Simon A Jones

Simon A Jones

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Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders.

Free Radic Biol Med 2019 Nov 19;144:124-133. Epub 2019 Apr 19.

Institute of Life Science, Swansea University Medical School, Singleton Park, Swansea, SA2 8PP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.freeradbiomed.2019.04.020DOI Listing
November 2019

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism.

Front Pediatr 2019 25;7:433. Epub 2019 Oct 25.

Metabolic and Blood and Marrow Transplant Units, Royal Manchester Children's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.3389/fped.2019.00433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824291PMC
October 2019

Pajama Time: Working After Work in the Electronic Health Record.

J Gen Intern Med 2019 Sep;34(9):1695-1696

Division of General Internal Medicine and Clinical Innovation, Department of Medicine, NYU School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1007/s11606-019-05055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712097PMC
September 2019

Creating a Learning Health System through Rapid-Cycle, Randomized Testing.

N Engl J Med 2019 Sep;381(12):1175-1179

From the Center for Healthcare Innovation and Delivery Science, NYU Langone Health (L.I.H., M.K., S.A.J.), and the Division of Healthcare Delivery Science, Department of Population Health (L.I.H., S.A.J.), and the Division of General Internal Medicine and Clinical Innovation, Department of Medicine (L.I.H.), NYU School of Medicine, New York.

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http://dx.doi.org/10.1056/NEJMsb1900856DOI Listing
September 2019

Bending the cost curve: time series analysis of a value transformation programme at an academic medical centre.

BMJ Qual Saf 2019 06 15;28(6):449-458. Epub 2019 Mar 15.

Division of General Internal Medicine and Clinical Innovation, Department of Medicine, NYU School of Medicine, New York, NY, USA

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http://dx.doi.org/10.1136/bmjqs-2018-009068DOI Listing
June 2019

T-Cell-Specific PTPN2 Deficiency in NOD Mice Accelerates the Development of Type 1 Diabetes and Autoimmune Comorbidities.

Diabetes 2019 Jun 1;68(6):1251-1266. Epub 2019 Apr 1.

Monash Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia

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http://dx.doi.org/10.2337/db18-1362DOI Listing
June 2019

Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.

Mol Ther Methods Clin Dev 2019 Jun 2;13:321-333. Epub 2019 Mar 2.

Stem Cell and Neurotherapies, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.omtm.2019.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441787PMC
June 2019

Pre-clinical Safety and Efficacy of Lentiviral Vector-Mediated Stem Cell Gene Therapy for the Treatment of Mucopolysaccharidosis IIIA.

Mol Ther Methods Clin Dev 2019 Jun 6;13:399-413. Epub 2019 Apr 6.

Stem Cell & Neurotherapies Group, School of Biological Sciences, Faculty of Biology Medicine and Health, Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1016/j.omtm.2019.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6479204PMC
June 2019

Association of Genetic Risk for Rheumatoid Arthritis With Cognitive and Psychiatric Phenotypes Across Childhood and Adolescence.

JAMA Netw Open 2019 Jun 5;2(6):e196118. Epub 2019 Jun 5.

Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1001/jamanetworkopen.2019.6118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593640PMC
June 2019

Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy.

PLoS One 2018 18;13(9):e0203216. Epub 2018 Sep 18.

Stem Cell and Neurotherapies, Division of Cell Matrix Biology & Regenerative Medicine, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203216PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143186PMC
February 2019

Tracking Competent Host Defence to Chronic Inflammation: An In Vivo Model of Peritonitis.

Methods Mol Biol 2018 ;1725:65-75

Division of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, Wales, UK.

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http://link.springer.com/10.1007/978-1-4939-7568-6_6
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http://dx.doi.org/10.1007/978-1-4939-7568-6_6DOI Listing
January 2019

Recent insights into targeting the IL-6 cytokine family in inflammatory diseases and cancer.

Nat Rev Immunol 2018 12;18(12):773-789

Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, Victoria, Australia.

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http://www.nature.com/articles/s41577-018-0066-7
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http://dx.doi.org/10.1038/s41577-018-0066-7DOI Listing
December 2018

Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents.

J Genet Couns 2018 09 21;27(5):1074-1086. Epub 2018 Feb 21.

Division of Psychology and Mental Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s10897-018-0227-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132571PMC
September 2018

The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).

Acta Ophthalmol 2018 Aug 14;96(5):494-498. Epub 2017 Dec 14.

Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1111/aos.13627DOI Listing
August 2018

Home infusion with Elosulfase alpha (Vimizim) in a UK Paediatric setting.

Mol Genet Metab Rep 2018 Mar 5;14:15-18. Epub 2017 Nov 5.

Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, UK.

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http://dx.doi.org/10.1016/j.ymgmr.2017.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675729PMC
March 2018

Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms.

Mol Genet Metab 2017 12 26;122S:1-7. Epub 2017 Aug 26.

Program for the Study of Neurodevelopment in Rare Disorders, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.08.009DOI Listing
December 2017

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Mol Genet Metab 2017 12 27;122S:35-40. Epub 2017 Sep 27.

Department of Child Neurology, Hospital Universitario Austral, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.010DOI Listing
December 2017

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Hum Mutat 2017 11 17;38(11):1555-1568. Epub 2017 Aug 17.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1002/humu.23301DOI Listing
November 2017

Incidence, Demographics, and Clinical Characteristics of Diabetes of the Exocrine Pancreas (Type 3c): A Retrospective Cohort Study.

Diabetes Care 2017 11 31;40(11):1486-1493. Epub 2017 Aug 31.

Department of Clinical and Experimental Medicine, University of Surrey, Guildford, Surrey, U.K.

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http://dx.doi.org/10.2337/dc17-0542DOI Listing
November 2017

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS).

J Inherit Metab Dis 2017 11 8;40(6):867-874. Epub 2017 Sep 8.

Willink Unit, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester and Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1007/s10545-017-0075-xDOI Listing
November 2017

Corrigendum: IL-6 as a keystone cytokine in health and disease.

Nat Immunol 2017 10;18(11):1271

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http://dx.doi.org/10.1038/ni1117-1271bDOI Listing
October 2017

Mortality in patients with Sanfilippo syndrome.

Orphanet J Rare Dis 2017 10 23;12(1):168. Epub 2017 Oct 23.

Manchester Centre for Genomic Medicine, Manchester, UK.

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http://dx.doi.org/10.1186/s13023-017-0717-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654004PMC
October 2017

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Pediatrics 2017 Jul;140(Suppl 1):S24-S45

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

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http://dx.doi.org/10.1542/peds.2016-0280EDOI Listing
July 2017

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Orphanet J Rare Dis 2017 06 26;12(1):117. Epub 2017 Jun 26.

Willink Biochemical Genetics Unit, Manchester Centre For Genomic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0675-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485703PMC
June 2017

IL-6 Trans-Signaling Links Inflammation with Angiogenesis in the Peritoneal Membrane.

J Am Soc Nephrol 2017 Apr 11;28(4):1188-1199. Epub 2016 Nov 11.

Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany;

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http://dx.doi.org/10.1681/ASN.2015101169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373439PMC
April 2017

Objective Quantification of Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis.

Invest Ophthalmol Vis Sci 2017 02;58(2):954-958

Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Manchester, United Kingdom 2Faculty of Medical and Human Sciences, Centre for Ophthalmology and Vision Sciences, Institute of Human Development, University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.1167/iovs.16-20647DOI Listing
February 2017

Death Receptor 3 Promotes Chemokine-Directed Leukocyte Recruitment in Acute Resolving Inflammation and Is Essential for Pathological Development of Mesothelial Fibrosis in Chronic Disease.

Am J Pathol 2016 11 21;186(11):2813-2823. Epub 2016 Sep 21.

Department of Medical Microbiology and Infectious Disease, Cardiff Institute of Infection and Immunity, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2016.07.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222966PMC
November 2016

Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.

J Pediatr 2016 Nov;178:219-226.e1

Willink Biochemical Genetic Unit, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1016/j.jpeds.2016.08.033DOI Listing
November 2016

Understanding Immune Cells in Tertiary Lymphoid Organ Development: It Is All Starting to Come Together.

Front Immunol 2016 3;7:401. Epub 2016 Oct 3.

Division of Infection and Immunity, Systems Immunity URI, The School of Medicine, Cardiff University , Cardiff , UK.

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http://dx.doi.org/10.3389/fimmu.2016.00401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046062PMC
October 2016

Maternal mosaicism for deletion clarifies recurrence risk in MPS I.

Hum Genome Var 2016 6;3:16031. Epub 2016 Oct 6.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.

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http://dx.doi.org/10.1038/hgv.2016.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052355PMC
October 2016

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.

Am J Surg Pathol 2016 09;40(9):1232-42

Departments of *Pathology †Clinical Development, Sanofi Genzyme, Cambridge ¶Division of Genetics, Children's Hospital Boston #Department of Pediatrics, Harvard Medical School, Boston, MA ‡Division of Pediatric Genetic Medicine, The Children's Hospital at Montefiore, Bronx ∥Division of Liver Diseases, Mount Sinai School of Medicine, NY, NY §Manchester Centre for Genomic Medicine, St Mary's Hospital, CMFT, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1097/PAS.0000000000000659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987207PMC
September 2016

Examining the influence of country-level and health system factors on nursing and physician personnel production.

Hum Resour Health 2016 08 15;14(1):48. Epub 2016 Aug 15.

Population Health, New York University School of Medicine, 227 East 30th Street, New York, NY, 10016, United States of America.

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http://human-resources-health.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s12960-016-0145-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983794PMC
August 2016

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.

Mol Genet Metab 2016 07 10;118(3):198-205. Epub 2016 May 10.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.05.006DOI Listing
July 2016

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2016 Apr 25;117(4):438-46. Epub 2016 Jan 25.

Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, 2525 Chicago Ave South, CSC 560, Minneapolis, MN 55404, USA; Department of Pediatrics, Division of Genetics, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.009DOI Listing
April 2016

The biology behind interleukin-6 targeted interventions.

Curr Opin Rheumatol 2016 Mar;28(2):152-60

Division of Infection and Immunity, The School of Medicine, Cardiff University, Heath Campus, Cardiff , Wales, UK.

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http://dx.doi.org/10.1097/BOR.0000000000000255DOI Listing
March 2016

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres.

Mol Genet Metab 2016 Mar 27;117(3):373-7. Epub 2016 Jan 27.

Bone Marrow Transplantation Unit, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177791PMC
March 2016

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

J Bone Joint Surg Am 2016 Mar;98(5):386-95

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx," Academic Medical Center, Amsterdam, the Netherlands

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http://dx.doi.org/10.2106/JBJS.O.00601DOI Listing
March 2016

Ectopic lymphoid follicles: inducible centres for generating antigen-specific immune responses within tissues.

Immunology 2016 Feb 10;147(2):141-51. Epub 2015 Dec 10.

Division of Infection and Immunity, The School of Medicine, Cardiff University, Cardiff, UK.

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http://doi.wiley.com/10.1111/imm.12554
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http://dx.doi.org/10.1111/imm.12554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717241PMC
February 2016

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.

Pediatr Res 2015 Dec 2;78(6):717-22. Epub 2015 Sep 2.

UCSF Benioff Children's Hospital Oakland, Department of Gastroenterology, Oakland, California.

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http://dx.doi.org/10.1038/pr.2015.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700045PMC
December 2015

Depression and Outcome of Fear of Falling in a Falls Prevention Program.

Am J Geriatr Psychiatry 2015 Oct 16;23(10):1088-97. Epub 2015 Feb 16.

Department of Psychiatry, University Health Network and University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jagp.2015.02.006DOI Listing
October 2015

Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.

Biol Blood Marrow Transplant 2015 Jun 20;21(6):1106-9. Epub 2015 Feb 20.

Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2015.02.011DOI Listing
June 2015

IL-6 as a keystone cytokine in health and disease.

Nat Immunol 2015 May;16(5):448-57

Cardiff Institute of Infection and Immunity, The School of Medicine, Cardiff University, Heath Campus, Cardiff, UK.

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http://dx.doi.org/10.1038/ni.3153DOI Listing
May 2015

Interleukin-6 in renal disease and therapy.

Nephrol Dial Transplant 2015 Apr 10;30(4):564-74. Epub 2014 Jul 10.

Cardiff Institute of Infection and Immunity, Cardiff University School of Medicine, Cardiff University, Cardiff, Wales, UK.

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http://dx.doi.org/10.1093/ndt/gfu233DOI Listing
April 2015

Regulatory B cells are induced by gut microbiota-driven interleukin-1β and interleukin-6 production.

Nat Med 2014 Nov 19;20(11):1334-9. Epub 2014 Oct 19.

Centre for Rheumatology, Division of Medicine, University College London, London, UK.

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http://dx.doi.org/10.1038/nm.3680DOI Listing
November 2014

The interleukin-6 receptor Asp358Ala single nucleotide polymorphism rs2228145 confers increased proteolytic conversion rates by ADAM proteases.

Biochim Biophys Acta 2014 Sep 27;1842(9):1485-94. Epub 2014 May 27.

Institute of Biochemistry and Molecular Biology II, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.05.018DOI Listing
September 2014

Ectopic lymphoid-like structures in infection, cancer and autoimmunity.

Nat Rev Immunol 2014 Jul 20;14(7):447-62. Epub 2014 Jun 20.

Cardiff Institute for Infection and Immunity, The School of Medicine, Cardiff University, The Tenovus Building, Heath Campus, Cardiff CF14 4XN, Wales, UK.

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http://dx.doi.org/10.1038/nri3700DOI Listing
July 2014

Signal one and two blockade are both critical for non-myeloablative murine HSCT across a major histocompatibility complex barrier.

PLoS One 2013 17;8(10):e77632. Epub 2013 Oct 17.

Stem Cell & Neurotherapies, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0077632PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798400PMC
June 2014

The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.

Science 2014 May 24;344(6184):645-648. Epub 2014 Apr 24.

Cardiff Institute of Infection and Immunity, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1126/science.1251414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185421PMC
May 2014

Interleukin-6 limits influenza-induced inflammation and protects against fatal lung pathology.

Eur J Immunol 2013 Oct 12;43(10):2613-25. Epub 2013 Aug 12.

Cardiff Institute of Infection and Immunity, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1002/eji.201243018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886386PMC
October 2013