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| pubmed-article:10080178 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
| pubmed-article:10080178 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:10080178 | pubmed:dateCreated | 1999-3-31 | lld:pubmed |
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| pubmed-article:10080178 | pubmed:abstractText | Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis. | lld:pubmed |
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| pubmed-article:10080178 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10080178 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10080178 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10080178 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:10080178 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10080178 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:10080178 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:SmithMM | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:JacobsenNN | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:MonacoA PAP | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:O'DonovanMM | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:KucherlapatiR... | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:CarterSS | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:OwenMM | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:MunroC SCS | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:StrachanTT | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:ReadJ WJW | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:BurgeSS | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:HovnanianAA | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:SakuntabhaiAA | lld:pubmed |
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| pubmed-article:10080178 | pubmed:author | pubmed-author:CraddockNN | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:LunaC MCM | lld:pubmed |
| pubmed-article:10080178 | pubmed:author | pubmed-author:Ruiz-PerezVV | lld:pubmed |
| pubmed-article:10080178 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10080178 | pubmed:volume | 21 | lld:pubmed |
| pubmed-article:10080178 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10080178 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10080178 | pubmed:pagination | 271-7 | lld:pubmed |
| pubmed-article:10080178 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:10080178 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10080178 | pubmed:articleTitle | Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. | lld:pubmed |
| pubmed-article:10080178 | pubmed:affiliation | The Wellcome Trust Centre for Human Genetics, University of Oxford, UK. | lld:pubmed |
| pubmed-article:10080178 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10080178 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:10080178 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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