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61.
Xp-duplications with and without sex reversal 总被引:5,自引:0,他引:5
Annette Baumstark Gotthold Barbi Mahmoud Djalali Claudia Geerkens Beate Mitulla Torsten Mattfeldt José Carlos Cabral de Almeida Fernando Regla Vargas Juan Clinton Llerena Jr Walther Vogel Walter Just 《Human genetics》1996,97(1):79-86
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY, der(22), t(X;22)(p11.3;p11)mat and unambiguous female genitalia. The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. He had multiple abnormalities and micropenis, but otherwise unambiguous male genitalia. We performed quantitative Southern blot analysis with probes from Xp22.13 to p21.2 to define the duplicated region. Clinical, cytogenetic, and molecular data from both patients were compared with those of previously reported related cases. A comparison of the extragenital symptoms revealed no differences between patients with or without sex reversal. In both cases, the symptoms were non-specific. Among 22 patients with a duplication in Xp, nine had unambiguous female genitalia and a well-documented duplication of the DSS region. Two patients with duplication of DSS showed ambiguous external genitalia. From these data, we conclude that induction of testicular tissue may start in these patients, but that the type of genitalia depends on the degree of subsequent degeneration by a gene in DSS. 相似文献
62.
Márcia Camargo-De-Morais Marta De Freitas Angela G. De Mattos Nádia Schröder Ana C. Zilles Carla S. F. Lisboa Nice Arteni Armando Barlem Rejane Schierholt Guilherme Zwetsch Carlos A. B. Souza Regina Pessoa-Pureur Carlos A. Netto 《Neurochemical research》1996,21(5):595-602
Neurofilaments subunits (NF-H, NF-M, NF-L) and glial fibrillary acidic protein (GFAP) were investigated in the hippocampus
of rats after distinct periods of reperfusion (1 to 15 days) following 20 min of transient global forebrain ischemia in the
rat. In vitro [14Ca]leucine incorporation was not altered until 48 h after the ischemic insult, however concentration of intermediate filament
subunits significantly decreased in this period. Three days after the insult, leucine incorporation significantly increased
while the concentration NF-H, NF-M, and NF-L were still diminished after 15 days of reperfusion. In vitro incorporation of32P into NF-M and NF-L suffered immediately after ischemia, but returned to control values after two days of reperfusion. GFAP
levels decreased immediately after ischemia but quickly recovered and significantly peaked from 7 to 10 days after the insult.
These results suggest that transient ischemia followed by reperfusion causes proteolysis of intermediate filaments in the
hippocampus, and that proteolysis could be facilitated by diminished phosphorylation levels of NF-M and NF-L. 相似文献
63.
64.
Marisa C. Piccolo Christopher Neill Jerry M. Melillo Carlos C. Cerri Paul A. Steudler 《Plant and Soil》1996,182(2):249-258
The natural abundance of 15N was examined in soil profiles from forests and pastures of the Brazilian Amazon Basin to compare tropical forests on a variety of soil types and to investigate changes in the sources of nitrogen to soils following deforestation for cattle ranching. Six sites in the state of Rondônia, two sites in Pará and one in Amazonas were studied. All sites except one were chronosequences and contained native forest and one or more pastures ranging from 2 to 27 years old. Forest soil 15N values to a depth of 1 m ranged from 8 to 23 and were higher than values typically found in temperate forests. A general pattern of increasing 15N values with depth near the soil surface was broadly similar to patterns in other forests but a decrease in 15N values in many forest profiles between 20 and 40 cm suggests that illuviation of 15N-depleted nitrate may influence total soil 15N values in deeper soil where total N concentrations are low. In four chronosequences in Rondônia, the 15N values of surface soil from pastures were lower than in the original forest and 15N values were increasingly depleted in older pastures. Inputs of atmospheric N by dinitrogen fixation could be an important N source in these pastures. Other pastures in Amazonas and Pará and Rondônia showed no consistent change from forest values. The extent of fractionation that leads to 15N enrichment in soils was broadly similar over a wide range of soil textures and indicated that similar processes control N fractionation and loss under tropical forest over a broad geographic region. Forest 15N profiles were consistent with conceptual models that explain enrichment of soil 15N values by selective loss of 14N during nitrification and denitrification. 相似文献
65.
Marcello Franco Eduardo Bagagli Marino Cunha Luiz Gastão Chamma Denise Fecchio 《Mycopathologia》1996,135(1):13-19
We investigated the occurrence of antigenic and biochemical variability among Paracoccidioides brasiliensis antigen batches prepared according to the same protocol. Initially (experiment #1), we analyzed two antigen lots of two human isolates (Bt1 & Bt2), cultured in two media (PYG: bactopeptone, yeast extract, glucose; MMM: McVeigh & Morton medium) in SDS-PAGE and in two immunological tests (imunodiffusion-ID and footpad swelling test-FPT). Afterwards (experiment #2), we compared the antigenic profile of three antigen batches from three human isolates (Bt1, Bt2 & Bt3) by two-dimensional immunoelectrophoresis (2 D-IEP) against a reference system for P. brasiliensis antigens. In experiment #1, there were important intra- and inter-strain antigenic differences between batches of the fungal isolates cultured on both media. The block titration of the antigen batches for the immunological tests revealed correlation between protein concentration and biological activity in ID and no correlation in FPT. In experiment #2, the reference system for P. brasiliensis showed 26 antigen peaks. There were important differences between batches prepared from the same isolate and between batches from different isolates. Our data suggested the occurrence of instability in the synthesis of antigenic components by a same P. brasiliensis isolate, under controlled incubation conditions. 相似文献
66.
67.
We formulate and analyze pair-formation models for multiple groups with general pairing rates and arbitrary mixing probabilities. Under the assumption of constant recruitment rates and equal average duration of all types of partnerships, we have shown that the dynamics are relatively simple because of the monotonicity properties of the dynamical system associated with the pairing/mixing of heterogeneous populations of male and female individuals. In fact, we have shown that the corresponding asymptotic stable paired distribution is given precisely by the asymptotic values of the matrices that prescribe the mixing/contact structure. In other words, if the sizes of the mixing subpopulations of males and females are asymptotically constant and if the average durations of partnerships are about the same regardless of type, then the matrices that describe the mixing between subpopulations also characterize the distribution of paired types. Alternatively, if the distribution of the average duration of relationships between individuals has a large variance then it may be impossible to detect any relationship between the mixing/contact structure and the observed distribution of paired types. The study of models with constant per-capita recruitment rates give rise to homogeneous systems of degree one. The analysis of the dynamics of pairs for models with exponentially growing populations of singles is complicated. So far, we are only able to classify the stability of all non-strictly positive boundary exponential solutions. From our incomplete analysis, it is not possible to detect necessary and sufficient conditions for the existence and stability of strictly interior exponential solutions. We cannot rule out the possibility of oscillations. The mathematical problems associated with the stability of exponential solutions of dynamical systems of degree one are of relevance in demography, epidemiology, and population dynamics.On leave from University of Alabama in Huntsville 相似文献
68.
Ammonium concentrations were determined in near-bottom water and intertidal surface sediments collected in February and July 1993 at five stations of Ria Formosa, a shallow meso-tidal coastal lagoon in southern Portugal. At each station, samples were taken a few minutes before tidal inundation, and subsequently 2, 10, 15 and 20 minutes thereafter. Ammonium concentration in near-bottom waters increased dramatically in the first 2 minutes followed by a decrease during the 18 minutes of flooding (maximum range 10.3-2.2 M). The highest levels in the flooding water were concomitant with a decrease of extractable ammonium recorded in the upper sediment layer (2 cm). Laboratory experiments indicated that ammonium is easily extracted from the sediment solids by physical perturbation, as one would expect when tidal water flushes over the intertidal area. This perturbation results in the export of ammonium from the sediment, by pulse mechanisms of short time intervals. On a daily scale this amount is two orders of magnitude higher than transport resulting from molecular diffusion. 相似文献
69.
Santos Carlos Chandler Karen Zimmer Stephen Fisher Paul B. Gunthert Ursula Anderson Kimberly Ward 《Cell biochemistry and biophysics》1995,26(1):1-19
A parallel-plate flow chamber was used to quantify the detachment of normal cloned rat embryo fibroblasts (CREF) fibroblasts,ras-transformed CREF fibroblasts (CREF T24), and CREF T24 fibroblasts transfected with a Krev/RAP1A suppressor gene (HK B1) from
a confluent monolayer of normal CREF fibroblasts to determine if the expression patterns of CD44 variants (mol wt 110 and
140 kDa) corresponded with detachment properties and metastatic potential. In the detachment assay, known shear stresses ranging
from 20–24 dyn/cm2 were applied to the adherent cells and the number of cells detached from the monolayer after 180 s was determined. Results
showed that cellular expression of CD44 variants correlated with the metastatic potential of the cells and with the cells’
ability to detach from a monolayer of normal cells. Western blot analysis showed a low level of expression of the CD44 variants
in the normal cell line, CREF, and the lowly metastatic cell line, HK B1. Detachment studies showed a low percentage of detachment
of both of these cell lines from a normal cell monolayer. Tumor-derived (HK B1-T) and lung nodule-derived (HK B1-M) cell lines
were established and both formed tumors and metastasis with reduced latency periods as compared to HK B1, but still showed
a markedly delayed latency period compared to the highly metastatic cell line, CREF T24. Both of these cell lines showed a
higher expression of the CD44 variants as compared to CREF and HK B1, and detached easier than CREF and HK B1. CREF T24 showed
a much higher level of expression of the variants and had a higher percentage detachment than all other cell lines. To further
test the role of the CD44 variants in the ability of the cells to detach from the normal monolayer, CREF cells were transfected
with a DNA construct that constitutively expresses the CD44 variants and the detachment properties of three randomly selected
clones were studied. Clones 2 and 3 showed a low level of expression of the CD44 variants after transfection and detached
from the normal monolayer similar to CREF. Clone 1 showed a high level of expression of the CD44 variants and the detachment
of these cells was significantly higher than CREF. From these results, it is concluded that in the five cell lines studied,
expression of the CD44 variants play a significant role in the ability of the cells to detach from a monolayer of normal cells.
It is hypothesized that this detachment may be an important component of a cell’s ability to metastasize. 相似文献
70.
An Immunological Assay for Detection and Enumeration of Thermophilic Biomining Microorganisms 总被引:2,自引:1,他引:1 下载免费PDF全文
Ana M. Amaro Kevin B. Hallberg E. Brje Lindstrm Carlos A. Jerez 《Applied microbiology》1994,60(9):3470-3473
A specific, fast, and sensitive nonradioactive immunobinding assay for the detection and enumeration of the moderate thermophile Thiobacillus caldus and the thermophilic archaeon Sulfolobus acidocaldarius was developed. It employs enhanced chemiluminescence or peroxidase-conjugated immunoglobulins in a dot or slot blotting system and is very convenient for monitoring thermophilic bioleaching microorganisms in effluents from industrial bioleaching processes. 相似文献