Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics

Autor: Amelia Shoemark, Mellisa Dixon

Publikováno v: Ultrastructural Pathology. 41:390-398

Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results of multiple investigations. These investigations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0d7a3ab3bdf71914f4ba88aa14ab77
https://doi.org/10.1080/01913123.2017.1365990

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

Autor: Hannah M. Mitchison, Jane S. Lucas, Simon N. Thomas, Sarah Ollosson, Reuben J. Pengelly, Mahmoud R. Fassad, Robert A. Hirst, Mellisa Dixon, Michael R. Loebinger, Alexandros Onoufriadis, Julene S. Carvalho, Eleni Pissaridou, Mitali P. Patel, Jane Hayward, Priti Kenia, Claire L. Jackson, Robert Wilson, Andrew V. Rogers, Thomas Cullup, Eddie M.K. Chung, Amelia Shoemark, Bruna Rubbo, Patricia Goggin, Andrew Rutman, Christopher O'Callaghan, Claire Hogg, Sunayna Best, Victoria L Doughty

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96c122fc5b551454f200e610b14fd2a

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

Autor: Siobhán B. Carr, Anne Aubusson-Fleury, Mellisa Dixon, Amelia Shoemark, Thomas Burgoyne, Jean-François Papon, Lucy Jenkins, Lucie Thomas, Claire Hogg, Robert A. Hirst, Estelle Escudier, Farheen Daudvohra, Hannah M. Mitchison, Bruno Louis, Andrew G. Nicholson, Mitali P. Patel, Pierrick le Borgne, Serge Amselem, Paul Aurora, Thomas Cullup, Michel Lemullois, Anne-Marie Tassin, Marie Legendre, Joseph Hayes, Mahmoud R. Fassad, Christopher O'Callaghan

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2018, 103 (6), pp.984--994. ⟨10.1016/j.ajhg.2018.10.016⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.984--994. ⟨10.1016/j.ajhg.2018.10.016⟩

International audience; Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial surfaces ensures that they are kept clear and protected from inhaled pathogens and consequent respiratory infections. Dynein motor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfa4277af9cbe1ee0855a58d345d0e1f
https://hal.science/hal-02178023

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

Autor: Amelia Shoemark, Woolf T. Walker, Bruna Rubbo, Hannah M. Mitchison, Eddie M.K. Chung, Stephen M. King, William Lamb, Andrew V. Rogers, Ramila S. Patel-King, Eduardo Moya, Thomas Cullup, Eamonn Sheridan, Beryl Adler, Andrew Bush, Mellisa Dixon, Juliet Scully, Lucy Jenkins, Christopher Boustred, Sarah Ollosson, Christopher O'Callaghan, Michael R. Loebinger, Evelyn A Robson, Jane S. Lucas, Robert A. Hirst, Claire L. Jackson, Miriam Schmidts, Jane Hayward, Hywel Williams, Mitali P. Patel, Andrew Rutman, Mahmoud R. Fassad, Christopher M. Watson, Claire Hogg, Robert Wilson, Siobhán B. Carr, Priti Kenia, Patricia Goggin

Publikováno v: Thorax, 73, 157-166
Thorax, 73, 2, pp. 157-166

RationalePrimary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of pri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23b3158e90fd024448b029fb6a64850f
http://hdl.handle.net/2066/183874

S69 Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia

Autor: Amelia Shoemark, Loebinger, Fassad, Mellisa Dixon, Claire Hogg, Hannah M. Mitchison, F Daudvohra, Thomas Burgoyne, Andrew V. Rogers

Publikováno v: New approaches to characterising paediatric respiratory diseases.

Introduction Primary ciliary dyskinesia (PCD) is a heterogeneous, recessive disease, characterised by dysfunction of motile cilia that arises from structural defects. Symptoms include chronic pulmonary disease, rhinosinusitis, otitis media, lateralit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d3175c44c044a17860a8c2a64bd0139f
https://doi.org/10.1136/thoraxjnl-2017-210983.75