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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2010-11-24
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pubmed:abstractText |
Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function. Nonsense mutations in the affected CD18 (ITB2) gene have rarely been described. In other genes containing such mutations, treatments with aminoglycoside types of antibiotics (e.g., gentamicin) were reported to partially correct the premature protein termination, by induction of readthrough mechanism.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1932-6203
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
e13659
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pubmed:meshHeading |
pubmed-meshheading:21103413-Antigens, CD18,
pubmed-meshheading:21103413-Blotting, Western,
pubmed-meshheading:21103413-Cell Line, Transformed,
pubmed-meshheading:21103413-Cells, Cultured,
pubmed-meshheading:21103413-Codon, Nonsense,
pubmed-meshheading:21103413-Cytoplasm,
pubmed-meshheading:21103413-Fatal Outcome,
pubmed-meshheading:21103413-Gentamicins,
pubmed-meshheading:21103413-Humans,
pubmed-meshheading:21103413-Infant,
pubmed-meshheading:21103413-Leukocyte-Adhesion Deficiency Syndrome,
pubmed-meshheading:21103413-Lymphocytes,
pubmed-meshheading:21103413-Male,
pubmed-meshheading:21103413-Microscopy, Fluorescence,
pubmed-meshheading:21103413-Models, Molecular,
pubmed-meshheading:21103413-Protein Biosynthesis,
pubmed-meshheading:21103413-Protein Conformation,
pubmed-meshheading:21103413-Protein Synthesis Inhibitors
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pubmed:year |
2010
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pubmed:articleTitle |
The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients.
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pubmed:affiliation |
Cancer Research Center, Chaim Sheba Medical Center, Tel Hashomer, Israel.
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pubmed:publicationType |
Journal Article,
Case Reports
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