Literature DB >> 11768393

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).

I Kobayashi, R Shiari, M Yamada, N Kawamura, M Okano, A Yara, A Iguchi, N Ishikawa, T Ariga, Y Sakiyama, H D Ochs, K Kobayashi.   

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Year:  2001        PMID： 11768393      PMCID： PMC1734795          DOI： 10.1136/jmg.38.12.874

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  37 in total

1.  Paradoxically increased FOXP3+ T cells in IBD do not preferentially express the isoform of FOXP3 lacking exon 2.

Authors:  James D Lord; Karine Valliant-Saunders; Hejin Hahn; Richard C Thirlby; Steven F Ziegler
Journal:  Dig Dis Sci       Date:  2012-06-27       Impact factor: 3.199

2.  Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Authors:  Lauri M Burroughs; Troy R Torgerson; Rainer Storb; Paul A Carpenter; David J Rawlings; Jean Sanders; Andrew M Scharenberg; Suzanne Skoda-Smith; Janet Englund; Hans D Ochs; Ann E Woolfrey
Journal:  J Allergy Clin Immunol       Date:  2010-11       Impact factor: 10.793

3.  Foxp3 promoter polymorphism (rs3761548) in breast cancer progression: a study from India.

Authors:  Parveen Jahan; V R Vinish Ramachander; G Maruthi; S Nalini; K Prasanna Latha; T S R Murthy
Journal:  Tumour Biol       Date:  2013-12-13

4.  Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.

Authors:  David T Okou; Kajari Mondal; William A Faubion; Lisa J Kobrynski; Lee A Denson; Jennifer G Mulle; Dhanya Ramachandran; Yuning Xiong; Phyllis Svingen; Viren Patel; Promita Bose; Jon P Waters; Sampath Prahalad; David J Cutler; Michael E Zwick; Subra Kugathasan
Journal:  J Pediatr Gastroenterol Nutr       Date:  2014-05       Impact factor: 2.839

5.  Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells.

Authors:  Hozefa S Bandukwala; Yongqing Wu; Markus Feuerer; Yongheng Chen; Bianca Barboza; Srimoyee Ghosh; James C Stroud; Christophe Benoist; Diane Mathis; Anjana Rao; Lin Chen
Journal:  Immunity       Date:  2011-03-31       Impact factor: 31.745

Review 6.  Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Authors:  R S Wildin; S Smyk-Pearson; A H Filipovich
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

7.  Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Authors:  Yuya Hashimura; Kandai Nozu; Hirokazu Kanegane; Toshio Miyawaki; Akira Hayakawa; Norishige Yoshikawa; Koichi Nakanishi; Minoru Takemoto; Kazumoto Iijima; Masafumi Matsuo
Journal:  Pediatr Nephrol       Date:  2009-02-03       Impact factor: 3.714

8.  Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.

Authors:  Inas H Thomas; Natinder K Saini; Amita Adhikari; Joyce M Lee; Josephine Z Kasa-Vubu; Delia M Vazquez; Ram K Menon; Ming Chen; Stefan S Fajans
Journal:  Pediatr Diabetes       Date:  2009-06-03       Impact factor: 4.866

Review 9.  FOXP3: genetic and epigenetic implications for autoimmunity.

Authors:  Hiroto Katoh; Pan Zheng; Yang Liu
Journal:  J Autoimmun       Date:  2013-01-11       Impact factor: 7.094

10.  Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Authors:  Oscar Rubio-Cabezas; Jayne A L Minton; Richard Caswell; Julian P Shield; Dorothee Deiss; Zdenek Sumnik; Amely Cayssials; Mathias Herr; Anja Loew; Vaughan Lewis; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2008-10-17       Impact factor: 17.152
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