Linked Life Data

16255378

Source:http://linkedlifedata.com/resource/pubmed/id/16255378

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
37
pubmed:dateCreated
2005-10-31
pubmed:databankReference
pubmed:abstractText
Hailey-Hailey disease, or chronic benign pemphigus (MIM# 169600), is a genodermatosis arising in adult age with recurrent vesicles and erosions primarily in the flexural areas. It is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion in the suprabasal layers of the epidermis. ATP2C1, encoding the human secretory pathway Ca(2+)-ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey disease. More than 82 different ATP2C1 mutations have been described up to date. In this study, a case of Hailey-Hailey disease is presented where a nucleotide change (1402C > T) in the decoding region of ATP2C1 resulted in a premature stop mutation (R468X). This defect has been reported earlier in a patient of European descent. A brief molecular genetic review of the disorder is also given.
pubmed:language
hun
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0030-6002
pubmed:author
pubmed:issnType
Print
pubmed:day
11
pubmed:volume
146
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1933-5
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary].
pubmed:affiliation
Baranya Megyei Kórház, Központi Laboratórium, Pécs.
pubmed:publicationType
Journal Article, English Abstract, Case Reports