Literature DB >> 34850826

Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome.

Dídac Casas-Alba1, Alejandra Darling1, Eva Caballero2, Anna Mensa-Vilaró3, Joaquim Bartrons4, Jordi Antón5, Àngels García-Cazorla6,7,8, Adeline Vanderver9, Thaís Armangué2,8,10.   

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Year:  2022        PMID: 34850826      PMCID: PMC9215962          DOI: 10.1093/rheumatology/keab860

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN: 1462-0324            Impact factor:   7.046


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  7 in total

Review 1.  Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.

Authors:  John H Livingston; Yanick J Crow
Journal:  Neuropediatrics       Date:  2016-09-19       Impact factor: 1.947

2.  Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Authors:  Thais Armangue; Joseph J Orsini; Asako Takanohashi; Francesco Gavazzi; Alex Conant; Nicole Ulrick; Mark A Morrissey; Norah Nahhas; Guy Helman; Heather Gordish-Dressman; Simona Orcesi; Davide Tonduti; Chloe Stutterd; Keith van Haren; Camilo Toro; Alejandro D Iglesias; Marjo S van der Knaap; Raphaela Goldbach Mansky; Anne B Moser; Richard O Jones; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2017-07-20       Impact factor: 4.797

3.  Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.

Authors:  Adeline Vanderver; Laura Adang; Francesco Gavazzi; Katherine McDonald; Guy Helman; David B Frank; Nicole Jaffe; Sabrina W Yum; Abigail Collins; Stephanie R Keller; Pierre Lebon; Jean-François Meritet; Jullie Rhee; Asako Takanohashi; Thais Armangue; Nicole Ulrick; Omar Sherbini; Jamie Koh; Kyle Peer; Constance Besnier; Carly Scher; Katherine Boyle; Holly Dubbs; Julia Kramer-Golinkoff; Amy Pizzino; Sarah Woidill; Justine Shults
Journal:  N Engl J Med       Date:  2020-09-03       Impact factor: 91.245

4.  Development of a Validated Interferon Score Using NanoString Technology.

Authors:  Hanna Kim; Adriana A de Jesus; Stephen R Brooks; Yin Liu; Yan Huang; Rachel VanTries; Gina A Montealegre Sanchez; Yaron Rotman; Massimo Gadina; Raphaela Goldbach-Mansky
Journal:  J Interferon Cytokine Res       Date:  2018-04       Impact factor: 2.607

5.  An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation.

Authors:  Kavitha Kothur; Sushil Bandodkar; Stephanie Chu; Louise Wienholt; Alexandra Johnson; Peter Barclay; Paul A Brogan; Gillian I Rice; Yanick J Crow; Russell C Dale
Journal:  Neurology       Date:  2018-01-10       Impact factor: 9.910

6.  cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Authors:  Alice Lepelley; Marine Depp; Andrew P Badrock; Carolina Uggenti; Mathieu P Rodero; Marie-Thérèse El-Daher; Gillian I Rice; Somdutta Dhir; Ann P Wheeler; Ashish Dhir; Waad Albawardi; Marie-Louise Frémond; Luis Seabra; Jennifer Doig; Natalie Blair; Maria José Martin-Niclos; Erika Della Mina; Alejandro Rubio-Roldán; Jose L García-Pérez; Duncan Sproul; Jan Rehwinkel; Jonny Hertzog; Anne Boland-Auge; Robert Olaso; Jean-François Deleuze; Julien Baruteau; Karine Brochard; Jonathan Buckley; Vanessa Cavallera; Cristina Cereda; Liesbeth M H De Waele; Angus Dobbie; Diane Doummar; Frances Elmslie; Margarete Koch-Hogrebe; Ram Kumar; Kate Lamb; John H Livingston; Anirban Majumdar; Charles Marques Lorenço; Simona Orcesi; Sylviane Peudenier; Kevin Rostasy; Caroline A Salmon; Christiaan Scott; Davide Tonduti; Guy Touati; Marialuisa Valente; Hélio van der Linden; Hilde Van Esch; Marie Vermelle; Kate Webb; Andrew P Jackson; Martin A M Reijns; Nick Gilbert; Yanick J Crow
Journal:  Nat Genet       Date:  2020-11-23       Impact factor: 38.330

7.  Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Authors:  Gillian I Rice; Yoandris Del Toro Duany; Emma M Jenkinson; Gabriella Ma Forte; Beverley H Anderson; Giada Ariaudo; Brigitte Bader-Meunier; Eileen M Baildam; Roberta Battini; Michael W Beresford; Manuela Casarano; Mondher Chouchane; Rolando Cimaz; Abigail E Collins; Nuno Jv Cordeiro; Russell C Dale; Joyce E Davidson; Liesbeth De Waele; Isabelle Desguerre; Laurence Faivre; Elisa Fazzi; Bertrand Isidor; Lieven Lagae; Andrew R Latchman; Pierre Lebon; Chumei Li; John H Livingston; Charles M Lourenço; Maria Margherita Mancardi; Alice Masurel-Paulet; Iain B McInnes; Manoj P Menezes; Cyril Mignot; James O'Sullivan; Simona Orcesi; Paolo P Picco; Enrica Riva; Robert A Robinson; Diana Rodriguez; Elisabetta Salvatici; Christiaan Scott; Marta Szybowska; John L Tolmie; Adeline Vanderver; Catherine Vanhulle; Jose Pedro Vieira; Kate Webb; Robyn N Whitney; Simon G Williams; Lynne A Wolfe; Sameer M Zuberi; Sun Hur; Yanick J Crow
Journal:  Nat Genet       Date:  2014-03-30       Impact factor: 38.330

  7 in total

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