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Page 1
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R. Brehm A, et al. Among authors: torrelo a. J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. J Clin Invest. 2015. PMID: 26524591 Free PMC article.
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, de Jesus AA, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R. Brehm A, et al. Among authors: torrelo a. J Clin Invest. 2016 Feb;126(2):795. doi: 10.1172/JCI86020. Epub 2016 Feb 1. J Clin Invest. 2016. PMID: 26829627 Free PMC article. No abstract available.
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A. Liu Y, et al. Among authors: torrelo a. Arthritis Rheum. 2012 Mar;64(3):895-907. doi: 10.1002/art.33368. Arthritis Rheum. 2012. PMID: 21953331 Free PMC article.
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
Molho-Pessach V, Suarez J, Perrin C, Chiaverini C, Doviner V, Tristan-Clavijo E, Colmenero I, Giuliano F, Torrelo A, Zlotogorski A. Molho-Pessach V, et al. Among authors: torrelo a. J Dermatol Sci. 2010 Jan;57(1):59-61. doi: 10.1016/j.jdermsci.2009.09.011. Epub 2009 Nov 3. J Dermatol Sci. 2010. PMID: 19889517 No abstract available.
Imbalance in T-Helper 17 Cells and Targeted Therapy in an Infant with SAM-like Syndrome.
Hernández-Martín A, Kennedy-Batalla R, Cañedo E, Bernaldo-de-Quirós E, Carazo-Gallego B, Vera A, Torrelo A, Noguera-Morel L, González-Sarmiento R, Bolling M, Martínez-Bonet M, Pion M, Correa-Rocha R. Hernández-Martín A, et al. Among authors: torrelo a. N Engl J Med. 2019 Nov 28;381(22):2176-2178. doi: 10.1056/NEJMc1908531. N Engl J Med. 2019. PMID: 31774967 No abstract available.
Recurrent lipoatrophic panniculitis of children.
Torrelo A, Noguera-Morel L, Hernández-Martín A, Clemente D, Barja JM, Buzón L, Azorín D, de Jesús AA, López-Robledillo JC, Colmenero I, Kutzner H, Goldbach-Mansky R, Requena L. Torrelo A, et al. J Eur Acad Dermatol Venereol. 2017 Mar;31(3):536-543. doi: 10.1111/jdv.13858. Epub 2016 Aug 12. J Eur Acad Dermatol Venereol. 2017. PMID: 27515780
350 results