Literature DB >> 8541866

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.

C Tassara1, A E Pepper, J M Puck.   

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Year:  1995        PMID： 8541866     DOI： 10.1093/hmg/4.9.1693

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  6 in total

1.  Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient.

Authors:  Tomoki Kawai; Megumu Saito; Ryuta Nishikomori; Takahiro Yasumi; Kazushi Izawa; Tomohiko Murakami; Shigefumi Okamoto; Yasuko Mori; Noriko Nakagawa; Kohsuke Imai; Shigeaki Nonoyama; Taizo Wada; Akihiro Yachie; Katsuyuki Ohmori; Tatsutoshi Nakahata; Toshio Heike
Journal:  J Clin Immunol       Date:  2012-03-30       Impact factor: 8.317

2.  X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

Authors:  C L Bennett; R Yoshioka; H Kiyosawa; D F Barker; P R Fain; A O Shigeoka; P F Chance
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

Review 3.  Exome and genome sequencing for inborn errors of immunity.

Authors:  Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2016-10       Impact factor: 10.793

4.  Humanized Rag1-/- γc-/- mice support multilineage hematopoiesis and are susceptible to HIV-1 infection via systemic and vaginal routes.

Authors:  Ramesh Akkina; Bradford K Berges; Brent E Palmer; Leila Remling; C Preston Neff; Jes Kuruvilla; Elizabeth Connick; Joy Folkvord; Kathy Gagliardi; Afework Kassu; Sarah R Akkina
Journal:  PLoS One       Date:  2011-06-14       Impact factor: 3.240

Review 5.  The utility of the new generation of humanized mice to study HIV-1 infection: transmission, prevention, pathogenesis, and treatment.

Authors:  Bradford K Berges; Mark R Rowan
Journal:  Retrovirology       Date:  2011-08-11       Impact factor: 4.602

6.  What we are learning on HTLV-1 pathogenesis from animal models.

Authors:  Madeleine Duc Dodon; Julien Villaudy; Louis Gazzolo; Robyn Haines; Michael Lairmore
Journal:  Front Microbiol       Date:  2012-08-31       Impact factor: 5.640
  6 in total

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