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61.
Summary Four siblings with the autosomal recessive Roberts syndrome are reported, and we discuss the phenotypic overlap of this syndrome with other similar radial, aplasia syndromes. 相似文献
62.
Dulce E. Oliveira Ana Lúcia C. Santos Neto Anita D. Panek 《Analytical biochemistry》1981,113(1):188-192
A quantitative in situ assay of yeast α-glucosidase involving permeabilization of the cells by freezing and thawing is described. The assay was applied to different strains in different physiological states and was shown to give results comparable to those obtained with total cell homogenates. The primary advantage of the in situ assay was the possibility of analyzing a large number of samples from the same culture during a growth curve using a very reduced cell mass. 相似文献
63.
Summary Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed. 相似文献
64.
Tethered walking imagines of the mealworm beetle Tenebrio molitor wave their heads in random fashion. If a periodic pattern of vertical black and white stripes is rotated around the animal a regular nystagmic head movement is superimposed upon the random waving, the frequency of the latter equals the contrast frequency within large ranges of the angular velocity of the pattern. The nystagmus is inverted: After a short period of tracking, during which the angular velocity of the head is the same as that of the panorama, the head returns slowly toward its normal position according to an exponential-like function. Resting animals do not wave their heads. However, if the above panorama is rotated, the beetle turns its head in the direction of the movement of the panorama and holds it in a side-way position, as long as the rotation is maintained. The angular position reached depends in the same manner on the angular velocity of the panorama as the turning tendency of walking animals established in open loop experiments using the spherical Y-maze method. 相似文献
65.
66.
Ammonia overloading was investigated during glucose and fructose metabolism in isolated hepatocytes under a variety of metabolic conditions. In all assay conditions, the glycolytic flux and oxygen uptake was not modified by 10 mM ammonia. In hepatocytes isolated from rats fed as libitum, the presence of ammonia caused a decrease in the production of lactate (pyruvate); this effect was not observed in anaerobic incubations, in hepatocytes isolated from starved animals, or in fetal hepatocytes. In spite of an overproduction of urea, ammonia detoxification also takes place by the synthesis of alanine, glutamate and aspartate. Addition of 1 mM aminooxyacetate, an inhibitor of aminotransferases, to the incubation medium prevents the formation of these amino acids, and also prevents the decrease of lactate in hepatocytes isolated from fed animals. 相似文献
67.
A controlled cross betweenCannabis sativa L. andC. ruderalis Janisch. gave progeny intermediate in both cannabinoid content and morphology. The progeny fell into two distinct populations, those whose tetrahydrocannabinol (THC) content was closer to theC. sativa parent (greater than 60% of total cannabinoids) and those whose THC content was closer to theC. ruderalis parent (less than 40% of total cannabinoids). The lower THC group was twice as frequent as the other group. Earliness of flowering, number of flowers, and height characteristics were intermediate between the parents. 相似文献
68.
69.
S Armendares F Salamanca J M Cantú V Del Castillo S Nava E Dominguez-de-la-Piedra V Cortés-Gallegos A Gallegos C Cervantes A Parra 《Humangenetik》1975,29(2):99-109
Three affected siblings with the hermaphrodism are described. The propositi showed the following characteristics: male phenotype and gender role, hypospadias, bilateral scrotal ovotestes with palpable nodules, and absence of müllerian structures. The X chromatin was positive and the Y chromatin was negative in the 3 affected subjects. Their karyotype in peripheral blood lymphocytes and in gonadal fibroblasts was 46,XX and no Y chromosome fluorescence was observed. Plasma FSH was elevated in the 2 older patients and plasma LH was elevated only in the oldest. Plasma testosterone was low and plasma estradiol high in the 3 siblings; plasma progesterone was elevated in 2, but normal in 1 sibling. Since some of the clinical characteristics of these 3 affected siblings are not the most common features in the majority of sporadic cases of true hermaphrodism, it is suggested that the presence of all of them may be the first clue for the clinical suspicion of the familial type of true hermaphrodism. 相似文献
70.
Since the regulation of the vascular permeability in the CNS is dependent partly on the enzymes associated with the wall of brain capillaries, the histochemical demonstration of these enzymes may furnish further data on the function of the blood brain barrier (BBB), a new methodological approach, using brain smears was developed for the histochemical demonstration of several enzymes participating in the function of the BBB. The method presented renders possible also the subsequent demonstration of monoamines and the activity of different enzymes in the same tissue preparation. The usefulness of this simple technique in the study of brain capillary functions is discussed. 相似文献