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Biomedical subjects

J Wauters

Publications and source records attributed to J Wauters.

45 records · Page 3Linked to original sources
PubMed1991

DNA diagnosis of cystic fibrosis by direct detection of the delta F508 mutation.

Cystic fibrosis (CF) is one of the most frequent recessive disorders among Caucasians. DNA analysis is performed by linkage analysis with DNA markers tightly linked to the CF gene. Cloning and sequencing of the cystic fibrosis gene, however, revealed that the major disease mutation is a phenylalanine deletion at amino acid position 508 of the mature protein (delta F508). These recent discoveries open great perspectives for the diagnosis of cystic fibrosis and for the detection of carriers in the normal population. In the present study we have used the polymerase chain reaction to detect the delta F508 mutation. This mutation was present on 80.3% of the CF chromosomes in the Belgian population. Twenty-three of 740 normal individuals (3.1%) were heterozygous carriers. Therefore, the frequency of heterozygous carriers in the Belgian population is estimated to be about 3.9% or 1 in every 26 individuals.

Cystic Fibrosis↗
PubMed1982

Activation volumes for horseradish peroxidase compound II reactions.

The activation volumes for the reactions of horseradish peroxidase compound II with L-tyrosine, 3-iodo-L-tyrosine, p-aminobenzoic acid and ferrocyanide were determined by using a high-pressure stopped-flow technique at 25 degrees C and pH 7. For the tyrosines, the solvent electrostriction accompanying substrate ionization and H+ transfer from the substituted phenol to a basic group of the enzyme can account for the observed negative activation volumes. For p-aminobenzoic acid a simple electron transfer without H+ transfer appears to occur. The positive activation volume for ferrocyanide may be explained in terms of electron transfer associated with a large change in electrostriction of the inorganic redox couple.

Enzyme Activation↗
PubMed1981

Effects of pressure and temperature on the reactions of horseradish peroxidase with hydrogen cyanide and hydrogen peroxide.

Reactions of ferric horseradish peroxidase with hydrogen cyanide and hydrogen peroxide were studied as a function of pressure. Activation volumes are small and differ in sign (delta V = 1.7 +/- 0.5 ml/mol for peroxidase + HCN and -1.5 +/- 0.5 ml/mol for peroxidase + H2O2). The temperature dependence of cyanide binding to horseradish peroxidase was also determined. A comparison is made of relevant parameters for cyanide binding and compound I formation.

Enzyme Activation↗
PubMedDate not supplied

Using WWW and JAVA for image access and interactive viewing in an integrated PACS.

We start from the observations that (1) potential benefits from PACS can only be realized if PACS and HIS are integrated into a 'multimedia medical information system', and (2) that this also requires integration at the level of the user interface. The user interface should allow integrated interaction with information from different subsystems, of which PACS is one. However, in the real world, different information systems are constructed using different technologies. Moreover, radiological image viewing is a highly interactive task that puts a particular burden on the graphical user interface. We describe our experiences in applying technology emerging around the 'World Wide Web' (WWW) for interactive access to an integrated PACS/HIS. We illustrate the use of Web browsers to access new medical services, touch technologies for interactive access to HIS-PACS information, and emphasize the potential of JAVA applets. We argue that JAVA may become an important tool for providing highly interactive user interfaces to larger multimedia information systems. We discuss Web technology in the general context of HIS/PACS integration.

Archives↗
PubMedDate not supplied

Identification and characterization of a novel member of the EXT gene family, EXTL2.

Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described. Mutations in both genes are responsible for multiple exostosis syndrome (EXT), an autosomal dominant condition characterized by the presence of multiple osteochondromas, bony excrescences that sometimes undergo malignant transformation to chondrosarcoma. This family of EXT genes has been extended by the identification of an EXT-like (EXTL) gene showing a high degree of homology with the EXT genes. We report here a second EXT-like gene (EXTL2) which is homologous to the EXT and EXTL genes. EXTL2 consists of 5 exons encoding an ubiquitously expressed protein of 330 amino acids. In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11-p12, whereas EXTL2P was mapped on chromosome 2q24-q31.

Amino Acid Sequence↗