Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune...
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
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Author / Creator
Rice, Gillian I , Bond, Jacquelyn , Asipu, Aruna , Brunette, Rebecca L , Manfield, Iain W , Carr, Ian M , Fuller, Jonathan C , Jackson, Richard M , Lamb, Teresa , Briggs, Tracy A , Ali, Manir , Gornall, Hannah , Couthard, Lydia R , Aeby, Alec , Attard-Montalto, Simon P , Bertini, Enrico , Bodemer, Christine , Brockmann, Knut , Brueton, Louise A , Corry, Peter C , Desguerre, Isabelle , Fazzi, Elisa , Cazorla, Angels Garcia , Gener, Blanca , Hamel, Ben C J , Heiberg, Arvid , Hunter, Matthew , van der Knaap, Marjo S , Kumar, Ram , Lagae, Lieven , Landrieu, Pierre G , Lourenco, Charles M , Marom, Daphna , McDermott, Michael F , van der Merwe, William , Orcesi, Simona , Prendiville, Julie S , Rasmussen, Magnhild , Shalev, Stavit A , Soler, Doriette M , Shinawi, Marwan , Spiegel, Ronen , Tan, Tiong Y , Vanderver, Adeline , Wakeling, Emma L , Wassmer, Evangeline , Whittaker, Elizabeth , Lebon, Pierre , Stetson, Daniel B , Bonthron, David T and Crow, Yanick J
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Aicardi-Goutieres syndrome is a genetically determined encephalopathy that is associated with an increased production of interferon alpha, which in turn is central to the pathogenesis of systemic lupus erythematosus. Yanick Crow and colleagues now identify homozygous mutations in an interferon-inducible nuclear gene encoding SAMHD1 in AGS-affected...
Alternative Titles
Full title
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Authors, Artists and Contributors
Author / Creator
Bond, Jacquelyn
Asipu, Aruna
Brunette, Rebecca L
Manfield, Iain W
Carr, Ian M
Fuller, Jonathan C
Jackson, Richard M
Lamb, Teresa
Briggs, Tracy A
Ali, Manir
Gornall, Hannah
Couthard, Lydia R
Aeby, Alec
Attard-Montalto, Simon P
Bertini, Enrico
Bodemer, Christine
Brockmann, Knut
Brueton, Louise A
Corry, Peter C
Desguerre, Isabelle
Fazzi, Elisa
Cazorla, Angels Garcia
Gener, Blanca
Hamel, Ben C J
Heiberg, Arvid
Hunter, Matthew
van der Knaap, Marjo S
Kumar, Ram
Lagae, Lieven
Landrieu, Pierre G
Lourenco, Charles M
Marom, Daphna
McDermott, Michael F
van der Merwe, William
Orcesi, Simona
Prendiville, Julie S
Rasmussen, Magnhild
Shalev, Stavit A
Soler, Doriette M
Shinawi, Marwan
Spiegel, Ronen
Tan, Tiong Y
Vanderver, Adeline
Wakeling, Emma L
Wassmer, Evangeline
Whittaker, Elizabeth
Lebon, Pierre
Stetson, Daniel B
Bonthron, David T
Crow, Yanick J
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4154505
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4154505
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.373
