Literature DB >> 23403048

Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival.

Neil Romberg, Henner Morbach, Monica G Lawrence, Sanghyun Kim, Insoo Kang, Steven M Holland, Joshua D Milner, Eric Meffre.   

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Year:  2013        PMID： 23403048      PMCID： PMC3672340          DOI： 10.1016/j.jaci.2013.01.004

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  7 in total

1.  Interleukin-27 priming of T cells controls IL-17 production in trans via induction of the ligand PD-L1.

Authors:  Kiyoshi Hirahara; Kamran Ghoreschi; Xiang-Ping Yang; Hayato Takahashi; Arian Laurence; Golnaz Vahedi; Giuseppe Sciumè; Aisling O'Hara Hall; Christopher D Dupont; Loise M Francisco; Qian Chen; Masao Tanaka; Yuka Kanno; Hong-Wei Sun; Arlene H Sharpe; Christopher A Hunter; John J O'Shea
Journal:  Immunity       Date:  2012-06-21       Impact factor: 31.745

2.  STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

Authors:  Frank L van de Veerdonk; Theo S Plantinga; Alexander Hoischen; Sanne P Smeekens; Leo A B Joosten; Christian Gilissen; Peer Arts; Diana C Rosentul; Andrew J Carmichael; Chantal A A Smits-van der Graaf; Bart Jan Kullberg; Jos W M van der Meer; Desa Lilic; Joris A Veltman; Mihai G Netea
Journal:  N Engl J Med       Date:  2011-06-29       Impact factor: 91.245

3.  Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome.

Authors:  Joshua D Milner; Jason M Brenchley; Arian Laurence; Alexandra F Freeman; Brenna J Hill; Kevin M Elias; Yuka Kanno; Christine Spalding; Houda Z Elloumi; Michelle L Paulson; Joie Davis; Amy Hsu; Ava I Asher; John O'Shea; Steven M Holland; William E Paul; Daniel C Douek
Journal:  Nature       Date:  2008-03-12       Impact factor: 49.962

4.  STAT1-induced apoptosis is mediated by caspases 2, 3, and 7.

Authors:  Juan J Sironi; Toru Ouchi
Journal:  J Biol Chem       Date:  2003-11-17       Impact factor: 5.157

5.  Human B-cell lymphoma cell lines are highly sensitive to apoptosis induced by all-trans retinoic acid and interferon-gamma.

Authors:  Nozomi Niitsu; Masaaki Higashihara; Yoshio Honma
Journal:  Leuk Res       Date:  2002-08       Impact factor: 3.156

6.  Cell growth arrest and induction of cyclin-dependent kinase inhibitor p21 WAF1/CIP1 mediated by STAT1.

Authors:  Y E Chin; M Kitagawa; W C Su; Z H You; Y Iwamoto; X Y Fu
Journal:  Science       Date:  1996-05-03       Impact factor: 47.728

7.  Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Authors:  Luyan Liu; Satoshi Okada; Xiao-Fei Kong; Alexandra Y Kreins; Sophie Cypowyj; Avinash Abhyankar; Julie Toubiana; Yuval Itan; Magali Audry; Patrick Nitschke; Cécile Masson; Beata Toth; Jérome Flatot; Mélanie Migaud; Maya Chrabieh; Tatiana Kochetkov; Alexandre Bolze; Alessandro Borghesi; Antoine Toulon; Julia Hiller; Stefanie Eyerich; Kilian Eyerich; Vera Gulácsy; Ludmyla Chernyshova; Viktor Chernyshov; Anastasia Bondarenko; Rosa María Cortés Grimaldo; Lizbeth Blancas-Galicia; Ileana Maria Madrigal Beas; Joachim Roesler; Klaus Magdorf; Dan Engelhard; Caroline Thumerelle; Pierre-Régis Burgel; Miriam Hoernes; Barbara Drexel; Reinhard Seger; Theresia Kusuma; Annette F Jansson; Julie Sawalle-Belohradsky; Bernd Belohradsky; Emmanuelle Jouanguy; Jacinta Bustamante; Mélanie Bué; Nathan Karin; Gizi Wildbaum; Christine Bodemer; Olivier Lortholary; Alain Fischer; Stéphane Blanche; Saleh Al-Muhsen; Janine Reichenbach; Masao Kobayashi; Francisco Espinosa Rosales; Carlos Torres Lozano; Sara Sebnem Kilic; Matias Oleastro; Amos Etzioni; Claudia Traidl-Hoffmann; Ellen D Renner; Laurent Abel; Capucine Picard; László Maródi; Stéphanie Boisson-Dupuis; Anne Puel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2011-07-04       Impact factor: 14.307
  7 in total
  35 in total

Review 1.  A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation.

Authors:  Juan Carlos Aldave; Enrique Cachay; Luis Núñez; Ausberto Chunga; Sergio Murillo; Sophie Cypowyj; Jacinta Bustamante; Anne Puel; Jean-Laurent Casanova; Armando Koo
Journal:  J Clin Immunol       Date:  2013-10-09       Impact factor: 8.317

Review 2.  Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Authors:  Bertrand Boisson; Pierre Quartier; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2015-01-31       Impact factor: 7.486

3.  Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

Authors:  Stella P Hartono; Alexander Vargas-Hernández; Mark J Ponsford; Ivan K Chinn; Stephen Jolles; Keith Wilson; Lisa R Forbes
Journal:  J Clin Immunol       Date:  2018-10-13       Impact factor: 8.317

Review 4.  Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.

Authors:  Luigi D Notarangelo; Thomas A Fleisher
Journal:  J Allergy Clin Immunol       Date:  2017-03       Impact factor: 10.793

5.  miR-146a Controls Immune Response in the Melanoma Microenvironment.

Authors:  Justin Mastroianni; Natalie Stickel; Hana Andrlova; Kathrin Hanke; Wolfgang Melchinger; Sandra Duquesne; Dominik Schmidt; Martina Falk; Geoffroy Andrieux; Dietmar Pfeifer; Heide Dierbach; Annette Schmitt-Graeff; Frank Meiss; Melanie Boerries; Robert Zeiser
Journal:  Cancer Res       Date:  2018-11-13       Impact factor: 12.701

6.  Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Authors:  Katja G Weinacht; Louis-Marie Charbonnier; Fayhan Alroqi; Ashley Plant; Qi Qiao; Hao Wu; Clement Ma; Troy R Torgerson; Sergio D Rosenzweig; Thomas A Fleisher; Luigi D Notarangelo; Imelda C Hanson; Lisa R Forbes; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2017-01-27       Impact factor: 10.793

7.  Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Authors:  Reiko Kagawa; Ryoji Fujiki; Miyuki Tsumura; Sonoko Sakata; Shiho Nishimura; Yuval Itan; Xiao-Fei Kong; Zenichiro Kato; Hidenori Ohnishi; Osamu Hirata; Satoshi Saito; Maiko Ikeda; Jamila El Baghdadi; Aziz Bousfiha; Kaori Fujiwara; Matias Oleastro; Judith Yancoski; Laura Perez; Silvia Danielian; Fatima Ailal; Hidetoshi Takada; Toshiro Hara; Anne Puel; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Osamu Ohara; Satoshi Okada; Masao Kobayashi
Journal:  J Allergy Clin Immunol       Date:  2016-12-20       Impact factor: 10.793

Review 8.  The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases.

Authors:  Joshua D Milner; Steven M Holland
Journal:  Nat Rev Immunol       Date:  2013-07-26       Impact factor: 53.106

Review 9.  Advances in basic and clinical immunology in 2013.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

Review 10.  Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

Authors:  Christa S Zerbe; Beatriz E Marciano; Rohit K Katial; Carah B Santos; Nick Adamo; Amy P Hsu; Mary E Hanks; Dirk N Darnell; Martha M Quezado; Cathleen Frein; Lisa A Barnhart; Victoria L Anderson; Gulbu Uzel; Alexandra F Freeman; Andrea Lisco; Avindra Nath; Eugene O Major; Elizabeth P Sampaio; Steven M Holland
Journal:  Clin Infect Dis       Date:  2016-01-06       Impact factor: 9.079
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