growth with associated telomerase inhibition in high-grade childhood brain tumor cells.

Rahman R, Osteso-Ibanez T, Hirst RA, Levesley J, Kilday JP, Quinn S, Peet A, O'Callaghan C, Coyle B, Grundy RG.

Mol Cancer Ther. 2010 Sep;9(9):2568-81. doi: 10.1158/1535-7163.MCT-10-0272. Epub 2010 Jul 19.


Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia.

Hirst RA, Rutman A, Williams G, O'Callaghan C.

Chest. 2010 Dec;138(6):1441-7. doi: 10.1378/chest.10-0175. Epub 2010 Jul 8.


The behaviour of both Listeria monocytogenes and rat ciliated ependymal cells is altered during their co-culture.

Fadaee-Shohada MJ, Hirst RA, Rutman A, Roberts IS, O'Callaghan C, Andrew PW.

PLoS One. 2010 May 4;5(5):e10450. doi: 10.1371/journal.pone.0010450.


Role of Toll-like receptors 2 and 4 in pulmonary inflammation and injury induced by pneumolysin in mice.

Dessing MC, Hirst RA, de Vos AF, van der Poll T.

PLoS One. 2009 Nov 24;4(11):e7993. doi: 10.1371/journal.pone.0007993.


Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM.

Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5.


Hydrogen peroxide at a concentration used during neurosurgery disrupts ciliary function and causes extensive damage to the ciliated ependyma of the brain.

Hirst RA, Rutman A, O'Callaghan C.

Childs Nerv Syst. 2009 May;25(5):559-61. doi: 10.1007/s00381-008-0768-4. Epub 2008 Dec 24.


PACAP27 regulates ciliary function in primary cultures of rat brain ependymal cells.

Mönkkönen KS, Hirst RA, Laitinen JT, O'Callaghan C.

Neuropeptides. 2008 Oct-Dec;42(5-6):633-40. doi: 10.1016/j.npep.2008.09.006. Epub 2008 Nov 4. Erratum in: Neuropeptides. 2009 Apr;43(2):177. Mnkkonen, K S [corrected to Mönkkönen, K S].


The effect of viscous loading on brain ependymal cilia.

O'Callaghan CL, Sikand K, Rutman A, Hirst RA.

Neurosci Lett. 2008 Jul 4;439(1):56-60. doi: 10.1016/j.neulet.2008.04.095. Epub 2008 May 2.


Streptococcus pneumoniae deficient in pneumolysin or autolysin has reduced virulence in meningitis.

Hirst RA, Gosai B, Rutman A, Guerin CJ, Nicotera P, Andrew PW, O'Callaghan C.

J Infect Dis. 2008 Mar 1;197(5):744-51. doi: 10.1086/527322.


Intracerebroventricular antisense knockdown of G alpha i2 results in ciliary stasis and ventricular dilatation in the rat.

Mönkkönen KS, Hakumäki JM, Hirst RA, Miettinen RA, O'Callaghan C, Männistö PT, Laitinen JT.

BMC Neurosci. 2007 Apr 12;8:26.


Measurement of [Ca2+]i in whole cell suspensions using fura-2.

Hirst RA, Harrison C, Hirota K, Lambert DG.

Methods Mol Biol. 2006;312:37-45. No abstract available.


Measurement of [Ca²+]i in whole cell suspensions using fura-2.

Hirst RA, Harrison C, Hirota K, Lambert DG.

Methods Mol Biol. 2005;312:37-45. doi: 10.1385/1-59259-949-4:037.


Streptococcus pneumoniae-induced inhibition of rat ependymal cilia is attenuated by antipneumolysin antibody.

Hirst RA, Mohammed BJ, Mitchell TJ, Andrew PW, O'Callaghan C.

Infect Immun. 2004 Nov;72(11):6694-8.


The role of pneumolysin in pneumococcal pneumonia and meningitis.

Hirst RA, Kadioglu A, O'callaghan C, Andrew PW.

Clin Exp Immunol. 2004 Nov;138(2):195-201. Review.


Streptococcus pneumoniae damages the ciliated ependyma of the brain during meningitis.

Hirst RA, Gosai B, Rutman A, Andrew PW, O'Callaghan C.

Infect Immun. 2003 Oct;71(10):6095-100.

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