Literature DB >> 20380930

The LCR at the IKBKG locus is prone to recombine.

Francesca Fusco, Michele D'Urso, Maria Giuseppina Miano, Matilde Valeria Ursini.   

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Year:  2010        PMID： 20380930      PMCID： PMC2850423          DOI： 10.1016/j.ajhg.2009.12.019

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  18 in total

Review 1.  Posttranslational modifications of NEMO and its partners in NF-kappaB signaling.

Authors:  Hélène Sebban; Shoji Yamaoka; Gilles Courtois
Journal:  Trends Cell Biol       Date:  2006-09-20       Impact factor: 20.808

2.  Inhibition of transcription factor NF-kappaB in the central nervous system ameliorates autoimmune encephalomyelitis in mice.

Authors:  Geert van Loo; Rossana De Lorenzi; Hauke Schmidt; Marion Huth; Alexander Mildner; Marc Schmidt-Supprian; Hans Lassmann; Marco R Prinz; Manolis Pasparakis
Journal:  Nat Immunol       Date:  2006-08-06       Impact factor: 25.606

Review 3.  NEMO, NFkappaB signaling and incontinentia pigmenti.

Authors:  David L Nelson
Journal:  Curr Opin Genet Dev       Date:  2006-05-02       Impact factor: 5.578

4.  Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene.

Authors:  P Galgóczy; A Rosenthal; M Platzer
Journal:  Gene       Date:  2001-06-13       Impact factor: 3.688

5.  Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene.

Authors:  Francesca Fusco; Vincenzo Mercadante; Maria Giuseppina Miano; Matilde Valeria Ursini
Journal:  Gene       Date:  2006-08-02       Impact factor: 3.688

Review 6.  X-linked mental retardation.

Authors:  H-Hilger Ropers; Ben C J Hamel
Journal:  Nat Rev Genet       Date:  2005-01       Impact factor: 53.242

7.  Clinical study of 40 cases of incontinentia pigmenti.

Authors:  Smaïl Hadj-Rabia; David Froidevaux; Nathalie Bodak; Dominique Hamel-Teillac; Asma Smahi; Yasmina Touil; Sylvie Fraitag; Yves de Prost; Christine Bodemer
Journal:  Arch Dermatol       Date:  2003-09

8.  Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Authors:  A Smahi; G Courtois; P Vabres; S Yamaoka; S Heuertz; A Munnich; A Israël; N S Heiss; S M Klauck; P Kioschis; S Wiemann; A Poustka; T Esposito; T Bardaro; F Gianfrancesco; A Ciccodicola; M D'Urso; H Woffendin; T Jakins; D Donnai; H Stewart; S J Kenwrick; S Aradhya; T Yamagata; M Levy; R A Lewis; D L Nelson
Journal:  Nature       Date:  2000-05-25       Impact factor: 49.962

9.  Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.

Authors:  S Aradhya; T Bardaro; P Galgóczy; T Yamagata; T Esposito; H Patlan; A Ciccodicola; A Munnich; S Kenwrick; M Platzer; M D'Urso; D L Nelson
Journal:  Hum Mol Genet       Date:  2001-10-15       Impact factor: 6.150

10.  Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Authors:  Francesca Fusco; Tiziana Bardaro; Giorgia Fimiani; Vincenzo Mercadante; Maria Giuseppina Miano; Geppino Falco; Alain Israël; Gilles Courtois; Michele D'Urso; Matilde Valeria Ursini
Journal:  Hum Mol Genet       Date:  2004-06-30       Impact factor: 6.150
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  2 in total

1.  Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.

Authors:  G E Utine; P Ö Kiper; Y Alanay; G Haliloğlu; D Aktaş; K Boduroğlu; E Tunçbilek; M Alikaşifoğlu
Journal:  Mol Syndromol       Date:  2011-11-22

2.  Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses.

Authors:  Ming Chen; Wan-Ju Wu; Mei-Hui Lee; Tien-Hsiung Ku; Gwo-Chin Ma
Journal:  Genes (Basel)       Date:  2020-08-22       Impact factor: 4.096
  2 in total

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