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Quoted phrase not found in phrase index: "Singleton-Merten syndrome 2"
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Type I interferonopathies in pediatric rheumatology.
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M. Volpi S, et al. Pediatr Rheumatol Online J. 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. Pediatr Rheumatol Online J. 2016. PMID: 27260006 Free PMC article. Review.
Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-beta and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopa …
Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in diseas …
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS. Jang MA, et al. Am J Hum Genet. 2015 Feb 5;96(2):266-74. doi: 10.1016/j.ajhg.2014.11.019. Epub 2015 Jan 22. Am J Hum Genet. 2015. PMID: 25620203 Free PMC article.
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. ...Cys268 and Glu373 residues of DDX58 belong to ATP-bin …
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aorti …
Calcification Induced by Type I Interferon in Human Aortic Valve Interstitial Cells Is Larger in Males and Blunted by a Janus Kinase Inhibitor.
Parra-Izquierdo I, Castaños-Mollor I, López J, Gómez C, San Román JA, Sánchez Crespo M, García-Rodríguez C. Parra-Izquierdo I, et al. Arterioscler Thromb Vasc Biol. 2018 Sep;38(9):2148-2159. doi: 10.1161/ATVBAHA.118.311504. Arterioscler Thromb Vasc Biol. 2018. PMID: 30026273
An unanticipated pathogenetic clue involving IFN (interferon) was disclosed by the finding of constitutive type I IFN activity associated with aortic valve calcification in children with the atypical Singleton-Merten syndrome. On this basis, the role of type …
An unanticipated pathogenetic clue involving IFN (interferon) was disclosed by the finding of constitutive type I IFN activity associated wi …