Linked Life Data

2104504

Source:http://linkedlifedata.com/resource/pubmed/id/2104504

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2 Pt 1
pubmed:dateCreated
1990-4-25
pubmed:abstractText
Of 84 patients with dystrophic forms of epidermolysis bullosa consecutively enrolled in the National Epidermolysis Bullosa Registry, four were noted by indirect immunofluorescence with the LH 7:2 monoclonal antibody to have granular basilar keratinocyte intracytoplasmic deposits, rather than exclusively linear basement membrane deposits, of type VII collagen. Indirect immunoelectron microscopy demonstrated that these deposits were primarily perinuclear, although lesser amounts were also detectable between tonofibril bundles, within hemidesmosomes, and within and beneath the lamina densa. In two patients the mode of transmission was autosomal dominant; in two others the inheritance pattern was unknown. Whereas widespread lesions were present at birth, in each case blistering ceased within the first year of life, reminiscent of the findings in transient bullous dermolysis of the newborn. We interpret these laboratory findings as indicative of the presence of a defect in the intracytoplasmic packaging or in the transport of type VII collagen within basilar keratinocytes.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0190-9622
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
188-95
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa.
pubmed:affiliation
Department of Dermatology, University of Alabama School of Medicine, Birmingham.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.