[HTML][HTML] Genetic mechanisms of critical illness in COVID-19

…, K Rawlik, D Pasko, S Walker, N Parkinson… - Nature, 2021 - nature.com
Host-mediated lung inflammation is present 1 , and drives mortality 2 , in the critical illness
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …

Selective vulnerability of motor neurons and dissociation of pre-and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular …

…, LH Comley, D Thomson, N Parkinson… - Human molecular …, 2008 - academic.oup.com
Proximal spinal muscular atrophy (SMA) is a common autosomal recessive childhood form
of motor neuron disease. Previous studies have highlighted nerve- and muscle-specific …

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

…, S Blanchard, RS Coimbra, I Perfettini, N Parkinson… - Nature …, 2003 - nature.com
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural
analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler …

[HTML][HTML] Whole-genome sequencing reveals host factors underlying critical COVID-19

, … 137 Martinson Vicky 137 Parkinson Priyai 137 Stones … - Nature, 2022 - nature.com
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic
variation influences the development of illness requiring critical care 1 or hospitalization 2 , 3 – …

Functional annotation of human long noncoding RNAs via molecular phenotyping

…, M Mendez, JLC Ooi, JF Ouyang, N Parkinson… - Genome …, 2020 - genome.cshlp.org
Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian
genomes, and yet, their functions remain largely unknown. As part of the FANTOM6 project, we …

A gene-driven approach to the identification of ENU mutants in the mouse

EL Coghill, A Hugill, N Parkinson, C Davison… - Nature …, 2002 - nature.com
The construction of parallel archives of DNA and sperm from mice mutagenized with
ethylnitrosurea (ENU) represents a potentially powerful and rapid approach for identifying point …

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

…, C O'Malley, M Farmer, N Parkinson… - Brain, 2012 - academic.oup.com
Mutations in the charged multivesicular body protein 2B (CHMP2B) gene cause frontotemporal
lobar degeneration. The mutations lead to C-terminal truncation of the CHMP2B protein. …

A gene-driven ENU-based approach to generating an allelic series in any gene

…, A Roberts, P Glenister, Z Lalanne, N Parkinson… - Mammalian …, 2004 - Springer
N-ethyl-N-nitrosourea (ENU) introduces mutations throughout the mouse genome at relatively
high efficiency. Successful high-throughput phenotype screens have been reported and …

[HTML][HTML] The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice

M Bortolozzi, M Brini, N Parkinson, G Crispino… - Journal of biological …, 2010 - ASBMB
The mechanotransduction process in hair cells in the inner ear is associated with the influx
of calcium from the endolymph. Calcium is exported back to the endolymph via the splice …

Whole genome sequencing identifies multiple loci for critical illness caused by COVID-19

…, B Wang, D Rhodes, L Klaric, M Zechner, N Parkinson… - medRxiv, 2021 - medrxiv.org
Critical illness in COVID-19 is caused by inflammatory lung injury, mediated by the host
immune system. We and others have shown that host genetic variation influences the …