J
Joseph R. Fontana
Researcher at National Institutes of Health
Publications - 2
Citations - 979
Joseph R. Fontana is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Janus kinase & STAT protein. The author has an hindex of 2, co-authored 2 publications receiving 733 citations.
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Activated STING in a Vascular and Pulmonary Syndrome
Yongmei Liu,A Almeida de Jesus,B Marrero,Dan Yang,Suzanne E. Ramsey,Suzanne E. Ramsey,G.A. Montealegre Sanchez,Klaus Tenbrock,Klaus Tenbrock,Helmut Wittkowski,Helmut Wittkowski,Olcay Y. Jones,Olcay Y. Jones,Hye Sun Kuehn,Chyi-Chia Richard Lee,Michael A. DiMattia,Edward W. Cowen,Benito Gonzalez,Ira Palmer,J.J. DiGiovanna,Angelique Biancotto,H. Kim,Wanxia L. Tsai,Anna M. Trier,Yhu Chering Huang,Deborah L. Stone,S Hill,Hanna Kim,C. St. Hilaire,Shakuntala Gurprasad,Nicole Plass,D. Chapelle,Iren Horkayne-Szakaly,Iren Horkayne-Szakaly,Dirk Foell,Dirk Foell,Andrei Barysenka,Andrei Barysenka,Fabio Candotti,Steven M. Holland,Jason D. Hughes,Jason D. Hughes,Huseyin Mehmet,Huseyin Mehmet,Andrew C. Issekutz,Andrew C. Issekutz,Mark Raffeld,Joshua J McElwee,Joshua J McElwee,Joseph R. Fontana,Caterina P. Minniti,Susan Moir,Daniel L. Kastner,Massimo Gadina,A.C. Steven,Paul T. Wingfield,Stephen R. Brooks,Sofia Rosenzweig,Thomas A. Fleisher,Zuoming Deng,Manfred Boehm,Amy S. Paller,Amy S. Paller,Raphaela Goldbach-Mansky +63 more
TL;DR: STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function mutations in TMEM173, the stimulator of interferon genes (STING), andConstitutive up-regulation of phosphorylated STAT1 in patients' lymphocytes was reduced by JAK inhibitors.
Journal ArticleDOI
Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation
Louise Malle,B Marrero,Yin Liu,G Montealegre,D. Chapelle,H. Kim,Michelle O'Brien,S Hill,Joseph R. Fontana,Suzanne E. Ramsey,Gregor Dückers,Seza Ozen,Andrew C. Issekutz,Helmut Wittkowski,Dirk Foell,Klaus Tenbrock,O Jones,Steven M. Holland,Benito Gonzalez,Paul A. Brogan,Ebun Omoyinmi,S Melo Gomes,Amy S. Paller,Zuoming Deng,R Goldback-Mansky,A Almeida de Jesus +25 more
TL;DR: Preliminary genotype-phenotype correlation in STING-associated vasculopathy with onset in infancy (SAVI) and preliminary genotypes-phenotypes correlation between STING and SAVI are reported.