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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

par Rice, Gillian I;Forte, Gabriella M A GM;Szynkiewicz, Marcin;Chase, Diana S;Aeby, Alec ;Abdel-Hamid, Mohamed S;Ackroyd, Sam;Allcock, Rebecca;Bailey, Kathryn M;Balottin, Umberto;Barnerias, Christine;Bernard, Genevieve;Bodemer, Christine;Botella, Maria P;Cereda, Cristina;Chandler, Kate K.E.;Dabydeen, Lyvia;Dale, Russell C;De Laet, Corinne ;De Goede, Christian G E L CG;Del Toro, Mireia;Effat, Laila;Enamorado, Noemi Nunez;Fazzi, Elisa;Gener, Blanca ;Haldre, Madli;Lin, Jean-Pierre S-M JP;Livingston, John JH;Lourenco, Charles Marques;Marques, Wilson;Oades, Patrick;Peterson, Pärt;Rasmussen, Magnhild;Roubertie, Agathe;Schmidt, Johanna Loewenstein;Shalev, Stavit A;Simon, Rogelio;Spiegel, Ronen;Swoboda, Kathryn KJ;Temtamy, Samia SA;Vassallo, Grace;Vilain, Catheline ;Vogt, Julie;Wermenbol, Vanessa ;Whitehouse, William WP;Soler, Doriette M;Olivieri, I.;Orcesi, Simona;Aglan, Mona MS;Zaki, Maha S;Abdel-Salam, Ghada M H;Vanderver, Adeline;Kisand, Kai;Rozenberg, Flore;Lebon, Pierre;Crow, Yanick J
Référence Lancet neurology, 12, 12, page (1159-1169)
Publication Publié, 2013-12

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Titre:	Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Auteur:	Rice, Gillian I; Forte, Gabriella M A GM; Szynkiewicz, Marcin; Chase, Diana S; Aeby, Alec; Abdel-Hamid, Mohamed S; Ackroyd, Sam; Allcock, Rebecca; Bailey, Kathryn M; Balottin, Umberto; Barnerias, Christine; Bernard, Genevieve; Bodemer, Christine; Botella, Maria P; Cereda, Cristina; Chandler, Kate K.E.; Dabydeen, Lyvia; Dale, Russell C; De Laet, Corinne; De Goede, Christian G E L CG; Del Toro, Mireia; Effat, Laila; Enamorado, Noemi Nunez; Fazzi, Elisa; Gener, Blanca; Haldre, Madli; Lin, Jean-Pierre S-M JP; Livingston, John JH; Lourenco, Charles Marques; Marques, Wilson; Oades, Patrick; Peterson, Pärt; Rasmussen, Magnhild; Roubertie, Agathe; Schmidt, Johanna Loewenstein; Shalev, Stavit A; Simon, Rogelio; Spiegel, Ronen; Swoboda, Kathryn KJ; Temtamy, Samia SA; Vassallo, Grace; Vilain, Catheline; Vogt, Julie; Wermenbol, Vanessa; Whitehouse, William WP; Soler, Doriette M; Olivieri, I.; Orcesi, Simona; Aglan, Mona MS; Zaki, Maha S; Abdel-Salam, Ghada M H; Vanderver, Adeline; Kisand, Kai; Rozenberg, Flore; Lebon, Pierre; Crow, Yanick J
Informations sur la publication:	Lancet neurology, 12, 12, page (1159-1169)
Statut de publication:	Publié, 2013-12
Sujet CREF:	Sciences bio-médicales et agricoles
	Génétique clinique
	Génétique moléculaire
MeSH keywords:	Adenosine Deaminase -- genetics
	Adolescent
	Adult
	Autoantibodies -- blood
	Autoimmune Diseases of the Nervous System -- genetics -- metabolism
	Biomarkers
	Case-Control Studies
	Child
	Child, Preschool
	Exodeoxyribonucleases -- genetics
	Female
	Gene Expression Regulation
	Genetic Heterogeneity
	Genotype
	Humans
	Infant
	Interferon Type I -- blood -- cerebrospinal fluid -- immunology -- physiology
	Male
	Monomeric GTP-Binding Proteins -- genetics
	Mutation
	Nervous System Malformations -- genetics -- metabolism
	Neutralization Tests
	Phosphoproteins -- genetics
	Prospective Studies
	RNA, Messenger -- biosynthesis
	RNA-Binding Proteins
	Ribonuclease H -- genetics
	SAM Domain and HD Domain-Containing Protein 1
	Up-Regulation
	Young Adult
Langue:	Anglais
Identificateurs:	urn:issn:1474-4422
	info:doi/10.1016/S1474-4422(13)70258-8
	info:pii/S1474-4422(13)70258-8
	info:pmid/24183309
	PMC4349523