Literature DB >> 27531075

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.

Glynis Frans1, Leen Moens1, Heidi Schaballie2, Greet Wuyts1, Adrian Liston3, Koen Poesen4, Ann Janssens5, Gillian I Rice6, Yanick J Crow7, Isabelle Meyts2, Xavier Bossuyt8.   

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Year:  2016        PMID： 27531075     DOI： 10.1016/j.jaci.2016.06.050

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


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  12 in total

Review 1.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

Review 2.  Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

Authors:  Ilaria Maccora; Athimalaipet V Ramanan; Daniel Wiseman; Edoardo Marrani; Maria V Mastrolia; Gabriele Simonini
Journal:  J Clin Immunol       Date:  2022-08-19       Impact factor: 8.542

Review 3.  The molecular genetics of sideroblastic anemia.

Authors:  Sarah Ducamp; Mark D Fleming
Journal:  Blood       Date:  2018-11-06       Impact factor: 25.476

4.  Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Authors:  Angeliki Giannelou; Hongying Wang; Qing Zhou; Yong Hwan Park; Mones S Abu-Asab; Kris Ylaya; Deborah L Stone; Anna Sediva; Rola Sleiman; Lucie Sramkova; Deepika Bhatla; Elisavet Serti; Wanxia Li Tsai; Dan Yang; Kevin Bishop; Blake Carrington; Wuhong Pei; Natalie Deuitch; Stephen Brooks; Jehad H Edwan; Sarita Joshi; Seraina Prader; Daniela Kaiser; William C Owen; Abdullah Al Sonbul; Yu Zhang; Julie E Niemela; Shawn M Burgess; Manfred Boehm; Barbara Rehermann; JaeJin Chae; Martha M Quezado; Amanda K Ombrello; Rebecca H Buckley; Alexi A Grom; Elaine F Remmers; Jana M Pachlopnik; Helen C Su; Gustavo Gutierrez-Cruz; Stephen M Hewitt; Raman Sood; Kimberly Risma; Katherine R Calvo; Sergio D Rosenzweig; Massimo Gadina; Markus Hafner; Hong-Wei Sun; Daniel L Kastner; Ivona Aksentijevich
Journal:  Ann Rheum Dis       Date:  2018-01-22       Impact factor: 19.103

Review 5.  Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.

Authors:  Julia Pazmandi; Artem Kalinichenko; Rico Chandra Ardy; Kaan Boztug
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

Review 6.  Diseases Associated with Defects in tRNA CCA Addition.

Authors:  Angelo Slade; Ribal Kattini; Chloe Campbell; Martin Holcik
Journal:  Int J Mol Sci       Date:  2020-05-27       Impact factor: 5.923

7.  Dual expression of CCA-adding enzyme and RNase T in Escherichia coli generates a distinct cca growth phenotype with diverse applications.

Authors:  Karolin Wellner; Marie-Theres Pöhler; Heike Betat; Mario Mörl
Journal:  Nucleic Acids Res       Date:  2019-04-23       Impact factor: 16.971

Review 8.  Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Authors:  David B Beck; Ivona Aksentijevich
Journal:  Front Immunol       Date:  2019-01-31       Impact factor: 7.561

Review 9.  Update on Infections in Primary Antibody Deficiencies.

Authors:  Yesim Yilmaz Demirdag; Sudhir Gupta
Journal:  Front Immunol       Date:  2021-02-11       Impact factor: 7.561

Review 10.  Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.

Authors:  Mathieu P Rodero; Yanick J Crow
Journal:  J Exp Med       Date:  2016-11-07       Impact factor: 14.307
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