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Literature DB >> 27345172

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

Prabha Chandrasekaran¹, Ofer Zimmerman², Michelle Paulson², Elizabeth P Sampaio², Alexandra F Freeman², Kathryn J Sowerwine², Darell Hurt³, Julio C Alcántara-Montiel⁴, Amy P Hsu², Steven M Holland⁵.

Abstract

Entities: CellLine Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2016 PMID： 27345172 PMCID： PMC5056811 DOI： 10.1016/j.jaci.2016.05.007

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

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9 in total

1. Somatic STAT3 mutations in large granular lymphocytic leukemia.

Authors: Hanna L M Koskela; Samuli Eldfors; Pekka Ellonen; Arjan J van Adrichem; Heikki Kuusanmäki; Emma I Andersson; Sonja Lagström; Michael J Clemente; Thomas Olson; Sari E Jalkanen; Muntasir Mamun Majumder; Henrikki Almusa; Henrik Edgren; Maija Lepistö; Pirkko Mattila; Kathryn Guinta; Pirjo Koistinen; Taru Kuittinen; Kati Penttinen; Alun Parsons; Jonathan Knowles; Janna Saarela; Krister Wennerberg; Olli Kallioniemi; Kimmo Porkka; Thomas P Loughran; Caroline A Heckman; Jaroslaw P Maciejewski; Satu Mustjoki
Journal: N Engl J Med Date: 2012-05-17 Impact factor: 91.245

2. 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

3. 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

4. Crystal structure of unphosphorylated STAT3 core fragment.

Authors: Zhiyong Ren; Xiang Mao; Claudia Mertens; Ravi Krishnaraj; Jie Qin; Pijus K Mandal; Michael J Romanowski; John S McMurray; Xiaomin Chen
Journal: Biochem Biophys Res Commun Date: 2008-04-21 Impact factor: 3.575

5. STAT3 mutations are frequent in CD30+ T-cell lymphomas and T-cell large granular lymphocytic leukemia.

Authors: R S Ohgami; L Ma; J D Merker; B Martinez; J L Zehnder; D A Arber
Journal: Leukemia Date: 2013-04-08 Impact factor: 11.528

6. 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

7. 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

8. STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia.

Authors: Andres Jerez; Michael J Clemente; Hideki Makishima; Hanna Koskela; Francis Leblanc; Kwok Peng Ng; Thomas Olson; Bartlomiej Przychodzen; Manuel Afable; Ines Gomez-Segui; Kathryn Guinta; Lisa Durkin; Eric D Hsi; Kathy McGraw; Dan Zhang; Marcin W Wlodarski; Kimmo Porkka; Mikkael A Sekeres; Alan List; Satu Mustjoki; Thomas P Loughran; Jaroslaw P Maciejewski
Journal: Blood Date: 2012-08-02 Impact factor: 22.113

9. 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

9 in total

11 in total

1. Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.

Authors: Andrea R Bernasconi; Judith Yancoski; Mariana Villa; Matías M Oleastro; Miguel Galicchio; Jorge G Rossi
Journal: J Clin Immunol Date: 2018-10-09 Impact factor: 8.317

Review 2. 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

Review 3. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).

Authors: Annely M Richardson; Ann M Moyer; Linda Hasadsri; Roshini S Abraham
Journal: Curr Allergy Asthma Rep Date: 2018-02-22 Impact factor: 4.806

Review 4. Exome and genome sequencing for inborn errors of immunity.

Authors: Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal: J Allergy Clin Immunol Date: 2016-10 Impact factor: 10.793

5. Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Authors: Sarah K Baxter; Tom Walsh; Silvia Casadei; Mary M Eckert; Eric J Allenspach; David Hagin; Gesmar Segundo; Ming K Lee; Suleyman Gulsuner; Brian H Shirts; Kathleen E Sullivan; Michael D Keller; Troy R Torgerson; Mary-Claire King
Journal: J Allergy Clin Immunol Date: 2021-04-20 Impact factor: 10.793

Review 6. Responses to Cytokines and Interferons that Depend upon JAKs and STATs.

Authors: George R Stark; HyeonJoo Cheon; Yuxin Wang
Journal: Cold Spring Harb Perspect Biol Date: 2018-01-02 Impact factor: 9.708

7. STAT3 gain-of-function is not responsible for low total IgE levels in patients with autoimmune chronic spontaneous urticaria.

Authors: Merle Sauer; Jörg Scheffel; Stefan Frischbutter; Niklas Mahnke; Marcus Maurer; Thomas Burmeister; Karoline Krause; Martin Metz
Journal: Front Immunol Date: 2022-07-19 Impact factor: 8.786