X-ray-sensitivity of lymphocytes of aplastic- and Diamond-Blackfan-anemia patients as detected by conventional cytogenetic and chromosome painting techniques.

Frequencies of spontaneously occurring and X-ray induced, stable and unstable types of chromosome aberrations in peripheral blood lymphocytes from two groups of radiosensitive patients, i.e., aplastic anemia (AA) and Diamond-Blackfan anemia (DBA), were determined.

Influence of smoking habits on the frequencies of structural and numerical chromosomal aberrations in human peripheral blood lymphocytes using the fluorescence in situ hybridization (FISH) technique.

The influence of smoking on the spontaneous frequencies of unstable and stable chromosomal aberrations in stimulated lymphocytes using conventional Giemsa staining and fluorescence in situ hybridization (FISH) was studied. The study groups consisted of 12 smokers and 30 nonsmokers. The frequency of translocations was determined using nine different chromosome-specific DNA libraries, representing approximately 50% of the human genome, usually in a combination of two to three chromosomes in one cocktail.

In vivo and in vitro detachment of proximal tubular cells and F-actin damage: consequences for renal function.

We investigated the relationship between F-actin damage and cell detachment using nephrotoxic L-cysteine S-conjugates. In vivo S-(1,2-dichlorovinyl)-L-cysteine (DCVC) induced loss of F-actin in the S3 segment of the proximal tubule in the outer stripe of the outer medulla, which was associated with loss of the brush border and loss of cells from the basement membrane. In vitro DCVC caused the detachment of primary cultured rat renal proximal tubular cells (PTC), which was clearly associated with F-actin damage.

Evaluation of nephrotoxicity in vitro using a suspension of highly purified porcine proximal tubular cells and characterization of the cells in primary culture.

Proximal tubular cells (PTC) were isolated from porcine kidney by collagenase treatment, subsequently purified on a discontinuous density gradient and finally cultured. Porcine PTC (PPTC) in primary culture expressed keratin, characteristics of epithelia and brush border specific glycoproteins (FX1A). In addition, vimentin was present.

Haemophilia B Leyden: the effect of mutations at position +13 on the liver-specific transcription of the factor IX gene.

Haemophilia B Leyden is characterized by low plasma levels (< or = 1-13% of normal) of blood coagulation factor IX during childhood. After the onset of puberty, plasma factor IX levels gradually rise, probably under the influence of androgens. Single point mutations have been detected in the factor IX promoter at -21, -20, -6, -5, +6, +8 and +13.