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  • 1
    ISSN: 1364-6753
    Keywords: Keywords: limb-girdle muscular dystrophy, δ-sarcoglycan, sarcoglycan complex, immunofluorescence, dystrophin-associated, membrane cytoskeleton
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT The dystrophin-based membrane cytoskeleton of muscle fibers has emerged as a critical multiprotein complex which seems to impart structural integrity on the muscle fiber plasma membrane. Deficiency of dystrophin causes the most common types of muscular dystrophy, Duchenne and Becker muscular dystrophies. Muscular dystrophy patients showing normal dystrophin protein and gene analysis are generally isolated cases with a presumed autosomal recessive inheritance pattern (limb-girdle muscular dystrophy). Recently, linkage and candidate gene analyses have shown that some cases of limb-girdle muscular dystrophy can be caused by deficiency of other components of the dystrophin membrane cytoskeleton. The most recently identified component, δ-sarcoglycan deficiency occurred in other world populations, to identify the range of mutations and clinical phenotypes, and to test for the biochemical consequences of δ-sarcoglycan gene mutations, we studied Duchenne-like and limb-girdle muscular dystrophy patients who we had previously shown not to exhibit gene mutations of dystrophin, α-, β-, or γ-sarcoglycan for δ-sarcoglycan mutations (n = 54). We identified two American patients with novel nonsense mutations of δ-sarcoglycan (W30X, R165X). One was apparently homozygous, and we show likely consanguinity through homozygosity for 13 microsatellite loci covering a 38 cM region of chromosome 5. The second was heterozygous. Both were girls who showed clinical symptoms consistent with Duchenne muscular dystrophy in males. Our data shows that δ-sarcoglycan deficiency occurs in other world populations, and that most or all patients show a deficiency of the entire sarcoglycan complex, adding support to the hypothesis that these proteins function as a tetrameric unit.
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  • 2
    ISSN: 1423-0127
    Keywords: Cell-mediated immunity ; Lymphocyte proliferation ; HIV-1 ; β-Chemokines
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The impairment of lymphocytes to proliferate to HIV antigen is a relatively early functional defect of cell-mediated immunity found in HIV-infected individuals. The finding of strong proliferative responses in nonprogressive HIV disease as well as its inverse association with viral load and clinical manifestation of AIDS supports the further use of this marker as a surrogate of disease progression. The observation that HIV-specific lymphocyte proliferation is associated with the production of CD8-derived HIV suppressive factors such as the β-chemokines further supports this conclusion. These functional immune measurements provide an additional marker to monitor disease progression in HIV-infected individuals, along with the current standards of CD4 counts and viral load.
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  • 3
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Extracellular amyloid β-peptide (Aβ) deposition is a pathological feature of Alzheimer's disease and the aging brain. Intracellular Aβ accumulation is observed in the human muscle disease, inclusion body myositis. Aβ has been reported to be toxic to neurons through disruption of normal calcium homeostasis. The pathogenic role of Aβ in inclusion body myositis is not as clear. Elevation of intracellular calcium following application of calcium ionophore increases the generation of Aβ from its precursor protein (βAPP). A receptor-based mechanism for the increase in Aβ production has not been reported to our knowledge. Here, we use caffeine to stimulate ryanodine receptor (RYR)-regulated intracellular calcium release channels and show that internal calcium stores also participate in the genesis of Aβ. In cultured HEK293 cells transfected with βAPP cDNA, caffeine (5–10 mM) significantly increased the release of Aβ fourfold compared with control. These actions of caffeine were saturable, modulated by ryanodine, and inhibited by the RYR antagonists ruthenium red and procaine. The calcium reuptake inhibitors thapsigargin and cyclopiazonic acid potentiated caffeine-stimulated Aβ release. NH4Cl and monensin, agents that alter acidic gradients in intracellular vesicles, abolished both the caffeine and ionophore effects. Immunocytochemical studies showed some correspondence between the distribution patterns of RYR and cellular βAPP immunoreactivities. The relevance of these findings to Alzheimer's disease and inclusion body myositis is discussed.
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  • 4
    ISSN: 1440-1681
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: 1. The binding of l,3-[3H]-dipropyl-8-cyclopentylxanthine ([3H]-DPCPX), a specific adenosine Ai receptor antagonist, was examined in rat vas deferens membrane preparations using radioligand binding techniques.2. l,3-[3H]-Dipropyl-8-cyclopentylxanthine bound to these preparations with a KD of 1.07 ± 0.14 nmol/L (n = 6). The density of [3H]-DPCPX binding sites was 133.38 ± 5.57 fmol/mg protein.3. Computer analysis indicated that nucleosides competed for [3H]-DPCPX binding at two distinct sites. The rank order of potency at the higher affinity site corresponded to R-phenyliso-propyladenosine (R-PIA) 〈inlineGraphic alt="geqslant R: gt-or-equal, slanted" extraInfo="nonStandardEntity" href="urn:x-wiley:03051870:CEP492:ges" location="ges.gif"/〉 2-chloroadenosine (2-CI ADO) 〈inlineGraphic alt="geqslant R: gt-or-equal, slanted" extraInfo="nonStandardEntity" href="urn:x-wiley:03051870:CEP492:ges" location="ges.gif"/〉 cyclopentyladenosine (CPA) 〈inlineGraphic alt="geqslant R: gt-or-equal, slanted" extraInfo="nonStandardEntity" href="urn:x-wiley:03051870:CEP492:ges" location="ges.gif"/〉 N-ethylcarboxamidoadenosine (NECA)〉s-phenylisopropyladenosine (s-PIA). Kj values were in the low nmol/L range. The rank order of nucleoside potency at the lower affinity site corresponded to R-PIA 〈inlineGraphic alt="geqslant R: gt-or-equal, slanted" extraInfo="nonStandardEntity" href="urn:x-wiley:03051870:CEP492:ges" location="ges.gif"/〉 CPA 〈inlineGraphic alt="geqslant R: gt-or-equal, slanted" extraInfo="nonStandardEntity" href="urn:x-wiley:03051870:CEP492:ges" location="ges.gif"/〉NECA〉=2-ClADO〉 S-PIA. Ki values were in the low μmol/L range.4. Nucleotides competed for [3H]-DPCPX binding at a single site only. The rank order of potency at this site corresponded to a,β-methylene ATP 〈inlineGraphic alt="geqslant R: gt-or-equal, slanted" extraInfo="nonStandardEntity" href="urn:x-wiley:03051870:CEP492:ges" location="ges.gif"/〉βγ-methylene ATP 〈inlineGraphic alt="geqslant R: gt-or-equal, slanted" extraInfo="nonStandardEntity" href="urn:x-wiley:03051870:CEP492:ges" location="ges.gif"/〉= ATP. Ki values were in the high |xmol/L range. This site seemed to correspond with one of the two binding sites predicted by nucleoside competition binding.5. The ATP-regenerating compound myokinase did not significantly change the competition curve for ATP, indicating that the competition for [3H]-DPCPX binding observed in the presence of ATP was due to an effect of ATP per se and not to an action of a degradation product.6. The results demonstrate that in rat vasa deferentia there exist two distinct binding sites for [3H]-DPCPX. One of these sites binds only nucleosides and may represent an adenosine Ai receptor, as usually defined. The other site binds both nucleosides and nucleotides and may represent an atypical adenosine A1 receptor, an atypical P2 or a P3 purinoceptor.
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  • 5
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We have previously shown that human metallopanstimulin (MPS-1) is a ubiquitous 9.4-kDa multifunctional ribosomal S27/nuclear “zinc finger” protein which is expressed at high levels in a wide variety of cultured proliferating cells and tumor tissues, including melanoma. In the present study, we have examined the expression of the MPS-1 protein in various types of human benign and malignant melanocytic lesions of the skin. The expression of the MPS-1 protein was studied by immunohistochemistry using specific anti-MPS-1 antibodies. We found that in benign nevi, the staining is weak and in a gradient; most often, only type A melanocytes stain positive. The B and particularly the C types are negative. Remarkably, congenital nevi show a similar gradient staining of regular benign nevi, but in addition one example showed intensely positive dermal nodules adjacent to areas of negative melanocytes. In melanomas, the staining patterns for MPS-1 are more complex. While some melanomas stain evenly and intensely positive, others have remarkably variable expression of MPS-1. The scattered melanocytes migrating to the upper layers of the epidermis are usually intensely positive. In summary, benign lesions stain in an orderly pattern with staining gradients that correlate with the cellular differentiation of the nevi. Malignant melanomas have an erratic, often intense staining that also correlates with the disorderly growth of these neoplasms. These differential results indicate that the MPS-1 antigen is a useful marker for melanocytic lesions at the immunohistochemical level.
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  • 6
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The mechanism by which mutations in the presenilin (PS) genes cause the most aggressive form of early-onset Alzheimer's disease (AD) is unknown, but fibroblasts from mutation carriers secrete increased levels of the amyloidogenic Aβ42 peptide, the main component of AD plaques. We established ...
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  • 7
    ISSN: 1520-5126
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
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  • 8
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: The ground and first excited singlet states of monochlorosilylene have been reexamined using pulsed discharge jet and laser induced fluorescence techniques. HSiCl and DSiCl have been produced by an electric discharge through SiHCl3 and SiDCl3 vapor in argon. The 000 band rotational constants of four isotopomers of HSiCl and the harmonic force fields for both states have been combined to obtain the following estimates of the equilibrium structures: r′′(SiCl)=2.067(3) Å, r′′(SiH)=1.525(5) Å, θ′′(HSiCl)=96.9(5)°, r(SiCl)=2.040(3) Å, r(SiH)=1.532(8) Å, and θ(HSiCl)=118.1(5)°. Previous anomalies in the ground-state structure and the excited-state vibrational frequencies have been resolved. The radiative lifetime of the 480–400 nm (A˜ 1A′′–X˜ 1A) band system of HSiCl has been measured to be 432±20 ns. © 1997 American Institute of Physics.
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  • 9
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 106 (1997), S. 7479-7490 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: The vibrational and electronic spectra of hexafluorothioacetone, (CF3)2CS, a novel blue gas, have been studied. Ab initio calculations of the vibrational properties of CF3COF, CF3CSF, and (CF3)2CO were used to establish the feasibility and effectiveness of using theoretical predictions in the analysis of the spectra of perfluorinated compounds. These predictions have allowed us to obtain revised interpretations of the spectra of trifluoroacetyl fluoride and trifluorothioacetyl fluoride that are consistent with both experiment and theory and have allowed us to confirm a previous theoretical and experimental study of the spectrum of hexafluoroacetone. Similar calculations on hexafluorothioacetone predicted a ground state of C2 symmetry, with the CF3 groups staggered in an antieclipsed configuration and a pattern of vibrational frequencies similar to that of hexafluoroacetone. The gas phase and argon matrix infrared spectra and the Raman spectrum of hexafluorothioacetone were analyzed with the aid of the ab initio predictions and 20 of the 24 fundamentals were assigned. The blue color of the compound originates from very weak T1–S0 (800–675 nm) and S1–S0 (725–400 nm) transitions in the visible due to the n–π* electron promotion. Promotion of an electron from the π to the π* orbital gives rise to a very strong electronic transition in the 230–190 nm region of the ultraviolet. No emission was observed on laser excitation of hexafluorothioacetone in the visible. © 1997 American Institute of Physics.
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  • 10
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 106 (1997), S. 4367-4375 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: The jet-cooled laser induced fluorescence excitation spectrum of the A˜ 1A′′−X˜ 1A band system of DSiF has been observed using the pulsed discharge jet technique. Vibrational analysis of the spectrum yielded upper state harmonic vibrational frequencies of ω1=1322, ω2=444, and ω3=867 cm−1. Vibronic bands involving all of the upper state fundamentals of HSiF and DSiF have now been rotationally analyzed, allowing a determination of the excited state equilibrium structure as re′(SiH)=1.526±0.014 Å, re′(SiF)=1.597±0.003 Å, and θe′(HSiF)=115.0±0.6°. The harmonic frequencies and centrifugal distortion constants were used to obtain harmonic force fields and average (rz) structures for the ground and excited states. The ground state average structure was used to estimate the equilibrium structure of re″(SiH)=1.528±0.005 Å, re″(SiF)=1.603±0.003 Å, and θe″(HSiF)=96.9±0.5°. © 1997 American Institute of Physics.
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