Resultados da pesquisa - Gillian Rice

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  1. 1
    Autosomal dominant inheritance of a heterozygous mutation in <i>SAMHD1</i> causing familial chilblain lupus

    Autosomal dominant inheritance of a heterozygous mutation in <i>SAMHD1</i> causing familial chilblain lupus Por Jane Ravenscroft, Mohnish Suri, Gillian Rice, Marcin Szynkiewicz, Yanick J. Crow

    Publicado em 2010
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  2. 2
    Therapies in Aicardi–Goutières syndrome

    Therapies in Aicardi–Goutières syndrome Por Yanick J. Crow, Adeline Vanderver, Simona Orcesi, Taco W. Kuijpers, Gillian Rice

    Publicado em 2013
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  3. 3
    Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism

    Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism Por Gillian Rice, Daniel A. Thomas, Peter J. Grant, Anthony J. Turner, Nigel M. Hooper

    Publicado em 2004
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  4. 4
    Circulating Activities of Angiotensin-Converting Enzyme, Its Homolog, Angiotensin-Converting Enzyme 2, and Neprilysin in a Family Study

    Circulating Activities of Angiotensin-Converting Enzyme, Its Homolog, Angiotensin-Converting Enzyme 2, and Neprilysin in a Family Study Por Gillian Rice, Amy Jones, Peter J. Grant, Angela M. Carter, Anthony J. Turner, Nigel M. Hooper

    Publicado em 2006
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  5. 5
    SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations

    SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations Por Adriana Gonçalves, Evren Karayel, Gillian Rice, Keiryn L. Bennett, Yanick J. Crow, Giulio Superti‐Furga, Tilmann Bürckstümmer

    Publicado em 2012
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  6. 6
    The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

    The SKIV2L RNA exosome limits activation of the RIG-I-like receptors Por Sterling Eckard, Gillian Rice, Alexandre Fabre, Catherine Badens, Elizabeth Gray, Jane Hartley, Yanick J. Crow, Daniel B. Stetson

    Publicado em 2014
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  7. 7
    Expression of Cyclic GMP‐AMP Synthase in Patients With Systemic Lupus Erythematosus

    Expression of Cyclic GMP‐AMP Synthase in Patients With Systemic Lupus Erythematosus Por Jie An, Laura Durcan, Reynold M. Karr, Tracy A. Briggs, Gillian Rice, Thomas H. Teal, Joshua J. Woodward, Keith B. Elkon

    Publicado em 2016
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  8. 8
    Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy

    Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy Por J Conde Munoz, M. Rodière, Nadia Jeremiah, Frédéric Rieux‐Laucat, Anthony Oojageer, Gillian Rice, Flore Rozenberg, Yanick J. Crow, D. Bessis

    Publicado em 2015
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  9. 9
    SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4+T-cells

    SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4+T-cells Por Benjamin Descours, Alexandra Cribier, Christine Chable-Bessia, Diana Ayinde, Gillian Rice, Yanick J. Crow, Ahmad Yatim, Olivier Schwartz, Nadine Laguette, Monsef Benkirane

    Publicado em 2012
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  10. 10
    ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

    ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters Por Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier

    Publicado em 2016
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  11. 11
    An open-label trial of JAK 1/2 blockade in progressive <i>IFIH1</i> -associated neuroinflammation

    An open-label trial of JAK 1/2 blockade in progressive <i>IFIH1</i> -associated neuroinflammation Por Kavitha Kothur, Sushil Bandodkar, Stephanie Chu, Louise Wienholt, Alexandra Johnson, Peter Barclay, Paul Brogan, Gillian Rice, Yanick J. Crow, Russell C. Dale

    Publicado em 2018
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  12. 12
    Characterization of <i>samhd1</i> Morphant Zebrafish Recapitulates Features of the Human Type I Interferonopathy Aicardi-Goutières Syndrome

    Characterization of <i>samhd1</i> Morphant Zebrafish Recapitulates Features of the Human Type I Interferonopathy Aicardi-Goutières Syndrome Por Paul R. Kasher, Emma M. Jenkinson, Valérie Briolat, David Gent, C. Orla Morrissey, Leo Zeef, Gillian Rice, Jean‐Pierre Levraud, Yanick J. Crow

    Publicado em 2015
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  13. 13
    A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema

    A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema Por Amy L. Cilia La Corte, Angela M. Carter, Gillian Rice, Qing Duan, Guy A. Rouleau, Albert Adam, Peter J. Grant, Nigel M. Hooper

    Publicado em 2011
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  14. 14
    A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema

    A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema Por Amy L. Cilia La Corte, Angela M. Carter, Gillian Rice, Qing Duan, Guy A. Rouleau, Albert Adam, Peter J. Grant, Nigel M. Hooper

    Publicado em 2011
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  15. 15
    Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

    Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood Por Glynis Frans, Leen Moens, Heidi Schaballie, Greet Wuyts, Adrian Liston, Koen Poesen, Ann Janssens, Gillian Rice, Yanick J. Crow, Isabelle Meyts, Xavier Bossuyt

    Publicado em 2016
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  16. 16
    Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency

    Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency Por Coralie Briand, Marie‐Louise Frémond, D. Bessis, Aurélia Carbasse, Gillian Rice, Vincent Bondet, Darragh Duffy, Lucienne Chatenoud, Stéphane Blanche, Yanick J. Crow, Bénédicte Neven

    Publicado em 2018
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  17. 17
    Neprilysin, obesity and the metabolic syndrome

    Neprilysin, obesity and the metabolic syndrome Por Kristina F. Standeven, Katharina Heß, A M Carter, Gillian Rice, P A Cordell, Anthony J. Balmforth, Bing Lü, D. Scott, Anthony J. Turner, Nigel M. Hooper, Peter J. Grant

    Publicado em 2010
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  18. 18
    Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

    Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease Por Gillian Rice, Isabelle Melki, Marie‐Louise Frémond, Tracy A. Briggs, Mathieu P. Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader‐Meunier, Alexandre Bélot, Christine Bodemer, Pierre Quartier, Yanick J. Crow

    Publicado em 2016
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  19. 19
    A child with severe juvenile dermatomyositis treated with ruxolitinib

    A child with severe juvenile dermatomyositis treated with ruxolitinib Por Florence A. Aeschlimann, Marie‐Louise Frémond, Darragh Duffy, Gillian Rice, Jean‐Luc Charuel, Vincent Bondet, Elsa Saire, Bénédicte Neven, Christine Bodemer, Laurent Balu, Cyril Gitiaux, Yanick J. Crow, Brigitte Bader‐Meunier

    Publicado em 2018
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  20. 20
    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS Por Matthieu Gratia, Mathieu P. Rodero, Cécile Conrad, Elias Bou Samra, Mathieu Maurin, Gillian Rice, Darragh Duffy, Patrick Revy, Florence Petit, Russell C. Dale, Yanick J. Crow, Mounira Amor-Guéret, Nicolas Manel

    Publicado em 2019
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