243 related articles for article (PubMed ID: 32524323)
1. Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report.
Wu CC; Peng SS; Lee WT
Neurol Sci; 2020 Nov; 41(11):3353-3356. PubMed ID: 32524323
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.
Olivieri I; Cattalini M; Tonduti D; La Piana R; Uggetti C; Galli J; Meini A; Tincani A; Moratto D; Fazzi E; Balottin U; Orcesi S
Lupus; 2013 Sep; 22(10):1064-9. PubMed ID: 23918923
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.
Tüngler V; Silver RM; Walkenhorst H; Günther C; Lee-Kirsch MA
Br J Dermatol; 2012 Jul; 167(1):212-4. PubMed ID: 22356656
[No Abstract] [Full Text] [Related]
6. Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
Tumienė B; Voisin N; Preikšaitienė E; Petroška D; Grikinienė J; Samaitienė R; Utkus A; Reymond A; Kučinskas V
Eur J Med Genet; 2017 Mar; 60(3):154-158. PubMed ID: 28089741
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.
Li P; Du J; Goodier JL; Hou J; Kang J; Kazazian HH; Zhao K; Yu XF
Nucleic Acids Res; 2017 May; 45(8):4619-4631. PubMed ID: 28334850
[TBL] [Abstract][Full Text] [Related]
10. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
Abe J; Izawa K; Nishikomori R; Awaya T; Kawai T; Yasumi T; Hiragi N; Hiragi T; Ohshima Y; Heike T
Rheumatology (Oxford); 2013 Feb; 52(2):406-8. PubMed ID: 22829693
[No Abstract] [Full Text] [Related]
11. The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
Orebaugh CD; Fye JM; Harvey S; Hollis T; Perrino FW
J Biol Chem; 2011 Nov; 286(46):40246-54. PubMed ID: 21937424
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.
Ferraro RM; Lanzi G; Masneri S; Barisani C; Piovani G; Savio G; Cattalini M; Galli J; Cereda C; Muzi-Falconi M; Orcesi S; Fazzi E; Giliani S
Stem Cell Res; 2019 Dec; 41():101580. PubMed ID: 31644995
[TBL] [Abstract][Full Text] [Related]
14. Aicardi-Goutières syndrome.
Crow YJ
Handb Clin Neurol; 2013; 113():1629-35. PubMed ID: 23622384
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.
Abraham SSC; Yoganathan S; Koshy B; Oommen SP; Simon A; Mathai S; Korula S; Mathew L; Sathishkumar D; Jasper A; George R; Danda S
Eur J Med Genet; 2021 Sep; 64(9):104291. PubMed ID: 34303877
[TBL] [Abstract][Full Text] [Related]
16. Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome.
Yi C; Li Q; Xiao J
Pediatr Rheumatol Online J; 2020 Apr; 18(1):32. PubMed ID: 32293470
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
Ji T; Wang J; Li H; Zhao L; Sang Y; Wu Y
Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):822-7. PubMed ID: 25582466
[TBL] [Abstract][Full Text] [Related]
19. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.
La Piana R; Uggetti C; Roncarolo F; Vanderver A; Olivieri I; Tonduti D; Helman G; Balottin U; Fazzi E; Crow YJ; Livingston J; Orcesi S
Neurology; 2016 Jan; 86(1):28-35. PubMed ID: 26581299
[TBL] [Abstract][Full Text] [Related]
20. Human disease phenotypes associated with mutations in TREX1.
Rice GI; Rodero MP; Crow YJ
J Clin Immunol; 2015 Apr; 35(3):235-43. PubMed ID: 25731743
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]