Gillian I Rice

Gillian I Rice

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Gillian I Rice

Gillian I Rice

Publications by authors named "Gillian I Rice"

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Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.

Pediatr Rheumatol Online J 2019 Oct 28;17(1):70. Epub 2019 Oct 28.

Department of Pediatrics, The University of British Columbia Faculty of Medicine, BC Children's Hospital, 4480 Oak Street, Vancouver, BC, V6H 3V4, Canada.

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http://dx.doi.org/10.1186/s12969-019-0374-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819641PMC
October 2019

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

J Exp Med 2019 May 1;216(5):1199-1213. Epub 2019 Apr 1.

Immunity and Cancer Department, Institut Curie, Paris-Sciences-et-Lettres Research University, Institut National de la Santé et de la Recherche Medicale U932, Paris, France

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http://dx.doi.org/10.1084/jem.20181329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504208PMC
May 2019

Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency.

Ann Rheum Dis 2019 03 3;78(3):431-433. Epub 2018 Oct 3.

Department of Paediatric Haematology-Immunology and Rheumatology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

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http://ard.bmj.com/lookup/doi/10.1136/annrheumdis-2018-21403
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http://dx.doi.org/10.1136/annrheumdis-2018-214037DOI Listing
March 2019

JAK 1/2 Blockade in MDA5 Gain-of-Function.

J Clin Immunol 2018 11 15;38(8):844-846. Epub 2018 Nov 15.

Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.

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http://link.springer.com/10.1007/s10875-018-0563-2
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http://dx.doi.org/10.1007/s10875-018-0563-2DOI Listing
November 2018

An open-label trial of JAK 1/2 blockade in progressive -associated neuroinflammation.

Neurology 2018 02 10;90(6):289-291. Epub 2018 Jan 10.

From The Children's Hospital at Westmead (K.K., S.B., P.B., R.C.D.), University of Sydney; Royal Prince Alfred Hospital (S.C., L.W.); Sydney Children's Hospital (A.J.), Australia; University College London (P.A.B.), Great Ormond Street Institute of Child Health; Manchester Academic Health Science Centre (G.I.R., Y.J.C.), University of Manchester, UK; and INSERM UMR1163 (Y.J.C.), Institute Imagine, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000004921DOI Listing
February 2018

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Arthritis Rheumatol 2017 10 22;69(10):2081-2091. Epub 2017 Aug 22.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Malades, AP-HP Paris, Paris, France, and University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1002/art.40179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099183PMC
October 2017

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

J Allergy Clin Immunol 2017 08 10;140(2):543-552.e5. Epub 2017 Jan 10.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.031DOI Listing
August 2017

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

J Interferon Cytokine Res 2017 05;37(5):214-219

1 Department of General Pediatrics, Muenster University Children's Hospital , Muenster, Germany .

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http://dx.doi.org/10.1089/jir.2017.0004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439407PMC
May 2017

Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus Erythematosus.

Arthritis Rheumatol 2017 04 7;69(4):800-807. Epub 2017 Mar 7.

University of Washington, Seattle.

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http://dx.doi.org/10.1002/art.40002DOI Listing
April 2017

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.

J Clin Immunol 2017 Feb 9;37(2):123-132. Epub 2016 Dec 9.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s10875-016-0359-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325846PMC
February 2017

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.

J Allergy Clin Immunol 2017 01 13;139(1):360-363.e6. Epub 2016 Aug 13.

Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.06.050DOI Listing
January 2017

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

J Allergy Clin Immunol 2016 12 20;138(6):1752-1755. Epub 2016 Aug 20.

Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.07.015DOI Listing
December 2016

JAK inhibition in STING-associated interferonopathy.

Ann Rheum Dis 2016 12 12;75(12):e75. Epub 2016 Oct 12.

Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1136/annrheumdis-2016-210504DOI Listing
December 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.

PLoS One 2015 2;10(12):e0143613. Epub 2015 Dec 2.

Department of Experimental Immunology, Academic Medical Center (AMC), University of Amsterdam (UvA), Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0143613PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667845PMC
June 2016

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

Ann Rheum Dis 2015 Oct 6;74(10):1931-9. Epub 2014 Jun 6.

Department of Experimental Immunology, Academic Medical Center, University of Amsterdam (UvA), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/annrheumdis-2014-205396DOI Listing
October 2015

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

JAMA Dermatol 2015 Aug;151(8):872-7

Department of Dermatology, St Eloi Hospital, CHRU Montpellier, Montpellier, France2University of Montpellier I, Montpellier, France9INSERM U1058, Montpellier, France.

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http://dx.doi.org/10.1001/jamadermatol.2015.0251DOI Listing
August 2015

Mutations in CECR1 associated with a neutrophil signature in peripheral blood.

Pediatr Rheumatol Online J 2014 24;12:44. Epub 2014 Sep 24.

Manchester Centre for Genomic Médecine Interne et Vasculaire of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France ; Paris Descartes University, Paris, France ; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, 3rd Floor, Room 309, 24 boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1186/1546-0096-12-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181355PMC
May 2015

Human disease phenotypes associated with mutations in TREX1.

J Clin Immunol 2015 Apr 4;35(3):235-43. Epub 2015 Mar 4.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s10875-015-0147-3DOI Listing
April 2015

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

J Immunol 2015 Mar 11;194(6):2819-25. Epub 2015 Feb 11.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Necker Hospital for Sick Children, 75015 Paris, France.

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http://dx.doi.org/10.4049/jimmunol.1403157DOI Listing
March 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

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http://dx.doi.org/10.1055/s-0034-1389161DOI Listing
December 2014

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Pediatr Neurol 2014 Dec 6;51(6):843-5. Epub 2014 Sep 6.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris, France; Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.017DOI Listing
December 2014

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.

Nat Immunol 2014 Sep 27;15(9):839-45. Epub 2014 Jul 27.

Department of Immunology, University of Washington School of Medicine, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ni.2948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139417PMC
September 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.

Neurology 2013 Mar 13;80(11):997-1002. Epub 2013 Feb 13.

Center for Genetic Medicine Research, Department of Neurology, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182872694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653200PMC
March 2013

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

Hum Mutat 2012 Jul 16;33(7):1116-22. Epub 2012 Apr 16.

CeMM - Research Center for Molecular Medicine, Austrian Academy of Sciences, Lazarettgasse 14, Vienna, Austria.

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http://dx.doi.org/10.1002/humu.22087DOI Listing
July 2012

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Am J Med Genet A 2011 Jan;155A(1):235-7

Department of Dermatology, Nottingham University Hospitals NHS Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.33778DOI Listing
January 2011

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Am J Med Genet A 2010 Oct;152A(10):2612-7

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.33620
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33620DOI Listing
October 2010

Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

Am J Med Genet A 2010 Apr;152A(4):938-42

Institute of Neuroscience and Muscle Research, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33359DOI Listing
April 2010

Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.

J Cutan Pathol 2008 Aug 17;35(8):774-8. Epub 2008 Apr 17.

Département Interhospitalier Universitaire de Dermatologie, Brugmann/HUDERF/Saint-Pierre Hospitals, Université Libre de Bruxelles (ULB), Brussels, Belgium.

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http://doi.wiley.com/10.1111/j.1600-0560.2007.00900.x
Publisher Site
http://dx.doi.org/10.1111/j.1600-0560.2007.00900.xDOI Listing
August 2008

Circulating activities of angiotensin-converting enzyme, its homolog, angiotensin-converting enzyme 2, and neprilysin in a family study.

Hypertension 2006 Nov 25;48(5):914-20. Epub 2006 Sep 25.

Proteolysis Research Group, Institute of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds, LS2 9JT United Kingdom.

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https://www.ahajournals.org/doi/10.1161/01.HYP.0000244543.91
Publisher Site
http://dx.doi.org/10.1161/01.HYP.0000244543.91937.79DOI Listing
November 2006

Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism.

Biochem J 2004 Oct;383(Pt 1):45-51

Proteolysis Research Group, School of Biochemistry and Microbiology, University of Leeds, Leeds LS2 9JT, UK.

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http://dx.doi.org/10.1042/BJ20040634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1134042PMC
October 2004