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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, 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: zlotogorski 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.
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: zlotogorski 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.
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: zlotogorski a. Arthritis Rheum. 2012 Mar;64(3):895-907. doi: 10.1002/art.33368. Arthritis Rheum. 2012. PMID: 21953331 Free PMC article.
Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome.
Torrelo A, Colmenero I, Requena L, Paller AS, Ramot Y, Richard Lee CC, Vera A, Zlotogorski A, Goldbach-Mansky R, Kutzner H. Torrelo A, et al. Among authors: zlotogorski a. Am J Dermatopathol. 2015 Jul;37(7):517-22. doi: 10.1097/DAD.0000000000000340. Am J Dermatopathol. 2015. PMID: 26091509 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: zlotogorski 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.
Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib.
Jabbari A, Dai Z, Xing L, Cerise JE, Ramot Y, Berkun Y, Sanchez GA, Goldbach-Mansky R, Christiano AM, Clynes R, Zlotogorski A. Jabbari A, et al. Among authors: zlotogorski a. EBioMedicine. 2015 Feb 26;2(4):351-5. doi: 10.1016/j.ebiom.2015.02.015. eCollection 2015 Apr. EBioMedicine. 2015. PMID: 26137574 Free PMC article.
STAT1 gain-of-function and chronic demodicosis.
Molho-Pessach V, Meltser A, Kamshov A, Ramot Y, Zlotogorski A. Molho-Pessach V, et al. Among authors: zlotogorski a. Pediatr Dermatol. 2020 Jan;37(1):153-155. doi: 10.1111/pde.14011. Epub 2019 Oct 21. Pediatr Dermatol. 2020. PMID: 31637766
The twisting tale of woolly hair: a trait with many causes.
Ramot Y, Zlotogorski A. Ramot Y, et al. Among authors: zlotogorski a. J Med Genet. 2015 Apr;52(4):217-23. doi: 10.1136/jmedgenet-2014-102630. Epub 2015 Jan 5. J Med Genet. 2015. PMID: 25561463 Review.
213 results