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231224s2017 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2016.11.004
|2 doi
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|a pubmed24n0887.xml
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|a (DE-627)NLM266279368
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|a (NLM)27856304
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|a (PII)S1521-6616(16)30593-9
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Ueki, Masahiro
|e verfasserin
|4 aut
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| 245 |
1 |
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|a A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases
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|c 2017
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 13.06.2017
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|a Date Revised 06.02.2018
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2016 Elsevier Inc. All rights reserved.
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|a Heterozygous dominant-negative mutations of STAT1 are responsible for autosomal-dominant Mendelian susceptibility to mycobacterial diseases (AD-MSMD). So far, only 7 mutations have been previously described and are localized to 3 domains: the DNA-binding domain, the SH2 domain, and the tail segment. In this study, we demonstrated the first coiled-coil domain (CCD) mutation of c.749G>C, p.G250A (G250A) in STAT1 as a genetic cause of AD-MSMD in a patient with mycobacterial multiple osteomyelitis. This de novo heterozygous mutation was shown to have a dominant-negative effect on the gamma-activated sequence (GAS) transcriptional activity following IFN-γ stimulation, which could be attributable to the abolished phosphorylation of STAT1 from the wild-type (WT) allele. The three-dimensional structure of STAT1 revealed the G250 residue was located distant from a cluster of residues affected by gain-of-function mutations responsible for chronic mucocutaneous candidiasis
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4 |
|a Case Reports
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|a Journal Article
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| 650 |
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4 |
|a Research Support, Non-U.S. Gov't
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| 650 |
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4 |
|a Autosomal-dominant Mendelian susceptibility to mycobacterial diseases (AD-MSMD)
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| 650 |
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4 |
|a Coiled-coil domain
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| 650 |
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4 |
|a Dominant negative
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| 650 |
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4 |
|a Multifocal osteomyelitis
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| 650 |
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4 |
|a STAT1
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| 650 |
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7 |
|a STAT1 Transcription Factor
|2 NLM
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| 650 |
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7 |
|a STAT1 protein, human
|2 NLM
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| 700 |
1 |
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|a Yamada, Masafumi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ito, Kenta
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Tozawa, Yusuke
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Morino, Saeko
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Horikoshi, Yuho
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Takada, Hidetoshi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Abdrabou, Shimaa Said Mohamed Ali
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Takezaki, Shunichiro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kobayashi, Ichiro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ariga, Tadashi
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 174(2017) vom: 04. Jan., Seite 24-31
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
8 |
|g volume:174
|g year:2017
|g day:04
|g month:01
|g pages:24-31
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| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2016.11.004
|3 Volltext
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|a GBV_ILN_11
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|a GBV_ILN_24
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|a GBV_ILN_350
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|a AR
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|d 174
|j 2017
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|h 24-31
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