Kate Downes

Kate Downes

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Kate Downes

Publications by authors named "Kate Downes"

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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Neurology 2019 Nov 12;93(22):e2007-e2020. Epub 2019 Nov 12.

From the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000008544DOI Listing
November 2019

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.

Platelets 2019 17;30(7):931-934. Epub 2019 Jun 17.

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven , Leuven , Belgium.

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http://dx.doi.org/10.1080/09537104.2019.1628197DOI Listing
June 2019

Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells.

Sci Rep 2017 10 10;7(1):12886. Epub 2017 Oct 10.

MRC Mitochondrial Biology Unit, University of Cambridge, Hills Road, Cambridge, CB2 0XY, UK.

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http://dx.doi.org/10.1038/s41598-017-13227-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634993PMC
October 2017

Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems.

Cell Rep 2016 11;17(8):2101-2111

CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, Barcelona 08028, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08002, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.10.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889099PMC
November 2016

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Cell 2016 11;167(5):1398-1414.e24

Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Strangeways Research Laboratory, University of Cambridge, Wort's Causeway, Cambridge CB1 8RN, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674163144
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http://dx.doi.org/10.1016/j.cell.2016.10.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119954PMC
November 2016

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

Cell 2016 11;167(5):1415-1429.e19

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK; Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Strangeways Research Laboratory, Wort's Causeway, Cambridge CB1 8RN, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.10.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300907PMC
November 2016

Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients.

Diabetologia 2014 Feb 22;57(2):366-72. Epub 2013 Nov 22.

JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, CB2 0XY, UK.

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http://link.springer.com/10.1007/s00125-013-3113-8
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http://dx.doi.org/10.1007/s00125-013-3113-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890035PMC
February 2014

Postthymic expansion in human CD4 naive T cells defined by expression of functional high-affinity IL-2 receptors.

J Immunol 2013 Mar 15;190(6):2554-66. Epub 2013 Feb 15.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, United Kingdom.

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http://dx.doi.org/10.4049/jimmunol.1202914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614027PMC
March 2013

A mutation in the thyroid hormone receptor alpha gene.

N Engl J Med 2012 Jan 14;366(3):243-9. Epub 2011 Dec 14.

University of Cambridge Metabolic Research Laboratories and National Institute for Health Research Cambridge Biomedical Research Centre, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1110296DOI Listing
January 2012

FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection.

Diabetes 2011 Nov;60(11):3081-4

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.2337/db11-0638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198057PMC
November 2011

Evidence of association with type 1 diabetes in the SLC11A1 gene region.

BMC Med Genet 2011 Apr 27;12:59. Epub 2011 Apr 27.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0XY, UK.

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http://dx.doi.org/10.1186/1471-2350-12-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114708PMC
April 2011

Reduced expression of IFIH1 is protective for type 1 diabetes.

PLoS One 2010 Sep 9;5(9). Epub 2010 Sep 9.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936573PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0012646PLOS
September 2010

Association analysis of myosin IXB and type 1 diabetes.

Hum Immunol 2010 Jun 1;71(6):598-601. Epub 2010 Apr 1.

Department Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.humimm.2010.03.002DOI Listing
June 2010

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Authors:
Nick Craddock Matthew E Hurles Niall Cardin Richard D Pearson Vincent Plagnol Samuel Robson Damjan Vukcevic Chris Barnes Donald F Conrad Eleni Giannoulatou Chris Holmes Jonathan L Marchini Kathy Stirrups Martin D Tobin Louise V Wain Chris Yau Jan Aerts Tariq Ahmad T Daniel Andrews Hazel Arbury Anthony Attwood Adam Auton Stephen G Ball Anthony J Balmforth Jeffrey C Barrett Inês Barroso Anne Barton Amanda J Bennett Sanjeev Bhaskar Katarzyna Blaszczyk John Bowes Oliver J Brand Peter S Braund Francesca Bredin Gerome Breen Morris J Brown Ian N Bruce Jaswinder Bull Oliver S Burren John Burton Jake Byrnes Sian Caesar Chris M Clee Alison J Coffey John M C Connell Jason D Cooper Anna F Dominiczak Kate Downes Hazel E Drummond Darshna Dudakia Andrew Dunham Bernadette Ebbs Diana Eccles Sarah Edkins Cathryn Edwards Anna Elliot Paul Emery David M Evans Gareth Evans Steve Eyre Anne Farmer I Nicol Ferrier Lars Feuk Tomas Fitzgerald Edward Flynn Alistair Forbes Liz Forty Jayne A Franklyn Rachel M Freathy Polly Gibbs Paul Gilbert Omer Gokumen Katherine Gordon-Smith Emma Gray Elaine Green Chris J Groves Detelina Grozeva Rhian Gwilliam Anita Hall Naomi Hammond Matt Hardy Pile Harrison Neelam Hassanali Husam Hebaishi Sarah Hines Anne Hinks Graham A Hitman Lynne Hocking Eleanor Howard Philip Howard Joanna M M Howson Debbie Hughes Sarah Hunt John D Isaacs Mahim Jain Derek P Jewell Toby Johnson Jennifer D Jolley Ian R Jones Lisa A Jones George Kirov Cordelia F Langford Hana Lango-Allen G Mark Lathrop James Lee Kate L Lee Charlie Lees Kevin Lewis Cecilia M Lindgren Meeta Maisuria-Armer Julian Maller John Mansfield Paul Martin Dunecan C O Massey Wendy L McArdle Peter McGuffin Kirsten E McLay Alex Mentzer Michael L Mimmack Ann E Morgan Andrew P Morris Craig Mowat Simon Myers William Newman Elaine R Nimmo Michael C O'Donovan Abiodun Onipinla Ifejinelo Onyiah Nigel R Ovington Michael J Owen Kimmo Palin Kirstie Parnell David Pernet John R B Perry Anne Phillips Dalila Pinto Natalie J Prescott Inga Prokopenko Michael A Quail Suzanne Rafelt Nigel W Rayner Richard Redon David M Reid Renwick Susan M Ring Neil Robertson Ellie Russell David St Clair Jennifer G Sambrook Jeremy D Sanderson Helen Schuilenburg Carol E Scott Richard Scott Sheila Seal Sue Shaw-Hawkins Beverley M Shields Matthew J Simmonds Debbie J Smyth Elilan Somaskantharajah Katarina Spanova Sophia Steer Jonathan Stephens Helen E Stevens Millicent A Stone Zhan Su Deborah P M Symmons John R Thompson Wendy Thomson Mary E Travers Clare Turnbull Armand Valsesia Mark Walker Neil M Walker Chris Wallace Margaret Warren-Perry Nicholas A Watkins John Webster Michael N Weedon Anthony G Wilson Matthew Woodburn B Paul Wordsworth Allan H Young Eleftheria Zeggini Nigel P Carter Timothy M Frayling Charles Lee Gil McVean Patricia B Munroe Aarno Palotie Stephen J Sawcer Stephen W Scherer David P Strachan Chris Tyler-Smith Matthew A Brown Paul R Burton Mark J Caulfield Alastair Compston Martin Farrall Stephen C L Gough Alistair S Hall Andrew T Hattersley Adrian V S Hill Christopher G Mathew Marcus Pembrey Jack Satsangi Michael R Stratton Jane Worthington Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem Ouwehand Miles Parkes Nazneen Rahman John A Todd Nilesh J Samani Peter Donnelly

Nature 2010 Apr;464(7289):713-20

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http://dx.doi.org/10.1038/nature08979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892339PMC
April 2010

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing.

Hum Mol Genet 2010 Jan;19(1):122-34

Centre for Digestive Diseases, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1093/hmg/ddp473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2792152PMC
January 2010

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.

Nat Genet 2009 Sep 23;41(9):1011-5. Epub 2009 Aug 23.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge, UK.

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http://www.nature.com/articles/ng.434
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http://dx.doi.org/10.1038/ng.434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749506PMC
September 2009

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

Nat Genet 2008 Dec 2;40(12):1399-401. Epub 2008 Nov 2.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635556PMC
December 2008

Shared and distinct genetic variants in type 1 diabetes and celiac disease.

N Engl J Med 2008 Dec 10;359(26):2767-77. Epub 2008 Dec 10.

Juvenile Diabetes Research Foundation-Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom.

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http://www.nejm.org/doi/abs/10.1056/NEJMoa0807917
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http://dx.doi.org/10.1056/NEJMoa0807917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840835PMC
December 2008

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

Authors:
Paul R Burton David G Clayton Lon R Cardon Nick Craddock Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem H Ouwehand Nilesh J Samani John A Todd Peter Donnelly Jeffrey C Barrett Dan Davison Doug Easton David M Evans Hin-Tak Leung Jonathan L Marchini Andrew P Morris Chris C A Spencer Martin D Tobin Antony P Attwood James P Boorman Barbara Cant Ursula Everson Judith M Hussey Jennifer D Jolley Alexandra S Knight Kerstin Koch Elizabeth Meech Sarah Nutland Christopher V Prowse Helen E Stevens Niall C Taylor Graham R Walters Neil M Walker Nicholas A Watkins Thilo Winzer Richard W Jones Wendy L McArdle Susan M Ring David P Strachan Marcus Pembrey Gerome Breen David St Clair Sian Caesar Katharine Gordon-Smith Lisa Jones Christine Fraser Elaine K Green Detelina Grozeva Marian L Hamshere Peter A Holmans Ian R Jones George Kirov Valentina Moskivina Ivan Nikolov Michael C O'Donovan Michael J Owen David A Collier Amanda Elkin Anne Farmer Richard Williamson Peter McGuffin Allan H Young I Nicol Ferrier Stephen G Ball Anthony J Balmforth Jennifer H Barrett Timothy D Bishop Mark M Iles Azhar Maqbool Nadira Yuldasheva Alistair S Hall Peter S Braund Richard J Dixon Massimo Mangino Suzanne Stevens John R Thompson Francesca Bredin Mark Tremelling Miles Parkes Hazel Drummond Charles W Lees Elaine R Nimmo Jack Satsangi Sheila A Fisher Alastair Forbes Cathryn M Lewis Clive M Onnie Natalie J Prescott Jeremy Sanderson Christopher G Matthew Jamie Barbour M Khalid Mohiuddin Catherine E Todhunter John C Mansfield Tariq Ahmad Fraser R Cummings Derek P Jewell John Webster Morris J Brown Mark G Lathrop John Connell Anna Dominiczak Carolina A Braga Marcano Beverley Burke Richard Dobson Johannie Gungadoo Kate L Lee Patricia B Munroe Stephen J Newhouse Abiodun Onipinla Chris Wallace Mingzhan Xue Mark Caulfield Martin Farrall Anne Barton Ian N Bruce Hannah Donovan Steve Eyre Paul D Gilbert Samantha L Hilder Anne M Hinks Sally L John Catherine Potter Alan J Silman Deborah P M Symmons Wendy Thomson Jane Worthington David B Dunger Barry Widmer Timothy M Frayling Rachel M Freathy Hana Lango John R B Perry Beverley M Shields Michael N Weedon Andrew T Hattersley Graham A Hitman Mark Walker Kate S Elliott Christopher J Groves Cecilia M Lindgren Nigel W Rayner Nicolas J Timpson Eleftheria Zeggini Melanie Newport Giorgio Sirugo Emily Lyons Fredrik Vannberg Adrian V S Hill Linda A Bradbury Claire Farrar Jennifer J Pointon Paul Wordsworth Matthew A Brown Jayne A Franklyn Joanne M Heward Matthew J Simmonds Stephen C L Gough Sheila Seal Michael R Stratton Nazneen Rahman Maria Ban An Goris Stephen J Sawcer Alastair Compston David Conway Muminatou Jallow Melanie Newport Giorgio Sirugo Kirk A Rockett Suzannah J Bumpstead Amy Chaney Kate Downes Mohammed J R Ghori Rhian Gwilliam Sarah E Hunt Michael Inouye Andrew Keniry Emma King Ralph McGinnis Simon Potter Rathi Ravindrarajah Pamela Whittaker Claire Widden David Withers Niall J Cardin Dan Davison Teresa Ferreira Joanne Pereira-Gale Ingeleif B Hallgrimsdo'ttir Bryan N Howie Zhan Su Yik Ying Teo Damjan Vukcevic David Bentley Matthew A Brown Alastair Compston Martin Farrall Alistair S Hall Andrew T Hattersley Adrian V S Hill Miles Parkes Marcus Pembrey Michael R Stratton Sarah L Mitchell Paul R Newby Oliver J Brand Jackie Carr-Smith Simon H S Pearce R McGinnis A Keniry P Deloukas John D Reveille Xiaodong Zhou Anne-Marie Sims Alison Dowling Jacqueline Taylor Tracy Doan John C Davis Laurie Savage Michael M Ward Thomas L Learch Michael H Weisman Mathew Brown

Nat Genet 2007 Nov 21;39(11):1329-37. Epub 2007 Oct 21.

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK.

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http://dx.doi.org/10.1038/ng.2007.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680141PMC
November 2007

The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.

BMC Med Genet 2007 Nov 28;8:71. Epub 2007 Nov 28.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-8-71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2217539PMC
November 2007

SNP allele frequency estimation in DNA pools and variance components analysis.

Biotechniques 2004 May;36(5):840-5

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.2144/04365RR01DOI Listing
May 2004