User profiles for "author:A Shoemark"

Amelia Shoemark

Asthma and Lung UK/GSK Chair of Respiratory Research, University of Dundee and Royal …
Verified email at rbht.nhs.uk
Cited by 6879

Primary ciliary dyskinesia in the genomics age

…, SD Davis, H Omran, A Shoemark - The Lancet Respiratory …, 2020 - thelancet.com
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …

[HTML][HTML] Sperm defects in primary ciliary dyskinesia and related causes of male infertility

A Sironen, A Shoemark, M Patel, MR Loebinger… - Cellular and Molecular …, 2020 - Springer
The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

A Shoemark, M Dixon, B Corrin, A Dewar - Journal of clinical pathology, 2012 - jcp.bmj.com
Background The examination of ciliary ultrastructure in a nasal sample remains a definitive
diagnostic test for primary ciliary dyskinesia (PCD). Methods The quantitative assessment of …

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

…, F Santamaria, A Shoemark… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …

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

…, RJ Herrera, A Rutman, M Dixon, A Shoemark… - The American Journal of …, 2009 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising
from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural …

[HTML][HTML] Aetiology in adult patients with bronchiectasis

A Shoemark, L Ozerovitch, R Wilson - Respiratory medicine, 2007 - Elsevier
BACKGROUND: Bronchiectasis has a number of causes. Their prevalence is not well
documented. The aim of this study was to identify aetiology in a population of patients …

[PDF][PDF] Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

…, NT Loges, J Raidt, NF Banki, A Shoemark… - The American Journal of …, 2012 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder
characterized by defective cilia and flagella motility. Chronic destructive-airway disease is …

[HTML][HTML] Impaired innate interferon induction in severe therapy resistant atopic asthmatic children

…, M Vareille, E Kieninger, A Gupta, A Shoemark… - Mucosal …, 2013 - nature.com
Deficient type I interferon-β and type III interferon-λ induction by rhinoviruses has previously
been reported in mild/moderate atopic asthmatic adults. No studies have yet investigated if …

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

…, RD Emes, EMK Chung, A Shoemark… - Human …, 2013 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia
and sperm dysmotility. About 12% of cases show perturbed 9+ 2 microtubule cilia structure …

[PDF][PDF] Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

A Onoufriadis, T Paff, D Antony, A Shoemark… - The American Journal of …, 2013 - cell.com
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD),
characterized by chronic airway disease, infertility, and left-right laterality disturbances …