681 related articles for article (PubMed ID: 19525956)
1. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI; Bond J; Asipu A; Brunette RL; Manfield IW; Carr IM; Fuller JC; Jackson RM; Lamb T; Briggs TA; Ali M; Gornall H; Couthard LR; Aeby A; Attard-Montalto SP; Bertini E; Bodemer C; Brockmann K; Brueton LA; Corry PC; Desguerre I; Fazzi E; Cazorla AG; Gener B; Hamel BC; Heiberg A; Hunter M; van der Knaap MS; Kumar R; Lagae L; Landrieu PG; Lourenco CM; Marom D; McDermott MF; van der Merwe W; Orcesi S; Prendiville JS; Rasmussen M; Shalev SA; Soler DM; Shinawi M; Spiegel R; Tan TY; Vanderver A; Wakeling EL; Wassmer E; Whittaker E; Lebon P; Stetson DB; Bonthron DT; Crow YJ
Nat Genet; 2009 Jul; 41(7):829-32. PubMed ID: 19525956
[TBL] [Abstract][Full Text] [Related]
2. Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
Ramantani G; Häusler M; Niggemann P; Wessling B; Guttmann H; Mull M; Tenbrock K; Lee-Kirsch MA
J Child Neurol; 2011 Nov; 26(11):1425-8. PubMed ID: 21670392
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Single-stranded nucleic acids promote SAMHD1 complex formation.
Tüngler V; Staroske W; Kind B; Dobrick M; Kretschmer S; Schmidt F; Krug C; Lorenz M; Chara O; Schwille P; Lee-Kirsch MA
J Mol Med (Berl); 2013 Jun; 91(6):759-70. PubMed ID: 23371319
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.
Perrino FW; Harvey S; Shaban NM; Hollis T
J Mol Med (Berl); 2009 Jan; 87(1):25-30. PubMed ID: 19034401
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
Leshinsky-Silver E; Malinger G; Ben-Sira L; Kidron D; Cohen S; Inbar S; Bezaleli T; Levine A; Vinkler C; Lev D; Lerman-Sagie T
Eur J Hum Genet; 2011 Mar; 19(3):287-92. PubMed ID: 21102625
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
Dale RC; Gornall H; Singh-Grewal D; Alcausin M; Rice GI; Crow YJ
Am J Med Genet A; 2010 Apr; 152A(4):938-42. PubMed ID: 20358604
[TBL] [Abstract][Full Text] [Related]
15. Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations.
Hänchen V; Kretschmer S; Wolf C; Engel K; Khattak S; Neumann K; Lee-Kirsch MA
Stem Cell Res; 2022 Oct; 64():102912. PubMed ID: 36115319
[TBL] [Abstract][Full Text] [Related]
16. [Research progress of the anti-HIV activity of SAMHD1].
Huang J; Qiu C; Zhang XY
Bing Du Xue Bao; 2012 Jun; 28(4):477-81. PubMed ID: 22978176
[TBL] [Abstract][Full Text] [Related]
17. Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.
Beloglazova N; Flick R; Tchigvintsev A; Brown G; Popovic A; Nocek B; Yakunin AF
J Biol Chem; 2013 Mar; 288(12):8101-8110. PubMed ID: 23364794
[TBL] [Abstract][Full Text] [Related]
18. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.
Thiele H; du Moulin M; Barczyk K; George C; Schwindt W; Nürnberg G; Frosch M; Kurlemann G; Roth J; Nürnberg P; Rutsch F
Hum Mutat; 2010 Nov; 31(11):E1836-50. PubMed ID: 20842748
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.
Behrendt R; Schumann T; Gerbaulet A; Nguyen LA; Schubert N; Alexopoulou D; Berka U; Lienenklaus S; Peschke K; Gibbert K; Wittmann S; Lindemann D; Weiss S; Dahl A; Naumann R; Dittmer U; Kim B; Mueller W; Gramberg T; Roers A
Cell Rep; 2013 Aug; 4(4):689-96. PubMed ID: 23972988
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
