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  • 1
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  26. Fortbildungswoche für praktische Dermatologie und Venerologie; 20180724-20180728; München; DOCP48 /20180716/
    Publication Date: 2018-07-17
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 2
    ISSN: 1432-069X
    Keywords: Psoriasis ; Keratin expression ; Hyperproliferation ; Köbner effect
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Keratin expression in lesional, marginal and uninvolved psoriatic epidermis was analysed by one- and two-dimensional gel electrophoresis and immunoblotting. Keratins K1, K5, K6, K10, K14, and K16 were identified in lesional epidermis. Keratins K6 and K16 were found in all epidermis probes of uninvolved skin, but never occurred in normal epidermis of control skin samples. By means of laser-densitometric evaluation of one-dimensional gels a downregulation of K1 and K10 and an upregulation of K6 and K16 was found in psoriatic epidermis. Unexpectedly, the level of K5 was considerably lower and the level of K14 considerably higher in lesional skin than in normal epidermis. These results demonstrate that not only basal keratinocytes in lesional epidermis but also suprabasal keratinocytes in uninvolved psoriatic epidermis express an altered differentiation pattern. The latter phenomenon could be very important in understanding the development of the so-called “Köbner effect” in psoriatic epidermis.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Darier disease (DD) is with a frequency of up to 1 in 36,000 a relatively common genodermatosis with autosomal dominant inheritance and late age of onset. The progressive skin manifestations are variable, but often debilitating and disfiguring, and may be associated with a wide range of neuropsychiatric problems, such as epilepsy and depression. On histology, acantholysis and dyskeratosis are prominent findings, implicating impaired functionality of desmosomes. Recently, mutations in the ATP2A2 gene encoding SERCA2, a calcium pump of the endo/sacrcoplasmic reticulum, have been identified as the molecular basis of DD. This slow-twitched calcium ATPase has two splice variants, one of which is highly expressed in epidermis, and maintains low intracellular calcium levels by facilitating transport of cytosolic calcium into the endoplasmic reticulum. Thus, it may confer a direct effect on the established calcium-dependent assembly of desmosomes. We screened ATP2A2 in a cohort of 24 DD families using conformation sensitive gel electrophoresis and direct sequencing, and detected 14 distinct mutations, 9 of which were novel. The mutational spectrum included 9 missense mutations, 1 nonsense mutation, 3 small in-frame deletions, and a 19-basepair insertion. Mutations were scattered over the entire gene with a slight preponderance in the first 8 exons, and affected exclusively residues conserved among all SERCAs. In addition, we found 2 silent polymorphisms, 1 of which occurred in 4 unrelated families. Comparison of molecular data and phenotypic features, such as severity and type of disease, occurrence of mucosal involvement, or association with neuropsychiatric disorders, did not reveal an obvious genotype–phenotype correlation in our cohort.
    Type of Medium: Electronic Resource
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