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Items: 1 to 20 of 85

1.

RNASEH2B Related Adult-Onset Interferonopathy.

Briggs TA, Paul A, Rice G, Herrick AL.

J Clin Immunol. 2019 Aug;39(6):620-622. doi: 10.1007/s10875-019-00673-w. Epub 2019 Jul 31. No abstract available.

PMID:
31367981
2.

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. doi: 10.1007/s00401-017-1774-y. Epub 2017 Oct 13.

3.

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

Ostergaard E, Joensen F, Sundberg K, Duno M, Hansen FJ, Batbayli M, Sørensen N, Born AP.

Acta Paediatr. 2012 Nov;101(11):e509-13. doi: 10.1111/j.1651-2227.2012.02807.x. Epub 2012 Sep 5.

PMID:
22882256
4.

Astrocytes, an active player in Aicardi-Goutières syndrome.

Sase S, Takanohashi A, Vanderver A, Almad A.

Brain Pathol. 2018 May;28(3):399-407. doi: 10.1111/bpa.12600. Review.

PMID:
29740948
5.

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI.

Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22.

PMID:
25243380
6.
7.

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Buers I, Rice GI, Crow YJ, Rutsch F.

J Interferon Cytokine Res. 2017 May;37(5):214-219. doi: 10.1089/jir.2017.0004. Review.

8.

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. Epub 2007 Sep 4.

9.

STING-associated vasculopathy with onset in infancy--a new interferonopathy.

Crow YJ, Casanova JL.

N Engl J Med. 2014 Aug 7;371(6):568-71. doi: 10.1056/NEJMe1407246. Epub 2014 Jul 16. No abstract available.

PMID:
25029336
10.

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C.

J Clin Med. 2019 May 26;8(5). pii: E750. doi: 10.3390/jcm8050750.

11.

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. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20.

12.

Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.

Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM.

Nucleic Acids Res. 2009 Jan;37(1):96-110. doi: 10.1093/nar/gkn913. Epub 2008 Nov 16.

13.

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 Jr, 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. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

14.

Type I interferonopathy in a young adult.

Manoussakis MN, Mavragani CP, Nezos A, Zampeli E, Germenis A, Moutsopoulos HM.

Rheumatology (Oxford). 2017 Dec 1;56(12):2241-2243. doi: 10.1093/rheumatology/kex316. No abstract available.

PMID:
28968819
15.

Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy.

Meesilpavikkai K, Dik WA, Schrijver B, van Helden-Meeuwsen CG, Versnel MA, van Hagen PM, Bijlsma EK, Ruivenkamp CAL, Oele MJ, Dalm VASH.

Arthritis Rheumatol. 2019 May;71(5):829-831. doi: 10.1002/art.40805. Epub 2019 Mar 6. No abstract available.

16.

JAK inhibition in STING-associated interferonopathy.

Rodero MP, Frémond ML, Rice GI, Neven B, Crow YJ.

Ann Rheum Dis. 2016 Dec;75(12):e75. doi: 10.1136/annrheumdis-2016-210504. Epub 2016 Oct 12. No abstract available.

PMID:
27733349
17.

DNA-Sensing and Nuclease Gene Expressions as Markers for Colorectal Cancer Progression.

Yang CA, Huang HY, Chang YS, Lin CL, Lai IL, Chang JG.

Oncology. 2017;92(2):115-124. doi: 10.1159/000452281. Epub 2016 Dec 17.

PMID:
27988520
18.

RNASEH2B Pathogenic Gene Variant in Uncomplicated Hereditary Spastic Paraplegia: Report of a New Patient.

Spagnoli C, Frattini D, Salerno GG, Fusco C.

Neuropediatrics. 2018 Dec;49(6):419. doi: 10.1055/s-0038-1672174. Epub 2018 Sep 17.

PMID:
30223285
19.

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.

Galli J, Gavazzi F, De Simone M, Giliani S, Garau J, Valente M, Vairo D, Cattalini M, Mortilla M, Andreoli L, Badolato R, Bianchi M, Carabellese N, Cereda C, Ferraro R, Facchetti F, Fredi M, Gualdi G, Lorenzi L, Meini A, Orcesi S, Tincani A, Zanola A, Rice G, Fazzi E; AGS study group.

Medicine (Baltimore). 2018 Dec;97(52):e13893. doi: 10.1097/MD.0000000000013893.

20.

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

Tüngler V, König N, Günther C, Engel K, Fiehn C, Smitka M, von der Hagen M, Berner R, Lee-Kirsch MA.

Ann Rheum Dis. 2016 Dec;75(12):e76. doi: 10.1136/annrheumdis-2016-210565. Epub 2016 Nov 3. No abstract available.

PMID:
27811148

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