PubMed Health⌕ Search

Biomedical subjects

C R Müller

Publications and source records attributed to C R Müller.

99 records · Page 6Linked to original sources
PubMed1979

Linkage studies on the human Pi, Gm, GLO, and HLA genes.

Linkage data of the four gene markers Pi, Gm, GLO, and HLA exclude Gm and Pi gene assignment to the short arm of chromosome 6. The findings, however, do not disprove the following gene order: HLA--GLO--centromere--Gm--Pi.

Adult↗
PubMed1977

beta-D-Galactoside transport in Escherichia coli. Reversible inhibition by Aprotic Solvents and its Reconstitution in transport-negative membrane vesicles.

At relatively low concentrations (less than 3M) the aprotic solvents: dimethylsulfoxide, N-methylpyrrolidone, tetramethylurea and hexamethylphosphoric triamide, inhibited beta-D-galactoside transport by whole cells, and the derived membrane vesicles of Escherichia coli. Inhibition was not due to gross leakiness of the membrane and could be largely reversed by a simple washing procedure...

Binding, Competitive↗
PubMedDate not supplied

[Indirect molecular-genetic family study and prenatal diagnosis of infantile spinal muscular atrophy].

Spinal muscular atrophy is one of the most common severe inherited diseases in childhood and especially the acute form of type I (Werdnig-Hoffmann) results in early death. Recently, all three types of childhood-onset SMA have been mapped to chromosome 5. Since then heterozygote detection in siblings and prenatal diagnosis of SMA type I is possible by indirect genetic analysis. As the gene and the mutation responsible for the disease have not yet been cloned, DNA analysis results in a risk figure which depends on the informativity and recombination frequency of the flanking markers studied.

Chorionic Villi Sampling↗
PubMedDate not supplied

Mapping undetected mutations within a gene-evidence for two preferential regions in the DMD gene.

A maximum-likelihood method is developed to estimate the frequency distribution of undetected mutations (presumably point mutations, small deletions, insertions) along a gene, where the gene extends over a long stretch of DNA. In each family, the point of the mutation is potentially at a different location within the gene. In this sense, there is genetic heterogeneity among families and the method estimates the proportion of families whose mutation is at (or in the vicinity of) a given point inside the gene. Our method is applied to a sample of 75 families with Duchenne muscular dystrophy in which the disease mutation remained undetected. We find two preferential regions for these undetected mutations, with an estimated 85% of families having their mutation in one region and the remaining 15% of families in the other. The new method is expected to be useful in finding small mutations in any of the currently known large genes.

Chromosome Mapping↗
PubMedDate not supplied

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy.

A 52-year-old man had a cardiomyopathy for 22 years as had his brother. Both required pacemakers. For the past 12 years, he also suffered from increasing muscle weakness. His muscle fibres contained granulo-filamentous material as previously seen in muscle fibres of a French family with myopathy and cardiomyopathy. It was rich in desmin, alpha-B crystallin, and dystrophin, the connotation, pathogenesis, and common denominator of which, however, remain unexplained.

Cardiomyopathy, Dilated↗