caa a22 4500 469080132 CHVBK 20180323132947.0 cr unu---uuuuu 170328e19920801xx s 000 0 eng 10.1007/BF00569330 doi (NATIONALLICENCE)springer-10.1007/BF00569330 Epidermolysis bullosa simplex: Expression of gelatinase activity in cultured human skin fibroblasts [Elektronische Daten] [Jan-Olof Winberg, Tobias Gedde-Dahl Jr.] We have measured the baseline level of gelatinase in fibroblast-conditioned medium from 41 Scandinavian individuals. They comprised 12 healthy persons, 11 individuals with the skin disorder dominant epidermolysis bullosa simplex (DEBS), 16 patients with other types of epidermolysis bullosa (EB) and 2 siblings with prolidase deficiency. These results divide the cell strains into those with low and those with high activity levels. Although this dual biochemical trait occurred in all the groups of individuals, the high-activity trait was more frequent among the DEBS patients. The localized DEBS forms showed an elevated activity level, in contrast to the previously reported generalized DEBS Köbner forms. Although a high level was found in some individuals with other EB forms, the high incidence in four families with localized DEBS Weber-Cockayne (eight of eight) and a single family with generalized DEBS—mottled pigmentation (two of two) may result from a close linkage between an EB gene and a gene responsible for the biochemical trait. In addition, in the single complete family tested, the level of gelatinase activity in cultured fibroblasts seemed to be regulated by codominant alleles or genes. A raised baseline level of gelatinase activity in cultured skin fibroblasts may be the result of either an altered expression of gelatinase or an allelic variant of this enzyme with increased specific activity. Further studies of gelatinase in cultured fibroblasts may provide insight into the regulatory mechanism and genetics behind this activity and allow formal linkage studies versus DEBS. Plenum Publishing Corporation, 1992 epidermolysis bullosa nationallicence gelatinase nationallicence collagenase nationallicence human skin fibroblasts nationallicence Winberg Jan-Olof Polar Institute of Medical Genetics, Regional Hospital and University of Tromsö, Tromsö, Norway aut Gedde-Dahl Jr. Tobias Polar Institute of Medical Genetics, Regional Hospital and University of Tromsö, Tromsö, Norway aut Biochemical Genetics Kluwer Academic Publishers-Plenum Publishers 30/7-8(1992-08-01), 401-420 0006-2928 30:7-8<401 1992 30 10528 https://doi.org/10.1007/BF00569330 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00569330 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Winberg Jan-Olof Polar Institute of Medical Genetics, Regional Hospital and University of Tromsö, Tromsö, Norway aut NATIONALLICENCE 700 1- Gedde-Dahl Jr Tobias Polar Institute of Medical Genetics, Regional Hospital and University of Tromsö, Tromsö, Norway aut NATIONALLICENCE 773 0- Biochemical Genetics Kluwer Academic Publishers-Plenum Publishers 30/7-8(1992-08-01), 401-420 0006-2928 30:7-8<401 1992 30 10528 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer