Literature DB >> 30302727

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

Andrea R Bernasconi1, Judith Yancoski2, Mariana Villa2, Matías M Oleastro2, Miguel Galicchio3, Jorge G Rossi2.   

Abstract

Entities:  

Keywords:  STAT1 level; flow cytometry; gain-of-function

Mesh：

Substances：

Year:  2018        PMID： 30302727     DOI： 10.1007/s10875-018-0557-0

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


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  5 in total

1.  Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Authors:  Giovanna Tabellini; Donatella Vairo; Omar Scomodon; Nicola Tamassia; Rosalba Monica Ferraro; Ornella Patrizi; Sara Gasperini; Annarosa Soresina; Giuliana Giardino; Claudio Pignata; Vassilios Lougaris; Alessandro Plebani; Laura Dotta; Marco A Cassatella; Silvia Parolini; Raffaele Badolato
Journal:  J Allergy Clin Immunol       Date:  2017-01-06       Impact factor: 10.793

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

Authors:  Prabha Chandrasekaran; Ofer Zimmerman; Michelle Paulson; Elizabeth P Sampaio; Alexandra F Freeman; Kathryn J Sowerwine; Darell Hurt; Julio C Alcántara-Montiel; Amy P Hsu; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2016-05-24       Impact factor: 10.793

3.  Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

Authors:  Yoko Mizoguchi; Miyuki Tsumura; Satoshi Okada; Osamu Hirata; Shizuko Minegishi; Kohsuke Imai; Nobuyuki Hyakuna; Hideki Muramatsu; Seiji Kojima; Yusuke Ozaki; Takehide Imai; Sachiyo Takeda; Tetsuya Okazaki; Tsuyoshi Ito; Shin'ichiro Yasunaga; Yoshihiro Takihara; Vanessa L Bryant; Xiao-Fei Kong; Sophie Cypowyj; Stéphanie Boisson-Dupuis; Anne Puel; Jean-Laurent Casanova; Tomohiro Morio; Masao Kobayashi
Journal:  J Leukoc Biol       Date:  2013-12-16       Impact factor: 4.962

4.  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

5.  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
  5 in total
  8 in total

1.  Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Authors:  Tariq Al Shehri; Kimberly Gilmour; Florian Gothe; Sam Loughlin; Shahnaz Bibi; Andrew D Rowan; Angela Grainger; Thivytra Mohanadas; Andrew J Cant; Mary A Slatter; Sophie Hambleton; Desa Lilic; Timothy R Leahy
Journal:  J Clin Immunol       Date:  2019-09-11       Impact factor: 8.317

Review 2.  Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors:  Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal:  J Clin Immunol       Date:  2020-08-27       Impact factor: 8.317

3.  Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1).

Authors:  Lisa Marinelli; Elizabeth Ristagno; Philip Fischer; Roshini Abraham; Avni Joshi
Journal:  BMJ Case Rep       Date:  2020-04-22

4.  STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.

Authors:  Ori Scott; Kyle Lindsay; Steven Erwood; Antonio Mollica; Chaim M Roifman; Ronald D Cohn; Evgueni A Ivakine
Journal:  NPJ Genom Med       Date:  2021-05-14       Impact factor: 8.617

5.  STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Authors:  Ofer Zimmerman; Peter Olbrich; Alexandra F Freeman; Lindsey B Rosen; Gulbu Uzel; Christa S Zerbe; Sergio D Rosenzweig; Hye Sun Kuehn; Kevin L Holmes; David Stephany; Li Ding; Elizabeth P Sampaio; Amy P Hsu; Steven M Holland
Journal:  Front Immunol       Date:  2019-07-10       Impact factor: 7.561

6.  Impaired Glucocorticoid Receptor Signaling Aggravates Lung Injury after Hemorrhagic Shock.

Authors:  Jonathan M Preuss; Ute Burret; Michael Gröger; Sandra Kress; Angelika Scheuerle; Peter Möller; Jan P Tuckermann; Martin Wepler; Sabine Vettorazzi
Journal:  Cells       Date:  2021-12-30       Impact factor: 6.600

Review 7.  Single-cell RNA sequencing combined with whole exome sequencing reveals the landscape of the immune pathogenic response to chronic mucocutaneous candidiasis with STAT1 GOF mutation.

Authors:  Xiaodi Lu; Keming Zhang; Weiwei Jiang; Hang Li; Yue Huang; Mingwei Du; Jian Wan; Yanyun Cao; Lin Du; Xiaogang Liu; Weihua Pan
Journal:  Front Immunol       Date:  2022-09-15       Impact factor: 8.786

8.  Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis.

Authors:  Marketa Bloomfield; Irena Zentsova; Tomas Milota; Anna Sediva; Zuzana Parackova
Journal:  Front Immunol       Date:  2022-09-12       Impact factor: 8.786
  8 in total

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