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Roscioli T Kamsteeg EJ Buysse K Maystadt I van Reeuwijk J van den Elzen C van Beusekom E Riemersma M Pfundt R Vissers LE Schraders M Altunoglu U Buckley MF Brunner HG Grisart B Zhou H Veltman JA Gilissen C Mancini GM Delrée P Willemsen MA Ramadža DP Chitayat D Bennett C Sheridan E Peeters EA Tan-Sindhunata GM de Die-Smulders CE Devriendt K Kayserili H El-Hashash OA Stemple DL Lefeber DJ Lin YY van Bokhoven H 《Nature genetics》2012,44(5):581-585
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates. 相似文献
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Vissers LE van Ravenswaaij CM Admiraal R Hurst JA de Vries BB Janssen IM van der Vliet WA Huys EH de Jong PJ Hamel BC Schoenmakers EF Brunner HG Veltman JA van Kessel AG 《Nature genetics》2004,36(9):955-957
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals. 相似文献
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随机纳米碳管网络及其渗流性质 总被引:1,自引:0,他引:1
数值模拟了实验上构造纳米碳管网络的溶液沉积方法.与一般的随机网络模型不同,将碳管的长度计算在内,而且考虑了不同的空间相交位形.数值模拟发现网络的度分布为高斯分布,平均集聚系数约为0.11.当网络中碳管平均面密度取值在σ0=179 200根/cm2附近时,网络系综达到渗流.在临界点附近,网络的连通概率p、两极之间电导G、... 相似文献
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以半胱氨酸为配体合成一种新型亚金配合物NH4Au(Cys)2,对该配合物进行元素分析、红外光谱、紫外光谱、热失重分析和导电性测量等理化性质研究;以该亚金配合物为金源开展相关的电镀金工艺探索,并通过四因素三水平的正交试验获得其最佳条件参数;采用扫描电子显微镜(SEM)和X线衍射(XRD)对镀金层的表面质量进行探讨。研究结果表明:该目标产物的分子式为NH4Au(Cys)2·2H2O,该配合物中以半胱氨酸的巯基和金配位为成健特征,在170℃以下热稳定性较好,该亚金配合物是一个典型的离子化合物。在电流密度为200~300 A/m2,p H为10.5~12.0,温度为35~45℃,金质量浓度为15~25 g/L的电镀工艺条件下,得到粒度为0.5~1.0μm的单质金,且主要沿着(111)面进行生长。 相似文献
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本文在分析CCT-88/51/98教学实验系统监控程序的基础上,对该教学实验系统监控程序中存在的问题作出了一些改进。 相似文献
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Hoischen A van Bon BW Rodríguez-Santiago B Gilissen C Vissers LE de Vries P Janssen I van Lier B Hastings R Smithson SF Newbury-Ecob R Kjaergaard S Goodship J McGowan R Bartholdi D Rauch A Peippo M Cobben JM Wieczorek D Gillessen-Kaesbach G Veltman JA Brunner HG de Vries BB 《Nature genetics》2011,43(8):729-731
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. 相似文献
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用脸谱图对太子河本溪市区段河流沉积物中重金属污染进行评价的研究 总被引:9,自引:0,他引:9
本文将沉积学原理及国际上新发展的两种重金属污染评价方法与多变量的图表示法——脸谱图相结合,对太子河本溪市区段河道沉积物中重金属的污染状况及潜在生态危害进行了综合性的评价研究。从脸谱图上可以直观地看出各采样点重金属的污染情况和潜在生态危害程度。从研究结果可以看出,太子河本溪市区段河道沉积物中重金属的污染是很严重的。 相似文献
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图像分割是一种重要的图像分析技术,它不仅得到人们广泛的重视和研究,也在实际中得到大量的应用。本文针对一些经典分割算法对多梯度复杂图像分割边缘定位不准确,易受噪声干扰的特点,提出了一种利用图像边缘区域对多梯度复杂图像进行自适应阈值分割的算法。通过对各种算法的比较,本算法抗干扰能力较强,稳定性好,而且完全自动,不需预先设定任何参数。对多种图像的实验表明本文方法十分有效。 相似文献