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  Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome

Nekrep, N., Jabrane-Ferrat, N., Wolf, H. M., Eibl, M. M., Geyer, M., & Peterlin, M. (2002). Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. Nature Immunology, 3(11), 1075-1081. doi:10.1038/ni840.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0029-74DC-8 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0029-74DD-6
Genre: Journal Article
Alternative Title : Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome

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NatImmunol_3_2002_1075.pdf (Any fulltext), 763KB
 
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http://www.nature.com/ni/journal/v3/n11/pdf/ni840.pdf (Any fulltext)
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 Creators:
Nekrep, Nada, Author
Jabrane-Ferrat, Nabila, Author
Wolf, Hermann M., Author
Eibl, Martha M., Author
Geyer, Matthias1, Author           
Peterlin, Matija, Author
Affiliations:
1Emeritus Group Biophysics, Max Planck Institute for Medical Research, Max Planck Society, ou_1497712              

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 Abstract: Bare lymphocyte syndrome (BLS) is an autosomal recessive severe-combined immunodeficiency that can result from mutations in four different transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. We have identified here the defective gene that is responsible for the phenotype of the putative fifth BLS complementation group. The mutation was found in the regulatory factor that binds X-box 5 (RFX5) and was mapped to one of the arginines in a DNA-binding surface of this protein. Its wild-type counterpart restored binding of the RFX complex to DNA, transcription of all MHC class II genes and the appearance of these determinants on the surface of BLS cells.

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Language(s): eng - English
 Dates: 2002-06-192002-08-262002-09-302002-11
 Publication Status: Issued
 Pages: 7
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 666076
DOI: 10.1038/ni840
URI: http://www.ncbi.nlm.nih.gov/pubmed/12368908
URI: http://www.nature.com/ni/journal/v3/n11/full/ni840.html
Other: 5388
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Title: Nature Immunology
  Other : Nat. Immunol.
Source Genre: Journal
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Publ. Info: New York, NY : Nature America Inc.
Pages: - Volume / Issue: 3 (11) Sequence Number: - Start / End Page: 1075 - 1081 Identifier: ISSN: 1529-2908
CoNE: https://pure.mpg.de/cone/journals/resource/974392607073