Literature DB >> 10963096

Systemic lupus erythematosus or Aicardi-Goutières syndrome?

J Aicardi, F Goutières.   

Abstract

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Year:  2000        PMID: 10963096     DOI: 10.1055/s-2000-7533

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


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  17 in total

1.  Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

Authors:  Min Ae Lee-Kirsch; Maolian Gong; Herbert Schulz; Franz Rüschendorf; Annette Stein; Christiane Pfeiffer; Annalisa Ballarini; Manfred Gahr; Norbert Hubner; Maja Linné
Journal:  Am J Hum Genet       Date:  2006-08-17       Impact factor: 11.025

2.  Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Authors:  Gillian Rice; William G Newman; John Dean; Teresa Patrick; Rekha Parmar; Kim Flintoff; Peter Robins; Scott Harvey; Thomas Hollis; Ann O'Hara; Ariane L Herrick; Andrew P Bowden; Fred W Perrino; Tomas Lindahl; Deborah E Barnes; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2007-02-19       Impact factor: 11.025

3.  Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Authors:  Julie Toubiana; Satoshi Okada; Julia Hiller; Matias Oleastro; Macarena Lagos Gomez; Juan Carlos Aldave Becerra; Marie Ouachée-Chardin; Fanny Fouyssac; Katta Mohan Girisha; Amos Etzioni; Joris Van Montfrans; Yildiz Camcioglu; Leigh Ann Kerns; Bernd Belohradsky; Stéphane Blanche; Aziz Bousfiha; Carlos Rodriguez-Gallego; Isabelle Meyts; Kai Kisand; Janine Reichenbach; Ellen D Renner; Sergio Rosenzweig; Bodo Grimbacher; Frank L van de Veerdonk; Claudia Traidl-Hoffmann; Capucine Picard; Laszlo Marodi; Tomohiro Morio; Masao Kobayashi; Desa Lilic; Joshua D Milner; Steven Holland; Jean-Laurent Casanova; Anne Puel
Journal:  Blood       Date:  2016-04-25       Impact factor: 22.113

Review 4.  Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Authors:  Yanick J Crow; Jan Rehwinkel
Journal:  Hum Mol Genet       Date:  2009-10-15       Impact factor: 6.150

5.  Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Authors:  Gillian I Rice; Jacquelyn Bond; Aruna Asipu; Rebecca L Brunette; Iain W Manfield; Ian M Carr; Jonathan C Fuller; Richard M Jackson; Teresa Lamb; Tracy A Briggs; Manir Ali; Hannah Gornall; Lydia R Couthard; Alec Aeby; Simon P Attard-Montalto; Enrico Bertini; Christine Bodemer; Knut Brockmann; Louise A Brueton; Peter C Corry; Isabelle Desguerre; Elisa Fazzi; Angels Garcia Cazorla; Blanca Gener; Ben C J Hamel; Arvid Heiberg; Matthew Hunter; Marjo S van der Knaap; Ram Kumar; Lieven Lagae; Pierre G Landrieu; Charles M Lourenco; Daphna Marom; Michael F McDermott; William van der Merwe; Simona Orcesi; Julie S Prendiville; Magnhild Rasmussen; Stavit A Shalev; Doriette M Soler; Marwan Shinawi; Ronen Spiegel; Tiong Y Tan; Adeline Vanderver; Emma L Wakeling; Evangeline Wassmer; Elizabeth Whittaker; Pierre Lebon; Daniel B Stetson; David T Bonthron; Yanick J Crow
Journal:  Nat Genet       Date:  2009-06-14       Impact factor: 38.330

6.  A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

Authors:  M Ali; L J Highet; D Lacombe; C Goizet; M D King; U Tacke; M S van der Knaap; L Lagae; C Rittey; H G Brunner; H van Bokhoven; B Hamel; Y A Oade; A Sanchis; I Desguerre; D Cau; N Mathieu; M L Moutard; P Lebon; D Kumar; A P Jackson; Y J Crow
Journal:  J Med Genet       Date:  2005-05-20       Impact factor: 6.318

7.  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

8.  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

9.  Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:  Gillian Rice; Teresa Patrick; Rekha Parmar; Claire F Taylor; Alec Aeby; Jean Aicardi; Rafael Artuch; Simon Attard Montalto; Carlos A Bacino; Bruno Barroso; Peter Baxter; Willam S Benko; Carsten Bergmann; Enrico Bertini; Roberta Biancheri; Edward M Blair; Nenad Blau; David T Bonthron; Tracy Briggs; Louise A Brueton; Han G Brunner; Christopher J Burke; Ian M Carr; Daniel R Carvalho; Kate E Chandler; Hans-Jurgen Christen; Peter C Corry; Frances M Cowan; Helen Cox; Stefano D'Arrigo; John Dean; Corinne De Laet; Claudine De Praeter; Catherine Dery; Colin D Ferrie; Kim Flintoff; Suzanna G M Frints; Angels Garcia-Cazorla; Blanca Gener; Cyril Goizet; Francoise Goutieres; Andrew J Green; Agnes Guet; Ben C J Hamel; Bruce E Hayward; Arvid Heiberg; Raoul C Hennekam; Marie Husson; Andrew P Jackson; Rasieka Jayatunga; Yong-Hui Jiang; Sarina G Kant; Amy Kao; Mary D King; Helen M Kingston; Joerg Klepper; Marjo S van der Knaap; Andrew J Kornberg; Dieter Kotzot; Wilfried Kratzer; Didier Lacombe; Lieven Lagae; Pierre Georges Landrieu; Giovanni Lanzi; Andrea Leitch; Ming J Lim; John H Livingston; Charles M Lourenco; E G Hermione Lyall; Sally A Lynch; Michael J Lyons; Daphna Marom; John P McClure; Robert McWilliam; Serge B Melancon; Leena D Mewasingh; Marie-Laure Moutard; Ken K Nischal; John R Ostergaard; Julie Prendiville; Magnhild Rasmussen; R Curtis Rogers; Dominique Roland; Elisabeth M Rosser; Kevin Rostasy; Agathe Roubertie; Amparo Sanchis; Raphael Schiffmann; Sabine Scholl-Burgi; Sunita Seal; Stavit A Shalev; C Sierra Corcoles; Gyan P Sinha; Doriette Soler; Ronen Spiegel; John B P Stephenson; Uta Tacke; Tiong Yang Tan; Marianne Till; John L Tolmie; Pam Tomlin; Federica Vagnarelli; Enza Maria Valente; Rudy N A Van Coster; Nathalie Van der Aa; Adeline Vanderver; Johannes S H Vles; Thomas Voit; Evangeline Wassmer; Bernhard Weschke; Margo L Whiteford; Michel A A Willemsen; Andreas Zankl; Sameer M Zuberi; Simona Orcesi; Elisa Fazzi; Pierre Lebon; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2007-09-04       Impact factor: 11.025

10.  Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis.

Authors:  Alexandre Belot; Rolando Cimaz
Journal:  Pediatr Rheumatol Online J       Date:  2012-08-10       Impact factor: 3.054

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