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Biomedical subjects

E Engel

Publications and source records attributed to E Engel.

At least 163 records · Page 9Linked to original sources
PubMed1978

HLA frequencies, diabetes mellitus and autoimmunity in Turner's patients and their relatives.

In a preliminary study of twenty-three patients with gonadal dysgenesis (Turner's syndrome) and their families, correlation was sought between their serum defined HLA allele frequencies and their known tendencies toward abnormal immune responses and diabetes mellitus, since individuals with the latter disorders have been shown to have an increased frequency of certain HLA types. We were unable to demonstrate an association between these major serum-defined histocompatibility antigens, immune homeostasis disturbances and sex chromosome aneuploidy in this group. It is felt, however, that testing involving the patterns of HLA-D and "HLA-D related" antigen frequencies should be obtained to further evaluate the possibility of such an association.

Alleles↗
PubMed1977

Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15.

Concordant segregation of the expression of the alpha subunit of human hexosaminidase A, human mannosephosphate isomerase, and pyruvate kinase was observed in somatic cell hybrids between either thymidine kinase-deficient mouse cells or thymidine kinase-deficient Chinese hamster cells and human white blood cells carrying a translocation of the distal half (q 22-qter) of the long arm of chromosome 15 to chromosome 17. A positive correlation was established between the expression of these human phenotypes and the presence of the distal half of the long arm of human chromosome 15.

Carbohydrate Epimerases↗
PubMed1977

The chromosome 2 distal short arm trisomy syndrome.

A trisomy for the distal short arm of chromosome 2 (2p23 leads to 2pter) resulted in similar phenotypic and developmental abnormalities in three related males. The cytogenetic defect was traced to a familial balanced 2;3 translocation [t(2;3) (p23;27)]. Comparison of these patients with the seven previously published cases of 2p partial trisomy reveals a pattern of common features including severe mental and growth retardation, a characteristics facial dysmorphism particularly affecting the eyes, abnormalities of the sternum, spine, and digits, a heart defect, and, in males, cryptorchidism and a striking genital anomaly consisting of a very small penis buried in dorsally fused scrotal skin.

Adult↗
PubMed1977

Assignment of the gene for glyoxalase I to region p21 leads to pter of human chromosome 6.

Using somatic cell hybrids between TK-deficient mouse cells and white blood cells derived from a patient with a translocation of the region p21 leads to pter of chromosome 17, we have assigned the gene for human GLO, to region p21 leads to pter of chromosome 6. Since the HLA region is only 10 cM distant from GLO, these results also confirm that the HLA region is located on the short arm of human chromosome 6.

Animals↗
PubMed1977

Karyotypic analyses of parental and hybrid intraspecific mouse cells, A9/B82, by giemsa- and centromeric-banding.

Hybrids between A9 (HGPRT-) and B82 (TK-), mouse heteroploid fibroblast lines, were obtained through continuous cultivation and clonal selection; such hybrids showed marked segregation and by conventional stains displayed chromosome numbers and distribution similar to that of either parental type. Detailed analyses by Giemsa (G)- and centromeric-banding of these parental lines, and of 4 of the reduced hybrids, maintained in culture for up to 5 years, revealed the following points: (1) The distribution of the majority of individual chromosomal classes was similar for 3 of the hybrid cell lines. (2) Over two-thirds of the chromosomal arms in both the parental lines and hybrid lines were identical to normal mouse telocentric chromosomes. (3) For 2 of the hybrid lines, segregation was particularly marked with respect to those chromosomal arms whose G-banding patterns were identical to the wild-type genome; this indicated that segregation had occurred at the expense of redundant chromosomal material introduced by cell fusion. These banded studies demonstrated that segregation chiefly accounted for the sharp reduction in chromosome numbers while recombination accounted for the chromosome heterogeneity of the hybrid cells as compared to the parental genomes.

Animals↗
PubMed1977

[Value of ophthalmodynamography and ophthalmodynamometry in acute cerebrovascular processes].

Methods of examination are briefly described and findings are then reported for cerebral vascular processes. The results have been assessed in comparison with the angiographic picture. The authors conclude that both ophthalmodynamography and ophthalmodynamometry can be used to record haemodynamic changes resulting from stenosing vascular processes in the extra-cranial cerebral vascular area. The two methods are non-operative and involve little stress on the patient during examination so that they may be used for preliminary diagnostic purposes.

Acute Disease↗
PubMed1977

Trigonocephaly and the 11q- syndrome.

A seventh case of deletion of the distal long arm of a chromosome 11 is described. As in other cases with this karyotypic abnormality, trigonocephaly is the most noticeable phenotypic peculiarity. A review of common developmental and dysmorphic features among the seven recognized cases is presented.

Chromosome Aberrations↗
PubMed1977

One hundred years of cytogenetic studies in health and disease.

Cytologic observations have greatly contributed to our understanding of the modes of transmission, expression, and action of genetic determinants in tissues and organisms. While the elucidation of chromosome migration and distribution during gametogenesis (i.e., the segregation and independent assortment of chromosomes in the germ cells) provided a physical basis and a mechanism for the implementation of Mendelian principles, cytogenetics did not illuminate our practical knowledge of human biology until it was applied to eukaryotic somatic cells with ease, speed, and accuracy. As a result of these achievements of the late 1950s, the study of the chromosome complement is now routinely available. Karyotypic analysis established that genetic imbalances such as trisomies and deletions account for one-fifth or more of all spontaneous abortions and for one-fifth of all serious but viable birth defects, most of them with impaired mental development. Most chromosome errors are the result of a gametal or zygotic mishap and can be detected by fetal cell sampling through amniocentesis. In recent years more refined techniques (chromosome banding methods) have further increased the level of resolution at which anomalies can be detected. These techniques, along with the development of methods to hybridize somatic cells, have greatly assisted in the assignment of particular genes to particular chromosomes.

Amniocentesis↗
PubMed1976

Transformation of mouse cells by fusion with chronic granulocytic leukemia cells: possible role of human chromosome.

In vitro properties of somatic cell hybrids between non-malignant B82 mouse fibroblasts and human chronic granulocytic leukemia spleen cells include lack of cell density-dependent growth inhibition and growth in soft agar. These phenotypic expressions of cell transformation appear linked to the retention by the cells of chromosome 7 from the human leukemic genome.

Animals↗
PubMed1976

Chromosome 11 long arm partial deletion: a new syndrome.

Deletion of the distal end of the long arm of a chromosome 11 (11q-) was demonstrated by G-bands in a malformed 4.3-year-old girl. Comparison of her phenotype with those of the four previously reported cases of 11q-, three with a proven and one a presumed similar deletion, suggests that this defect results in a clinical picture most noticeable for the association of variable mental retardation, marked speech deficit, trigonocephaly, and pronounced growth failure.

Abnormalities, Multiple↗