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11.
Monique Berthelon Catherine Caillaud Françoise Rey Philippe Labrune Dominique Melle Josué Feingold Jean Frézal Marie-Louise Briard Jean-Pierre Farriaux Pierre Guibaud Hubert Journel Bernard Le Marec Nicole Maurin Jean-Louis Nivelon Henri Plauchu Jean-Marie Saudubray Philippe Tron Jean Rey Arnold Münnich Stanislas Lyonnet 《Human genetics》1991,86(4):355-358
Summary A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or from Mediterranean countries (136 alleles). Only 27% of all mutant alleles were found to carry identified mutations, particularly mutations at codon 252 (2.3%), 261 (7.5%), 280 (6.3%), 408 (3.5%) and at the splice donor site of intron 12 (6.3%). The mutant genotypes were associated with RFLP haplotypes 7, 1, 38, 2 and 3 at the PAH locus respectively. Except for the splice mutation of intron 12, these associations were preferential, but not exclusive, since the other four mutations were found on the background of at least two RFLP haplotypes. These results, together with the observation that 85% of PAH deficient patients are heterozygotes for their mutant genotypes, emphasize the great heterogeneity of PAH deficiencies in Mediterranean countries and hamper systematic DNA testing for carrier status in this population. 相似文献
12.
Summary The differentiation capacity of the rat epididymis after depletion of androgen was studied in organ culture and in castrated rats. The differentiation of narrow cells in 5- and 10-day-old explants and in 10-day-old castrated rats suggests that: (i) the testicular androgens are not essential for their differentiation, (ii) a differential androgen dependence exists among the epididymal cell types, (iii) the undifferentiated epithelial cells are the precursors of the narrow cells. 相似文献
13.
Summary We have used response surface methodology to study the interactions between various parameters (pH, temperature, enzyme concentration) controlling the immobilization of ribonuclease A on to glutaraldehyde activated-amine Spherosil beads. The optimum activity of immobilized ribonuclease A was observed at pH=9.1. The specific activity of the immobilized enzyme was affected by the pH and by the enzyme concentration. 相似文献
14.
Summary Glycoproteins rich in mannosyl or glucosyl residues were analyzed in the subcommissural organ (SCO) and the pineal organ of the sheep (Ovis aries). By use of concanavalin A labelled with fluorescein isothiocyanate, fluorescent material was found both in ependymal and hypendymal cells of the SCO. In the pineal organ, either isolated or grouped parenchymal cells showed a marked fluorescence. These cells may correspond to ependymal elements also called interstitial cells or supporting cells. In addition, scarce slender, fluorescent processes were observed in the pineal parenchyma. The techniques of electrophoresis and electrotransfer on nitrocellulose paper have been applied to analyze the glycopeptide content of the SCO and the pineal organ in comparison to cerebellar and cerebral fractions solubilized by use of Triton X 100. Approximately 30 different concanavalin A-reactive glycopeptides were revealed in each fraction. In the SCO extract four glycopeptides (30, 54, 72, 100 kd) might correspond to subunits of the glycoprotein(s) characteristically stored in the ependymal cells of the SCO. In addition, two glycopeptides (32/33, 115 kd) are specific to the pineal organ extract. The possible similarity of the concanavalin A-reactive material in both organs is discussed and a putative secretory activity of the pineal ependymal cells is postulated. 相似文献
15.
A cDNA clone containing the entire coding sequence of a mouse H-2Kd histocompatibility antigen 总被引:14,自引:4,他引:10 下载免费PDF全文
Jean-Louis Lalanne Christiane Delarbre Gabriel Gachelin Philippe Kourilsky 《Nucleic acids research》1983,11(5):1567-1577
We have isolated a cDNA clone carrying a 1560 bp long insert which contains the entire coding and 3' untranslated regions of an H-2K(d) mouse histocompatibility antigen. Its sequence and overal features are described. They point to the existence of unique properties of DNA sequences associated with the H-2K(d) antigen. 相似文献
16.
From a survey of the literature on follicular lymphoma it appears that the lesion of Brill-Symmers disease may be considered to be a form of neoplasm. The authors have reviewed a series of 18 cases seen at the Hôtel-Dieu of Québec between 1950 and 1960 and have adopted Rappaport''s classification published in 1956, but leaving out the “Hodgkin” Type 5 which they propose to examine more fully in another paper.There appears to be a degree of positive correlation between the histologic type and the course of the disease, the well differentiated cell Type 1 being associated with a protracted course. This neoplasm should not be mistaken for benign follicular hyperplasia. 相似文献
17.
Christa Grossniklaus-Buergin Jean-Louis Connat Beatrice Lanzrein 《Archives of insect biochemistry and physiology》1989,11(2):79-92
In unparasitized 4th and 5th-instar larvae of Trichoplusia ni and in 4th-instar larvae parasitized by Chelonus sp. 20-hydroxyecdysone, 20,26-dihydroxyec-dysone, and 20-hydroxyecdysonoic acid were the predominant metabolites formed 2 h after injection of [3H]ecdysone. Other unidentified metabolites were seen, but none seemed to be specific for either parasitized or unparasitized larvae. The major difference between parasitized and unparasitized larvae was seen with respect to the quantity of apolar (unidentified) and polar metabolites (20-hydroxyecdysonoic acid and unidentified ones), which were produced to a greater extent in parasitized larvae. Ecdysone was rapidly converted into 20-hydroxyecdysone and the other polar metabolites in all stages investigated, and the parasitoid seemed not to affect the conversion of ecdysone into 20-hydroxyecdysone. When analyzing the fate of [3H]ecdysone in host and parasite separately, at a stage when the parasite drinks hemolymph of its host, we observed that 10–20% of the radioactivity was recovered from the parasitoid. Analysis of the parasitoid's ecdysteroids revealed that ecdysone and 20-hydroxyecdysone represented only a small proportion of the recovered labeled ecdysteroids, the majority being apolar and polar metabolites. Our data suggest that the parasitoid takes up ecdysteroids from its host, converts them, and to some extent releases apolar metabolites into the host. 相似文献
18.
Jean-Louis Connat Ellen Marie Dotson Peter Allan Diehl 《Archives of insect biochemistry and physiology》1989,10(3):I-XV
Fifth (last) instar nymphs of th e tick Ornithodoros moubata convert ingested 20-hydroxyecdysone (20E) to apolar conjugates AP2, which are then converted to th e more polar conjugates API. Only small quantities of free hormone were transferred to th e hemolymph and the carcass within t h e first 2 days after the blood meal. The proportion of radiolabel in these two compartments was highest at the time of the endogenous ecdysteroid peak; however, no traces of free [3H]20E were detected. The conversion probably occurs principally in the intestinal cells. Eleven days after ingestion, 84% of the radiolabel is located in the digestive tract, mainly in the form of API conjugates. API obtained in second instar nymphs fed with [3H]ecdysone ([3H]E) remain stable throughout the following nymphal instars. The ecdysteroid moiety of APT remained unchanged. The hydrolysis, although not complete, always yielded a peak comigrating with the reference E but never 20E or any other clearly distinct peaks that may have corresponded to metabolites of 20E. Less label per individual was present in adults, but its nature remained the same, viz., API mainly located in the digestive tract. In females, 2.5% of the label was transferred to the progeny during the first ovipositional cycle. Apolar products (mainly AP2) that accumulated in eggs of females injected with [3H]E or [3H]20E during vitellogenesis remained unchanged during the whole embryonic development. During the molting cycle of larvae, there was only a slight conversion of AP2 to API, but esterase hydrolysis of these products released the same percentages of E and 20E as in the freshly laid eggs. We conclude that in this tick species apolar conjugates of ecdysteroids are inactivation metabolites that are not reutilized during the development of the animal. These metabolites are mainly retained in the tick, probably because of its peculiar blocked midgut. Several studies have shown that in other arthropod species (ticks, spiders, and insects), these apolar metabolites are excreted in the feces. 相似文献
19.
Régine Talon Marie-Christine Montel Jean-Louis Berdague 《Enzyme and microbial technology》1996,19(8):620-622
The present paper describes the potential of Staphylococcus warneri and Staphylococcus xylosus lipases in the production of a variety of flavor esters. Both immobilized lipases produced ethyl esters from hexanoic to oleic acids with an optimum at decanoic acid. They esterified aliphatic and branched chain primary alcohols from ethanol to hexanol. Under our standard conditions, acetic, butyric, 2-methyl butyric, 3-methyl butyric, and valeric acids underwent slight esterification. 相似文献
20.
Summary The apical cell ofSphacelaria, a tip-growing filamentous brown alga, and its protoplast constitute a model for the investigation of the consequences of cell wall removal on microtubular cytoskeletal organization and cell polarity. In the apical cell, the microtubular cytoskeleton is strongly polarized and, in most cases, extends from two centrosomes to the cortex where it constitutes a fine meshwork. Observations of microtubule dynamics throughout the cell cycle emphasize the coincidence between orientation of the mitotic axis and cell polarity. Just after protoplast isolation, dramatic alterations of initial polarity are observed, whatever the mitotic stage. In particular, the coincidence between cytoplasmic polarity and polarity of the system nucleus-centrosomes is lost in most cases. 12–24 h after protoplast isolation, the cell shows a more symmetrical organization while a dense cortical microtubular network spreads out concomitantly with wall reformation. Our discussion emphasizes the possible relationship between cell polarity and cell totipotency, and the relevance of such a model for higher plant studies. 相似文献