426 related articles for article (PubMed ID: 27643693)
1. 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]
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. 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]
4. 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]
5. Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1).
Fuchs NV; Schieck M; Neuenkirch M; Tondera C; Schmitz H; Wendeburg L; Steinemann D; Elpers C; Rutsch F; König R
Stem Cell Res; 2020 Mar; 43():101697. PubMed ID: 32062129
[TBL] [Abstract][Full Text] [Related]
6. Neuropathological Findings in a Case of
Gilani A; Adang LA; Vanderver A; Collins A; Kleinschmidt-DeMasters BK
Pediatr Dev Pathol; 2019; 22(6):566-570. PubMed ID: 30952201
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.
Wang W; Wang W; He TY; Zou LP; Li WD; Yu ZX; Ma MS; Yang J; Song HM
World J Pediatr; 2022 Jul; 18(7):490-497. PubMed ID: 35551623
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Characterisation of Aicardi-Goutières syndrome.
Krägeloh-Mann I
Lancet Neurol; 2013 Dec; 12(12):1131-2. PubMed ID: 24183310
[No Abstract] [Full Text] [Related]
13. 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]
14. Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
Lu M; Zhu K; Zheng Q; Ma X; Zou L
Am J Med Genet A; 2021 Oct; 185(10):3146-3152. PubMed ID: 34189822
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.
Straussberg R; Marom D; Sanado-Inbar E; Lakovsky Y; Horev G; Shalev SA; Lev D; Lerman-Sagie T; Leshinsky-Silver E
J Child Neurol; 2015 Mar; 30(4):490-5. PubMed ID: 25246298
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
La Piana R; Uggetti C; Olivieri I; Tonduti D; Balottin U; Fazzi E; Orcesi S
Am J Med Genet A; 2014 Mar; 164A(3):815-9. PubMed ID: 24376015
[TBL] [Abstract][Full Text] [Related]
20. LINE1 contributes to autoimmunity through both RIG-I- and MDA5-mediated RNA sensing pathways.
Zhao K; Du J; Peng Y; Li P; Wang S; Wang Y; Hou J; Kang J; Zheng W; Hua S; Yu XF
J Autoimmun; 2018 Jun; 90():105-115. PubMed ID: 29525183
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
