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Mark Rees

Research Profile

Chemicals & Drugs

Physiology

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Publications

TOP 3
Victoria M James; Angelo Keramidas; Joseph W Lynch; Maartje Nielsen; Mark I Rees; Rhys H Thomas; Maya Topf; Mihailo Vujic; Anna Bode; Seo-Kyung Chung; Frances M Cowan; Jennifer L Gill; Ieke Ginjaar; Kirsten Harvey; Robert J Harvey
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
Seo-Kyung Chung; Thomas D Cushion; Cheney J G Drew; Robert J Harvey; Owain W Howell; Charlotte Hunt; Steffen Leiz; Lokesh Lingappa; Ann-Carolyn Longhardt; Joseph W Lynch; Amira Masri; Jonathan G L Mullins; Michael Parker; William O Pickrell; Ratna D Puri; Vera Raile; Didi D Ratnasinghe; Chris Rittey; Rita Shiang; Rhys H Thomas; Jean-François Vanbellinghen; Ishwar C Verma; Bernhard Weschke; Sian-Elin Wood; Sumimasa Yamashita; Anna Bode; Mark I Rees
GLRB is the third major gene of effect in hyperekplexia.
Rhys H Thomas; Mark I Rees; Seo-Kyung Chung; Khalid Hamandi; Michael P Kerr
Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

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All Publications

2013: Victoria M James; Angelo Keramidas; Joseph W Lynch; Maartje Nielsen; Mark I Rees; Rhys H Thomas; Maya Topf; Mihailo Vujic; Anna Bode; Seo-Kyung Chung; Frances M Cowan; Jennifer L Gill; Ieke Ginjaar; Kirsten Harvey; Robert J Harvey
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
Neurobiology of disease 2013;52():137-49.
2013: Seo-Kyung Chung; Thomas D Cushion; Cheney J G Drew; Robert J Harvey; Owain W Howell; Charlotte Hunt; Steffen Leiz; Lokesh Lingappa; Ann-Carolyn Longhardt; Joseph W Lynch; Amira Masri; Jonathan G L Mullins; Michael Parker; William O Pickrell; Ratna D Puri; Vera Raile; Didi D Ratnasinghe; Chris Rittey; Rita Shiang; Rhys H Thomas; Jean-François Vanbellinghen; Ishwar C Verma; Bernhard Weschke; Sian-Elin Wood; Sumimasa Yamashita; Anna Bode; Mark I Rees
GLRB is the third major gene of effect in hyperekplexia.
Human molecular genetics 2013;22(5):927-40.
2013: Rhys H Thomas; Mark I Rees; Seo-Kyung Chung; Khalid Hamandi; Michael P Kerr
Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.
Epilepsy & behavior : E&B 2013;26(3):241-6.
2013: Thomas D Cushion; William B Dobyns; Andrew E Fry; Roxana Gunny; Ute Hehr; Jonathan G L Mullins; Prab Prabhakar; Julia Rankin; Mark I Rees; Neil Stoodley; Gökhan Uyanik; Arthur S Aylsworth; Seo-Kyung Chung; Daniela T Pilz
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain : a journal of neurology 2013;136(Pt 2):536-48.
2013: Amy L Beynon; M Rowan Brown; Mark I Rees; I Martin Sheldon; Rhiannon Wright; Jeffrey S Davies
Ghrelin inhibits LPS-induced release of IL-6 from mouse dopaminergic neurones.
Journal of neuroinflammation 2013;10():40.
2012: Cecilio Giménez; Robert J Harvey; Ignacio Ibáñez; Victoria M James; Esperanza Jiménez; Pablo Lapunzina; Carmen Aragón; Esther Arribas-González; Seo-Kyung Chung; Jaime de Juan-Sanz; Lourdes R Desviat; Enrique Fernández-Sánchez; Noemí García-Tardón; Jaime Martínez-Villarreal; Julián Nevado; Enrique Núñez; Gonzalo Pérez-Siles; Mark I Rees; Valeria Romanelli; Rhys H Thomas; Maya Topf; Francisco Zafra; Beatriz López-Corcuera
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
The Journal of biological chemistry 2012;287(34):28986-9002.
2012: Eloisa Carta; Seo-Kyung Chung; Frances M Cowan; Mireria Del Toro; Cheney J G Drew; Jennifer L Gill; Gail E Graham; Kirsten Harvey; Sophie Cagdas; Duncan Cameron; Victoria M James; Adnan Y Manzur; Amira Masri; Brian R Pearce; Mark I Rees; Nathalie Remy; Serge Rivera; Angela Robinson; Emmanuel Scalais; Rita Shiang; Kate Sinclair; Catriona A Stuart; stéphane supplisson; Rhys H Thomas; Marina A J Tijssen; Maya Topf; Jean-François Vanbellinghen; Grahame Wise; Sameer M Zuberi; Robert J Harvey
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
The Journal of biological chemistry 2012;287(34):28975-85.
2012: R H Thomas; C White; P E Smith; S Bagguley; C L Hammond; J A Johnston; Mark I Rees
Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes.
Journal of neurology, neurosurgery, and psychiatry 2012;83(3):336-8.
2012: Mark I Rees
Next-generation sequencing. Preface.
Advances in protein chemistry and structural biology 2012;89():vii-ix.
2012: William O Pickrell; Mark I Rees; Seo-Kyung Chung
Next generation sequencing methodologies--an overview.
Advances in protein chemistry and structural biology 2012;89():1-26.
2011: Judith M MacCormick; Hugh McAlister; Mark I Rees; Andrew N Shelling; Seo-Kyung Chung; Jackie R Crawford; Ian G Crozier; Cary-Anne Evans; Warren M Smith; Jonathan R Skinner
Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias.
Heart, lung & circulation 2011;20(9):593-8.
2011: Jennifer L Gill; Deborah Capper; Jean-François Vanbellinghen; Seo-Kyung Chung; Robert J Higgins; Mark I Rees; G Diane Shelton; Robert J Harvey
Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.
Neurobiology of disease 2011;43(1):184-9.
2011: Kathryn S Rice; Graeme Dickson; Mark Lane; Jackie Crawford; Seo-Kyung Chung; Mark I Rees; Andrew N Shelling; Donald R Love; Jonathan R Skinner
Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?
Heart rhythm : the official journal of the Heart Rhythm Society 2011;8(4):551-4.
2010: Mark I Rees
The genetics of epilepsy--the past, the present and future.
Seizure : the journal of the British Epilepsy Association 2010;19(10):680-3.
2010: R H Thomas; C L Hammond; O G Bodger; Mark I Rees; P E M Smith
Identifying and prioritising epilepsy treatment uncertainties.
Journal of neurology, neurosurgery, and psychiatry 2010;81(8):918-21.
2010: Seo-Kyung Chung; Jean-François Vanbellinghen; Jonathan G L Mullins; Angela Robinson; Janina Hantke; Carrie L Hammond; Daniel F Gilbert; Michael Freilinger; Monique Ryan; Michael C Kruer; Amira Masri; Candan Gurses; Colin Ferrie; Kirsten Harvey; Rita Shiang; John Christodoulou; Frederick Andermann; Eva Andermann; Rhys H Thomas; Robert J Harvey; Joseph W Lynch; Mark I Rees
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(28):9612-20.
2010: Jessie C Jacobsen; C Simon Bawden; Skye R Rudiger; Clive J McLaughlan; Suzanne J Reid; Henry J Waldvogel; Marcy E MacDonald; James Gusella; Simon K Walker; Jennifer M Kelly; Graham C Webb; Richard L M Faull; Mark I Rees; Russell G Snell
An ovine transgenic Huntington's disease model.
Human molecular genetics 2010;19(10):1873-82.
2010: Henry J Waldvogel; Kristin Baer; E Eady; K L Allen; R T Gilbert; Hanns Mohler; Mark I Rees; L F B Nicholson; Richard L M Faull
Differential localization of gamma-aminobutyric acid type A and glycine receptor subunits and gephyrin in the human pons, medulla oblongata and uppermost cervical segment of the spinal cord: an immunohistochemical study.
The Journal of comparative neurology 2010;518(3):305-28.
2010: Jeff S Davies; Seo-Kyung Chung; Rhys H Thomas; Angela Robinson; Carrie L Hammond; Jonathan G L Mullins; Eloisa Carta; Brian R Pearce; Kirsten Harvey; Robert J Harvey; Mark I Rees
The glycinergic system in human startle disease: a genetic screening approach.
Frontiers in molecular neuroscience 2010;3():8.
2009: Judith M MacCormick; Hugh McAlister; Jackie Crawford; John K French; Ian Crozier; Andrew N Shelling; Carey-Anne Eddy; Mark I Rees; Jonathan R Skinner
Misdiagnosis of long QT syndrome as epilepsy at first presentation.
Annals of emergency medicine 2009;54(1):26-32.
2009: Kristin Baer; Henry J Waldvogel; Richard L M Faull; Mark I Rees
Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical review.
Frontiers in molecular neuroscience 2009;2():25.
2008: Robert Justin Harvey; Maya Topf; Kirsten Harvey; Mark I Rees
The genetics of hyperekplexia: more than startle!
Trends in genetics : TIG 2008;24(9):439-47.
2008: Henry J Waldvogel; Kristin Baer; W-P Gai; R T Gilbert; Mark I Rees; Hanns Mohler; Richard L M Faull
Differential localization of GABAA receptor subunits within the substantia nigra of the human brain: an immunohistochemical study.
The Journal of comparative neurology 2008;506(6):912-29.
2008: Robert Justin Harvey; Eloisa Carta; Brian R Pearce; Seo-Kyung Chung; Stéphane Supplisson; Mark I Rees; Kirsten Harvey
A critical role for glycine transporters in hyperexcitability disorders.
Frontiers in molecular neuroscience 2008;1():1.
2007: Jonathan R Skinner; Tao Yang; Dianne Purvis; Seo-Kyung Chung; Dan Mark Roden; Mark I Rees
Coinheritance of long QT syndrome and Kearns-Sayre syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2007;4(12):1568-72.
2007: Seo-Kyung Chung; Judith M MacCormick; Caroline H McCulley; Jackie Crawford; Carey-Anne Eddy; Edwin Mitchell; Andrew N Shelling; John K French; Jonathan R Skinner; Mark I Rees
Long QT and Brugada syndrome gene mutations in New Zealand.
Heart rhythm : the official journal of the Heart Rhythm Society 2007;4(10):1306-14.
2007: Henry J Waldvogel; Kristin Baer; Kathryn L Allen; Mark I Rees; Richard L M Faull
Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study.
The Journal of comparative neurology 2007;502(6):1012-29.
2007: Kristin Baer; Thomas Bürli; Kyung-Hye Huh; Andreas Wiesner; Susanne Erb-Vögtli; Dubravka Göckeritz-Dujmovic; Martijn Moransard; Atsushi Nishimune; Mark I Rees; Jeremy M Henley; Jean-Marc Fritschy; Christian Fuhrer
PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clustering.
Molecular and cellular neurosciences 2007;35(2):339-55.
2007: Kristin Baer; Peter S Eriksson; Richard L M Faull; Mark I Rees; Maurice A Curtis
Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone.
Experimental neurology 2007;204(2):828-31.
2006: 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; Kim J Abbott; Sameer M Zuberi; John B P Stephenson; Michael J Owen; Marina A J Tijssen; Arn van den Maagdenberg; Trevor G Smart; Stéphane Supplisson; Robert Justin Harvey
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Nature genetics 2006;38(7):801-6.
2006: Robert P Young; R Hopkins; Peter N Black; C Eddy; L Wu; G D Gamble; Graham D Mills; Jeffrey E Garrett; Tam E Eaton; Mark I Rees
Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function.
Thorax 2006;61(5):394-9.
2006: Mira Harrison-Woolrych; David W J Clark; Geraldine R Hill; Mark I Rees; Jonathan R Skinner
QT interval prolongation associated with sibutramine treatment.
British journal of clinical pharmacology 2006;61(4):464-9.
2006: Henry J Waldvogel; Maurice A Curtis; Kristin Baer; Mark I Rees; Richard L M Faull
Immunohistochemical staining of post-mortem adult human brain sections.
Nature protocols 2006;1(6):2719-32.
2005: Jonathan R Skinner; Seo-Kyung Chung; D Montgomery; C H McCulley; J Crawford; J French; Mark I Rees
Near-miss SIDS due to Brugada syndrome.
Archives of disease in childhood 2005;90(5):528-9.
2004: Kirsten Harvey; Ian C Duguid; Melissa J Alldred; Sarah E Beatty; Hamish Ward; Nicholas H Keep; Sue E Lingenfelter; Brian R Pearce; Johan Lundgren; Michael J Owen; Trevor G Smart; Bernhard Lüscher; Mark I Rees; Robert Justin Harvey
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(25):5816-26.
2004: Suzanne J Reid; Willeke van Roon-Mom; Phil C Wood; Mark I Rees; Michael J Owen; Richard L M Faull; Michael Dragunow; Russell G Snell
TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.
Brain research. Molecular brain research 2004;125(1-2):120-8.
2003: N M Thompson-Vest; Henry J Waldvogel; Mark I Rees; Richard L M Faull
GABA(A) receptor subunit and gephyrin protein changes differ in the globus pallidus in Huntington's diseased brain.
Brain research 2003;994(2):265-70.
2003: Mark I Rees; Kirsten Harvey; Hamish Ward; Julia H White; Luc Evans; Ian C Duguid; Cynthia C-H Hsu; Sharon L Coleman; Jan Miller; Kristin Baer; Henry J Waldvogel; Francis Gibbon; Trevor G Smart; Michael J Owen; Robert Justin Harvey; Russell G Snell
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
The Journal of biological chemistry 2003;278(27):24688-96.
2003: Suzanne J Reid; Mark I Rees; Willeke van Roon-Mom; A Lesley Jones; Marcy E MacDonald; Greg Sutherland; Matthew J During; Richard L M Faull; Michael J Owen; Michael Dragunow; Russell G Snell
Molecular investigation of TBP allele length: a SCA17 cellular model and population study.
Neurobiology of disease 2003;13(1):37-45.
2003: Kristin Baer; Henry J Waldvogel; Matthew J During; Russell G Snell; Richard L M Faull; Mark I Rees
Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.
Neuroscience 2003;122(3):773-84.
2003: Henry J Waldvogel; Kristin Baer; Russell G Snell; Matthew J During; Richard L M Faull; Mark I Rees
Distribution of gephyrin in the human brain: an immunohistochemical analysis.
Neuroscience 2003;116(1):145-56.
2002: Mark I Rees; Trevor M Lewis; John B J Kwok; Geert R Mortier; Paul Govaert; Russell G Snell; Peter R Schofield; Michael J Owen
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).
Human molecular genetics 2002;11(7):853-60.
2002: R J Anney; Mark I Rees; E Bryan; Gillian Spurlock; Nigel Williams; Nadine Norton; Hywel Williams; Alastair G Cardno; Stanley Zammit; Sue Jones; G Jones; Bastiaan Hoogendoorn; Kaye Smith; Marian Hamshere; S Coleman; Carol Guy; Michael C O'Donovan; Michael J Owen; Paul R Buckland
Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.
Molecular psychiatry 2002;7(5):493-502.
2001: Mark I Rees; Trevor M Lewis; B Vafa; Colin D Ferrie; Peter Corry; F Muntoni; Heinz Jungbluth; John B P Stephenson; M Kerr; Russell G Snell; Peter R Schofield; Michael J Owen
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.
Human genetics 2001;109(3):267-70.
2001: Alastair G Cardno; Peter Holmans; Mark I Rees; Lisa Anne Jones; Geraldine M McCarthy; Marian Hamshere; Nigel M Williams; Nadine Norton; Hywel J Williams; Iain Fenton; Kieran C Murphy; Robert D Sanders; MY Gray; Michael C O'Donovan; Peter McGuffin; Michael J Owen
A genomewide linkage study of age at onset in schizophrenia.
American journal of medical genetics 2001;105(5):439-45.
2000: Mark I Rees; P Watts; Iain Fenton; Angus Clarke; Russell G Snell; Michael J Owen; J Gray
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
Human genetics 2000;106(2):206-9.
2000: Heinz Jungbluth; Mark I Rees; Adnan Y Manzur; E Mercuri; Caroline A Sewry; P Gobbi; Francesco Muntoni
An unusual case of hyperekplexia.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(2):77-80.
1999: Nigel M Williams; Mark I Rees; Peter Holmans; Nadine Norton; Alastair G Cardno; Lisa Anne Jones; Kieran C Murphy; Robert D Sanders; G McCarthy; MY Gray; Iain Fenton; Peter McGuffin; Michael J Owen
A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs.
Human molecular genetics 1999;8(9):1729-39.
1999: Mark I Rees; Iain Fenton; Nigel M Williams; Peter Holmans; Nadine Norton; Alastair G Cardno; Philip Asherson; Gillian Spurlock; E Roberts; E Parfitt; R Mant; Homero Vallada; E Dawson; M W Li; DA Collier; John F Powell; S Nanko; Michael Gill; Peter McGuffin; Michael J Owen
Autosome search for schizophrenia susceptibility genes in multiply affected families.
Molecular psychiatry 1999;4(4):353-9.
1994: Mark I Rees; M Andrew; S Jawad; Michael J Owen
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.
Human molecular genetics 1994;3(12):2175-9.
1994: Mark I Rees; Mark Worwood; P W Thompson; C Gilbertson; A May
Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21).
British journal of haematology 1994;87(2):386-95.