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rdf:type |
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lifeskim:mentions |
umls-concept:C0006675,
umls-concept:C0023688,
umls-concept:C0136073,
umls-concept:C0542341,
umls-concept:C0596988,
umls-concept:C0917877,
umls-concept:C1167322,
umls-concept:C1425349,
umls-concept:C1709060,
umls-concept:C2752508,
umls-concept:C2936267
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pubmed:issue |
6
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pubmed:dateCreated |
2010-12-7
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pubmed:abstractText |
TNFRSF13B, which encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), is mutated in 10% of patients with common variable immunodeficiency. One of the 2 most common TACI mutations in common variable immunodeficiency, C104R, abolishes ligand binding and is found predominantly in the heterozygous state. The murine TACI mutant C76R is the equivalent of the human TACI mutant C104R.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1097-6825
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2010 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
126
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1234-41.e2
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
pubmed-meshheading:20889194-Animals,
pubmed-meshheading:20889194-Antibody Formation,
pubmed-meshheading:20889194-B-Lymphocytes,
pubmed-meshheading:20889194-Cell Proliferation,
pubmed-meshheading:20889194-Cells, Cultured,
pubmed-meshheading:20889194-Common Variable Immunodeficiency,
pubmed-meshheading:20889194-Ficoll,
pubmed-meshheading:20889194-Haploinsufficiency,
pubmed-meshheading:20889194-Humans,
pubmed-meshheading:20889194-Mice,
pubmed-meshheading:20889194-Mice, Inbred C57BL,
pubmed-meshheading:20889194-Mice, Transgenic,
pubmed-meshheading:20889194-Mutant Proteins,
pubmed-meshheading:20889194-Mutation,
pubmed-meshheading:20889194-Transmembrane Activator and CAML Interactor Protein,
pubmed-meshheading:20889194-Trinitrobenzenes
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pubmed:year |
2010
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pubmed:articleTitle |
The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency.
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pubmed:affiliation |
Division of Immunology, Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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