Literature DB >> 31367981

RNASEH2B Related Adult-Onset Interferonopathy.

Tracy A Briggs1,2, Anindita Paul3, Gillian Rice4, Ariane L Herrick5,6.   

Abstract

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Year:  2019        PMID： 31367981     DOI： 10.1007/s10875-019-00673-w

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


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  8 in total

1.  A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

Authors:  Frank Rutsch; Mary MacDougall; Changming Lu; Insa Buers; Olga Mamaeva; Yvonne Nitschke; Gillian I Rice; Heidi Erlandsen; Hans Gerd Kehl; Holger Thiele; Peter Nürnberg; Wolfgang Höhne; Yanick J Crow; Annette Feigenbaum; Raoul C Hennekam
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

2.  Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Authors:  Claudia Günther; Barbara Kind; Martin A M Reijns; Nicole Berndt; Manuel Martinez-Bueno; Christine Wolf; Victoria Tüngler; Osvaldo Chara; Young Ae Lee; Norbert Hübner; Louise Bicknell; Sophia Blum; Claudia Krug; Franziska Schmidt; Stefanie Kretschmer; Sarah Koss; Katy R Astell; Georgia Ramantani; Anja Bauerfeind; David L Morris; Deborah S Cunninghame Graham; Doryen Bubeck; Andrea Leitch; Stuart H Ralston; Elizabeth A Blackburn; Manfred Gahr; Torsten Witte; Timothy J Vyse; Inga Melchers; Elisabeth Mangold; Markus M Nöthen; Martin Aringer; Annegret Kuhn; Kirsten Lüthke; Leonore Unger; Annette Bley; Alice Lorenzi; John D Isaacs; Dimitra Alexopoulou; Karsten Conrad; Andreas Dahl; Axel Roers; Marta E Alarcon-Riquelme; Andrew P Jackson; Min Ae Lee-Kirsch
Journal:  J Clin Invest       Date:  2014-12-15       Impact factor: 14.808

3.  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

4.  Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:  Yanick J Crow; Diana S Chase; Johanna Lowenstein Schmidt; Marcin Szynkiewicz; Gabriella M A Forte; Hannah L Gornall; Anthony Oojageer; Beverley Anderson; Amy Pizzino; Guy Helman; Mohamed S Abdel-Hamid; Ghada M Abdel-Salam; Sam Ackroyd; Alec Aeby; Guillermo Agosta; Catherine Albin; Stavit Allon-Shalev; Montse Arellano; Giada Ariaudo; Vijay Aswani; Riyana Babul-Hirji; Eileen M Baildam; Nadia Bahi-Buisson; Kathryn M Bailey; Christine Barnerias; Magalie Barth; Roberta Battini; Michael W Beresford; Geneviève Bernard; Marika Bianchi; Thierry Billette de Villemeur; Edward M Blair; Miriam Bloom; Alberto B Burlina; Maria Luisa Carpanelli; Daniel R Carvalho; Manuel Castro-Gago; Anna Cavallini; Cristina Cereda; Kate E Chandler; David A Chitayat; Abigail E Collins; Concepcion Sierra Corcoles; Nuno J V Cordeiro; Giovanni Crichiutti; Lyvia Dabydeen; Russell C Dale; Stefano D'Arrigo; Christian G E L De Goede; Corinne De Laet; Liesbeth M H De Waele; Ines Denzler; Isabelle Desguerre; Koenraad Devriendt; Maja Di Rocco; Michael C Fahey; Elisa Fazzi; Colin D Ferrie; António Figueiredo; Blanca Gener; Cyril Goizet; Nirmala R Gowrinathan; Kalpana Gowrishankar; Donncha Hanrahan; Bertrand Isidor; Bülent Kara; Nasaim Khan; Mary D King; Edwin P Kirk; Ram Kumar; Lieven Lagae; Pierre Landrieu; Heinz Lauffer; Vincent Laugel; Roberta La Piana; Ming J Lim; Jean-Pierre S-M Lin; Tarja Linnankivi; Mark T Mackay; Daphna R Marom; Charles Marques Lourenço; Shane A McKee; Isabella Moroni; Jenny E V Morton; Marie-Laure Moutard; Kevin Murray; Rima Nabbout; Sheela Nampoothiri; Noemi Nunez-Enamorado; Patrick J Oades; Ivana Olivieri; John R Ostergaard; Belén Pérez-Dueñas; Julie S Prendiville; Venkateswaran Ramesh; Magnhild Rasmussen; Luc Régal; Federica Ricci; Marlène Rio; Diana Rodriguez; Agathe Roubertie; Elisabetta Salvatici; Karin A Segers; Gyanranjan P Sinha; Doriette Soler; Ronen Spiegel; Tommy I Stödberg; Rachel Straussberg; Kathryn J Swoboda; Mohnish Suri; Uta Tacke; Tiong Y Tan; Johann te Water Naude; Keng Wee Teik; Maya Mary Thomas; Marianne Till; Davide Tonduti; Enza Maria Valente; Rudy Noel Van Coster; Marjo S van der Knaap; Grace Vassallo; Raymon Vijzelaar; Julie Vogt; Geoffrey B Wallace; Evangeline Wassmer; Hannah J Webb; William P Whitehouse; Robyn N Whitney; Maha S Zaki; Sameer M Zuberi; John H Livingston; Flore Rozenberg; Pierre Lebon; Adeline Vanderver; Simona Orcesi; Gillian I Rice
Journal:  Am J Med Genet A       Date:  2015-01-16       Impact factor: 2.802

5.  Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.

Authors:  Sara Pizzi; Sarah Sertic; Simona Orcesi; Cristina Cereda; Marika Bianchi; Andrew P Jackson; Federico Lazzaro; Paolo Plevani; Marco Muzi-Falconi
Journal:  Hum Mol Genet       Date:  2014-09-30       Impact factor: 6.150

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.  Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.

Authors:  Gillian I Rice; Isabelle Melki; Marie-Louise Frémond; Tracy A Briggs; Mathieu P Rodero; Naoki Kitabayashi; Anthony Oojageer; Brigitte Bader-Meunier; Alexandre Belot; Christine Bodemer; Pierre Quartier; Yanick J Crow
Journal:  J Clin Immunol       Date:  2016-12-09       Impact factor: 8.317

8.  Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Authors:  A-C Bursztejn; T A Briggs; Y del Toro Duany; B H Anderson; J O'Sullivan; S G Williams; C Bodemer; S Fraitag; F Gebhard; B Leheup; I Lemelle; A Oojageer; E Raffo; E Schmitt; G I Rice; S Hur; Y J Crow
Journal:  Br J Dermatol       Date:  2015-10-29       Impact factor: 9.302
  8 in total
  1 in total

Review 1.  The type I interferonopathies: 10 years on.

Authors:  Yanick J Crow; Daniel B Stetson
Journal:  Nat Rev Immunol       Date:  2021-10-20       Impact factor: 108.555
  1 in total

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