| pubmed-article:7651536 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0002395 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0439849 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0008651 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0276496 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0599155 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0079429 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0445223 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C0598429 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C1552599 | lld:lifeskim |
| pubmed-article:7651536 | lifeskim:mentions | umls-concept:C1704787 | lld:lifeskim |
| pubmed-article:7651536 | pubmed:issue | 6543 | lld:pubmed |
| pubmed-article:7651536 | pubmed:dateCreated | 1995-9-27 | lld:pubmed |
| pubmed-article:7651536 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7651536 | pubmed:abstractText | We report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence similarity to the S182 gene on chromosome 14q24.3. Mutations, including three new missense mutations in the S182 gene, are associated with the AD3 subtype of early-onset familial Alzheimer's disease (AD). Both the E5-1 and the S182 proteins are predicted to be integral membrane proteins with seven membrane-spanning domains, and a large exposed loop between the sixth and seventh transmembrane domains. Analysis of the nucleotide sequence of the open reading frame (ORF) of the E5-1 gene led to the discovery of two missense substitutions at conserved amino-acid residues in affected members of pedigrees with a form of familial AD that has a later age of onset than the AD3 subtype (50-70 years versus 30-60 years for AD3). These observations imply that the E5-1 gene on chromosome 1 and the S182 gene on chromosome 14q24.3 are members of a family of genes (presenilins) with related functions, and indicates that mutations in conserved residues of E5-1 could also play a role in the genesis of AD. Our results also indicate that still other AD susceptibility genes exist. | lld:pubmed |
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| pubmed-article:7651536 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7651536 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7651536 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:7651536 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7651536 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:7651536 | pubmed:issn | 0028-0836 | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:LiuJJ | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:IkedaMM | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:TsudaTT | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:ChoFF | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:LiangYY | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:LevesqueGG | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:RogaevE IEI | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:HolmanKK | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:RogaevaE AEA | lld:pubmed |
| pubmed-article:7651536 | pubmed:author | pubmed-author:SherringtonRR | lld:pubmed |
| pubmed-article:7651536 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7651536 | pubmed:day | 31 | lld:pubmed |
| pubmed-article:7651536 | pubmed:volume | 376 | lld:pubmed |
| pubmed-article:7651536 | pubmed:geneSymbol | E5-1 | lld:pubmed |
| pubmed-article:7651536 | pubmed:geneSymbol | S182 | lld:pubmed |
| pubmed-article:7651536 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7651536 | pubmed:authorsComplete | N | lld:pubmed |
| pubmed-article:7651536 | pubmed:pagination | 775-8 | lld:pubmed |
| pubmed-article:7651536 | pubmed:dateRevised | 2010-5-27 | lld:pubmed |
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| pubmed-article:7651536 | pubmed:year | 1995 | lld:pubmed |
| pubmed-article:7651536 | pubmed:articleTitle | Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. | lld:pubmed |
| pubmed-article:7651536 | pubmed:affiliation | Department of Medicine (Neurology), University of Toronto, Ontario, Canada. | lld:pubmed |
| pubmed-article:7651536 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7651536 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:7651536 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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