| pubmed-article:12958596 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12958596 | lifeskim:mentions | umls-concept:C0034865 | lld:lifeskim |
| pubmed-article:12958596 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:12958596 | lifeskim:mentions | umls-concept:C0021027 | lld:lifeskim |
| pubmed-article:12958596 | lifeskim:mentions | umls-concept:C0077845 | lld:lifeskim |
| pubmed-article:12958596 | lifeskim:mentions | umls-concept:C0221099 | lld:lifeskim |
| pubmed-article:12958596 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:12958596 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:12958596 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:12958596 | pubmed:dateCreated | 2003-9-29 | lld:pubmed |
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| pubmed-article:12958596 | pubmed:abstractText | Activation-induced cytidine deaminase (AID) is a 'master molecule' in immunoglobulin (Ig) class-switch recombination (CSR) and somatic hypermutation (SHM) generation, AID deficiencies are associated with hyper-IgM phenotypes in humans and mice. We show here that recessive mutations of the gene encoding uracil-DNA glycosylase (UNG) are associated with profound impairment in CSR at a DNA precleavage step and with a partial disturbance of the SHM pattern in three patients with hyper-IgM syndrome. Together with the finding that nuclear UNG expression was induced in activated B cells, these data support a model of CSR and SHM in which AID deaminates cytosine into uracil in targeted DNA (immunoglobulin switch or variable regions), followed by uracil removal by UNG. | lld:pubmed |
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| pubmed-article:12958596 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12958596 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12958596 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12958596 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12958596 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12958596 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:12958596 | pubmed:issn | 1529-2908 | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:FischerAlainA | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:OchsHans DHD | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:NonoyamaShige... | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:YelLemanL | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:KrokanHans... | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:KavliBodilB | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:SlupphaugGeir... | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:ImaiKohsukeK | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:RevyPatrickP | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:CatalanNadiaN | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:DurandyAnneA | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:ForveilleMoni... | lld:pubmed |
| pubmed-article:12958596 | pubmed:author | pubmed-author:LeeWen-IWI | lld:pubmed |
| pubmed-article:12958596 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12958596 | pubmed:volume | 4 | lld:pubmed |
| pubmed-article:12958596 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12958596 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12958596 | pubmed:pagination | 1023-8 | lld:pubmed |
| pubmed-article:12958596 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:12958596 | pubmed:meshHeading | pubmed-meshheading:12958596... | lld:pubmed |
| pubmed-article:12958596 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:12958596 | pubmed:articleTitle | Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. | lld:pubmed |
| pubmed-article:12958596 | pubmed:affiliation | Institut National de la Santé et de la Recherche Médicale Unité 429, Hôpital Necker-Enfants Malades, 75015 Paris, France. | lld:pubmed |
| pubmed-article:12958596 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12958596 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:12958596 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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