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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1999-3-31
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pubmed:databankReference |
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AC006088,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF006086,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/H73417,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/M21812,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/M23114,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/M23115,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/M25488,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P11508,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P11606,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P11719,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P12947,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P16614,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P16615,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P17403,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P36873,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P38759,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P43490,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/P47914,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/Q00779,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/Q93084,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/U49083,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/U80218,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/U96781,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/X15940,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/X74008
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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.
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pubmed:grant |
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pubmed:commentsCorrections |
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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:month |
Mar
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:BurgeSS,
pubmed-author:CarterSS,
pubmed-author:CraddockNN,
pubmed-author:HovnanianAA,
pubmed-author:JacobsenNN,
pubmed-author:KucherlapatiRR,
pubmed-author:LathropG MGM,
pubmed-author:LunaC MCM,
pubmed-author:MonacoA PAP,
pubmed-author:MunroC SCS,
pubmed-author:O'DonovanMM,
pubmed-author:OwenMM,
pubmed-author:ReadJ WJW,
pubmed-author:Ruiz-PerezVV,
pubmed-author:SakuntabhaiAA,
pubmed-author:SmithMM,
pubmed-author:StrachanTT
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
271-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
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pubmed:year |
1999
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pubmed:articleTitle |
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
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pubmed:affiliation |
The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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