User profiles for Hannah M. Mitchison

Hannah Mitchison

University College London
Verified email at ucl.ac.uk
Cited by 14016

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

…, M Zariwala, PG Noone, M Knowles, HM Mitchison… - Nature …, 2002 - nature.com
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the
respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the …

Motile and non‐motile cilia in human pathology: from function to phenotypes

HM Mitchison, EM Valente - The Journal of pathology, 2017 - Wiley Online Library
Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Primary ciliary dyskinesia: current state of the art

…, M Hariri, C Hogg, J Lucas, HM Mitchison… - Archives of disease in …, 2007 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and
presents with upper and lower respiratory tract infection, and mirror image arrangement in …

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

…, M Armengot, M Meeks, HM Mitchison… - Proceedings of the …, 2002 - National Acad Sciences
Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary
dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis …

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

…, S Purton, EMK Chung, HM Mitchison - 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 …

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

HM Mitchison, M Schmidts, NT Loges, J Freshour… - Nature …, 2012 - nature.com
Primary ciliary dyskinesia most often arises from loss of the dynein motors that power ciliary
beating. Here we show that DNAAF3 (also known as PF22), a previously uncharacterized …

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

…, JK Marthin, KG Nielsen, HM Mitchison… - 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 caused by …

[PDF][PDF] DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

…, J Neesen, R Reinhardt, HM Mitchison… - The American Journal of …, 2008 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by
chronic destructive airway disease and randomization of left/right body asymmetry. Males …

DYX1C1 is required for axonemal dynein assembly and ciliary motility

…, R Roepman, MA Zariwala, CW Lo, HM Mitchison… - Nature …, 2013 - nature.com
DYX1C1 has been associated with dyslexia and neuronal migration in the developing
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …

Diagnosis and management of primary ciliary dyskinesia

…, HM Mitchison, E Moya, M Williamson… - Archives of disease in …, 2014 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia
characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility. …