Publications by authors named "Gillian Rice"

91Publications

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.

Am J Hum Genet 2020 05 30;106(5):694-706. Epub 2020 Apr 30.

Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212298PMC
May 2020

Clinical Reasoning: A 25-year-old woman with recurrent episodes of collapse and loss of consciousness.

Neurology 2020 06 1;94(22):994-999. Epub 2020 May 1.

From the Departments of Neurology (J.W., M.R.B., R.H.T.), Clinical Neurophysiology (M.R.B.), and Infectious Disease (D.A.P.), Royal Victoria Infirmary; Institute of Neuroscience (M.R.B., R.H.T.), Newcastle-Upon-Tyne, UK; Institute of Neurosciences Kolkata (S.T., H.K.), India; Division of Evolution and Genomic Sciences (G.I.R.), School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre; Centre for Genomic and Experimental Medicine (Y.C.), MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, UK; and Laboratory of Neurogenetics and Neuroinflammation (Y.C.), Institut Imagine, Paris Descartes University, France.

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http://dx.doi.org/10.1212/WNL.0000000000009533DOI Listing
June 2020

PSMB10, the last immunoproteasome gene missing for PRAAS.

J Allergy Clin Immunol 2020 Mar 26;145(3):1015-1017.e6. Epub 2019 Nov 26.

IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France; Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CHU Montpellier, Univ Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.jaci.2019.11.024DOI Listing
March 2020

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Neuropediatrics 2020 06 28;51(3):178-184. Epub 2019 Nov 28.

Laboratory of Neurogenetics and Neuroinflammation, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1055/s-0039-3400979DOI Listing
June 2020

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

RNASEH2B Related Adult-Onset Interferonopathy.

J Clin Immunol 2019 08 31;39(6):620-622. Epub 2019 Jul 31.

Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s10875-019-00673-wDOI Listing
August 2019

Global phylogeography and ancient evolution of the widespread human gut virus crAssphage.

Authors:
Robert A Edwards Alejandro A Vega Holly M Norman Maria Ohaeri Kyle Levi Elizabeth A Dinsdale Ondrej Cinek Ramy K Aziz Katelyn McNair Jeremy J Barr Kyle Bibby Stan J J Brouns Adrian Cazares Patrick A de Jonge Christelle Desnues Samuel L Díaz Muñoz Peter C Fineran Alexander Kurilshikov Rob Lavigne Karla Mazankova David T McCarthy Franklin L Nobrega Alejandro Reyes Muñoz German Tapia Nicole Trefault Alexander V Tyakht Pablo Vinuesa Jeroen Wagemans Alexandra Zhernakova Frank M Aarestrup Gunduz Ahmadov Abeer Alassaf Josefa Anton Abigail Asangba Emma K Billings Vito Adrian Cantu Jane M Carlton Daniel Cazares Gyu-Sung Cho Tess Condeff Pilar Cortés Mike Cranfield Daniel A Cuevas Rodrigo De la Iglesia Przemyslaw Decewicz Michael P Doane Nathaniel J Dominy Lukasz Dziewit Bashir Mukhtar Elwasila A Murat Eren Charles Franz Jingyuan Fu Cristina Garcia-Aljaro Elodie Ghedin Kristen M Gulino John M Haggerty Steven R Head Rene S Hendriksen Colin Hill Heikki Hyöty Elena N Ilina Mitchell T Irwin Thomas C Jeffries Juan Jofre Randall E Junge Scott T Kelley Mohammadali Khan Mirzaei Martin Kowalewski Deepak Kumaresan Steven R Leigh David Lipson Eugenia S Lisitsyna Montserrat Llagostera Julia M Maritz Linsey C Marr Angela McCann Shahar Molshanski-Mor Silvia Monteiro Benjamin Moreira-Grez Megan Morris Lawrence Mugisha Maite Muniesa Horst Neve Nam-Phuong Nguyen Olivia D Nigro Anders S Nilsson Taylor O'Connell Rasha Odeh Andrew Oliver Mariana Piuri Aaron J Prussin Ii Udi Qimron Zhe-Xue Quan Petra Rainetova Adán Ramírez-Rojas Raul Raya Kim Reasor Gillian A O Rice Alessandro Rossi Ricardo Santos John Shimashita Elyse N Stachler Lars C Stene Ronan Strain Rebecca Stumpf Pedro J Torres Alan Twaddle MaryAnn Ugochi Ibekwe Nicolás Villagra Stephen Wandro Bryan White Andy Whiteley Katrine L Whiteson Cisca Wijmenga Maria M Zambrano Henrike Zschach Bas E Dutilh

Nat Microbiol 2019 10 8;4(10):1727-1736. Epub 2019 Jul 8.

Theoretical Biology and Bioinformatics, Science4Life, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41564-019-0494-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440971PMC
October 2019

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

J Exp Med 2019 05 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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
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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

Aicardi-Goutières syndrome: description of a late onset case.

Dev Med Child Neurol 2008 Aug;50(8):631-4

Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy.

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http://doi.wiley.com/10.1111/j.1469-8749.2008.03033.x
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http://dx.doi.org/10.1111/j.1469-8749.2008.03033.xDOI Listing
August 2008

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
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http://dx.doi.org/10.1111/j.1600-0560.2007.00900.xDOI Listing
August 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

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
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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

ACEH/ACE2 is a novel mammalian metallocarboxypeptidase and a homologue of angiotensin-converting enzyme insensitive to ACE inhibitors.

Can J Physiol Pharmacol 2002 Apr;80(4):346-53

Proteolysis Research Group, School of Biochemistry and Molecular Biology, University of Leeds, UK.

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http://dx.doi.org/10.1139/y02-021DOI Listing
April 2002