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Quoted phrase not found in phrase index: "Singleton-Merten syndrome 1"
Page 1
Hereditary Disorders of Cardiovascular Calcification.
Rutsch F, Buers I, Nitschke Y. Rutsch F, et al. Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):35-47. doi: 10.1161/ATVBAHA.120.315577. Epub 2020 Nov 12. Arterioscler Thromb Vasc Biol. 2021. PMID: 33176451 Free article. Review.
These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) interferonopathies, and (3) Gaucher disease. ...
These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered pu …
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arter …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased ext …
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.
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
Yu ZX, Song HM. Yu ZX, et al. World J Pediatr. 2020 Feb;16(1):44-51. doi: 10.1007/s12519-019-00273-z. Epub 2019 Aug 3. World J Pediatr. 2020. PMID: 31377974 Review.
RESULTS: Type I interferonopathies include Aicardi-Goutieres syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of interferon genes-associated vasculopathy with onset in infancy, X-linked reticulate pigmentary disorder, ubiquitin-specific peptidase 18 def …
RESULTS: Type I interferonopathies include Aicardi-Goutieres syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of …
Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model.
Emralino FL, Satoh S, Sakai N, Takami M, Takeuchi F, Yan N, Rutsch F, Fujita T, Kato H. Emralino FL, et al. J Immunol. 2022 Dec 1;209(11):2093-2103. doi: 10.4049/jimmunol.2200367. J Immunol. 2022. PMID: 36426976
Gain-of-function mutations in the viral dsRNA sensor melanoma differentiation-associated protein 5 (MDA5) lead to autoimmune IFNopathies, including Singleton-Merten syndrome (SMS) and Aicardi-Goutieres syndrome. However, much remains unclear regarding the mec …
Gain-of-function mutations in the viral dsRNA sensor melanoma differentiation-associated protein 5 (MDA5) lead to autoimmune IFNopathies, in …