Literature DB >> 30443754

JAK 1/2 Blockade in MDA5 Gain-of-Function.

Kirsty E McLellan1, Neil Martin2, Joyce E Davidson1, Nuno Cordeiro3, Bridget D Oates4, Bénédicte Neven5,6,7, Gillian I Rice8, Yanick J Crow9,10.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 30443754     DOI： 10.1007/s10875-018-0563-2

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  7 in total

1.  Neuromyelitis optica in a child with Aicardi-Goutières syndrome.

Authors:  Yael Hacohen; Sameer Zuberi; Angela Vincent; Yanick J Crow; Nuno Cordeiro
Journal:  Neurology       Date:  2015-07-01       Impact factor: 9.910

2.  Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

Authors:  Marie-Louise Frémond; Mathieu Paul Rodero; Nadia Jeremiah; Alexandre Belot; Eric Jeziorski; Darragh Duffy; Didier Bessis; Guilhem Cros; Gillian I Rice; Bruno Charbit; Anne Hulin; Nihel Khoudour; Consuelo Modesto Caballero; Christine Bodemer; Monique Fabre; Laureline Berteloot; Muriel Le Bourgeois; Philippe Reix; Thierry Walzer; Despina Moshous; Stéphane Blanche; Alain Fischer; Brigitte Bader-Meunier; Fréderic Rieux-Laucat; Yanick Joseph Crow; Bénédicte Neven
Journal:  J Allergy Clin Immunol       Date:  2016-08-20       Impact factor: 10.793

3.  Serious adverse events during ruxolitinib treatment discontinuation in patients with myelofibrosis.

Authors:  Ayalew Tefferi; Animesh Pardanani
Journal:  Mayo Clin Proc       Date:  2011-10-27       Impact factor: 7.616

4.  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

5.  Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Authors:  Gillian I Rice; Gabriella M A Forte; Marcin Szynkiewicz; Diana S Chase; Alec Aeby; Mohamed S Abdel-Hamid; Sam Ackroyd; Rebecca Allcock; Kathryn M Bailey; Umberto Balottin; Christine Barnerias; Genevieve Bernard; Christine Bodemer; Maria P Botella; Cristina Cereda; Kate E Chandler; Lyvia Dabydeen; Russell C Dale; Corinne De Laet; Christian G E L De Goede; Mireia Del Toro; Laila Effat; Noemi Nunez Enamorado; Elisa Fazzi; Blanca Gener; Madli Haldre; Jean-Pierre S-M Lin; John H Livingston; Charles Marques Lourenco; Wilson Marques; Patrick Oades; Pärt Peterson; Magnhild Rasmussen; Agathe Roubertie; Johanna Loewenstein Schmidt; Stavit A Shalev; Rogelio Simon; Ronen Spiegel; Kathryn J Swoboda; Samia A Temtamy; Grace Vassallo; Catheline N Vilain; Julie Vogt; Vanessa Wermenbol; William P Whitehouse; Doriette Soler; Ivana Olivieri; Simona Orcesi; Mona S Aglan; Maha S Zaki; Ghada M H Abdel-Salam; Adeline Vanderver; Kai Kisand; Flore Rozenberg; Pierre Lebon; Yanick J Crow
Journal:  Lancet Neurol       Date:  2013-10-30       Impact factor: 44.182

Review 6.  Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.

Authors:  Mathieu P Rodero; Yanick J Crow
Journal:  J Exp Med       Date:  2016-11-07       Impact factor: 14.307

7.  JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Authors:  Gina A Montealegre Sanchez; Adam Reinhardt; Suzanne Ramsey; Helmut Wittkowski; Philip J Hashkes; Yackov Berkun; Susanne Schalm; Sara Murias; Jason A Dare; Diane Brown; Deborah L Stone; Ling Gao; Thomas Klausmeier; Dirk Foell; Adriana A de Jesus; Dawn C Chapelle; Hanna Kim; Samantha Dill; Robert A Colbert; Laura Failla; Bahar Kost; Michelle O'Brien; James C Reynolds; Les R Folio; Katherine R Calvo; Scott M Paul; Nargues Weir; Alessandra Brofferio; Ariane Soldatos; Angelique Biancotto; Edward W Cowen; John J Digiovanna; Massimo Gadina; Andrew J Lipton; Colleen Hadigan; Steven M Holland; Joseph Fontana; Ahmad S Alawad; Rebecca J Brown; Kristina I Rother; Theo Heller; Kristina M Brooks; Parag Kumar; Stephen R Brooks; Meryl Waldman; Harsharan K Singh; Volker Nickeleit; Maria Silk; Apurva Prakash; Jonathan M Janes; Seza Ozen; Paul G Wakim; Paul A Brogan; William L Macias; Raphaela Goldbach-Mansky
Journal:  J Clin Invest       Date:  2018-06-11       Impact factor: 14.808
  7 in total
  10 in total

Review 1.  Moving towards a systems-based classification of innate immune-mediated diseases.

Authors:  Sinisa Savic; Emily A Caseley; Michael F McDermott
Journal:  Nat Rev Rheumatol       Date:  2020-02-27       Impact factor: 20.543

2.  DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes.

Authors:  Marco Luciani; Francesca Gatto; Monah Abou Alezz; Anna Maria Sole Giordano; Chiara Beghè; Lucrezia Della Volpe; Alessandro Migliara; Sara Valsoni; Marco Genua; Monika Dzieciatkowska; Giacomo Frati; Julie Tahraoui-Bories; Silvia Clara Giliani; Simona Orcesi; Elisa Fazzi; Renato Ostuni; Angelo D'Alessandro; Raffaella Di Micco; Ivan Merelli; Angelo Lombardo; Martin A M Reijns; Natalia Gromak; Angela Gritti; Anna Kajaste-Rudnitski
Journal:  J Exp Med       Date:  2022-03-09       Impact factor: 14.307

3.  Fulminant Course of Neuromyelitis Optica in a Patient With Anti-MDA5 Antibody-Positive Dermatomyositis: A Case Report.

Authors:  You-Ri Kang; Kun-Hee Kim; Tai-Seung Nam; Kyung-Hwa Lee; Kyung Wook Kang; Seung-Jin Lee; Seok-Yong Choi; Gopalakrishnan Chandrasekaran; Myeong-Kyu Kim
Journal:  Front Med (Lausanne)       Date:  2020-11-11

4.  Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1.

Authors:  Wei Xiao; Jie Feng; Hongyu Long; Bo Xiao; Zhaohui H Luo
Journal:  Front Genet       Date:  2021-05-13       Impact factor: 4.599

5.  The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience.

Authors:  Mikhail M Kostik; Rinat K Raupov; Evgeny N Suspitsin; Eugenia A Isupova; Ekaterina V Gaidar; Tatyana V Gabrusskaya; Maria A Kaneva; Ludmila S Snegireva; Tatyana S Likhacheva; Rimma S Miulkidzhan; Artem V Kosmin; Anastasia V Tumakova; Vera V Masalova; Margarita F Dubko; Olga V Kalashnikova; Ivona Aksentijevich; Vyacheslav G Chasnyk
Journal:  Front Pediatr       Date:  2022-02-08       Impact factor: 3.418

6.  Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib.

Authors:  Abirami Pararajasingam; Rachel E Bradley; Jennifer Evans; Ashima Lowe; Richard Goodwin; Stephen Jolles
Journal:  Front Pediatr       Date:  2022-04-25       Impact factor: 3.418

Review 7.  Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency.

Authors:  Petro Starokadomskyy; Andrea Escala Perez-Reyes; Ezra Burstein
Journal:  J Clin Immunol       Date:  2021-01-03       Impact factor: 8.542

8.  Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Authors:  Gillian I Rice; Sehoon Park; Francesco Gavazzi; Laura A Adang; Loveline A Ayuk; Lien Van Eyck; Luis Seabra; Christophe Barrea; Roberta Battini; Alexandre Belot; Stefan Berg; Thierry Billette de Villemeur; Annette E Bley; Lubov Blumkin; Odile Boespflug-Tanguy; Tracy A Briggs; Elise Brimble; Russell C Dale; Niklas Darin; François-Guillaume Debray; Valentina De Giorgis; Jonas Denecke; Diane Doummar; Gunilla Drake Af Hagelsrum; Despina Eleftheriou; Margherita Estienne; Elisa Fazzi; François Feillet; Jessica Galli; Nicholas Hartog; Julie Harvengt; Bénédicte Heron; Delphine Heron; Diedre A Kelly; Dorit Lev; Virginie Levrat; John H Livingston; Itxaso Marti; Cyril Mignot; Fanny Mochel; Marie-Christine Nougues; Ilena Oppermann; Belén Pérez-Dueñas; Bernt Popp; Mathieu P Rodero; Diana Rodriguez; Veronica Saletti; Cia Sharpe; Davide Tonduti; Gayatri Vadlamani; Keith Van Haren; Miguel Tomas Vila; Julie Vogt; Evangeline Wassmer; Arnaud Wiedemann; Callum J Wilson; Ayelet Zerem; Christiane Zweier; Sameer M Zuberi; Simona Orcesi; Adeline L Vanderver; Sun Hur; Yanick J Crow
Journal:  Hum Mutat       Date:  2020-01-14       Impact factor: 4.878

9.  Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Authors:  Dara McCreary; Ebun Omoyinmi; Ying Hong; Ciara Mulhern; Charalampia Papadopoulou; Marina Casimir; Yael Hacohen; Rodney Nyanhete; Helena Ahlfors; Thomas Cullup; Ming Lim; Kimberly Gilmour; Kshitij Mankad; Evangeline Wassmer; Stefan Berg; Cheryl Hemingway; Paul Brogan; Despina Eleftheriou
Journal:  JAMA Netw Open       Date:  2019-10-02

Review 10.  Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.

Authors:  Jérôme Hadjadj; Marie-Louise Frémond; Bénédicte Neven
Journal:  Front Immunol       Date:  2021-09-17       Impact factor: 7.561
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.