Literature DB >> 31073074

Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression.

Francesca Todaro1,2, Nicola Tamassia3, Marinella Pinelli1,2, Daniele Moratto1, Laura Dotta1, Alessia Grassi4, Filippo Consonni1, Mauro Giacomelli1, Paolo Lionetti5, Elisa Gardiman3, Marco A Cassatella3, Eleonora Gambineri4, Roberto Berni Canani6, Raffaele Badolato7.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2019        PMID: 31073074      PMCID: PMC6601097          DOI: 10.3324/haematol.2018.202374

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


× No keyword cloud information.
  17 in total

1.  Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

Authors:  Yoshiyuki Minegishi; Masako Saito; Shigeru Tsuchiya; Ikuya Tsuge; Hidetoshi Takada; Toshiro Hara; Nobuaki Kawamura; Tadashi Ariga; Srdjan Pasic; Oliver Stojkovic; Ayse Metin; Hajime Karasuyama
Journal:  Nature       Date:  2007-08-05       Impact factor: 49.962

2.  STAT3 mutations in the hyper-IgE syndrome.

Authors:  Steven M Holland; Frank R DeLeo; Houda Z Elloumi; Amy P Hsu; Gulbu Uzel; Nina Brodsky; Alexandra F Freeman; Andrew Demidowich; Joie Davis; Maria L Turner; Victoria L Anderson; Dirk N Darnell; Pamela A Welch; Douglas B Kuhns; David M Frucht; Harry L Malech; John I Gallin; Scott D Kobayashi; Adeline R Whitney; Jovanka M Voyich; James M Musser; Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Bodo Grimbacher
Journal:  N Engl J Med       Date:  2007-09-19       Impact factor: 91.245

3.  Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

Authors:  Emma M Haapaniemi; Meri Kaustio; Hanna L M Rajala; Arjan J van Adrichem; Leena Kainulainen; Virpi Glumoff; Rainer Doffinger; Heikki Kuusanmäki; Tarja Heiskanen-Kosma; Luca Trotta; Samuel Chiang; Petri Kulmala; Samuli Eldfors; Riku Katainen; Sanna Siitonen; Marja-Liisa Karjalainen-Lindsberg; Panu E Kovanen; Timo Otonkoski; Kimmo Porkka; Kaarina Heiskanen; Arno Hänninen; Yenan T Bryceson; Raija Uusitalo-Seppälä; Janna Saarela; Mikko Seppänen; Satu Mustjoki; Juha Kere
Journal:  Blood       Date:  2014-10-27       Impact factor: 22.113

4.  Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Authors:  Joshua D Milner; Tiphanie P Vogel; Lisa Forbes; Chi A Ma; Asbjørg Stray-Pedersen; Julie E Niemela; Jonathan J Lyons; Karin R Engelhardt; Yu Zhang; Nermina Topcagic; Elisha D O Roberson; Helen Matthews; James W Verbsky; Trivikram Dasu; Alexander Vargas-Hernandez; Nidhy Varghese; Kenneth L McClain; Lina B Karam; Karen Nahmod; George Makedonas; Emily M Mace; Hanne S Sorte; Gøri Perminow; V Koneti Rao; Michael P O'Connell; Susan Price; Helen C Su; Morgan Butrick; Joshua McElwee; Jason D Hughes; Joseph Willet; David Swan; Yaobo Xu; Mauro Santibanez-Koref; Voytek Slowik; Darrell L Dinwiddie; Christina E Ciaccio; Carol J Saunders; Seth Septer; Stephen F Kingsmore; Andrew J White; Andrew J Cant; Sophie Hambleton; Megan A Cooper
Journal:  Blood       Date:  2014-10-30       Impact factor: 22.113

Review 5.  STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.

Authors:  Tiziana Lorenzini; Laura Dotta; Mauro Giacomelli; Donatella Vairo; Raffaele Badolato
Journal:  J Leukoc Biol       Date:  2016-11-01       Impact factor: 4.962

Review 6.  The Ying and Yang of STAT3 in Human Disease.

Authors:  Tiphanie P Vogel; Joshua D Milner; Megan A Cooper
Journal:  J Clin Immunol       Date:  2015-08-18       Impact factor: 8.317

Review 7.  Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.

Authors:  James W Verbsky; Talal A Chatila
Journal:  Curr Opin Pediatr       Date:  2013-12       Impact factor: 2.856

8.  The STAT5b Pathway Defect and Autoimmunity.

Authors:  Takahiro Kanai; Jennifer Jenks; Kari Christine Nadeau
Journal:  Front Immunol       Date:  2012-08-14       Impact factor: 7.561

9.  Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Authors:  Federica Barzaghi; Laura Passerini; Rosa Bacchetta
Journal:  Front Immunol       Date:  2012-07-31       Impact factor: 7.561

10.  Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Authors:  Sarah E Flanagan; Emma Haapaniemi; Mark A Russell; Richard Caswell; Hana Lango Allen; Elisa De Franco; Timothy J McDonald; Hanna Rajala; Anita Ramelius; John Barton; Kaarina Heiskanen; Tarja Heiskanen-Kosma; Merja Kajosaari; Nuala P Murphy; Tatjana Milenkovic; Mikko Seppänen; Åke Lernmark; Satu Mustjoki; Timo Otonkoski; Juha Kere; Noel G Morgan; Sian Ellard; Andrew T Hattersley
Journal:  Nat Genet       Date:  2014-07-20       Impact factor: 38.330

View more
  4 in total

Review 1.  IL-2 Signaling Axis Defects: How Many Faces?

Authors:  Filippo Consonni; Claudio Favre; Eleonora Gambineri
Journal:  Front Pediatr       Date:  2021-07-02       Impact factor: 3.418

2.  Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.

Authors:  Ebe Schiavo; Beatrice Martini; Enrico Attardi; Filippo Consonni; Sara Ciullini Mannurita; Maria Luisa Coniglio; Marco Tellini; Elena Chiocca; Ilaria Fotzi; Laura Luti; Irene D'Alba; Marinella Veltroni; Claudio Favre; Eleonora Gambineri
Journal:  Front Immunol       Date:  2022-01-04       Impact factor: 7.561

Review 3.  ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.

Authors:  Filippo Consonni; Eleonora Gambineri; Claudio Favre
Journal:  Ann Hematol       Date:  2022-01-20       Impact factor: 3.673

Review 4.  Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype.

Authors:  Laura Faletti; Stephan Ehl; Maximilian Heeg
Journal:  Biomed J       Date:  2021-03-20       Impact factor: 4.910

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.