Literature DB >> 26829627

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Anja Brehm, Yin Liu, Afzal Sheikh, Bernadette Marrero, Ebun Omoyinmi, Qing Zhou, Gina Montealegre, Angelique Biancotto, Adam Reinhardt, Adriana Almeida de Jesus, Martin Pelletier, Wanxia L Tsai, Elaine F Remmers, Lela Kardava, Suvimol Hill, Hanna Kim, Helen J Lachmann, Andre Megarbane, Jae Jin Chae, Jilian Brady, Rhina D Castillo, Diane Brown, Angel Vera Casano, Ling Gao, Dawn Chapelle, Yan Huang, Deborah Stone, Yongqing Chen, Franziska Sotzny, Chyi-Chia Richard Lee, Daniel L Kastner, Antonio Torrelo, Abraham Zlotogorski, Susan Moir, Massimo Gadina, Phil McCoy, Robert Wesley, Kristina I Rother, Peter W Hildebrand, Paul Brogan, Elke Krüger, Ivona Aksentijevich, Raphaela Goldbach-Mansky.   

Abstract

Entities:  

Year:  2016        PMID： 26829627      PMCID： PMC4731187          DOI： 10.1172/JCI86020

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  11 in total

1.  Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

Authors:  David Buchbinder; Gina A Montealegre Sanchez; Raphaela Goldbach-Mansky; Hermine Brunner; Andrew I Shulman
Journal:  Arthritis Care Res (Hoboken)       Date:  2018-04-02       Impact factor: 4.794

Review 2.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

Review 3.  Dermatologic Manifestations of Monogenic Autoinflammatory Diseases.

Authors:  Kyawt Win Shwin; Chyi-Chia Richard Lee; Raphaela Goldbach-Mansky
Journal:  Dermatol Clin       Date:  2017-01       Impact factor: 3.478

4.  Type I interferon activation and endothelial dysfunction in caveolin-1 insufficiency-associated pulmonary arterial hypertension.

Authors:  Salina Gairhe; Keytam S Awad; Edward J Dougherty; Gabriela A Ferreyra; Shuibang Wang; Zu-Xi Yu; Kazuyo Takeda; Cumhur Y Demirkale; Parizad Torabi-Parizi; Eric D Austin; Jason M Elinoff; Robert L Danner
Journal:  Proc Natl Acad Sci U S A       Date:  2021-03-16       Impact factor: 11.205

5.  HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease.

Authors:  Caridad Martinez; Frédéric Ebstein; Sarah K Nicholas; Marietta De Guzman; Lisa R Forbes; Ottavia M Delmonte; Marita Bosticardo; Riccardo Castagnoli; Robert Krance; Luigi D Notarangelo; Elke Krüger; Jordan S Orange; M Cecilia Poli
Journal:  Blood       Date:  2021-11-11       Impact factor: 25.476

Review 6.  Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Authors:  Davide Martorana; Francesco Bonatti; Paola Mozzoni; Augusto Vaglio; Antonio Percesepe
Journal:  Front Immunol       Date:  2017-04-03       Impact factor: 7.561

7.  Defective immuno- and thymoproteasome assembly causes severe immunodeficiency.

Authors:  Irina Treise; Eva M Huber; Tanja Klein-Rodewald; Wolfgang Heinemeyer; Simon A Grassmann; Michael Basler; Thure Adler; Birgit Rathkolb; Laura Helming; Christian Andres; Matthias Klaften; Christina Landbrecht; Thomas Wieland; Tim M Strom; Kathy D McCoy; Andrew J Macpherson; Eckhard Wolf; Marcus Groettrup; Markus Ollert; Frauke Neff; Valerie Gailus-Durner; Helmut Fuchs; Martin Hrabě de Angelis; Michael Groll; Dirk H Busch
Journal:  Sci Rep       Date:  2018-04-13       Impact factor: 4.379

8.  Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress.

Authors:  Fumiko Honda-Ozaki; Madoka Terashima; Akira Niwa; Norikazu Saiki; Yuri Kawasaki; Haruna Ito; Akitsu Hotta; Ayako Nagahashi; Koichi Igura; Isao Asaka; Hongmei Lisa Li; Masakatsu Yanagimachi; Fukumi Furukawa; Nobuo Kanazawa; Tatsutoshi Nakahata; Megumu K Saito
Journal:  Stem Cell Reports       Date:  2018-05-03       Impact factor: 7.765

Review 9.  The Role of Cutaneous Type I IFNs in Autoimmune and Autoinflammatory Diseases.

Authors:  Jessica L Turnier; J Michelle Kahlenberg
Journal:  J Immunol       Date:  2020-12-01       Impact factor: 5.422

Review 10.  The Functional and Mechanistic Roles of Immunoproteasome Subunits in Cancer.

Authors:  Satyendra Chandra Tripathi; Disha Vedpathak; Edwin Justin Ostrin
Journal:  Cells       Date:  2021-12-20       Impact factor: 6.600
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