Ciliary dysfunction and ultrastructural abnormalities are features of severe asthma
Thomas, Biju, MD, Rutman, Andrew, CBiol, Hirst, Robert A., PhD, Haldar, Pranab, MD, Wardlaw, Andrew J., PhD, Bankart, John, PhD, Brightling, Christopher E., PhD, O'Callaghan, Christopher, PhD
Published in Journal of allergy and clinical immunology (01.10.2010)
Published in Journal of allergy and clinical immunology (01.10.2010)
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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman, Andrew, Thompson, James, Jenkins, Lucy, Aurora, Paul, Moya, Eduardo, Chetcuti, Philip, O'Callaghan, Chris, Morris-Rosendahl, Deborah J, Watson, Christopher M., Wilson, Robert, Carr, Siobhan, Walker, Woolf, Pitno, Andreia, Lopes, Susana, Morsy, Heba, Shoman, Walaa, Pereira, Luisa, Constant, Carolina, Loebinger, Michael R., Chung, Eddie M.K., Kenia, Priti, Rumman, Nisreen, Fasseeh, Nader, Lucas, Jane S., Hogg, Claire, Mitchison, Hannah M.
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
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Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia
Hirst, Robert A, Rutman, Andrew, Williams, Gwyneth, O'Callaghan, Chris
Published in Chest (01.12.2010)
Published in Chest (01.12.2010)
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Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid
Hirst, Robert A, Jackson, Claire L, Coles, Janice L, Williams, Gwyneth, Rutman, Andrew, Goggin, Patricia M, Adam, Elizabeth C, Page, Anthony, Evans, Hazel J, Lackie, Peter M, O'Callaghan, Christopher, Lucas, Jane S
Published in PloS one (25.02.2014)
Published in PloS one (25.02.2014)
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Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
Lee, Dani Do Hyang, Cardinale, Daniela, Nigro, Ersilia, Butler, Colin R, Rutman, Andrew, Fassad, Mahmoud R, Hirst, Robert A, Moulding, Dale, Agrotis, Alexander, Forsythe, Elisabeth, Peckham, Daniel, Robson, Evie, Smith, Claire M, Somavarapu, Satyanarayana, Beales, Philip L, Hart, Stephen L, Janes, Sam M, Mitchison, Hannah M, Ketteler, Robin, Hynds, Robert E, O'Callaghan, Christopher
Published in The European respiratory journal (01.10.2021)
Published in The European respiratory journal (01.10.2021)
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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, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A, Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L, Hogg, Claire, Yang, Pinfen, Chung, Eddie M K, Emes, Richard D, O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M
Published in Human molecular genetics (01.07.2014)
Published in Human molecular genetics (01.07.2014)
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The effect of viscous loading on brain ependymal cilia
O’Callaghan, Christopher Liam, Sikand, Kulvinder, Rutman, Andrew, Hirst, Robert Anthony
Published in Neuroscience letters (04.07.2008)
Published in Neuroscience letters (04.07.2008)
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Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation
Robson, Evie Alexandra, Dixon, Luke, Causon, Liam, Dawes, William, Benenati, Massimo, Fassad, Mahmoud, Hirst, Robert Anthony, Kenia, Priti, Moya, Eduardo Fernandez, Patel, Mitali, Peckham, Daniel, Rutman, Andrew, Mitchison, Hannah M., Mankad, Kshitij, O'Callaghan, Christopher
Published in Neurology. Genetics (01.08.2020)
Published in Neurology. Genetics (01.08.2020)
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Sensitivities of Human Monocytes and Epithelial Cells to Pneumolysin Are Different
HIRST, Robert A, YESILKAYA, Hasan, CLITHEROE, Edwin, RUTMAN, Andrew, DUFTY, Nichola, MITCHELL, Timothy J, O'CALLAGHAN, Christopher, ANDREW, Peter W
Published in Infection and Immunity (01.02.2002)
Published in Infection and Immunity (01.02.2002)
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Streptococcus pneumoniae Damages the Ciliated Ependyma of the Brain during Meningitis
HIRST, Robert A, GOSAI, Bejal, RUTMAN, Andrew, ANDREW, Peter W, O'CALLAGHAN, Christopher
Published in Infection and Immunity (01.10.2003)
Published in Infection and Immunity (01.10.2003)
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
Boon, Mieke, Wallmeier, Julia, Ma, Lina, Loges, Niki Tomas, Jaspers, Martine, Olbrich, Heike, Dougherty, Gerard W, Raidt, Johanna, Werner, Claudius, Amirav, Israel, Hevroni, Avigdor, Abitbul, Revital, Avital, Avraham, Soferman, Ruth, Wessels, Marja, O'Callaghan, Christopher, Chung, Eddie M K, Rutman, Andrew, Hirst, Robert A, Moya, Eduardo, Mitchison, Hannah M, Van Daele, Sabine, De Boeck, Kris, Jorissen, Mark, Kintner, Chris, Cuppens, Harry, Omran, Heymut
Published in Nature communications (22.07.2014)
Published in Nature communications (22.07.2014)
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Effects of human neutrophil elastase and Pseudomonas aeruginosa proteinases on human respiratory epithelium
Amitani, R, Wilson, R, Rutman, A, Read, R, Ward, C, Burnett, D, Stockley, R A, Cole, P J
Published in American journal of respiratory cell and molecular biology (01.01.1991)
Published in American journal of respiratory cell and molecular biology (01.01.1991)
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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Best, Sunayna, Shoemark, Amelia, Rubbo, Bruna, Patel, Mitali P, Fassad, Mahmoud R, Dixon, Mellisa, Rogers, Andrew V, Hirst, Robert A, Rutman, Andrew, Ollosson, Sarah, Jackson, Claire L, Goggin, Patricia, Thomas, Simon, Pengelly, Reuben, Cullup, Thomas, Pissaridou, Eleni, Hayward, Jane, Onoufriadis, Alexandros, O’Callaghan, Christopher, Loebinger, Michael R, Wilson, Robert, Chung, Eddie MK, Kenia, Priti, Doughty, Victoria L, Carvalho, Julene S, Lucas, Jane S, Mitchison, Hannah M, Hogg, Claire
Published in Thorax (01.02.2019)
Published in Thorax (01.02.2019)
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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
Shoemark, Amelia, Moya, Eduardo, Hirst, Robert A, Patel, Mitali P, Robson, Evelyn A, Hayward, Jane, Scully, Juliet, Fassad, Mahmoud R, Lamb, William, Schmidts, Miriam, Dixon, Mellisa, Patel-King, Ramila S, Rogers, Andrew V, Rutman, Andrew, Jackson, Claire L, Goggin, Patricia, Rubbo, Bruna, Ollosson, Sarah, Carr, Siobhán, Walker, Woolf, Adler, Beryl, Loebinger, Michael R, Wilson, Robert, Bush, Andrew, Williams, Hywel, Boustred, Christopher, Jenkins, Lucy, Sheridan, Eamonn, Chung, Eddie M K, Watson, Christopher M, Cullup, Thomas, Lucas, Jane S, Kenia, Priti, O’Callaghan, Christopher, King, Stephen M, Hogg, Claire, Mitchison, Hannah M
Published in Thorax (01.02.2018)
Published in Thorax (01.02.2018)
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