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排序方式: 共有97条查询结果,搜索用时 15 毫秒
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PD Dr. I. Kurth 《Medizinische Genetik》2011,23(1):15-20
The sensory nervous system detects pressure, touch, stretching, heat, and cold and translates these stimuli into action potentials. To protect the body from tissue damage acute pain is felt when a stimulus gains a critical intensity. The combination of impaired nociception and autonomic dysfunction is the hallmark of hereditary sensory and autonomic neuropathies (HSAN). Sensory loss in HSAN patients results in ulcerations of hands and feet and may necessitate amputations. Congenital onset of HSAN leads to self-mutilating behavior in affected children. Degeneration of motor neurons can complicate the disease. HSAN is divided into five groups according to clinical symptoms. So far, nine genes have been identified as causative for the disorder. The present article reviews the clinical, genetic, and pathophysiological aspects of HSAN. 相似文献
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As outlined in other articles of this issue mitochondrial medicine is a complex area in clinical genetics. Due to the wide variability of clinical presentation in both pediatric and adult patients there are frequent constellations of symptoms that may suggest an underlying mitochondrial disorder. This is a challenge in genetic counseling because basically all patterns of inheritance have to be taken into account??including maternal transmission??but a straightforward genetic testing to confirm or exclude the suggested diagnosis is hampered by the immense genetic heterogeneity of the mitochondrial disease spectrum. This article focuses on a diagnostic strategy and specific aspects of genetic counseling in mitochondrial disorders. 相似文献
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The protein kinase mammalian target of rapamycin (mTOR) is a central regulator of cell proliferation and growth, with the ribosomal subunit S6 kinase 1 (S6K1) as one of the key downstream signaling effectors. A critical role of mTOR signaling in skeletal muscle differentiation has been identified recently, and an unusual regulatory mechanism independent of mTOR kinase activity and S6K1 is revealed. An mTOR pathway has also been reported to regulate skeletal muscle hypertrophy, but the regulatory mechanism is not completely understood. Here, we report the investigation of mTOR's function in insulin growth factor I (IGF-I)-induced C2C12 myotube hypertrophy. Added at a later stage when rapamycin no longer had any effect on normal myocyte differentiation, rapamycin completely blocked myocyte hypertrophy as measured by myotube diameter. Importantly, a concerted increase of average myonuclei per myotube was observed in IGF-I-stimulated myotubes, which was also inhibited by rapamycin added at a time when it no longer affected normal differentiation. The mTOR protein level, its catalytic activity, its phosphorylation on Ser2448, and the activity of S6K1 were all found increased in IGF-I-stimulated myotubes compared to unstimulated myotubes. Using C2C12 cells stably expressing rapamycin-resistant forms of mTOR and S6K1, we provide genetic evidence for the requirement of mTOR and its downstream effector S6K1 in the regulation of myotube hypertrophy. Our results suggest distinct mTOR signaling mechanisms in different stages of skeletal muscle development: While mTOR regulates the initial myoblast differentiation in a kinase-independent and S6K1-independent manner, the hypertrophic function of mTOR requires its kinase activity and employs S6K1 as a downstream effector. 相似文献
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PD Dr. rer. nat. Haide Breucker Elke Schäfer Adolf-Friedrich Holstein 《Cell and tissue research》1985,240(2):303-309
Summary In the human testis the formation of the residual body of the spermatid and its morphological changes during and after spermiation were studied by means of electron microscopy. The caudal cytoplasmic mass of the late spermatid contains a Golgi complex, mitochondria, annulate lamellae, a chromatoid body, flower-like structures, ribosomes, a few large vacuoles, myelin-like membrane profiles and sporadic lipid droplets. When, by detachment of the caudal cytoplasm from the free spermatozoon, the residual body is formed, the chromatoid body has disappeared; the mitochondria are clustered peripherally; the ribosomes appear as a single complex in contact with a large vacuole containing granular material; in place of the Golgi complex aggregations of vesicles are present. The lipid droplets remain unchanged. The residual bodies or their fragments are either extruded via the seminiferous tubular lumen into the excurrent ducts or they are engulfed by Sertoli cells where in the supranuclear region the successive steps of decomposition can be observed. The participation of the various constituents in the disintegration of the residual body is discussed. In contrast to other mammalian species, in man the sporadic lipid droplets seem to be of minor importance in the fate of the residual body. 相似文献
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PD Dr. Hermann Rink Dipl.-Biol. H. -J. Partke 《Radiation and environmental biophysics》1975,12(2):119-125
Yeast cells, Saccharomyces uvarum, were irradiated with X-rays and grown in liquid suspension. Glucose as the only carbon source was limited to 12.5 mM. Under these conditions giant cells are formed. Cell number, glucose utilization, ethanol production and oxygen consumption are measured during the time of growth. The mean weight of single cells in the stationary phase increases up to 75 krad and is not due to an uptake of water. In irradiated cultures oxygen consumption and glucose utilization per cell are higher than in control cells. The data demonstrate that synthesis- and energy-metabolism during the formation of non-dividing, radiation-induced giant cells is increased. 相似文献
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PD Dr. Karl Zilles Axel Schleicher Hans -Joachim Kretschmann 《Cell and tissue research》1978,190(2):285-299
Summary The grey level index (= GLI) and the fresh volume were determined with the image analyser Micro-Videomat for the nucl. n. facialis after axotomy of the left n. facialis. The experiments were performed on 10 rats in different stages of ontogenesis. The GLI is a quantitative parameter which could be quickly obtained and which demonstrated quantitative changes during retrograde reaction in the respective centres. A decrease in the fresh volumes of the affected nucl. n. facialis could also be demonstrated. The meaning of GLI is discussed.Supported by Deutsche Forschungsgemeinschaft grants Kr 289/10 and Zi 192/1Dedicated to Prof. Dr. H. Leonhardt on the occasion of his 60th birthday 相似文献
69.
Development and Application of a Monoclonal-Antibody Technique for Counting Aureococcus anophagefferens, an Alga Causing Recurrent Brown Tides in the Mid-Atlantic United States
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David A. Caron Mark R. Dennett Dawn M. Moran Rebecca A. Schaffner Darcy J. Lonsdale Christopher J. Gobler Robert Nuzzi Tim I. McLean 《Applied microbiology》2003,69(9):5492-5502
A method was developed for the rapid detection and enumeration of Aureococcus anophagefferens, the cause of harmful algal blooms called “brown tides” in estuaries of the Mid-Atlantic United States. The method employs a monoclonal antibody (MAb) and a colorimetric, enzyme-linked immunosorbent assay format. The MAb obtained exhibits high reactivity with A. anophagefferens and very low cross-reactivities with a phylogenetically diverse array of other protists and bacteria. Standard curves are constructed for each 96-well microtiter plate by using known amounts of a preserved culture of A. anophagefferens. This approach allows estimation of the abundance of the alga in natural samples. The MAb method was compared to an existing method that employs polyclonal antibodies and epifluorescence microscopy and to direct microscopic counts of A. anophagefferens in samples with high abundances of the alga. The MAb method provided increased quantitative accuracy and greatly reduced sample processing time. A spatial survey of several Long Island estuaries in May 2000 using this new approach documented a range of abundances of A. anophagefferens in these bays spanning nearly 3 orders of magnitude. 相似文献
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