Literature DB >> 26080282

Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation.

Muneyoshi Tanimura1, Kaoru Dohi2, Masahiro Hirayama3, Yuichi Sato1, Emiyo Sugiura1, Hiroshi Nakajima1, Shinji Kanemitsu4, Hidemi Toyoda3, Norikazu Yamada1, Masahiro Masuya5, Kyoko Imanaka-Yoshida6, Hideto Shimpo4, Eiichi Azuma7, Masaaki Ito1.   

Abstract

Entities:  

Keywords:  Aneurysm; Monocyte; STAT1; Treg; Vasculitis

Mesh：

Substances：

Year:  2015        PMID： 26080282     DOI： 10.1016/j.ijcard.2015.05.183

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  8 in total

1.  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 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.  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

4.  Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Authors:  Romain Lévy; Satoshi Okada; Vivien Béziat; Kunihiko Moriya; Caini Liu; Louis Yi Ann Chai; Mélanie Migaud; Fabian Hauck; Amein Al Ali; Cyril Cyrus; Chittibabu Vatte; Turkan Patiroglu; Ekrem Unal; Marie Ferneiny; Nobuyuki Hyakuna; Serdar Nepesov; Matias Oleastro; Aydan Ikinciogullari; Figen Dogu; Takaki Asano; Osamu Ohara; Ling Yun; Erika Della Mina; Didier Bronnimann; Yuval Itan; Florian Gothe; Jacinta Bustamante; Stéphanie Boisson-Dupuis; Natalia Tahuil; Caner Aytekin; Aicha Salhi; Saleh Al Muhsen; Masao Kobayashi; Julie Toubiana; Laurent Abel; Xiaoxia Li; Yildiz Camcioglu; Fatih Celmeli; Christoph Klein; Suzan A AlKhater; Jean-Laurent Casanova; Anne Puel
Journal:  Proc Natl Acad Sci U S A       Date:  2016-12-07       Impact factor: 12.779

Review 5.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

6.  Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Authors:  Irit Tirosh; Shiri Spielman; Ortal Barel; Reut Ram; Tali Stauber; Gideon Paret; Marina Rubinsthein; Itai M Pessach; Maya Gerstein; Yair Anikster; Rachel Shukrun; Adi Dagan; Katerina Adler; Ben Pode-Shakked; Alexander Volkov; Marina Perelman; Shoshana Greenberger; Raz Somech; Einat Lahav; Amar J Majmundar; Shai Padeh; Friedhelm Hildebrandt; Asaf Vivante
Journal:  Pediatr Rheumatol Online J       Date:  2019-07-30       Impact factor: 3.054

7.  Integrating Bulk Transcriptome and Single-Cell RNA Sequencing Data Reveals the Landscape of the Immune Microenvironment in Thoracic Aortic Aneurysms.

Authors:  Qunhui Wang; Xian Guo; Bo Huo; Xin Feng; Ze-Min Fang; Ding-Sheng Jiang; Xiang Wei
Journal:  Front Cardiovasc Med       Date:  2022-04-07

8.  Identification of key genes and pathways in abdominal aortic aneurysm by integrated bioinformatics analysis.

Authors:  Yihai Liu; Xixi Wang; Hongye Wang; Tingting Hu
Journal:  J Int Med Res       Date:  2019-12-29       Impact factor: 1.671
  8 in total

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