Search Results - "Pearson, Selina"
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Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Published in PLoS biology (11-04-2019)“…Adult-onset hearing loss is very common, but we know little about the underlying molecular pathogenesis impeding the development of therapies. We took a…”
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Ecto‐5′‐nucleotidase (CD73) regulates peripheral chemoreceptor activity and cardiorespiratory responses to hypoxia
Published in The Journal of physiology (01-08-2018)“…Key points Carotid body dysfunction is recognized as a cause of hypertension in a number of cardiorespiratory diseases states and has therefore been identified…”
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3
AMP-activated Protein Kinase Mediates Carotid Body Excitation by Hypoxia
Published in The Journal of biological chemistry (16-03-2007)“…Early detection of an O2 deficit in the bloodstream is essential to initiate corrective changes in the breathing pattern of mammals. Carotid bodies serve an…”
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Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme
Published in BMC biology (17-03-2022)“…Mice carrying targeted mutations are important for investigating gene function and the role of genes in disease, but off-target mutagenic effects associated…”
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5
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
Published in Proceedings of the National Academy of Sciences - PNAS (31-10-2017)“…The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes…”
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Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene
Published in PloS one (18-03-2014)“…Homozygosity for Slc25a21(tm1a(KOMP)Wtsi) results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment…”
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Auditory function in the Tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media
Published in PloS one (14-02-2012)“…Down syndrome is one of the most common congenital disorders leading to a wide range of health problems in humans, including frequent otitis media. The Tc1…”
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Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects
Published in PloS one (30-11-2012)“…Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new spontaneous alleles of the Lmx1a gene in mice. Homozygous mutants show head tossing and…”
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Peptidergic Activation of Locomotor Pattern Generators in the Neonatal Spinal Cord
Published in The Journal of neuroscience (05-11-2003)“…The development of motor networks in the spinal cord is partly activity-dependent. We have observed receptor-mediated excitatory effects of two peptides,…”
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10
Key roles for AMP-activated protein kinase in the function of the carotid body?
Published in Advances in experimental medicine and biology (2008)“…The carotid bodies play a critical role in initiating compensatory ventilatory responses to hypoxia. However, the complete mechanism by which hypoxia excites…”
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Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes
Published in Cell (18-07-2013)“…Mutations in whole organisms are powerful ways of interrogating gene function in a realistic context. We describe a program, the Sanger Institute Mouse…”
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Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome
Published in Nature communications (27-04-2018)“…Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease…”
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S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse
Published in Scientific reports (07-07-2016)“…Progressive hearing loss is very common in the population but we still know little about the underlying pathology. A new spontaneous mouse mutation (stonedeaf,…”
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Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice
Published in Genome biology (21-09-2011)“…Inflammation of the middle ear (otitis media) is very common and can lead to serious complications if not resolved. Genetic studies suggest an inherited…”
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15
A gene expression resource generated by genome-wide lacZ profiling in the mouse
Published in Disease models & mechanisms (01-11-2015)“…Knowledge of the expression profile of a gene is a critical piece of information required to build an understanding of the normal and essential functions of…”
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A role for TRP channels in carotid body chemotransduction?
Published in The FASEB journal (01-03-2006)“…The hypoxia‐induced inhibition of type I cell, K channels leads to membrane potential depolarization and subsequent calcium entry and neurosecretion. Whilst…”
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Targeting of Slc25a21 Is Associated with Orofacial Defects and Otitis Media Due to Disrupted Expression of a Neighbouring Gene: e91807
Published in PloS one (01-03-2014)“…Homozygosity for Slc25a21tm1a(KOMP)Wtsi results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment and…”
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Journal Article -
18
Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice
Published in Genome biology (21-09-2011)“…Abstract Background Inflammation of the middle ear (otitis media) is very common and can lead to serious complications if not resolved. Genetic studies suggest…”
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