排序方式: 共有7条查询结果,搜索用时 15 毫秒
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A POU-domain transcription factor in early stem cells and germ cells of the mammalian embryo 总被引:77,自引:0,他引:77
M H Rosner M A Vigano K Ozato P M Timmons F Poirier P W Rigby L M Staudt 《Nature》1990,345(6277):686-692
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Aubin I Adams CP Opsahl S Septier D Bishop CE Auge N Salvayre R Negre-Salvayre A Goldberg M Guénet JL Poirier C 《Nature genetics》2005,37(8):803-805
The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies. 相似文献
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Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. 总被引:120,自引:0,他引:120
F Cambien O Poirier L Lecerf A Evans J P Cambou D Arveiler G Luc J M Bard L Bara S Ricard 《Nature》1992,359(6396):641-644
Factors involved in the pathogenesis of atherosclerosis, thrombosis and vasoconstriction contribute to the development of coronary heart disease. In a study comparing patients after myocardial infarction with controls, we have explored a possible association between coronary heart disease and a variation found in the gene encoding angiotensin-converting enzyme (ACE). The polymorphism ACE/ID is strongly associated with the level of circulating enzyme. This enzyme plays a key role in the production of angiotensin II and in the catabolism of bradykinin, two peptides involved in the modulation of vascular tone and in the proliferation of smooth muscle cells. Here we report that the DD genotype, which is associated with higher levels of circulating ACE than the ID and II genotypes, is significantly more frequent in patients with myocardial infarction (n = 610) than in controls (n = 733) (P = 0.007), especially among subjects with low body-mass index and low plasma levels of ApoB (P < 0.0001). The ACE/ID polymorphism seems to be a potent risk factor of coronary heart disease in subjects formerly considered to be at low risk according to common criteria. 相似文献
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