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Biomedical subjects

C Fritzsch

Publications and source records attributed to C Fritzsch.

21 records · Page 2Linked to original sources

[Schimmelpenning-Feuerstein-Mims syndrome and its neurologic manifestations. 6 personal cases and review of the literature].

The Schimmelpenning-Feuerstein-Mims-syndrome includes deformities and dysplasias of the skin, eyes, brain, skeleton, and heart. It may result from a malformation of the ectodermal and mesodermal blastoderm in the third week of gestation. We here report on 6 patients who presented between 1977 and 1993 in comparison with those cases in the literature. All children presented neurologic symptoms. The major symptom was a linear epidermal nevus. In addition we found mental retardation, convulsions, asymmetries of the cranial structures or dilated cerebral ventricles ipsilateral to the nevus. One child had a defect of the skull and scalp, a symptom not previously mentioned in the literature. Our patients exhibited a wide phenotypice spectrum ranging from mild to severe forms. Severe neurological symptoms were also found in patients despite minimal dermal involvement.

Abnormalities, Multiple↗

Absolute beta-catenin concentrations in Wnt pathway-stimulated and non-stimulated cells.

The intracellular level of the proto-oncoprotein beta-catenin is a parameter for the activity of the Wnt pathway, which has been linked to carcinogenesis. The paper introduces a novel sandwich-based ELISA for the determination of the beta-catenin concentration in lysates from cells or tissues. The advantages of the method were proven by determining beta-catenin levels in cell lines and in cells after activation of the Wnt pathway. Analysis revealed high beta-catenin concentrations in the cell lines HeLa, KB, HT1080, MCF-7, U-87 and U-373, which had not been described before. Beta-catenin concentrations were compared in HEK293 and C57MG cells after activation of the Wnt pathway. The beta-catenin concentrations increased by different factors depending on whether the Wnt pathway was activated by incubation with LiCl or with Wnt-3a-conditioned medium. This finding indicated that the beta-catenin level depends on the way and level of Wnt pathway activation. The quantitative analysis of beta-catenin in colorectal tumours revealed high beta-catenin levels in tumours with truncating mutations in the APC gene.

Cell Line↗