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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus 总被引:1,自引:0,他引:1
Zhu L Vranckx R Khau Van Kien P Lalande A Boisset N Mathieu F Wegman M Glancy L Gasc JM Brunotte F Bruneval P Wolf JE Michel JB Jeunemaitre X 《Nature genetics》2006,38(3):343-349
We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection (TAAD) and patent ductus arteriosus (PDA) and mapped the disease locus to 16p12.2-p13.13 (ref. 3). We now demonstrate that the disease is caused by mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a specific contractile protein of smooth muscle cells (SMC). All individuals bearing the heterozygous mutations, even if asymptomatic, showed marked aortic stiffness. Examination of pathological aortas showed large areas of medial degeneration with very low SMC content. Abnormal immunological recognition of SM-MHC and the colocalization of wild-type and mutant rod proteins in SMC, in conjunction with differences in their coimmunoprecipitation capacities, strongly suggest a dominant-negative effect. Human MYH11 gene mutations provide the first example of a direct change in a specific SMC protein leading to an inherited arterial disease. 相似文献
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After testosterone propionate treatment (1 or 2 mg per embryo), plasma testosterone in chick embryos rises to 500 times higher than in control animals, and then progressively diminishes during the following days of incubation. These drastic changes in hormonal status after the TP treatment entails consequences that may be considered pharmacological rather than physiological. 相似文献
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A Raynaud P Clairambault S Renous J P Gasc 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1977,285(16):1507-1509
In embryos of Snake-like Reptiles (Anguis fragilis) and of Ophidians (Tropidonotus, Python), the lay-out of motor neuroblast in the ventral horns of the spinal cord, in the brachial and the lumbar regions differs from the one observed in the same regions of embryos of tetrapod Reptiles (Lacerta viridis). 相似文献
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Y Croisille M Gumpel-Pinot J M Gasc 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1977,284(17):1709-1712
By means of purified rabbit anti-adult chicken kidney antibodies two types of antigens have been identified in the mesonephros: one, localised in the cells of the proximal segment of the secretory tubules, the other characteristic of the collecting segments derived from the Wolffian duct. During the transformation of certain mesonephric tubules into ductuli efferentes and conjugentes of the epididymis the collecting tubule antigen disappears whereas the proximal secretory tubule antigen not only persists but can also be detected in the parietal layer of Bowman's capsules as they transform before connecting with the rete testis. 相似文献
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Summary After testosterone propionate treatment (1 or 2 mg per embryo), plasma testosterone in chick embryos rises to 500 times higher than in control animals, and then progressively diminishes during the following days of incubation. These drastic changes in hormonal status after the IP treatment entails consequences that may be considered pharmacological rather than physiological.Acknowledgment. We would like to thank Mrs N. Jeanguyot (UNCEIA, Laboratoire d'hormonologie, Maisons Alfort, France) for her excellent technical assistance in the RIA procedure. 相似文献
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