1 to 10 of 21 literature results

• Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

  Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutatio…

  Authors: Mark I Rees, Kirsten Harvey, Brian R Pearce, Seo-Kyung Chung, Ian C Duguid, Philip Thomas, Sarah Beatty, Gail E Graham, Linlea Armstrong, Rita Shiang,…

  Source: Nature genetics. 2006 Jul

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• Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone.

  Transcription factors (TFs) are responsible for the specification and fate determination of cells as they develop from progenitor cells into specific …

  Authors: Kristin Baer, Peter S Eriksson, Richard L M Faull, Mark I Rees, Maurice A Curtis

  Source: Experimental neurology. 2007 Apr

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• Misdiagnosis of long QT syndrome as epilepsy at first presentation.

  STUDY OBJECTIVE: Long QT syndrome has significant mortality, which is reduced with appropriate management. It is known that long QT syndrome masquerad…

  Authors: Judith M MacCormick, Hugh McAlister, Jackie Crawford, John K French, Ian Crozier, Andrew N Shelling, Carey-Anne Eddy, Mark I Rees, Jonathan R Skinner

  Source: Annals of emergency medicine. 2009 Jul

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• Not All hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

  INTRODUCTION: Mutations in the pore domain of the human ether-a-go-go-related gene (hERG) potassium channel are associated with higher risk of sudden …

  Authors: Jing Ting Zhao, Adam P Hill, Anthony Varghese, Antony A Cooper, Heikki Swan, Päivi J Laitinen-Forsblom, Mark I Rees, Jonathan R Skinner, Terence J Campbell, Jamie I Vandenberg

  Source: Journal of cardiovascular electrophysiology. 2009 Aug

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• QT interval prolongation associated with sibutramine treatment.

  AIMS: To investigate a possible association of sibutramine with QT interval prolongation. METHODS: Post-marketing surveillance using prescription even…

  Authors: Mira Harrison-Woolrych, David W J Clark, Geraldine R Hill, Mark I Rees, Jonathan R Skinner

  Source: British journal of clinical pharmacology. 2006 Apr

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• Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

  Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the alpha1-s…

  Authors: Mark I Rees, Trevor M Lewis, John B J Kwok, Geert R Mortier, Paul Govaert, Russell G Snell, Peter R Schofield, Michael J Owen

  Source: Human molecular genetics. 2002 Apr 1

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• The conundrum of complexity in epilepsy.

  Authors: Mark I Rees

  Source: Lancet neurology. 2007 Nov

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• Molecular investigation of TBP allele length: a SCA17 cellular model and population study.

  Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box…

  Authors: Suzanne J Reid, Mark I Rees, Willeke M C van Roon-Mom, A Lesley Jones, Marcy E MacDonald, Greg Sutherland, Matthew J During, Richard L M Faull, Michael J Owen, Mike Dragunow,…

  Source: Neurobiology of disease. 2003 Jun

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• Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical review.

  Inhibitory neurotransmitter receptors for glycine (GlyR) are heteropentameric chloride ion channels that are comprised of four functional subunits, al…

  Authors: Kristin Baer, Henry J Waldvogel, Richard L M Faull, Mark I Rees

  Source: Frontiers in molecular neuroscience. 2009

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• The genetics of hyperekplexia: more than startle

  Hyperekplexia is characterised by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis o…

  Authors: Robert J Harvey, Maya Topf, Kirsten Harvey, Mark I Rees

  Source: Trends in genetics : TIG. 2008 Sep

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