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1.
Am J Obstet Gynecol ; 179(3 Pt 1): 597-603, 1998 Sep.
Article in English | MEDLINE | ID: mdl-9757958

ABSTRACT

OBJECTIVE: Several lines of evidence suggest that expression of the WT1 transcription factor gene is necessary for normal development of the renal and male reproductive systems. Female patients with severe reproductive tract developmental defects were examined for WT1 gene mutations. STUDY DESIGN: The WT1 gene was analyzed in 25 patients with congenital absence of the uterus and vagina for mutations. Genomic deoxyribonucleic acid prepared from blood leukocytes was subjected to Southern blot analysis and denaturing gradient gel electrophoresis. RESULTS: Common WT1 gene deoxyribonucleic acid sequence polymorphisms were found in both normal control subjects and patients with congenital absence of the uterus and vagina. No deoxyribonucleic sequence differences or mutations likely to cause congenital absence of the uterus and vagina were detected in the patients. CONCLUSIONS: The absence of WT1 gene mutations in patients with congenital absence of the uterus and vagina supports the hypothesis that WT1 expression is required only for later urogenital development, after the mesonephric and paramesonephric ducts have already formed.


Subject(s)
DNA-Binding Proteins/genetics , Genes, Wilms Tumor/physiology , Mullerian Ducts/growth & development , Transcription Factors/genetics , Uterus/abnormalities , Vagina/abnormalities , Base Sequence , DNA/genetics , Electrophoresis , Female , Humans , Molecular Sequence Data , Polymorphism, Restriction Fragment Length , WT1 Proteins
4.
Genes Dev ; 7(7B): 1309-17, 1993 Jul.
Article in English | MEDLINE | ID: mdl-8330736

ABSTRACT

The AP-1 transcription factors are considered immediate-early response genes and are thought to be involved in a wide range of transcriptional regulatory processes linked to cellular proliferation and differentiation. To study one of the key members of this family, the proto-oncogene c-jun, we have used homologous recombination-mediated gene targeting to produce mice with a c-jun null mutation. c-jun null embryos die at mid-gestation, with an average time of death of 12.5 days postcoitus. Homozygous mutant embryos are indistinguishable from wild-type littermates both grossly and histologically until the time of death. However, primary fibroblasts derived from live heterozygous and homozygous mutant embryos show greatly reduced growth rates in culture. The subnormal mitogenic response of these cells cannot be overcome by the addition of a number of purified mitogens. These studies indicate that although c-jun is not required for cellular proliferation and differentiation up to mid-gestation, it is required for survival past that stage as well as for the mitogenic response of embryonic fibroblasts in culture.


Subject(s)
Fetal Death/genetics , Genes, Lethal , Genes, jun , Mutation , Animals , Base Sequence , Cell Division/genetics , Cloning, Molecular , DNA , Female , Heterozygote , Homozygote , Male , Mice , Mice, Inbred C57BL , Molecular Sequence Data , Polymerase Chain Reaction , Proto-Oncogene Proteins c-jun/genetics , RNA, Messenger/genetics , Tumor Cells, Cultured
6.
Gerontologie ; 11(2): 147-55, 1980 May.
Article in Dutch | MEDLINE | ID: mdl-7399349

ABSTRACT

During a term of probation for the doctoral course in sociology at the university of Nijmegen a research was made for the relatinship between patients and staff on the ward of a nursing home. This relation was investigated with the use of Elias and Scotson's model of an established and outsiders figuration. In this figuaration are several sources of power, as fysical capacities, knowledge, key-positions and cohesion, important. These are considered more thoroughly. Some of the central problems of a nursing home are becoming more clear in the elaboratin of processes as exclusion and stigmatization. The questions efficiency or humanity and the normality or abnormality of the behaviour of the patients are considered against the background of the contrast between living environment for the patients and work environment for the staff. One of the conclusions is that because of the central place of medical and nursing-technical thinking there isn't much room left for the living of the patients, in spite of the fact this being an explicit care of the investigated home.


Subject(s)
Aged/psychology , Group Processes , Nursing Homes , Professional-Patient Relations , Female , Humans , Male , Models, Psychological , Netherlands , Nursing Staff/psychology , Social Environment , Social Isolation
7.
S Afr Med J ; 57(15): 585-8, 1980 Apr 12.
Article in English | MEDLINE | ID: mdl-6445085

ABSTRACT

The deviation of the electrocardiographic deflections from normal standards and a grading of the ST segments were obtained from the ECGs of subjects who were subsequently examined by cardiac partitioning at autopsy. A stepwise, multiple, linear regression analysis was calculated, where the ventricular weights were the determinate variables, and the electrocardiographic deviation from normal standards, the grading of the ST segments, age and weight were the indeterminate variables. The results for the entire series of cases and subgroups were statistically significant at P less than 0,001. The wide spectrum of left and right ventricular weights required the establishment os subgroups, in which the variation in ventricular weight explained by the indeterminate variables was of a high order. The results were similar to estimations based on the actual electrocardiographic measurements rather than on their deviation from normal standards.


Subject(s)
Cardiomegaly/pathology , Electrocardiography , Humans , Organ Size , Regression Analysis
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