Literature DB >> 32554083

Heterozygous IKKβ activation loop mutation results in a complex immunodeficiency syndrome.

Jordan Abbott1, Angelica C Ehler2, Divya Jayaraman3, Paul R Reynolds3, Kanao Otsu4, Laurie Manka4, Erwin W Gelfand3.   

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Year:  2020        PMID: 32554083      PMCID: PMC8176654          DOI: 10.1016/j.jaci.2020.06.007

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


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  9 in total

1.  Alteration of BIRC3 and multiple other NF-κB pathway genes in splenic marginal zone lymphoma.

Authors:  Davide Rossi; Silvia Deaglio; David Dominguez-Sola; Silvia Rasi; Tiziana Vaisitti; Claudio Agostinelli; Valeria Spina; Alessio Bruscaggin; Sara Monti; Michaela Cerri; Stefania Cresta; Marco Fangazio; Luca Arcaini; Marco Lucioni; Roberto Marasca; Catherine Thieblemont; Daniela Capello; Fabio Facchetti; Ivo Kwee; Stefano A Pileri; Robin Foà; Francesco Bertoni; Riccardo Dalla-Favera; Laura Pasqualucci; Gianluca Gaidano
Journal:  Blood       Date:  2011-08-31       Impact factor: 22.113

2.  Canonical NF-kappaB activity, dispensable for B cell development, replaces BAFF-receptor signals and promotes B cell proliferation upon activation.

Authors:  Yoshiteru Sasaki; Emmanuel Derudder; Elias Hobeika; Roberta Pelanda; Michael Reth; Klaus Rajewsky; Marc Schmidt-Supprian
Journal:  Immunity       Date:  2006-06       Impact factor: 31.745

3.  Differential role of the transcription factor NF-kappaB in selection and survival of CD4+ and CD8+ thymocytes.

Authors:  Eijiro Jimi; Ian Strickland; Reinhard E Voll; Meixiao Long; Sankar Ghosh
Journal:  Immunity       Date:  2008-10-17       Impact factor: 31.745

4.  Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Authors:  Eric P Hanson; Linda Monaco-Shawver; Laura A Solt; Lisa A Madge; Pinaki P Banerjee; Michael J May; Jordan S Orange
Journal:  J Allergy Clin Immunol       Date:  2008-10-11       Impact factor: 10.793

5.  IκB kinase β (IKBKB) mutations in lymphomas that constitutively activate canonical nuclear factor κB (NFκB) signaling.

Authors:  Xin Kai; Vasant Chellappa; Carlos Donado; Deepak Reyon; Yurie Sekigami; Dalya Ataca; Abner Louissaint; Hamid Mattoo; J Keith Joung; Shiv Pillai
Journal:  J Biol Chem       Date:  2014-08-08       Impact factor: 5.157

6.  Initial genome sequencing and analysis of multiple myeloma.

Authors:  Michael A Chapman; Michael S Lawrence; Jonathan J Keats; Kristian Cibulskis; Carrie Sougnez; Anna C Schinzel; Christina L Harview; Jean-Philippe Brunet; Gregory J Ahmann; Mazhar Adli; Kenneth C Anderson; Kristin G Ardlie; Daniel Auclair; Angela Baker; P Leif Bergsagel; Bradley E Bernstein; Yotam Drier; Rafael Fonseca; Stacey B Gabriel; Craig C Hofmeister; Sundar Jagannath; Andrzej J Jakubowiak; Amrita Krishnan; Joan Levy; Ted Liefeld; Sagar Lonial; Scott Mahan; Bunmi Mfuko; Stefano Monti; Louise M Perkins; Robb Onofrio; Trevor J Pugh; S Vincent Rajkumar; Alex H Ramos; David S Siegel; Andrey Sivachenko; A Keith Stewart; Suzanne Trudel; Ravi Vij; Douglas Voet; Wendy Winckler; Todd Zimmerman; John Carpten; Jeff Trent; William C Hahn; Levi A Garraway; Matthew Meyerson; Eric S Lander; Gad Getz; Todd R Golub
Journal:  Nature       Date:  2011-03-24       Impact factor: 49.962

7.  Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.

Authors:  Sílvia Beà; Rafael Valdés-Mas; Alba Navarro; Itziar Salaverria; David Martín-Garcia; Pedro Jares; Eva Giné; Magda Pinyol; Cristina Royo; Ferran Nadeu; Laura Conde; Manel Juan; Guillem Clot; Pedro Vizán; Luciano Di Croce; Diana A Puente; Mónica López-Guerra; Alexandra Moros; Gael Roue; Marta Aymerich; Neus Villamor; Lluís Colomo; Antonio Martínez; Alexandra Valera; José I Martín-Subero; Virginia Amador; Luis Hernández; Maria Rozman; Anna Enjuanes; Pilar Forcada; Ana Muntañola; Elena M Hartmann; María J Calasanz; Andreas Rosenwald; German Ott; Jesús M Hernández-Rivas; Wolfram Klapper; Reiner Siebert; Adrian Wiestner; Wyndham H Wilson; Dolors Colomer; Armando López-Guillermo; Carlos López-Otín; Xose S Puente; Elías Campo
Journal:  Proc Natl Acad Sci U S A       Date:  2013-10-21       Impact factor: 11.205

8.  Novel Lys63-linked ubiquitination of IKKβ induces STAT3 signaling.

Authors:  Leandro H Gallo; April N Meyer; Khatereh Motamedchaboki; Katelyn N Nelson; Martin Haas; Daniel J Donoghue
Journal:  Cell Cycle       Date:  2014       Impact factor: 4.534

9.  Gain-of-function IKBKB mutation causes human combined immune deficiency.

Authors:  Chelisa Cardinez; Bahar Miraghazadeh; Kay Tanita; Elizabeth da Silva; Akihiro Hoshino; Satoshi Okada; Rochna Chand; Takaki Asano; Miyuki Tsumura; Kenichi Yoshida; Hidenori Ohnishi; Zenichiro Kato; Masahide Yamazaki; Yusuke Okuno; Satoru Miyano; Seiji Kojima; Seishi Ogawa; T Daniel Andrews; Matthew A Field; Gaetan Burgio; Tomohiro Morio; Carola G Vinuesa; Hirokazu Kanegane; Matthew C Cook
Journal:  J Exp Med       Date:  2018-10-18       Impact factor: 14.307

  9 in total

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