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排序方式: 共有1328条查询结果,搜索用时 15 毫秒
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Anderson BH Kasher PR Mayer J Szynkiewicz M Jenkinson EM Bhaskar SS Urquhart JE Daly SB Dickerson JE O'Sullivan J Leibundgut EO Muter J Abdel-Salem GM Babul-Hirji R Baxter P Berger A Bonafé L Brunstom-Hernandez JE Buckard JA Chitayat D Chong WK Cordelli DM Ferreira P Fluss J Forrest EH Franzoni E Garone C Hammans SR Houge G Hughes I Jacquemont S Jeannet PY Jefferson RJ Kumar R Kutschke G Lundberg S Lourenço CM Mehta R Naidu S Nischal KK Nunes L Ounap K Philippart M Prabhakar P Risen SR 《Nature genetics》2012,44(3):338-342
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity. 相似文献
23.
Hahn CN Chong CE Carmichael CL Wilkins EJ Brautigan PJ Li XC Babic M Lin M Carmagnac A Lee YK Kok CH Gagliardi L Friend KL Ekert PG Butcher CM Brown AL Lewis ID To LB Timms AE Storek J Moore S Altree M Escher R Bardy PG Suthers GK D'Andrea RJ Horwitz MS Scott HS 《Nature genetics》2011,43(10):1012-1017
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为了对弹丸侵彻钢纤维混凝土问题进行数值模拟研究,在有限元计算中引入了Holmquist-Johnson-Cook累积损伤材料模型以描述钢纤维混凝土的非线性变形及断裂特性,弹丸作为刚体处理.侵彻深度计算结果与在φ14.5 mm弹道炮上所获得的试验结果相吻合,并很好地模拟了在侵彻过程中钢纤维混凝土靶的成坑、层裂现象.在此基础上分析了钢纤维混凝土这种新型复合材料抗侵彻性能的影响因素.计算结果表明,HJC本构模型用来描述钢纤维混凝土的侵彻问题是可行和有效的. 相似文献
25.
Zhang Lifan Liu Chong Lian Linsheng Zhao Chunjiang Bao Haigang Wu Changxin 《自然科学进展(英文版)》2007,17(12):1419-1424
Globin protein family plays an important role in storing and transporting oxygen. As a newly reported globin, the revealed function of neuroglobin includes binding and storing oxygen as well as facilitating the utilization of oxygen in neuronal cells. In the present study, mutations in exons of chicken Ngb gene were identified with the method of sequencing and created restriction site PCR in Tibet chicken and other four lowland chicken breeds. The mutations of Lys-2224(E4)-Asn and Ser-2279(E4)-Gly were identified in exon 4 of the gene. The Lys-2224(E4)-Asn mutation existed only in Tibet chicken and the mutation frequencies increased with increasing altitude. Analysis of the haplotype and diplotype of the two mutations in Tibet chicken populations of different altitudes showed that the frequencies of TG haplotype and TTGG diplotype also increased with increasing altitude, while the reverse tendency was found on GGAA diplotype. Under the hypoxic simulation incubation, the main haplotype was TG in living embryos and GA in dead embryos. The results showed that the Lys-2224(E4)-Asn mutation may be a specific mutation associated with hypoxia adaptation in Tibet chicken. 相似文献
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关于Huxley方程高阶奇点的定性分析 总被引:1,自引:1,他引:0
Huxley方程在y轴两个方向上的无穷远点为不定号情况下的高阶奇点,利用水平等倾线与垂直等倾线构成的曲边扇形域来研究该类奇点轨线的定性结构,得到了y轴两个方向上的无穷远点有无数条积分曲线进入或走出的结论。 相似文献
28.
目的:观察骨折便秘患者及肿瘤化疗便秘患者食用柏仁粥后的疗效.方法:将30例便秘患者随机分为治疗组和对照组,其中治疗组连续1周每日早餐给予柏仁粥50g(含柏仁7g),对照组每日早餐给予其它粥类50g,午餐、晚餐均提供日常饮食.每天记录观察对象的情况.结果:在未服用任何泻药及外用开塞露的情况下,治疗组患者均在1-2天排出粪便,便量多,粪便逐渐稀软,排便困难情况有所缓解,腹胀腹痛等不适症状明显减轻,对照组患者解便频率较治疗组低,便量较少,粪便较为干结,排便困难(P〈0.05).结论:部分住院便秘患者服用柏仁粥后可以明显改善其便秘情况. 相似文献
29.
Krakow D Robertson SP King LM Morgan T Sebald ET Bertolotto C Wachsmann-Hogiu S Acuna D Shapiro SS Takafuta T Aftimos S Kim CA Firth H Steiner CE Cormier-Daire V Superti-Furga A Bonafe L Graham JM Grix A Bacino CA Allanson J Bialer MG Lachman RS Rimoin DL Cohn DH 《Nature genetics》2004,36(4):405-410
The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell membrane to the cytoskeleton and serving as scaffolds on which intracellular signaling and protein trafficking pathways are organized (reviewed in refs. 1,2). We identified mutations in the gene encoding filamin B in four human skeletal disorders. We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721). We found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse. These data indicate an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein. 相似文献
30.
Thibault ST Singer MA Miyazaki WY Milash B Dompe NA Singh CM Buchholz R Demsky M Fawcett R Francis-Lang HL Ryner L Cheung LM Chong A Erickson C Fisher WW Greer K Hartouni SR Howie E Jakkula L Joo D Killpack K Laufer A Mazzotta J Smith RD Stevens LM Stuber C Tan LR Ventura R Woo A Zakrajsek I Zhao L Chen F Swimmer C Kopczynski C Duyk G Winberg ML Margolis J 《Nature genetics》2004,36(3):283-287
With the availability of complete genome sequence for Drosophila melanogaster, one of the next strategic goals for fly researchers is a complete gene knockout collection. The P-element transposon, the workhorse of D. melanogaster molecular genetics, has a pronounced nonrandom insertion spectrum. It has been estimated that 87% saturation of the approximately 13,500-gene complement of D. melanogaster might require generating and analyzing up to 150,000 insertions. We describe specific improvements to the lepidopteran transposon piggyBac and the P element that enabled us to tag and disrupt genes in D. melanogaster more efficiently. We generated over 29,000 inserts resulting in 53% gene saturation and a more diverse collection of phenotypically stronger insertional alleles. We found that piggyBac has distinct global and local gene-tagging behavior from that of P elements. Notably, piggyBac excisions from the germ line are nearly always precise, piggyBac does not share chromosomal hotspots associated with P and piggyBac is more effective at gene disruption because it lacks the P bias for insertion in 5' regulatory sequences. 相似文献