R
Rekha Parmar
Researcher at University of Leeds
Publications - 25
Citations - 2547
Rekha Parmar is an academic researcher from University of Leeds. The author has contributed to research in topics: Gene & Rheumatoid arthritis. The author has an hindex of 11, co-authored 23 publications receiving 2265 citations. Previous affiliations of Rekha Parmar include Leeds Teaching Hospitals NHS Trust & St James's University Hospital.
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Journal ArticleDOI
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Yanick J. Crow,Yanick J. Crow,Bruce E. Hayward,Rekha Parmar,Peter Robins,Andrea Leitch,Manir Ali,Deborah N. Black,Hans van Bokhoven,Han G. Brunner,Ben C.J. Hamel,Peter Corry,Frances M. Cowan,S Frints,Joerg Klepper,John H. Livingston,Sally Ann Lynch,Roger F. Massey,Jean François Meritet,Jacques L. Michaud,Gérard Ponsot,Thomas Voit,Pierre Lebon,David T. Bonthron,Andrew P. Jackson,Deborah E. Barnes,Tomas Lindahl +26 more
TL;DR: TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity, and failure of which results in the triggering of an abnormal innate immune response.
Journal ArticleDOI
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J. Crow,Yanick J. Crow,Andrea Leitch,Bruce E. Hayward,Anna Garner,Rekha Parmar,Elen Griffith,Manir Ali,Colin A. Semple,Jean Aicardi,Riyana Babul-Hirji,Clarisse Baumann,Peter Baxter,Enrico Bertini,Kate Chandler,David Chitayat,Daniel Cau,Catherine Dery,Elisa Fazzi,Cyril Goizet,Mary D. King,Joerg Klepper,Didier Lacombe,Giovanni Lanzi,Hermione Lyall,María Luisa Martínez-Frías,Michèle Mathieu,Carole McKeown,Anne Monier,Yvette Oade,Oliver Quarrell,Christopher D. Rittey,R. Curtis Rogers,Amparo Sanchis,John B.P. Stephenson,Uta Tacke,Marianne Till,John Tolmie,Pam Tomlin,Thomas Voit,Bernhard Weschke,C. Geoffrey Woods,Pierre Lebon,David T. Bonthron,Chris P. Ponting,Andrew P. Jackson +45 more
TL;DR: It is shown that AGS can result from mutations in the genes encoding any one of its three subunits, demonstrating a role for ribonuclease H in human neurological disease and suggesting an unanticipated relationship between ribonUClease H2 and the antiviral immune response that warrants further investigation.
Journal ArticleDOI
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian I. 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 Blair,Nenad Blau,David T. Bonthron,Tracy A Briggs,Louise Brueton,Han G. Brunner,Christopher J. Burke,Ian M. Carr,Daniel R. Carvalho,Kate Chandler,Hans-Jurgen Christen,Peter 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 García-Cazorla,Blanca Gener,Cyril Goizet,Francoise Goutieres,Andrew Green,Agnes Guet,Ben C.J. Hamel,Bruce E. Hayward,Arvid Heiberg,Raoul C.M. Hennekam,Marie Husson,Andrew P. Jackson,Rasieka Jayatunga,Yong-hui Jiang,Sarina G. Kant,Amy Kao,Mary D. King,Helen Kingston,Joerg Klepper,Marjo S. van der Knaap,Andrew J. Kornberg,Dieter Kotzot,Wilfried Kratzer,Didier Lacombe,Lieven Lagae,Pierre Landrieu,Giovanni Lanzi,Andrea Leitch,Ming K. Lim,John H. Livingston,Charles Marques Lourenço,E G Hermione Lyall,Sally Ann Lynch,Michael J. Lyons,Daphna Marom,John P McClure,Robert McWilliam,Serge B. Melançon,Leena D Mewasingh,Marie-Laure Moutard,Ken K. Nischal,John R. Østergaard,Julie S. Prendiville,Magnhild Rasmussen,R. Curtis Rogers,Dominique Roland,Elisabeth Rosser,Kevin Rostasy,Agathe Roubertie,Amparo Sanchis,Raphael Schiffmann,Sabine Scholl-Bürgi,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 Tolmie,Pam Tomlin,Federica Vagnarelli,Enza Maria Valente,Rudy Van Coster,Nathalie Van der Aa,Adeline Vanderver,Johannes S H Vles,Thomas Voit,Evangeline Wassmer,Bernhard Weschke,Margo L. Whiteford,Michèl A.A.P. Willemsen,Andreas Zankl,Sameer M. Zuberi,Simona Orcesi,Elisa Fazzi,Pierre Lebon,Yanick J. Crow +117 more
TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Journal ArticleDOI
Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome
Gillian I. Rice,William G. Newman,John Dean,Teresa Patrick,Rekha Parmar,Kim Flintoff,Peter Robins,Scott Harvey,Thomas Hollis,Ann O'Hara,Ariane L. Herrick,Andrew Bowden,Fred W. Perrino,Tomas Lindahl,Deborah E. Barnes,Yanick J. Crow,Yanick J. Crow +16 more
TL;DR: A de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutieres syndrome is described.
Journal ArticleDOI
Patients with RA in remission on TNF blockers: when and in whom can TNF blocker therapy be stopped?
Benazir Saleem,Helen Keen,Vincent Goëb,Rekha Parmar,Sharmin Nizam,Elizabeth M A Hensor,Sarah M Churchman,Mark T. Quinn,Richard J. Wakefield,Philip G. Conaghan,Frederique Ponchel,Paul Emery +11 more
TL;DR: In patients in remission with low levels of imaging synovitis receiving combination treatment with a TNF blockers and MTX, immunological parameters and short duration of untreated symptoms were associated with successful cessation of TNF blocker therapy.