Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of systemic mastocytosis with unusual clinical manifestations, appearing as an isolated splenohepatomegaly, is described. The proliferative character is evident from the cytological characteristics of immaturity and the presence of a moderate percentage of mast cells in the peripheral blood. These cells make up 40% of the total cells in the bone marrow. Special attention is given to the optical, morphological, cytochemical, and ultrastructural studies of the disease. Some anomalies were found at the subcellular level which apparetnly have not been recorded until present. Various dyshematopoietic features of this case are reported, which may be considered as manifestations of a paraneoplastic syndrome.
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PMID:Systemic mastocytosis: a case report. Cytological, cytochemical and ultrastructural considerations. 41 10

Desmosomal cadherins are essential cell adhesion molecules expressed in the epidermis. We identified a mutation of a cadherin superfamily member, namely, desmoglein 4 (Dsg4), in early onset of death (EOD)( hage ) mice with hypotrichosis. The mutation was induced by the insertion of an early transposon II-beta into intron 8 of Dsg4. Mast cell hyperplasia was observed in the skin of EOD( hage ) mice. The abnormally expanded population of lpr T cells, i.e., CD4(-)CD8(-)B220(+)Thy1.2(+) alphabetaT cells, in the splenocytes of EOD mice was reduced in EOD( hage ) mice. Therefore, it was suspected that the long-living mutant EOD( hage ) mice were selected from lupus-prone EOD mice because of their immunological immaturity. These findings clearly indicate that Dsg4 is an important molecule for the formation of hair follicles and hypothesize that unorganized hyperplastic hair follicles in anagen due to the Dsg4 mutation provide niches for mast cell precursors in the skin.
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PMID:Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice. 1867 69