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Results: 1 to 20 of 42

1.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Rice GI, del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ.

Nat Genet. 2014 May;46(5):503-9. doi: 10.1038/ng.2933. Epub 2014 Mar 30.

PMID:
24686847
[PubMed - indexed for MEDLINE]
2.

The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.

Fye JM, Coffin SR, Orebaugh CD, Hollis T, Perrino FW.

J Biol Chem. 2014 Apr 18;289(16):11556-65. doi: 10.1074/jbc.M114.559252. Epub 2014 Mar 9.

PMID:
24616097
[PubMed - indexed for MEDLINE]
3.

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases.

Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B.

J Immunol. 2014 Mar 15;192(6):2551-63. doi: 10.4049/jimmunol.1302884. Epub 2014 Feb 7.

PMID:
24510966
[PubMed - indexed for MEDLINE]
4.

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

Clifford R, Louis T, Robbe P, Ackroyd S, Burns A, Timbs AT, Wright Colopy G, Dreau H, Sigaux F, Judde JG, Rotger M, Telenti A, Lin YL, Pasero P, Maelfait J, Titsias M, Cohen DR, Henderson SJ, Ross MT, Bentley D, Hillmen P, Pettitt A, Rehwinkel J, Knight SJ, Taylor JC, Crow YJ, Benkirane M, Schuh A.

Blood. 2014 Feb 13;123(7):1021-31. doi: 10.1182/blood-2013-04-490847. Epub 2013 Dec 12.

PMID:
24335234
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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. doi: 10.1093/rheumatology/ket372. Epub 2013 Dec 3.

PMID:
24300241
[PubMed - indexed for MEDLINE]
6.

The exonuclease Trex1 restrains macrophage proinflammatory activation.

Pereira-Lopes S, Celhar T, Sans-Fons G, Serra M, Fairhurst AM, Lloberas J, Celada A.

J Immunol. 2013 Dec 15;191(12):6128-35. doi: 10.4049/jimmunol.1301603. Epub 2013 Nov 11.

PMID:
24218451
[PubMed - indexed for MEDLINE]
7.

Characterisation of Aicardi-Goutières syndrome.

Krägeloh-Mann I.

Lancet Neurol. 2013 Dec;12(12):1131-2. doi: 10.1016/S1474-4422(13)70262-X. Epub 2013 Oct 30. No abstract available.

PMID:
24183310
[PubMed - indexed for MEDLINE]
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 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.

PMID:
24183309
[PubMed - indexed for MEDLINE]
9.

SAMHD1 host restriction factor: a link with innate immune sensing of retrovirus infection.

Sze A, Olagnier D, Lin R, van Grevenynghe J, Hiscott J.

J Mol Biol. 2013 Dec 13;425(24):4981-94. doi: 10.1016/j.jmb.2013.10.022. Epub 2013 Oct 23. Review.

PMID:
24161438
[PubMed - indexed for MEDLINE]
10.

Mechanism of allosteric activation of SAMHD1 by dGTP.

Ji X, Wu Y, Yan J, Mehrens J, Yang H, DeLucia M, Hao C, Gronenborn AM, Skowronski J, Ahn J, Xiong Y.

Nat Struct Mol Biol. 2013 Nov;20(11):1304-9. doi: 10.1038/nsmb.2692. Epub 2013 Oct 20.

PMID:
24141705
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.

Zhao K, Du J, Han X, Goodier JL, Li P, Zhou X, Wei W, Evans SL, Li L, Zhang W, Cheung LE, Wang G, Kazazian HH Jr, Yu XF.

Cell Rep. 2013 Sep 26;4(6):1108-15. doi: 10.1016/j.celrep.2013.08.019. Epub 2013 Sep 12.

PMID:
24035396
[PubMed - indexed for MEDLINE]
Free Article
12.

The TREX1 C-terminal region controls cellular localization through ubiquitination.

Orebaugh CD, Fye JM, Harvey S, Hollis T, Wilkinson JC, Perrino FW.

J Biol Chem. 2013 Oct 4;288(40):28881-92. doi: 10.1074/jbc.M113.503391. Epub 2013 Aug 26.

PMID:
23979357
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1177/0961203313498800. Epub 2013 Aug 5.

PMID:
23918923
[PubMed - indexed for MEDLINE]
14.

Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.

Lee-Kirsch MA, Wolf C, Günther C.

Clin Exp Immunol. 2014 Jan;175(1):17-24. doi: 10.1111/cei.12160. Review.

PMID:
23786362
[PubMed - indexed for MEDLINE]
15.

Aicardi-Goutières syndrome: clues from the RNase H2 knock-out mouse.

Rabe B.

J Mol Med (Berl). 2013 Nov;91(11):1235-40. doi: 10.1007/s00109-013-1061-x. Epub 2013 Jun 7. Review.

PMID:
23744109
[PubMed - indexed for MEDLINE]
16.

Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.

Behrendt R, Roers A.

Clin Exp Immunol. 2014 Jan;175(1):9-16. doi: 10.1111/cei.12147. Review.

PMID:
23713592
[PubMed - indexed for MEDLINE]
17.

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.

Troedson C, Wong M, Dalby-Payne J, Wilson M, Dexter M, Rice GI, Crow YJ, Dale RC.

Lupus. 2013 May;22(6):639-43. doi: 10.1177/0961203313486950. Epub 2013 May 7.

PMID:
23651859
[PubMed - indexed for MEDLINE]
18.

Aicardi-Goutières syndrome.

Crow YJ.

Handb Clin Neurol. 2013;113:1629-35. doi: 10.1016/B978-0-444-59565-2.00031-9. Review.

PMID:
23622384
[PubMed - indexed for MEDLINE]
19.

Therapies in Aicardi-Goutières syndrome.

Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI.

Clin Exp Immunol. 2014 Jan;175(1):1-8. doi: 10.1111/cei.12115. Review.

PMID:
23607857
[PubMed - indexed for MEDLINE]
20.

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ.

Hum Mutat. 2013 Aug;34(8):1066-70. doi: 10.1002/humu.22336. Epub 2013 May 13.

PMID:
23592335
[PubMed - indexed for MEDLINE]

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