排序方式: 共有21条查询结果,搜索用时 31 毫秒
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Douglas JF Iwasawa H Sun Z Fedorov AV Ishikado M Saitoh T Eisaki H Bando H Iwase T Ino A Arita M Shimada K Namatame H Taniguchi M Masui T Tajima S Fujita K Uchida S Aiura Y Dessau DS 《Nature》2007,446(7133):E5
The possibility that a pairing boson might act as the 'glue' to bind electrons into a Cooper pair in superconductors with a high critical temperature (T(c)) is being actively pursued in condensed-matter physics. Gweon et al. claim that there is a large and unusual oxygen-isotope effect on the electronic structure, indicating that phonons have a special importance in high-temperature superconductors. However, we are unable to detect this unusual oxygen-isotope effect in new data collected under almost identical material and experimental conditions. Our findings point towards a more conventional influence of phonons in these materials. 相似文献
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome 总被引:15,自引:0,他引:15
Niihori T Aoki Y Narumi Y Neri G Cavé H Verloes A Okamoto N Hennekam RC Gillessen-Kaesbach G Wieczorek D Kavamura MI Kurosawa K Ohashi H Wilson L Heron D Bonneau D Corona G Kaname T Naritomi K Baumann C Matsumoto N Kato K Kure S Matsubara Y 《Nature genetics》2006,38(3):294-296
Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. In 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders. 相似文献
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Kagami M Sekita Y Nishimura G Irie M Kato F Okada M Yamamori S Kishimoto H Nakayama M Tanaka Y Matsuoka K Takahashi T Noguchi M Tanaka Y Masumoto K Utsunomiya T Kouzan H Komatsu Y Ohashi H Kurosawa K Kosaki K Ferguson-Smith AC Ishino F Ogata T 《Nature genetics》2008,40(2):237-242
Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3 (also known as GTL2), RTL1as (RTL1 antisense) and MEG8 (refs. 1,2), together with the intergenic differentially methylated region (IG-DMR) and the MEG3-DMR. Consistent with this, paternal and maternal uniparental disomy for chromosome 14 (upd(14)pat and upd(14)mat) cause distinct phenotypes. We studied eight individuals (cases 1-8) with a upd(14)pat-like phenotype and three individuals (cases 9-11) with a upd(14)mat-like phenotype in the absence of upd(14) and identified various deletions and epimutations affecting the imprinted region. The results, together with recent mouse data, imply that the IG-DMR has an important cis-acting regulatory function on the maternally inherited chromosome and that excessive RTL1 expression and decreased DLK1 and RTL1 expression are relevant to upd(14)pat-like and upd(14)mat-like phenotypes, respectively. 相似文献
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CO2 regulator SLAC1 and its homologues are essential for anion homeostasis in plant cells 总被引:1,自引:0,他引:1
Negi J Matsuda O Nagasawa T Oba Y Takahashi H Kawai-Yamada M Uchimiya H Hashimoto M Iba K 《Nature》2008,452(7186):483-486
The continuing rise in atmospheric [CO2] is predicted to have diverse and dramatic effects on the productivity of agriculture, plant ecosystems and gas exchange. Stomatal pores in the epidermis provide gates for the exchange of CO2 and water between plants and the atmosphere, processes vital to plant life. Increased [CO2] has been shown to enhance anion channel activity proposed to mediate efflux of osmoregulatory anions (Cl- and malate(2-)) from guard cells during stomatal closure. However, the genes encoding anion efflux channels in plant plasma membranes remain unknown. Here we report the isolation of an Arabidopsis gene, SLAC1 (SLOW ANION CHANNEL-ASSOCIATED 1, At1g12480), which mediates CO2 sensitivity in regulation of plant gas exchange. The SLAC1 protein is a distant homologue of bacterial and fungal C4-dicarboxylate transporters, and is localized specifically to the plasma membrane of guard cells. It belongs to a protein family that in Arabidopsis consists of four structurally related members that are common in their plasma membrane localization, but show distinct tissue-specific expression patterns. The loss-of-function mutation in SLAC1 was accompanied by an over-accumulation of the osmoregulatory anions in guard cell protoplasts. Guard-cell-specific expression of SLAC1 or its family members resulted in restoration of the wild-type stomatal responses, including CO2 sensitivity, and also in the dissipation of the over-accumulated anions. These results suggest that SLAC1-family proteins have an evolutionarily conserved function that is required for the maintenance of organic/inorganic anion homeostasis on the cellular level. 相似文献
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Membrane-bound respiratory [NiFe]-hydrogenase (MBH), a H(2)-uptake enzyme found in the periplasmic space of bacteria, catalyses the oxidation of dihydrogen: H(2)?→?2H(+)?+?2e(-) (ref. 1). In contrast to the well-studied O(2)-sensitive [NiFe]-hydrogenases (referred to as the standard enzymes), MBH has an O(2)-tolerant H(2) oxidation activity; however, the mechanism of O(2) tolerance is unclear. Here we report the crystal structures of Hydrogenovibrio marinus MBH in three different redox conditions at resolutions between 1.18 and 1.32??. We find that the proximal iron-sulphur (Fe-S) cluster of MBH has a [4Fe-3S] structure coordinated by six cysteine residues--in contrast to the [4Fe-4S] cubane structure coordinated by four cysteine residues found in the proximal Fe-S cluster of the standard enzymes--and that an amide nitrogen of the polypeptide backbone is deprotonated and additionally coordinates the cluster when chemically oxidized, thus stabilizing the superoxidized state of the cluster. The structure of MBH is very similar to that of the O(2)-sensitive standard enzymes except for the proximal Fe-S cluster. Our results give a reasonable explanation why the O(2) tolerance of MBH is attributable to the unique proximal Fe-S cluster; we propose that the cluster is not only a component of the electron transfer for the catalytic cycle, but that it also donates two electrons and one proton crucial for the appropriate reduction of O(2) in preventing the formation of an unready, inactive state of the enzyme. 相似文献
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介绍了一种通过轮廓线变化描述图像构图特征,采用机器学习获取图像方向分类模型的手法,通过试验验证了该手法的有效性,并对其存在问题和改进方向进行讨论。 相似文献
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Germline mutations in HRAS proto-oncogene cause Costello syndrome 总被引:17,自引:0,他引:17
Aoki Y Niihori T Kawame H Kurosawa K Ohashi H Tanaka Y Filocamo M Kato K Suzuki Y Kure S Matsubara Y 《Nature genetics》2005,37(10):1038-1040
Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We identified four heterozygous de novo mutations of HRAS in 12 of 13 affected individuals, all of which were previously reported as somatic and oncogenic mutations in various tumors. Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors. 相似文献