COL1A1突变致Van der Hoeve综合征家系的遗传和表型分析并文献复习

目的对一个常染色体显性遗传的Van der Hoeve综合征家系进行详尽的临床表型分析及基因突变检测,明确该家系的致病基因突变位点及该突变对基因编码的影响。方法对收集到的Van der Hoeve综合征家系进行包括病史、体格检查及辅助检查在内的临床资料的收集及外周血液样本的采集,并对22位家系成员进行外显子组测序以及Sanger测序,利用生物信息学软件分析数据。结果该家系共五代,各代连续发病,且每一代男女均可患病,符合常染色体显性遗传特点。该家系中12例患者均自出生时巩膜即呈蓝色且身材矮小,8例患者有骨折病史,可正常愈合,3例患者考虑有Van der Hoeve综合征所致的听力下降,12例患者的COL1A1基因第17号外显子有一个碱基的缺失(c.1128delT),使第376位后的氨基酸编码改变,在第539位提前结束氨基酸编码,该家系中10例无症状者无此突变。结论该家系患者确定为由COL1A1基因c.1128delT突变导致的Van der Hoeve综合征。

ZnSb/Ti_(3)C_(2)T_(x)MXene van der Waals heterojunction for flexible near-infrared photodetector arrays

Two-dimension(2D)van der Waals heterojunction holds essential promise in achieving high-performance flexible near-infrared(NIR)photodetector.Here,we report the successful fabrication of ZnSb/Ti_(3)C_(2)T_(x)MXene based flexible NIR photodetector array via a facile photolithography technology.The single ZnSb/Ti_(3)C_(2)T_(x)photodetector exhibited a high light-to-dark current ratio of 4.98,fast response/recovery time(2.5/1.3 s)and excellent stability due to the tight connection between 2D ZnSb nanoplates and 2D Ti_(3)C_(2)T_(x)MXene nanoflakes,and the formed 2D van der Waals heterojunction.Thin polyethylene terephthalate(PET)substrate enables the ZnSb/Ti_(3)C_(2)T_(x)photodetector withstand bending such that stable photoelectrical properties with non-obvious change were maintained over 5000 bending cycles.Moreover,the ZnSb/Ti_(3)C_(2)T_(x)photodetectors were integrated into a 26×5 device array,realizing a NIR image sensing application.

Optoelectronic Synapses Based on MXene/Violet Phosphorus van der Waals Heterojunctions for Visual‑Olfactory Crossmodal Perception

The crossmodal interaction of different senses,which is an important basis for learning and memory in the human brain,is highly desired to be mimicked at the device level for developing neuromorphic crossmodal perception,but related researches are scarce.Here,we demonstrate an optoelectronic synapse for vision-olfactory crossmodal perception based on MXene/violet phosphorus(VP)van der Waals heterojunctions.Benefiting from the efficient separation and transport of photogenerated carriers facilitated by conductive MXene,the photoelectric responsivity of VP is dramatically enhanced by 7 orders of magnitude,reaching up to 7.7 A W^(−1).Excited by ultraviolet light,multiple synaptic functions,including excitatory postsynaptic currents,pairedpulse facilitation,short/long-term plasticity and“learning-experience”behavior,were demonstrated with a low power consumption.Furthermore,the proposed optoelectronic synapse exhibits distinct synaptic behaviors in different gas environments,enabling it to simulate the interaction of visual and olfactory information for crossmodal perception.This work demonstrates the great potential of VP in optoelectronics and provides a promising platform for applications such as virtual reality and neurorobotics.

High-Quality van der Waals Epitaxial CsPbBr_(3)Film Grown on Monolayer Graphene Covered TiO_(2)for High-Performance Solar Cells

Two-dimensional materials have been widely used to tune the growth and energy-level alignment of perovskites.However,their incomplete passivation and chaotic usage amounts are not conducive to the preparation of highquality perovskite films.Herein,we succeeded in obtaining higher-quality CsPbBr_(3)films by introducing large-area monolayer graphene as a stable physical overlay on top of TiO_(2)substrates.Benefiting from the inert and atomic smooth graphene surface,the CsPbBr_(3)film grown on top by the van der Waal epitaxy has higher crystallinity,improved(100)orientation,and an average domain size of up to 1.22μm.Meanwhile,a strong downward band bending is observed at the graphene/perovskite interface,improving the electron extraction to the electron transport layers(ETL).As a result,perovskite film grown on graphene has lower photoluminescence(PL)intensity,shorter carrier lifetime,and fewer defects.Finally,a photovoltaic device based on epitaxy CsPbBr_(3)film is fabricated,exhibiting power conversion efficiency(PCE)of up to 10.64%and stability over 2000 h in the air.

Mass-spring model for elastic wave propagation in multilayered van der Waals metamaterials

Multilayered van der Waals(vdW)materials have attracted increasing interest because of the manipulability of their superior optical,electrical,thermal,and mechanical properties.A mass-spring model(MSM)for elastic wave propagation in multilayered vdW metamaterials is reported in this paper.Molecular dynamics(MD)simulations are adopted to simulate the propagation of elastic waves in multilayered vdW metamaterials.The results show that the graphene/MoS_(2)metamaterials have an elastic wave bandgap in the terahertz range.The MSM for the multilayered vdW metamaterials is proposed,and the numerical simulation results show that this model can well describe the dispersion and transmission characteristics of the multilayered vdW metamaterials.The MSM can predict elastic wave transmission characteristics in multilayered vdW metamaterials stacked with different two-dimensional(2D)materials.The results presented in this paper offer theoretical help for the vibration reduction of multilayered vdW semiconductors.

Low-Cost and Biodegradable Thermoelectric Devices Based on van der Waals Semiconductors on Paper Substrates

We present a method to fabricate handcrafted thermoelectric devices on standard office paper substrates.The devices are based on thin films of WS_(2),Te,and BP(P-type semiconductors)and TiS_(3)and TiS_(2)(N-type semiconductors),deposited by simply rubbing powder of these materials against paper.The thermoelectric properties of these semiconducting films revealed maximum Seebeck coefficients of(+1.32±0.27)mV K^(-1)and(-0.82±0.15)mV K^(-1)for WS_(2)and TiS_(3),respectively.Additionally,Peltier elements were fabricated by interconnecting the P-and N-type films with graphite electrodes.A thermopower value up to 6.11 mV K^(-1)was obtained when the Peltier element were constructed with three junctions.The findings of this work show proof-of-concept devices to illustrate the potential application of semiconducting van der Waals materials in future thermoelectric power generation as well as temperature sensing for low-cost disposable electronic devices.

Rational design of vitamin C/defective carbon van der Waals heterostructure for enhanced activity,durability and storage stability toward oxygen reduction reaction

Metal-free defective carbon materials with abundant active sites have been widely studied as low-cost and efficient oxygen reduction reaction(ORR)electrocatalysts in metal-air batteries.However,the active sites in defective carbon are easily subjected to serious oxidation or hydroxylation during ORR or storage,leading to rapid degradation of activity.Herein,we design a van der Waals heterostructure comprised of vitamin C(VC)and defective carbon(DC)to not only boost the activity but also enhance the durability and storage stability of the DC-VC electrocatalyst.The formation of VC van der Waals between DC and VC is demonstrated to be an effective strategy to protect the defect active sites from oxidation and hydroxylation degradation,thus significantly enhancing the electrochemical durability and storage anti-aging performance.Moreover,the DC-VC van der Waals can reduce the reaction energy barrier to facilitate the ORR.These findings are also confirmed by operando Fourier transform infrared spectroscopy and density functional theory calculations.It is necessary to mention that the preparation of this DC-VC electrocatalyst can be scaled up,and the ORR performance of the largely produced electrocatalyst is demonstrated to be very consistent.Furthermore,the DC-VC-based aluminum-air batteries display very competitive power density with good performance maintenance.

Phonon resonance modulation in weak van der Waals heterostructures:Controlling thermal transport in graphene-silicon nanoparticle systems

The drive for efficient thermal management has intensified with the miniaturization of electronic devices.This study explores the modulation of phonon transport within graphene by introducing silicon nanoparticles influenced by van der Waals forces.Our approach involves the application of non-equilibrium molecular dynamics to assess thermal conductivity while varying the interaction strength,leading to a noteworthy reduction in thermal conductivity.Furthermore,we observe a distinct attenuation in length-dependent behavior within the graphene-nanoparticles system.Our exploration combines wave packet simulations with phonon transmission calculations,aligning with a comprehensive analysis of the phonon transport regime to unveil the underlying physical mechanisms at play.Lastly,we conduct transient molecular dynamics simulations to investigate interfacial thermal conductance between the nanoparticles and the graphene,revealing an enhanced thermal boundary conductance.This research not only contributes to our understanding of phonon transport but also opens a new degree of freedom for utilizing van der Waals nanoparticle-induced resonance,offering promising avenues for the modulation of thermal properties in advanced materials and enhancing their performance in various technological applications.

基于Van Der Pauw原理的溶液电导率计

为实现对于电导率的准确测量,研究Van Der Pauw原理及其应用于电导率绝对测量的理论依据,设计径轴二维可调的四电极结构.分析电极的对称性、电导池的封闭性对测量结果的影响,实验结果证明对称性好、结构封闭的Van Der Pauw法电导率计,对溶液电导率具有较高的测量精度,并能够实现绝对测量.基于Van Der Pauw法的电导池常数κ仅与电极长度有关的原则,设计几种不同电极长度的电极,开展多种不同电导率溶液的测量实验,得出不同电导池常数κ的最佳测量范围.运用电导池常数为0.1cm-1的电极,对电导率为20~500μS/cm内的多个实际水样进行测量,相对误差小于1.0%.结果表明该新型电导率测量方法具有很好的应用前景和推广价值.

简谐与随机噪声联合激励下Van der Pol-Duffing系统的响应

研究了 Van der Pol-Duffing振子在简谐与随机噪声联合激励下的响应问题。用参数变换法使方程出现小参数 ,用多尺度法分离系统的快变项 ,讨论系统的阻尼项、非线性项和随机项等参数对系统响应的影响。理论分析和数值模拟表明 ,当随机激励强度增大时 ,系统的响应可从一个极限环变为一个扩散的极限环 ;在一定的条件下 ,系统可有两个稳定的稳态解及随机跳跃现象。

Van der Pol振荡器的模拟仿真

利用运算放大器和乘法器进行电路设计,对早期利用电子管实现的Van der Pol振荡器利用现代集成电路加以实现。文中还利用OrCAD PSpice对设计的电路进行了模拟,得到了Van der Pol振荡器输出信号的波形图,并利用文本文件作为OrCAD PSpice和Matlab之间的接口,将OrCAD PSpice仿真得到的波形在Matlab中进行处理,得到Van der Pol振荡器两个状态变量的相图,并以此说明了Van der Pol振荡器所具有的丰富的非线性动力学特性。

耦合Van der Pol-Duffing振子的动力学分析

非线性耦合VanderPol -Duffing振子在强共振情形下具有极其复杂的动力学行为 ,本文利用数值方法研究了各系统参数对振子系统动力学性态的影响 ,揭示了减幅、增幅、周期。

宽带噪声激励下含分数阶导数的van der Pol-Duffing振子的可靠性

为了研究宽带噪声激励下含分数阶导数的van der Pol-Duffing振子的首次穿越问题,首先应用广义谐波平衡技术,将分数阶导数表示的回复力分解为等效拟线性阻尼力和拟线性回复力,获得不含分数阶导数的等效非线性随机系统;然后,应用随机平均法将等效非线性随机系统近似为一维扩散过程,再建立和求解相应的后向Kolmogorov方程,获得系统的条件可靠性函数和平均首次穿越时间计算式;最后,通过实验结果表明,所提方法与蒙特卡罗法模拟结果吻合得非常好;系统的可靠性随分数阶数的增加而提高;分数阶导数表示的回复力不能简单地当作一类特殊的阻尼力.

Van der Hoeve综合征家系临床表型特征及COL1A1基因突变分析

目的对一个常染色体显性遗传的Van der Hoeve综合征家系进行详尽的临床表型分析及可能的致病基因COL1A1突变检测,探讨该家系基因型及表型的关系。方法对收集到的Van der Hoeve综合征家系进行病史及血液样本采集,并对家庭主要成员进行COL1A1基因全部外显子DNA序列分析,利用Gene Tool软件及分子生物学网站的信息分析检测数据。结果该家系先证者及其母亲COL1A1基因第40号外显子有两个碱基的缺失(c.2910_2911delAG),导致COL1A1编码的蛋白质的翻译合成在第980位氨基酸提前终止。先证者父亲无此突变。结论该家系先证者及其母亲确定为由c.2910_2911delAG突变导致的Van der Hoeve综合征。与COL1A1基因突变数据库比对,该突变位点未曾报道过。

具有时滞耦合的n个van der Pol振子弱共振双Hopf分岔

研究了具有时滞耦合的n个van der Pol振子系统中发生的弱共振双Hopf分岔.应用改进的多尺度方法,得到了2∶5共振的复振幅方程.通过将复振幅设为极坐标形式,将复振幅方程转化为一个二维的实振幅系统.通过研究实振幅方程的平衡点及其稳定性,对系统在2∶5共振点附近的动力学行为进行了开折和分类.得到了一些有趣的动力学现象,如振幅死区、周期解和双稳态解等,相应的数值模拟验证了理论结果的正确性.

对Van Der Corput不等式的加强

有别于研究Van Der Corput不等式的传统方法,利用作者已经证明的最值单调定理,得出了该不等式的又一个新的加强式.它不仅强于现有的许多结果,而且形式美观;同时表明最值单调定理在不等式研究中具有重要的作用。

利用Van der Pol方程分析MOS LC差分振荡器

回顾了对MOS LC差分振荡器的认识现状。通过简单的推导和Van der Pol方程现有结论,得到了交叉耦合MOS特性对振荡器性能的影响。这些结论包括:1)起振条件;2)输出幅度与参数间的解析表达式;3)振荡器输出频率与LC谐振回路和交叉耦合MOS管非线性特性影响的关系;4)过渡过程的时间常数;5)振荡器输出的谐波特性。这些结论揭示了MOS LC差分振荡器新的现象,对设计者了解振荡器的工作状态和优化设计有一定的参考意义。

联合Duffing方程和Van der Pol方程的非线性分数阶微分方程(英文)

本文研究了Adomian分解方法在非线性分数阶微分方程求解中的应用. 利用Riemann-Liouville分数阶导数和Adomian分解方法, 将Duffing方程和Van der Pol方程联合在一个分数阶方程中,并获得了此方程的解析近似解.

含外激励van der Pol-Mathieu方程的非线性动力学特性分析

本文针对含有自激励,参数激励和外激励等三种激励联合作用下van der Pol-Mathieu方程的周期响应和准周期运动进行分析,发现其准周期运动的频谱中含有均匀边频带这一新的特性.首先,采用传统的增量谐波平衡法(IHB法)分析了van der Pol-Mathieu方程的周期响应,得到了其非线性频率响应曲线;再利用Floquet理论对周期解进行稳定性分析,得到了两种类型的分岔及它们的位置.然后,基于van der Pol-Mathieu方程准周期运动的频谱中边频带相邻频率之间是等距的且含有两个不可约的基频的特性(其中一个基频是已知的,另一个基频事先是未知的),推导了相应的两时间尺度IHB法,精确计算出van der Pol-Mathieu方程的准周期运动的另一个未知基频和所有的频率成份及其对应的幅值,尤其在临界点附近处的准周期运动响应.得到的准周期运动结果和利用四阶龙格-库塔(RK)数值法得到的结果高度吻合.最后,研究发现了含外激励van der Pol-Mathieu方程在不同激励频率时的一些丰富而有趣的非线性动力学现象.

1个河南van Der Woude综合征家系IRF6基因的突变检测

目的:对1个河南省vanDerWoude综合征(VWS)家系进行IRF6基因的突变检测。方法:在IRF6(interferonregulatoryfactor6)基因内设计引物,经分段PCR(聚合酶链反应)和DNA测序,进行突变检测,运用PIX-ProteinIdentification软件对检测结果进行蛋白二级结构分析。结果:在该家系所有患者IRF6基因的第6密码子,均发现与表型一致的CGC>TGC(r.279c→t)突变,该突变引起IRF6蛋白二级预测结构的改变。结论:vanDerWoude综合征由IRF6基因突变引起,IRF6基因与唇、腭、牙的发育密切相关。