Literature DB >> 23870671

Anhidrotic ectodermal dysplasia: a new mutation.

Gabriella Giancane1, Simona Ferrari, Rita Carsetti, Paola Papoff, Metello Iacobini, Marzia Duse.   

Abstract

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Year:  2013        PMID： 23870671     DOI： 10.1016/j.jaci.2013.05.034

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


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  7 in total

Review 1.  Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Authors:  Bertrand Boisson; Anne Puel; Capucine Picard; Jean-Laurent Casanova
Journal:  J Clin Immunol       Date:  2017-06-09       Impact factor: 8.317

Review 2.  IKK-related genetic diseases: probing NF-κB functions in humans and other matters.

Authors:  Anna Senegas; Jérémie Gautheron; Alice Gentil Dit Maurin; Gilles Courtois
Journal:  Cell Mol Life Sci       Date:  2014-11-29       Impact factor: 9.261

Review 3.  Advances in basic and clinical immunology in 2013.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

4.  Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.

Authors:  Enrica Ek Tan; Richard A Hopkins; Chrissie K Lim; Saumya S Jamuar; Christina Ong; Koh C Thoon; Mark Ja Koh; Eun Mong Shin; Derrick Wq Lian; Madhushanee Weerasooriya; Christopher Zw Lee; Andreas Alvin Pumomo Soetedjo; Chang Siang Lim; Veonice B Au; Edmond Chua; Hui Yin Lee; Leigh Ann Jones; Sharmy S James; Nivashini Kaliaperumal; Jeffery Kwok; Ee Shien Tan; Biju Thomas; Lynn Xue Wu; Lena Ho; Anna Marie Fairhurst; Florent Ginhoux; Adrian Kk Teo; Yong Liang Zhang; Kok Huar Ong; Weimiao Yu; Byrappa Venkatesh; Vinay Tergaonkar; Bruno Reversade; Keh Chuang Chin; Ah Moy Tan; Woei Kang Liew; John E Connolly
Journal:  J Clin Invest       Date:  2020-11-02       Impact factor: 14.808

5.  A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.

Authors:  Wen Wen; Li Wang; Mengyue Deng; Yue Li; Xuemei Tang; Huawei Mao; Xiaodong Zhao
Journal:  Genes Dis       Date:  2021-04-03

6.  Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Authors:  Charline Miot; Kohsuke Imai; Chihaya Imai; Anthony J Mancini; Zeynep Yesim Kucuk; Tokomki Kawai; Ryuta Nishikomori; Etsuro Ito; Isabelle Pellier; Sophie Dupuis Girod; Jeremie Rosain; Shinya Sasaki; Shanmuganathan Chandrakasan; Jana Pachlopnik Schmid; Tsubasa Okano; Estelle Colin; Alberto Olaya-Vargas; Marco Yamazaki-Nakashimada; Waseem Qasim; Sara Espinosa Padilla; Andrea Jones; Alfons Krol; Nyree Cole; Stephen Jolles; Jack Bleesing; Thomas Vraetz; Andrew R Gennery; Mario Abinun; Tayfun Güngör; Beatriz Costa-Carvalho; Antonio Condino-Neto; Paul Veys; Steven M Holland; Gulbu Uzel; Despina Moshous; Benedicte Neven; Stéphane Blanche; Stephan Ehl; Rainer Döffinger; Smita Y Patel; Anne Puel; Jacinta Bustamante; Erwin W Gelfand; Jean-Laurent Casanova; Jordan S Orange; Capucine Picard
Journal:  Blood       Date:  2017-07-05       Impact factor: 22.113

Review 7.  Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study.

Authors:  Hui Yu; Liangbin Lin; Zhiqiang Zhang; Huiyuan Zhang; Hongbo Hu
Journal:  Signal Transduct Target Ther       Date:  2020-09-21
  7 in total

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