Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected individuals presented with early-onset osteoarthritis. We mapped the genetic locus to chromosome 15q22.2-24.2 and show that the disease is caused by mutations in SMAD3. This gene encodes a member of the TGF-β pathway that is essential for TGF-β signal transmission. SMAD3 mutations lead to increased aortic expression of several key players in the TGF-β pathway, including SMAD3. Molecular diagnosis will allow early and reliable identification of cases and relatives at risk for major cardiovascular complications. Our findings endorse the TGF-β pathway as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis.     

Fluctuation and response in biology

In 1905, Albert Einstein proposed that the forces that cause the random Brownian motion of a particle also underlie the resistance to macroscopic motion when a force is applied. This insight, of a coupling between fluctuation (stochastic behavior) and responsiveness (non-stochastic behavior), founded an important branch of physics. Here we argue that his insight may also be relevant for understanding evolved biological systems, and we present a ‘fluctuation–response relationship’ for biology. The relationship is consistent with the idea that biological systems are similarly canalized to stochastic, environmental, and genetic perturbations. It is also supported by in silico evolution experiments, and by the observation that ‘noisy’ gene expression is often both more responsive and more ‘evolvable’. More generally, we argue that in biology there is (and always has been) an important role for macroscopic theory that considers the general behavior of systems without concern for their intimate molecular details.     

超支化聚三唑固态聚电解质及其锂离子和锌离子导电性

带刚性结构的超支化聚合物具有优良的溶解性，度低黏与力学性能优异，可用于制备固态电解质.含叠氮基的单体M1和含炔基的单体M2在亚铜离子Cu⁺的催化下发生叠氮-炔点击化学反应，得到超支化聚三唑hb-GPTA.该聚合物具有良好的溶解性、成膜性和热稳定性（热分解温度为350 ℃）.将该聚合物分别与三氟甲基磺酰亚胺锂 (LiTFSI)及三氟甲基磺酸锌 (Zn(OTf)₂)进行掺杂，制备固态电解质，对其电化学性能进行表征.结果表明，hb-GPTA/LiTFSI体系具有更高的电导率（32.7 μ S·cm^-1），电化学窗口为5.2 V；相比之下，hb-GPTA/Zn（OTf）₂体系电导率较低（0.42 μS·cm^-1），但其在-1~6 V电压范围内一直保持稳定.结合电化学稳定性分析结果，可以推断含三氮唑的聚合物在制作锌离子电池方面具有潜在的应用价值.     

本氏烟β-1,3-半乳糖苷转移酶基因鉴定、进化及表达分析

β-1,3-半乳糖苷转移酶(beta-1,3-galactosyltransferase,β-1,3-GalT)是植物中特有的酶,作为蛋白质糖基化修饰通路中的重要酶,它可以催化β-1,3键将半乳糖苷转移至糖核心.本研究将本氏烟(Nicotiana benthamiana)作为材料,对其基因组中β-1,3-GalT同源基因进行了系统的鉴定,共得到12个基因.这些基因编码的蛋白序列均包含保守结构域PF00337和PF01762.将本氏烟12个β-1,3-GalT基因与栽培烟草(Nicotiana tabacum)、番茄(Solanum lycopersicum)和拟南芥(Arabidopsis thaliana)中的β-1,3-GalT基因进行聚类分析,表明它们分化为2个主要枝(I和II),每个主要枝又进一步分化为2个亚枝.多数基因在根中表达量均较高,然而仅有6个基因在叶片中高表达.采用qRT-PCR,测定在叶片中高表达的6个β-1,3-GalT基因在农杆菌侵染情形下的表达水平,结果表明处于II枝上的基因表达均受到农杆菌侵染的显著诱导,而处于I枝上的基因无论对农杆菌侵染还是对照重悬液的注射,均表现一定程度的表达量的升高,暗示创伤胁迫可能使相应的基因表达升高,从而促进β-1,3-GalT酶进行糖基化修饰反应.     

几种特种加工方法的原理及应用

我国目前应用较多的特种加工有电火花加工、电解加工、电解磨削等；而超声波加工，激光加工，电子来加工等应用得还不普遍。主要对超声波加工，激光加工，电子来加工的基本原理、工艺特点和应用家例作一概念。     

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.     

鄱阳湖产银鱼生长的研究

记述了鄱阳湖产3种银鱼的完整世代的个体体长、体重增长情况.通过对生长指标的分析,将每种鱼的生长划分为若干阶段.太湖短吻银鱼(Neosa-lanx tankahkeii taihuensis)生长较快的阶段在3—7月和9—12月;乔氏短吻银鱼(Neosalanx jordani)生长较快的阶段在3—5月、9—10月和翌年3—5月;雷氏银鱼(Reganisalanx brachyrostralis)生长较快的阶段在2—8月和10—11月.此外,由最小二乘线性回归法,求得3种银鱼体长(体高)与体重的关系:太湖短吻银鱼W=3.12290×10~(-4)·l~(3·65443),或W=1.82594×10~(-2)·l~(2·23828)·h~(0·847895);乔氏短吻银鱼W=4.54854×10~(-3)·l~(2·94307);雷氏银鱼W=6.62807×10~(-4)·l~(3·24125).根据对银鱼个体生长的研究,认为在鄱阳湖南部捕捞银鱼的时间应在11月15日至12月31日,其他水域捕捞银鱼应在11月1日至12月31日.     

甜菜上一种球状病毒分离物的特性研究

由田间自然感病和甜菜黑色焦枯病株，坏死黄脉型病株及无明显症 甜菜上分离到一种球状病毒，病毒呈二十面体，直径约25nm，有空心和实心2种粒子，具有分子量为24．7kd的外壳蛋白和长度分别为3．8kb,1.4kb,1.1kb的3个双链RNA组分，该病毒具有较强的稳定性和侵染性，蚜虫不能传毒，土壤诱发可传播，易通过汁液摩擦接种侵染多种植物；但回接甜菜只偶尔出现个别褪绿斑或不规则褪绿斑，并不表现田间症状，表明该病毒与甜菜黑色焦枯病等病害无直接关系。     

Value disputes in urban ecological restoration: Lessons from the Chicago Wilderness

As a practice to facilitate the recovery of degraded ecosystems, ecological restoration is an inherently value-laden endeavor. Urban ecological restoration further underlines the complexity of value-ladenness involved by situating restoration in politically, ethically, epistemically, and otherwise normatively heterogenous social contexts. One such context that is particularly rich in opportunities for both significant restoration projects and social disputes about the value of such projects is the Chicago Wilderness, a region comprised of a variety of ecosystems on public and private lands across Wisconsin, Illinois, Indiana, and Michigan. Here I offer a close reading of value disputes in the Chicago Wilderness among ecologists, practitioners, policymakers, activists, and journalists over the aims, methods, and constitutive activities of urban ecological restoration.