Search Results - "Davies, Jennifer R"
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Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function
Published in Human molecular genetics (01-06-2007)“…OPA1 is a ubiquitously expressed, nuclear dynamin-related GTPase, targeted to the inner mitochondrial membrane, which plays a role in mitochondrial fusion…”
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Correction: Davies et al. Impact of Refinements to Handling and Restraint Methods in Mice. Animals 2022, 12 , 2173
Published in Animals (Basel) (12-07-2023)“…In the original publication [...]…”
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Comparison of mouse models reveals a molecular distinction between psychotic illness in PWS and schizophrenia
Published in Translational psychiatry (20-08-2021)“…Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by mutations affecting paternal chromosome 15q11-q13, and characterized by hypotonia,…”
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Impact of Refinements to Handling and Restraint Methods in Mice
Published in Animals (Basel) (24-08-2022)“…There is increasing evidence that, compared to non-aversive handling methods (i.e., tunnel and cupping), tail handling has a negative impact on mouse welfare…”
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Prader-Willi syndrome imprinting centre deletion mice have impaired baseline and 5-HT2CR-mediated response inhibition
Published in Human molecular genetics (15-09-2019)“…Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by deletion or inactivation of paternally expressed imprinted genes on human chromosome…”
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A behavioral task for investigating action discovery, selection and switching: comparison between types of reinforcer
Published in Frontiers in behavioral neuroscience (18-11-2014)“…Action discovery and selection are critical cognitive processes that are understudied at the cellular and systems neuroscience levels. Presented here is a new…”
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Calorie seeking, but not hedonic response, contributes to hyperphagia in a mouse model for Prader-Willi syndrome
Published in The European journal of neuroscience (01-08-2015)“…Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by deletion or inactivation of paternally expressed imprinted genes on human chromosome…”
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Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite
Published in Molecular brain (08-12-2016)“…Alternate splicing of serotonin (5-hydroxytryptamine; 5-HT) 2C receptor (5-HT.sub.2CR) pre-RNA is negatively regulated by the small nucleolar RNA, Snord115,…”
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Paradoxical leanness in the imprinting-centre deletion mouse model for Prader–Willi syndrome
Published in Journal of endocrinology (01-01-2017)“…Prader–Willi syndrome (PWS), a neurodevelopmental disorder caused by loss of paternal gene expression from 15q11–q13, is characterised by growth retardation,…”
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Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity
Published in Human molecular genetics (15-06-2016)“…Mitochondrial dysfunction connects metabolic disturbance with numerous pathologies, but the significance of mitochondrial activity in bone remains unclear. We…”
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Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III
Published in Investigative ophthalmology & visual science (21-06-2011)“…To investigate the developmental and ocular expression of Opa3 in a mouse model of 3-methylglutaconicaciduria type III and the effect of mutation on protein…”
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Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome
Published in Human molecular genetics (15-11-2012)“…The interrelationship between brown adipose tissue (BAT) and white adipose tissue (WAT) is emerging as an important factor in obesity, but the effect of…”
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Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
Published in Neurogenetics (01-01-2015)“…Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited optic neuropathies. The latter has been associated…”
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Behavioural effects of imprinted genes
Published in Current opinion in behavioral sciences (01-04-2015)“…•Imprinted genes can influence behaviour via a number of mechanisms.•Direct effects are illustrated by SNORD115 and MAGEL2, key genes underlying PWS.•Imprinted…”
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A missense mutation in the murine Opa3 gene models human Costeff syndrome
Published in Brain (London, England : 1878) (01-02-2008)“…Opa3 mRNA is expressed in all tissues examined to date, but currently the function of the OPA3 protein is unknown. Intriguingly, various mutations in the OPA3…”
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Correction: Davies et al. Impact of Refinements to Handling and Restraint Methods in Mice. IAnimals/I 2022, I12/I, 2173
Published in Animals (Basel) (01-07-2023)Get full text
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Genetic, physical, and phenotypic characterization of the Del(13)Svea36H mouse
Published in Mammalian genome (01-09-2001)“…The Del(13)Svea36H deletion was recovered from a radiation mutagenesis experiment and represents a valuable resource for investigating gene content and…”
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Disrupted mitochondrial function in the Opa3 L122P mouse model for Costeff Syndrome impairs skeletal integrity
Published in Human molecular genetics (22-04-2016)Get full text
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Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT 2C receptor mediated appetite
Published in Molecular brain (08-12-2016)“…Alternate splicing of serotonin (5-hydroxytryptamine; 5-HT) 2C receptor (5-HT R) pre-RNA is negatively regulated by the small nucleolar RNA, Snord115, loss of…”
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A missense mutation in the murine Opa3 gene models human Costeff syndrome. Commentary
Published in Brain (London, England : 1878) (2008)Get full text
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