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111.
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 总被引:3,自引:0,他引:3
J Marcelino J D Carpten W M Suwairi O M Gutierrez S Schwartz C Robbins R Sood I Makalowska A Baxevanis B Johnstone R M Laxer L Zemel C A Kim J K Herd J Ihle C Williams M Johnson V Raman L G Alonso D Brunoni A Gerstein N Papadopoulos S A Bahabri J M Trent M L Warman 《Nature genetics》1999,23(3):319-322
Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have studied the autosomal recessive disorder camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP; MIM 208250) to identify biological pathways that lead to synoviocyte hyperplasia, the principal pathological feature of this syndrome. Using a positional-candidate approach, we identified mutations in a gene (CACP) encoding a secreted proteoglycan as the cause of CACP. The CACP protein, which has previously been identified as both 'megakaryocyte stimulating factor precursor' and 'superficial zone protein', contains domains that have homology to somatomedin B, heparin-binding proteins, mucins and haemopexins. In addition to expression in joint synovium and cartilage, CACP is expressed in non-skeletal tissues including liver and pericardium. The similarity of CACP sequence to that of other protein families and the expression of CACP in non-skeletal tissues suggest it may have diverse biological activities. 相似文献
112.
Structure of an adenine-cytosine base pair in DNA and its implications for mismatch repair 总被引:30,自引:0,他引:30
Mutational pathways rely on introducing changes in the DNA double helix. This may be achieved by the incorporation of a noncomplementary base on replication or during genetic recombination, leading to substitution mutation. In vivo studies have shown that most combinations of base-pair mismatches can be accommodated in the DNA double helix, albeit with varying efficiencies. Fidelity of replication requires the recognition and excision of mismatched bases by proofreading enzymes and post-replicative mismatch repair systems. Rates of excision vary with the type of mismatch and there is some evidence that these are influenced by the nature of the neighbouring sequences. However, there is little experimental information about the molecular structure of mismatches and their effect on the DNA double helix. We have recently determined the crystal structures of several DNA fragments with guanine X thymine and adenine X guanine mismatches in a full turn of a B-DNA helix and now report the nature of the base pairing between adenine and cytosine in an isomorphous fragment. The base pair found in the present study is novel and we believe has not previously been demonstrated. Our results suggest that the enzymatic recognition of mismatches is likely to occur at the level of the base pairs and that the efficiency of repair can be correlated with structural features. 相似文献
113.
Orientation-specific cortical responses develop in early infancy 总被引:3,自引:0,他引:3
Neurones in the visual cortex of higher mammals differ from those elsewhere in the visual pathway in that the majority respond selectively to particular edge or bar orientations in the stimulus. We have developed a visually evoked potential (VEP) technique which isolates the response of orientation-selective mechanisms from that of cortical or sub-cortical neurones which lack orientation selectivity. We are unable to find such orientation-selective responses in newborn human infants within the sensitivity of our method, but repeated longitudinal testing of individual infants shows that measurable responses emerge around 6 weeks of age. This result is consistent with the idea that human cortical visual function is very immature at birth, but develops rapidly in the first two postnatal months. 相似文献
114.
An increase in venous pressure in the rat tail is known to result in acute edema. Acute venous stasis edema of the rat tail was induced by applying a force-controlled banding of standard tension (200 g) proximally for a period of 6-12 h. The hemodynamic changes of acute venous stasis edema were evaluated using non-invasive plethysmography, fluorescence angiography, computer thermography and invasive radioactive microsphere techniques. It is shown here that reduction of tail circulation to 40% of the control value is followed by prolonged vascular disorder characterized by genesis of reversible edema, increased total blood flow to the tail and decreased local cutaneous blood flow, without affecting the general hemodynamics. The cutaneous circulation (decreased blood flow) seems to be principally involved in the edemogenic response, whereas the deeper vessels (hyperemia) may or may not play a determinant role in acute experimental venous stasis edema in rats. 相似文献
115.
Determination of polyamine oxidase activities in human tissues 总被引:2,自引:0,他引:2
A very simple fluorometric assay for polyamine oxidase (PAO) in tissues, with N1-monoacetylspermine as substrate, is described. The PAO was present in all human organs tested; it was highest in the liver, followed by the testis, kidney, spleen and small intestine. 相似文献
116.
A relationship between the amount of available estradiol receptors in uteri of inbred mice and their H-2 genotype is suggested by study in congenic animals. 相似文献
117.
D. E. Maynard O. Gurny R. G. Pitcher R. W. Kierstead 《Cellular and molecular life sciences : CMLS》1971,27(10):1154-1155
Zusammenfassung (–)-8-Tetrahydrocannabinol ist einer der Aktivstoffe in Marihuana (Cannabis sativa L.). Inkubation dieser Verbindung mit der überstehenden Zentrifugationsfraktion (9000g) aus männlicher Hundeleber ergab zwei Hauptmetaboliten, welche durch Massenspektrometrie und Kernresonanzspektroskopie identifiziert wurden. Den beiden Verbindungen werden die Strukturen des 1-Hydroxy-8-tetrahydrocannabinols und des 3-Hydroxy-8-tetrahydrocannabinols zugeordnet. 相似文献
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