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61.
Jan Hendrickx Paul Coucke Marie-Claude Hors-Cayla G. Peter A. Smit Yoon S. Shin Johann Deutsch Jan Smeitink Ruud Berger Philip Lee John Fernandes Patrick J. Willems 《Genomics》1994,21(3)
We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However, in contrast to patients with XLG, the patients described here have no reduced phosphorylase kinase activity in erythrocytes and leukocytes, and no enzyme deficiency could be found. Linkage analysis of four families with this X-linked type of liver glycogenosis assigned the disease gene to Xp22. Lod scores obtained with the markers DXS987, DXS207, and DXS999 were 3.97, 2.71, and 2.40, respectively, all at 0% recombination. Multipoint linkage analysis localized the disease gene between DXS143 and DXS989 with a maximum lod score of 4.70 at θ = 0, relative to DXS987. As both the classical XLG gene and the liver α-subunit of PHK (PHKA2) are also located in Xp22, this variant type of XLG may be allelic to classical XLG, and both diseases may be caused by mutations in PHKA2. Therefore, we propose to classify XLG as XLG type I (the classical type of XLG) and XLG type II (the variant type of XLG). 相似文献
62.
Rui L. Mendes Helena L. Fernandes José A.P Coelho Joaquim M.S Cabral António M. F. Palavra Júlio M. Novais 《Journal of applied phycology》1994,6(3):289-293
Samples of the microalgaBotryococcus braunii were submitted to supercritical fluid extraction with carbon dioxide at 40 °C and pressures of 12.5, 20.0 and 30.0 MPa. The extraction yield and the fraction of the hydrocarbons in the extracts both increased with pressure and at 30 MPa these compounds were obtained rapidly. This behaviour is associated with the localization of the hydrocarbons outside the cell wall. In the extracts, which are fluid, golden and limpid, chlorophyll and phospholipids were not detected.Author for correspondence 相似文献
63.
Hydraulic properties of sphagnum peat moss and tuff (scoria) and their potential effects on water availability 总被引:2,自引:0,他引:2
The importance of macrostructure to root growth of ryegrass (L. perenne) seedlings sown on the soil surface was studied in two soils in which the macrostructure had resulted mainly from root growth
and macro-faunal activity. Sets of paired soil cores were used, one of each pair undisturbed and the other ground and repacked
to the field bulk density.
Undisturbed and repacked soils were first compared at equal water potentials in the range −1.9 to −300 kPa. At equal water
potential, the undisturbed soil always had the greater strength (penetration resistance), and root growth was always greater
in the repacked soil with no macrostructure than it was in the soil with macrostructure intact. At equal high strength (low
water potentials) it appeared that root growth was better when soils were structured. When strength was low (high water potentials),
root growth was better in the unstructured soil.
Soils were then compared during drying cycles over 21 days. The average rate at which roots grew to a depth of 60 mm, and
also the final percentage of plants with a root reaching 60 mm depth, was greatest in repacked soils without macrostructure.
The species of vegetation growing in the soil before the experiment affected root growth in undisturbed soil; growth was slower
where annual grasses and white clover had grown compared with soil which had supported a perennial grass.
It appears that relatively few roots locate and grow in the macrostructure. Other roots grow in the matrix, if it is soft
enough to be deformed by roots. Roots in the matrix of a structured soil grow more slowly than roots in structureless soil
of equal bulk density and water potential. The development of macrostructure in an otherwise structureless soil, of the type
studied, is of no advantage to most roots. However, once a macrostructure has developed, the few roots locating suitable macropores
are able to grow at low water potential when soil strength is high. The importance of macrostructure to establishing seedlings
in the field lies in rapid penetration of at least a few roots to a depth that escapes surface drying during seasonal drought.
ei]{gnB E}{fnClothier} 相似文献
64.
A. M. Coimbra K. G. Ferreira P. Fernandes H. G. Ferreira 《Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology》1993,163(3):196-202
Electrical potential differences between the haemolymph and the extrapallial fluid, and between the haemolymph and the mantle cavity fluid, and ionic concentrations of calcium in the haemolymph and in extrapallial fluid were measured in vivo in Anodonta cygnea. The electrochemical potential of ionic calcium in the haemolymph is clearly above the electrochemical potential of ionic calcium in the environment and is very nearly in equilibrium with that of the extrapallial fluid. Simultaneous measurements of carbon dioxide partial pressure and pH in the extrapallial fluid showed that in this compartment ionic calcium is clearly above saturation. It is proposed that calcium deposition is regulated through the secretion of the organic matrix and by controlling the pH and the carbon dioxide partial pressure of the extrapallial fluid. An estimation of the minimum positive balance of calcium required to sustain shell growth together with the electrophysiological characterization of the mantle cavity epithelium showed that this tissue is not the route of entry of calcium into the animal.Abbreviations BW
body weight
- DW
dry weight
- EEPF-S
chemical potential difference
- EPF
extrapallial fluid
- Gtot
total conductance
- Isc
short-circuit current
- Ksp
solubility product
- MCE
mantle cavity epithelium
- MCF
mantle cavity fluid
- OME
outer mantle epithelium
- PCO2
partial pressure of carbon dioxide
- PVC
Poly(vinyl chloride)
- S
shell
- SEM
standard error of mean
-
V
ic
intracellular electrical potential
-
V
oc
open-circuit voltage 相似文献
65.
Candida tropicalis DSM 7524 was used to produce xylitol from d-xylose. The fermentation conditions were optimized during continuous cultivation. The strain employed showed no great dependence upon temperature in a range between 30° C and 37° C. It achieved its best yield of xylitol from d-xylose at a pH value of 2.5. Such low pH values allow non sterile cultivation, which is a major economic factor. With an oxygen uptake rate of 0.8–1 ml oxygen per litre culture medium, the C. tropicalis produce xylitol at a yield of between 77% and 80% of the theoretical value. Higher yeast extract concentrations prevent the conversion of d-xylose into xylitol. d-xylose acts as a growth inhibitor in higher concentrations. The maximum xylitol yield was reached at a d-xylose concentration of around 100 g/l. In a non sterile batch culture with substrate shift 220 g/l xylitol were produced from 300 g/l d-xylose at a xylitol productivity rate of 0.37 g/(lh). In order to increase the specific yield, C. tropicalis was immobilised on porous glass and cultivated in a fluidized bed reactor. In a continuous non sterile cultivation with immobilised cells 155 g/l d-xylose produced 90–95% g/l xylitol with a productivity of 1.35 g/(lh).Mr. S. S. da Silva was a visiting scientist to the GBF. He was supported by a scholarship from the National Council of Scientific and Technological Development, Brasilia, Brazil (CNPq).We also would like to gratefully acknowledge the support of Prof. Dr. Michele Vitolo of the University of Sao Paulo, and the Centre for Biotechnology and Chemistry, Lorena, S. P. Brazil, in particular the Department of Fermentative Process.We are grateful to Prof. Rainer Jonas, head of the International Cooperation between Germany/Brazil for the helpful discussions and Dr. Heinrich Lönsdorf (GBF) for the Scanning electron micrographs.Dedicated to the 65th birthday of Prof. Dr. Fritz Wagner. 相似文献
66.
Fernando A. de Freitas José Andrés Yunes Marcio J. da Silva Paulo Arruda Adilson Leite 《Molecular genetics and genomics : MGG》1994,245(2):177-186
A genomic clone encoding the γ-kafirin gene from sorghum was isolated and sequenced. A 2938 bp sequenced fragment includes an intronless open reading frame of 636 nucleotides encoding a putative polypeptide of 212 amino acids. Comparison of the deduced amino acid sequence of γ-kafirin with the published sequences of γ-prolamins of maize, and Coix revealed highly conserved domains. The N-terminal region of these proteins contains the conserved hexapeptide PPPVHL, which is repeated eight times in γ-zein, four times in γ-kafirin and three times in γ-coixin. The number of PPPVHL repeats accounts predominantly for the differences in the molecular weights of γ-prolamins. Several putative regulatory sequences common to the γ-kafirin and γ-zein genes were identified in both the 5′ and the 3′ flanking regions. Putative GCN4-like regulatory sequences were found at positions ?192 and ?476 in the 5′ flanking region of γ-kafirin. In the 3′ noncoding region, three putative polyadenylation signals, two AATAAT and one AATGAA, were found at positions + 658, + 716, and + 785, respectively. In order to investigate the role of the putative GCN4-like motifs and other possible cis-acting element(s) of the γ-kafirin promoter, a series of deleted and chimeric promoter constructs were introduced into maize, Coix and sorghum tissues by particle bombardment. Histochemical analysis of β-glucuronidase (GUS) activity in different tissues indicated that the element(s) responsible for tissue specificity is probably located in the 285-bp proximal region of the promoter, while the remaining promoter sequence seems to carry the element(s) responsible for the quantitative response. 相似文献
67.
H. tageae sp. n. and Halicyclops ytororoma sp. n. are described from the intertidal interstitial water of Brazilian beaches.
H. tageae is distinguished from all congeneric species by the number of setae on legs 1–4 endopodite 2 (1, 1, 2, 2) and by possessing a reduced inner spine on the leg 5 exopodite. It shares with H. brevispinosus, H. pusillus and H. canui the spine formula 2, 3, 3, 3 on exopodite 3 of swimming legs 1–4.
H. ytororoma closely resembles H. gauldi and differs from this species by having 4 setae on leg 1 endopodite 3; H. gauldi has 3 setae on this segment.This is the first record of Halicyclops from marine interstitial water in Brazil. 相似文献
68.
Amanda dos Santos Marina Tenório Botelho Willian Reina Joviano Vicente Gomes José Roberto Machado Cunha da Silva Gisela de Aragão Umbuzeiro 《Invertebrate Biology》2023,142(1):e12394
Hemocytes are circulating blood cells that play a crucial function in amphipods and other crustacean immune systems. The hemocytes of the marine tropical amphipod Parhyale hawaiensis have been used for the evaluation of DNA damage and micronuclei, but they have not been characterized in the scientific literature. The aim of this study was to describe the hemolymph cells of P. hawaiensis and study their phagocytotic activity. Basic dyes were used to differentiate the cell types and the presence of lipids. The total hemocyte counts (THCs) and the proportion and sizes of the hemocyte types were determined. Hemolymph was exposed to Escherichia coli for verification of the presence of phagocytosis. Three cell types, all containing lipids, were identified in P. hawaiensis: granulocytes (oval shape, 13.4 × 7.6 μm), semi-granulocytes (oval shape, 14.1 × 7.2 μm), and hyalinocytes (round shape, 9.6 × 7.2 μm). Those three cell types were found in different percentages in males (64.8%, 31.1%, and 4.2%) and females (70.1%, 28.2%, and 1.7%). THCs for males were 9007 ± 3800 cells per individual and 4695 ± 1892 cells per individual for females. The cells of E. coli were phagocytized by the hemocytes. Our findings increased the knowledge of hemocytes in P. hawaiensis and is a step forward in using hemocyte-based immune responses as an endpoint in ecotoxicology. 相似文献
69.
70.