585 related articles for article (PubMed ID: 24183309)
1. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI; Forte GM; Szynkiewicz M; Chase DS; Aeby A; Abdel-Hamid MS; Ackroyd S; Allcock R; Bailey KM; Balottin U; Barnerias C; Bernard G; Bodemer C; Botella MP; Cereda C; Chandler KE; Dabydeen L; Dale RC; De Laet C; De Goede CG; Del Toro M; Effat L; Enamorado NN; Fazzi E; Gener B; Haldre M; Lin JP; Livingston JH; Lourenco CM; Marques W; Oades P; Peterson P; Rasmussen M; Roubertie A; Schmidt JL; Shalev SA; Simon R; Spiegel R; Swoboda KJ; Temtamy SA; Vassallo G; Vilain CN; Vogt J; Wermenbol V; Whitehouse WP; Soler D; Olivieri I; Orcesi S; Aglan MS; Zaki MS; Abdel-Salam GM; Vanderver A; Kisand K; Rozenberg F; Lebon P; Crow YJ
Lancet Neurol; 2013 Dec; 12(12):1159-69. PubMed ID: 24183309
[TBL] [Abstract][Full Text] [Related]
2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ; Chase DS; Lowenstein Schmidt J; Szynkiewicz M; Forte GM; Gornall HL; Oojageer A; Anderson B; Pizzino A; Helman G; Abdel-Hamid MS; Abdel-Salam GM; Ackroyd S; Aeby A; Agosta G; Albin C; Allon-Shalev S; Arellano M; Ariaudo G; Aswani V; Babul-Hirji R; Baildam EM; Bahi-Buisson N; Bailey KM; Barnerias C; Barth M; Battini R; Beresford MW; Bernard G; Bianchi M; Billette de Villemeur T; Blair EM; Bloom M; Burlina AB; Carpanelli ML; Carvalho DR; Castro-Gago M; Cavallini A; Cereda C; Chandler KE; Chitayat DA; Collins AE; Sierra Corcoles C; Cordeiro NJ; Crichiutti G; Dabydeen L; Dale RC; D'Arrigo S; De Goede CG; De Laet C; De Waele LM; Denzler I; Desguerre I; Devriendt K; Di Rocco M; Fahey MC; Fazzi E; Ferrie CD; Figueiredo A; Gener B; Goizet C; Gowrinathan NR; Gowrishankar K; Hanrahan D; Isidor B; Kara B; Khan N; King MD; Kirk EP; Kumar R; Lagae L; Landrieu P; Lauffer H; Laugel V; La Piana R; Lim MJ; Lin JP; Linnankivi T; Mackay MT; Marom DR; Marques Lourenço C; McKee SA; Moroni I; Morton JE; Moutard ML; Murray K; Nabbout R; Nampoothiri S; Nunez-Enamorado N; Oades PJ; Olivieri I; Ostergaard JR; Pérez-Dueñas B; Prendiville JS; Ramesh V; Rasmussen M; Régal L; Ricci F; Rio M; Rodriguez D; Roubertie A; Salvatici E; Segers KA; Sinha GP; Soler D; Spiegel R; Stödberg TI; Straussberg R; Swoboda KJ; Suri M; Tacke U; Tan TY; te Water Naude J; Wee Teik K; Thomas MM; Till M; Tonduti D; Valente EM; Van Coster RN; van der Knaap MS; Vassallo G; Vijzelaar R; Vogt J; Wallace GB; Wassmer E; Webb HJ; Whitehouse WP; Whitney RN; Zaki MS; Zuberi SM; Livingston JH; Rozenberg F; Lebon P; Vanderver A; Orcesi S; Rice GI
Am J Med Genet A; 2015 Feb; 167A(2):296-312. PubMed ID: 25604658
[TBL] [Abstract][Full Text] [Related]
3. Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
Livingston JH; Crow YJ
Neuropediatrics; 2016 Dec; 47(6):355-360. PubMed ID: 27643693
[TBL] [Abstract][Full Text] [Related]
4. Characterisation of Aicardi-Goutières syndrome.
Krägeloh-Mann I
Lancet Neurol; 2013 Dec; 12(12):1131-2. PubMed ID: 24183310
[No Abstract] [Full Text] [Related]
5. Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
Cuadrado E; Michailidou I; van Bodegraven EJ; Jansen MH; Sluijs JA; Geerts D; Couraud PO; De Filippis L; Vescovi AL; Kuijpers TW; Hol EM
J Immunol; 2015 Apr; 194(8):3623-33. PubMed ID: 25769924
[TBL] [Abstract][Full Text] [Related]
6. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP; Woidill S; Gavazzi F; Modesti NB; Sevagamoorthy A; Vanderver A; Adang L
Mol Genet Metab; 2024 May; 142(1):108346. PubMed ID: 38368708
[TBL] [Abstract][Full Text] [Related]
7. A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J; Nakamura K; Nishikomori R; Kato M; Mitsuiki N; Izawa K; Awaya T; Kawai T; Yasumi T; Toyoshima I; Hasegawa K; Ohshima Y; Hiragi T; Sasahara Y; Suzuki Y; Kikuchi M; Osaka H; Ohya T; Ninomiya S; Fujikawa S; Akasaka M; Iwata N; Kawakita A; Funatsuka M; Shintaku H; Ohara O; Ichinose H; Heike T
Rheumatology (Oxford); 2014 Mar; 53(3):448-58. PubMed ID: 24300241
[TBL] [Abstract][Full Text] [Related]
8. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Ramantani G; Kohlhase J; Hertzberg C; Innes AM; Engel K; Hunger S; Borozdin W; Mah JK; Ungerath K; Walkenhorst H; Richardt HH; Buckard J; Bevot A; Siegel C; von Stülpnagel C; Ikonomidou C; Thomas K; Proud V; Niemann F; Wieczorek D; Häusler M; Niggemann P; Baltaci V; Conrad K; Lebon P; Lee-Kirsch MA
Arthritis Rheum; 2010 May; 62(5):1469-77. PubMed ID: 20131292
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G; Patrick T; Parmar R; Taylor CF; Aeby A; Aicardi J; Artuch R; Montalto SA; Bacino CA; Barroso B; Baxter P; Benko WS; Bergmann C; Bertini E; Biancheri R; Blair EM; Blau N; Bonthron DT; Briggs T; Brueton LA; Brunner HG; Burke CJ; Carr IM; Carvalho DR; Chandler KE; Christen HJ; Corry PC; Cowan FM; Cox H; D'Arrigo S; Dean J; De Laet C; De Praeter C; Dery C; Ferrie CD; Flintoff K; Frints SG; Garcia-Cazorla A; Gener B; Goizet C; Goutieres F; Green AJ; Guet A; Hamel BC; Hayward BE; Heiberg A; Hennekam RC; Husson M; Jackson AP; Jayatunga R; Jiang YH; Kant SG; Kao A; King MD; Kingston HM; Klepper J; van der Knaap MS; Kornberg AJ; Kotzot D; Kratzer W; Lacombe D; Lagae L; Landrieu PG; Lanzi G; Leitch A; Lim MJ; Livingston JH; Lourenco CM; Lyall EG; Lynch SA; Lyons MJ; Marom D; McClure JP; McWilliam R; Melancon SB; Mewasingh LD; Moutard ML; Nischal KK; Ostergaard JR; Prendiville J; Rasmussen M; Rogers RC; Roland D; Rosser EM; Rostasy K; Roubertie A; Sanchis A; Schiffmann R; Scholl-Burgi S; Seal S; Shalev SA; Corcoles CS; Sinha GP; Soler D; Spiegel R; Stephenson JB; Tacke U; Tan TY; Till M; Tolmie JL; Tomlin P; Vagnarelli F; Valente EM; Van Coster RN; Van der Aa N; Vanderver A; Vles JS; Voit T; Wassmer E; Weschke B; Whiteford ML; Willemsen MA; Zankl A; Zuberi SM; Orcesi S; Fazzi E; Lebon P; Crow YJ
Am J Hum Genet; 2007 Oct; 81(4):713-25. PubMed ID: 17846997
[TBL] [Abstract][Full Text] [Related]
10. Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.
Wang BX; Grover SA; Kannu P; Yoon G; Laxer RM; Yeh EA; Fish EN
J Interferon Cytokine Res; 2017 Apr; 37(4):147-152. PubMed ID: 28387595
[TBL] [Abstract][Full Text] [Related]
11. Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.
Guo X; Wiley CA; Steinman RA; Sheng Y; Ji B; Wang J; Zhang L; Wang T; Zenatai M; Billiar TR; Wang Q
J Neuroinflammation; 2021 Jul; 18(1):169. PubMed ID: 34332594
[TBL] [Abstract][Full Text] [Related]
12. Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
Beyer U; Brand F; Martens H; Weder J; Christians A; Elyan N; Hentschel B; Westphal M; Schackert G; Pietsch T; Hong B; Krauss JK; Samii A; Raab P; Das A; Dumitru CA; Sandalcioglu IE; Hakenberg OW; Erbersdobler A; Lehmann U; Reifenberger G; Weller M; Reijns MAM; Preller M; Wiese B; Hartmann C; Weber RG
Acta Neuropathol; 2017 Dec; 134(6):905-922. PubMed ID: 29030706
[TBL] [Abstract][Full Text] [Related]
13. PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Bamborschke D; Kreutzer M; Koy A; Koerber F; Lucas N; Huenseler C; Herkenrath P; Lee-Kirsch MA; Cirak S
Brain Dev; 2021 Feb; 43(2):320-324. PubMed ID: 33158637
[TBL] [Abstract][Full Text] [Related]
14. SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Goncalves A; Karayel E; Rice GI; Bennett KL; Crow YJ; Superti-Furga G; Bürckstümmer T
Hum Mutat; 2012 Jul; 33(7):1116-22. PubMed ID: 22461318
[TBL] [Abstract][Full Text] [Related]
15. Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
Liu A; Ying S
Scand J Immunol; 2023 Oct; 98(4):e13314. PubMed ID: 37515439
[TBL] [Abstract][Full Text] [Related]
16. Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue T; Orsini JJ; Takanohashi A; Gavazzi F; Conant A; Ulrick N; Morrissey MA; Nahhas N; Helman G; Gordish-Dressman H; Orcesi S; Tonduti D; Stutterd C; van Haren K; Toro C; Iglesias AD; van der Knaap MS; Goldbach Mansky R; Moser AB; Jones RO; Vanderver A
Mol Genet Metab; 2017 Nov; 122(3):134-139. PubMed ID: 28739201
[TBL] [Abstract][Full Text] [Related]
17. Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect.
He T; Xia Y; Yang J
Pediatr Rheumatol Online J; 2021 Jan; 19(1):9. PubMed ID: 33482855
[TBL] [Abstract][Full Text] [Related]
18. SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla AR; Pinard A; Boerio ML; Hemelsoet D; Tavernier SJ; De Pauw M; Vereecke E; Fraser S; Bamshad MJ; Guo D; Callewaert B; Milewicz DM
Am J Med Genet A; 2024 Apr; 194(4):e63486. PubMed ID: 38041217
[TBL] [Abstract][Full Text] [Related]
19. SAMHD1 prevents autoimmunity by maintaining genome stability.
Kretschmer S; Wolf C; König N; Staroske W; Guck J; Häusler M; Luksch H; Nguyen LA; Kim B; Alexopoulou D; Dahl A; Rapp A; Cardoso MC; Shevchenko A; Lee-Kirsch MA
Ann Rheum Dis; 2015 Mar; 74(3):e17. PubMed ID: 24445253
[TBL] [Abstract][Full Text] [Related]
20. Astrocytes, an active player in Aicardi-Goutières syndrome.
Sase S; Takanohashi A; Vanderver A; Almad A
Brain Pathol; 2018 May; 28(3):399-407. PubMed ID: 29740948
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
