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Ian M. Carr
Researcher at University of Leeds
Publications - 120
Citations - 5970
Ian M. Carr is an academic researcher from University of Leeds. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 37, co-authored 118 publications receiving 5032 citations. Previous affiliations of Ian M. Carr include University of Washington & University of Florida.
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Journal ArticleDOI
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Gillian I. Rice,Jacquelyn Bond,Aruna Asipu,Rebecca L. Brunette,Iain W. Manfield,Ian M. Carr,Jonathan C. Fuller,Richard M. Jackson,Teresa Lamb,Tracy A Briggs,Manir Ali,Hannah Gornall,Lydia R Couthard,Alec Aeby,Simon Attard-Montalto,Enrico Bertini,Christine Bodemer,Knut Brockmann,Louise Brueton,Peter Corry,Isabelle Desguerre,Elisa Fazzi,Angels Garcia Cazorla,Blanca Gener,Ben C.J. Hamel,Arvid Heiberg,Matthew F. Hunter,Marjo S. van der Knaap,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Charles Marques Lourenço,Daphna Marom,Michael F. McDermott,William G. Van Der Merwe,Simona Orcesi,Julie S. Prendiville,Magnhild Rasmussen,Stavit A. Shalev,Doriette Soler,Marwan Shinawi,Ronen Spiegel,Tiong Yang Tan,Adeline Vanderver,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,Pierre Lebon,Daniel B. Stetson,David T. Bonthron,Yanick J. Crow +50 more
TL;DR: Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.
Journal ArticleDOI
Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain
Andrew P. Jackson,Andrew P. Jackson,Helen Eastwood,Sandra M. Bell,Jimi Adu,Carmel Toomes,Ian M. Carr,Emma Roberts,Daniel J. Hampshire,Yanick J. Crow,Yanick J. Crow,Alan J. Mighell,G. Karbani,Hussain Jafri,Yasmin Rashid,Robert F. Mueller,Robert F. Mueller,Alexander F. Markham,C. Geoffrey Woods,C. Geoffrey Woods +19 more
TL;DR: It is reported that a gene within this interval, encoding a BRCA1 C-terminal domain-containing protein, is mutated in MCPH1 families sharing an ancestral 8p23 haplotype, and this gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain.
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
Identification of SATB2 as the cleft palate gene on 2q32-q33
David R. FitzPatrick,Ian M. Carr,Lorna McLaren,J.P. Leek,Patrick J. Wightman,Kathy Williamson,Philippe Gautier,Niolette I. McGill,Caroline Hayward,Helen V. Firth,Alex F. Markham,J. Fantes,David T. Bonthron +12 more
TL;DR: High-resolution FISH mapping of two de novo CPO-associated translocations involving 2q32-q33 shows that one breakpoint interrupts the transcription unit of the gene encoding the DNA-binding protein SATB2 (formerly KIAA1034), which shows a remarkable degree of evolutionary conservation.
Journal ArticleDOI
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
S. Uppal,S. Uppal,Christine P. Diggle,Ian M. Carr,Colin W. G. Fishwick,Mushtaq Ahmed,Gamal H Ibrahim,Philip S Helliwell,Anna Latos-Bielenska,Simon E. V. Phillips,Alexander F. Markham,Christopher P. Bennett,David T. Bonthron +12 more
TL;DR: These findings not only suggest therapies for PHO, but also imply that clubbing secondary to other pathologies may be prostaglandin mediated, and testing for HPGD mutations and biochemical testing forHPGD deficiency in patients with unexplained clubbing might help to obviate extensive searches for occult pathology.