Literature DB >> 19348930

A novel mutation in the linker domain of the signal transducer and activator of transcription 3 gene, p.Lys531Glu, in hyper-IgE syndrome.

Hee-Jin Kim, Ji-Hyun Kim, Young Kee Shin, Sang-Il Lee, Kang-Mo Ahn.   

Abstract

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Year:  2009        PMID： 19348930     DOI： 10.1016/j.jaci.2009.01.068

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


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  8 in total

1.  Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

Authors:  Claire E Bocchini; Karen Nahmod; Panagiotis Katsonis; Sang Kim; Moses M Kasembeli; Alexandra Freeman; Olivier Lichtarge; George Makedonas; David J Tweardy
Journal:  Blood       Date:  2016-10-31       Impact factor: 22.113

2.  A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Authors:  Joëlle Khourieh; Geetha Rao; Tanwir Habib; Danielle T Avery; Alain Lefèvre-Utile; Marie-Olivia Chandesris; Aziz Belkadi; Maya Chrabieh; Hanan Alwaseem; Virginie Grandin; Françoise Sarrot-Reynauld; Agathe Sénéchal; Olivier Lortholary; Xiao-Fei Kong; Stéphanie Boisson-Dupuis; Capucine Picard; Anne Puel; Vivien Béziat; Qian Zhang; Laurent Abel; Henrik Molina; Nico Marr; Stuart G Tangye; Jean-Laurent Casanova; Bertrand Boisson
Journal:  Proc Natl Acad Sci U S A       Date:  2019-07-25       Impact factor: 11.205

Review 3.  Advances in basic and clinical immunology in 2009.

Authors:  Javier Chinen; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2010-03       Impact factor: 10.793

4.  Allosteric Communication across STAT3 Domains Associated with STAT3 Function and Disease-Causing Mutation.

Authors:  Andrew T Namanja; Jianghai Wang; Ralf Buettner; Loren Colson; Yuan Chen
Journal:  J Mol Biol       Date:  2016-01-14       Impact factor: 5.469

5.  Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES).

Authors:  Wilson S Robinson; Sandra R Arnold; Christie F Michael; John D Vickery; Robert A Schoumacher; Eniko K Pivnick; Jewell C Ward; Vijaya Nagabhushanam; Dukhee B Lew
Journal:  Clin Mol Allergy       Date:  2011-11-29

6.  Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity.

Authors:  Sameer Bahal; Maha E Houssen; Ania Manson; Lorena Lorenzo; Mark A Russell; Noel G Morgan; Fariba Tahami; Sofia Grigoriadou
Journal:  Case Reports Immunol       Date:  2019-10-13

7.  Clinical Profile of Hyper-IgE Syndrome in India.

Authors:  Biman Saikia; Amit Rawat; Ranjana W Minz; Deepti Suri; Vignesh Pandiarajan; Ankur Jindal; Smrity Sahu; Adil Karim; Mukesh Desai; Prasad D Taur; Ambreen Pandrowala; Vijaya Gowri; Manisha Madkaikar; Aparna Dalvi; Reetika Mallik Yadav; Harsha Prasada Lashkari; Revathi Raj; Ramya Uppuluri; Venkateswaran V Swaminathan; Sagar Bhattad; Gladys Cyril; Harish Kumar; Anuj Shukla; Manas Kalra; Geeta Govindaraj; Surjit Singh
Journal:  Front Immunol       Date:  2021-02-26       Impact factor: 7.561

8.  Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Authors:  Joëlle Khourieh; Peng Zhang; Franck Rapaport; Qian Zhang; Anne Puel; Vivien Béziat; Jean-Laurent Casanova; Bertrand Boisson; Takaki Asano; András N Spaan; Juan Li; Wei-Te Lei; Simon J Pelham; David Hum; Maya Chrabieh; Ji Eun Han; Antoine Guérin; Joseph Mackie; Sudhir Gupta; Biman Saikia; Jamila E I Baghdadi; Ilham Fadil; Aziz Bousfiha; Tanwir Habib; Nico Marr; Luckshman Ganeshanandan; Jane Peake; Luke Droney; Andrew Williams; Fatih Celmeli; Nevin Hatipoglu; Tayfun Ozcelik; Capucine Picard; Laurent Abel; Stuart G Tangye; Stéphanie Boisson-Dupuis
Journal:  J Exp Med       Date:  2021-06-17       Impact factor: 14.307
  8 in total

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