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排序方式: 共有839条查询结果,搜索用时 234 毫秒
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Morrow EM Yoo SY Flavell SW Kim TK Lin Y Hill RS Mukaddes NM Balkhy S Gascon G Hashmi A Al-Saad S Ware J Joseph RM Greenblatt R Gleason D Ertelt JA Apse KA Bodell A Partlow JN Barry B Yao H Markianos K Ferland RJ Greenberg ME Walsh CA 《Science (New York, N.Y.)》2008,321(5886):218-223
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of "homozygosity mapping" in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations. 相似文献
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Julia Griffin 2011年10月在互联网发表的论文"Ensuring Certified Supply"报道了零售商B&Q公司(百安居)实现了所售木材商品全部来自可持续来源,同时也指出了,木材供应可持续发展面临着难题和挑战仍有很长的路要走。 相似文献
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A new copepod species, Acanthochondria sagitta sp. n., is described based on specimens collected from the flounder Xystreurys rasile (Jordan) (Pleuronectiformes, Paralichthyidae), caught in the coastal waters off Necochea, Buenos Aires Province, Argentina. The new species differs from its congeners by the following combination of characters: presence of three pairs of cephalic outgrowths; the triangular shape of the trunk with diverging postero-lateral processes; leg 2 of an intermediate shape between Types C and D, which projects laterally from the trunk, and Type B-V antennule bearing two proximal processes (one ventral and one dorsal) on the swollen basal portion. 相似文献
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Kaese HJ Valberg SJ Hayden DW Wilson JH Charlton P Ames TR Al-Ghamdi GM 《Journal of the American Veterinary Medical Association》2005,226(11):1893-8, 1845
Five horses were examined because of signs of muscle stiffness, colic, or both. All 5 had been exposed to Streptococcus equi within 3 weeks prior to examination or had high serum titers of antibodies against the M protein of S equi. Horses had signs of unrelenting colic-like pain and focal areas of muscle swelling. Four horses were euthanatized. The fifth responded to treatment with penicillin and dexamethasone; after 3 weeks of treatment with dexamethasone, prednisolone was administered for an additional 10 weeks. Common hematologic and serum biochemical abnormalities included neutrophilia with a left shift and toxic changes, hyperproteinemia, hypoalbuminemia, and high serum creatine kinase and aspartate transferase activities. Necropsy revealed extensive infarction of the skeletal musculature, skin, gastrointestinal tract, pancreas, and lungs. Histologic lesions included leukocytoclastic vasculitis in numerous tissues and acute coagulative necrosis resembling infarction. These horses appeared to have a severe form of purpura hemorrhagica resembling Henoch-Sch?nlein purpura in humans and characterized by infarction of skeletal muscles. Early recognition of focal muscle swelling, abdominal discomfort, neutrophilia, hypoalbuminemia, and high serum creatine kinase activity combined with antimicrobial and corticosteroid treatment may enhance the likelihood of a successful outcome. 相似文献
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