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Both gain-and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

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Journal of Genetics and Genomics 2024年第8期51卷 801-810页

作者： Wan-Bing Sun Jing-Xin Fu Yu-Lan Chen Hong-Fu Li Zhi-Ying Wu Dian-Fu Chen Department of Medical Genetics and center for rare Diseases and Department of Neurologyand Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation in Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Nanhu Brain-computer Interface Institute HangzhouZhejiang 314050China MOE frontier science center for Brain science and Brain-machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhouZhejiang 310012China

KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channelα*** variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia(PKD),but the correlation between them remains unclear due to the phenotypic complexity of KCNA1 variants as well as the rarity of PKD *** the whole exome sequencing followed by Sanger sequencing,we screen for potential pathogenic KCNA1 variants in patients clinically diagnosed with paroxysmal movement disorders and identify three previously unreported missense variants of KCNA1 in three unrelated Chinese *** proband of one family(c.496G>A,p.A166T)manifests as episodic ataxia type 1,and the other two(c.877G>A,p.V293I and c.1112C>A,p.T371A)manifest as *** pathogenicity of these variants is confirmed by functional studies,suggesting that p.A166T and p.T371A cause a loss-of-function of the channel,while p.V293I leads to a gain-of-function with the property of voltage-dependent gating and activation kinetic *** reviewing the locations of PKD-manifested KCNA1 variants in Kv1.1 protein,we find that these variants tend to cluster around the pore domain,which is similar to ***,our study strengthens the correlation between KCNA1 variants and PKD and provides more information on genotype–phenotype correlations of KCNA1 channelopathy.

关键词： Paroxysmal kinesigenic dyskinesia KCNA1 Loss-of-function Gain-of-function Channelopathy Episodicataxiatype1

Critical Opalescence and Its Impact on the Jet Quenching Parameter ■

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Chinese Physics Letters 2024年第3期41卷 28-34页

作者：武警曹杉杉李峰 School of Physical science and Technology Lanzhou University Institute of frontier and Interdisciplinary science Shandong University Research center for Hadron and CSR Physics Lanzhou University and Institute of Modern Physics of CAS Lanzhou center for Theoretical Physics Key Laboratory of Theoretical Physics of Gansu Provinceand Frontiers Science Center for Rare Isotopes Lanzhou University frontiers science center for rare isotopes Lanzhou University

Jet quenching parameter ■ is essential for characterizing the interaction strength between jet partons and nuclear matter. Based on the quark-meson model, we develop a new framework for calculating ■ at finite chemi...

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Chinese patients with adult onset leukodystrophy caused by CST3 variants

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Journal of Genetics and Genomics 2024年第7期51卷 778-780页

作者： Yi Zhang Zhi-Ying Wu Department of Medical Genetics and center for rare Diseases Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical TranslationSecond Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Nanhu Brain-computer Interface Institute HangzhouZhejiang 314050China Department of Neurology Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China MOE frontier science center for Brain science and Brain-machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhouZhejiang 310012China

Leukodystrophies represent a group of cerebral white matter disorders that mainly affect axon-glia *** disorders are clinically diverse and display significant genetic *** is challenging to differentiate hereditary leukodystrophies,particularly those that present in adulthood,from acquired leukodystrophies and other genetic disorders,such as multiple sclerosis(MS)or hereditary spastic paraplegia(HSP)(Wei et al.,2021).Over the past few decades,a series of causative genes associated with leukodystrophies have been identified(Kohler et al.,2018).Nevertheless,a significant proportion of patients still lack a precise molecular diagnosis.

关键词： al. patients Kohler

Cross section determination of^(27)Al(n,2n)^(26)Al reaction induced by 14-MeV neutrons uniting with D-T neutron activation and AMS techniques

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Nuclear science and Techniques 2024年第6期35卷 78-89页

作者： Xian-Lin Yang Chang-Lin Lan Yu-Ting Wei Yi Zhang Gong Jiang Bo Xie Yu Liu Hong-Tao Shen Xiao-Jun Sun School of Nuclear science and Technology Lanzhou UniversityLanzhou 730000China MOE frontiers science center for rare isotopes Lanzhou UniversityLanzhou 730000China State Key Laboratory of Environmental Geochemistry Institute of GeochemistryChinese Academy of SciencesGuiyang 550081China Guangxi Key Laboratory of Nuclear Physics and Nuclear Technology Guangxi Normal UniversityGuilin 541004China

Aluminum is the primary structural material in nuclear engineering,and its cross section induced by 14-MeV neutrons is of great *** address the issue of insufficient accuracy for the^(27)Al(n,2n)^(26)Al reaction cross section,the activation method and accelerator mass spectrometry(AMS)technique were used to determine the^(27)Al(n,2n)^(26)Al cross section,which could be used as a D-T plasma ion temperature monitor in fusion *** the China Academy of Engineering Physics,neutron activation was performed using a K-400 neutron generator produced by the T(d,n)4He ***^(26)Al∕^(27)Al isotope ratios were measured using the newly installed GYIG 1 MV AMS at the Institute of Geochemistry,Chinese Academy of *** neutron flux was monitored by measuring the activity of 92mNb produced by the 93Nb(n,2n)92mNb *** measured results were compared with available data in the experimental nuclear reaction database,and the measured values showed a reasonable degree of consistency with partially available literature *** newly acquired cross-sectional data at 12 neutron energy points through systematic measurements clarified the divergence,which has two different growth trends from the existing experimental *** obtained results are also compared with the corresponding evaluated database,and the newly calculated excitation functions with TALYS−1.95 and EMPIRE−3.2 codes,the agreement with CENDL−3.2,TENDL-2021 and EMPIRE−3.2 results are generally acceptable.A substantial improvement in the knowledge of the^(27)Al(n,2n)^(26)Al reaction excitation function was obtained in the present work,which will lay the foundation for the diagnosis of the fusion ion temperature,testing of the nuclear physics model,evaluation of nuclear data,etc.

关键词： 14-MeV neutron ^(27)Al(n,2n)^(26)Al Cross section AMS

Hydrographic Characteristics and Oceanic Heat Flux in the Upper Arctic Ocean over the Alpha Ridge Observed by the DTOP Platform in 2018 and 2021

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Journal of Ocean University of China 2024年第2期23卷 304-316页

作者： WANG Yongjun LI Tao College of Oceanic and Atmospheric sciences Ocean University of ChinaQingdao 266100China frontier science center for Deep Ocean Multispheres and Earth System(FDOMES) and Physical Oceanography Laboratory Ocean University of ChinaQingdao 266100China Laoshan Laboratory Qingdao 266237China

In 2018 and 2021,the Drift-Towing Ocean Profilers(DTOP)provided extensive temperature and salinity data on the upper 120m ocean through their drifts over the Alpha Ridge north of the Canada *** thickness and temperature maximum of Alaska Coastal Water(ACW)ranged from 20m to 40m and-1.5℃to-0.8℃,respectively,and the salinity generally maintained from 30.2 to *** with World Ocean Atlas 2018’s climatology manifested a 40m-thick and warm ACW roughly ex-ceeding the temperature maximum by 0.4–0.5℃in June–August *** anomalously warm ACW was highly related to the ex-pansion of the Beaufort Gyre in the negative Arctic Oscillation *** summer,the under-ice oceanic heat flux F_(w)^(OHF)was elevated,with a maximum value of above 25Wm^(-2).F_(w)^(OHF)was typically low in the freezing season,with an average value of 1.2Wm^(-2).The estimates of upward heat flux contributed by ACW to the sea ice bottom F_(w)^(OHF)were in the range of 3–4Wm^(-2)in June–August 2021,when ACW contained a heat content of more than 80MJm^(-2).The heat loss over this period was driven by a weak stratification upon the ACW layer associated with a surface mixed layer(SML)approaching the ACW *** autumn,F_(w)^(OHF)was reduced(rare events when it elevated F_(w)^(OHF)*** addition,the intensive and widespread Ekman suction,which created a violent upwelling north of the Canada Basin,was largely responsible for the substantial cooling and thinning of the ACW layer in the summer of 2021.

关键词： Arctic Ocean oceanic heat flux Alaska Coastal Water Alpha Ridge

探索Bi_(2)SeO_(5)的高介电性能:从块体到双层和单层

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science China Materials 2024年第3期67卷 906-913页

作者：董欣月何育彧管乐祝元昊吴金雄付会霞颜丙海 Tianjin Key Lab for rare Earth Materials and Applications Center for Rare Earth and Inorganic Functional MaterialsSmart Sensor Interdisciplinary Science CenterSchool of Materials Science and EngineeringNankai UniversityTianjin 300350China center of Quantum Materials and Devices College of PhysicsChongqing UniversityChongqing 401331China Chongqing Key Laboratory for Strongly Coupled Physics Chongqing UniversityChongqing 401331China Department of Condensed Matter Physics Weizmann Institute of ScienceRehovot 7610001Israel

Bi_(2)SeO_(5)是一种具有优异电绝缘性能的范德华(vdW)层状介电材料,引起了极大关注.然而,目前关于Bi_(2)SeO_(5)的研究主要停留在实验层面,仍然缺乏对其原子级薄膜的介电性能的相关理论认识.本文通过第一性原理计算确定了Bi_(2)SeO_(5... 详细信息

Bi_(2)SeO_(5)是一种具有优异电绝缘性能的范德华(vdW)层状介电材料,引起了极大关注.然而,目前关于Bi_(2)SeO_(5)的研究主要停留在实验层面,仍然缺乏对其原子级薄膜的介电性能的相关理论认识.本文通过第一性原理计算确定了Bi_(2)SeO_(5)的介电性能,发现其块体、双层和单层均具有超高平均介电常数(εr>20).研究表明,单层Bi_(2)SeO_(5)与双层Bi_(2)O_(2)Se之间的导带和价带能量偏移量均大于1 eV,表明单层Bi_(2)SeO_(5)依然可作为原子薄Bi_(2)O_(2)Se的良好介电层.此外,不同于h-BN或其他2D vdW绝缘体,Bi_(2)SeO_(5)的εr由其离子部分主导,且随着厚度的减小几乎保持不变.计算发现,单层Bi_(2)SeO_(5)的等效氧化层厚度可薄至0.3 n m,且单层Bi_(2)SeO_(5)在拉伸或压缩应变达到6%时均能保持高介电常数,这极大地促进了它与各种二维半导体的集成.本工作证明单层Bi_(2)SeO_(5)可以作为高性能二维电子器件良好的封装和介电层.

关键词： Bi_(2)SeO_(5) high-κ equivalent oxide thickness dielectric constant van der Waals first-principles calculations

Identifying extracerebellar characteristics in a large cohort of 319 Chinese patients with spinocerebellar ataxia type 3

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中华医学杂志(英文版) 2024年第17期137卷 2131-2133页

作者： Li Donghui Yu Jinyang Zhu Chenhao Du Yichu Ma Yin Dong Yi Wu Zhiying Department of Medical Genetics and center for rare Diseases and Department of Neurology in Second Affiliated Hospital and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation Zhejiang University School of Medicine Hangzhou Zhejiang China Nanhu Brain-Computer Interface Institute Hangzhou Zhejiang China Department of Neurology Changxing People’s Hospital Changxing Zhejiang China MOE frontier science center for Brain science and Brain-Machine Integration School of Brain Science and Brain Medicine Zhejiang University Hangzhou Zhejiang China

Revealing structure correlation between ionic liquid and metal-organic framework matrix

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Magnetic Resonance Letters 2024年第2期4卷 65-72页

作者： Ligang Xu Wenda Zhang Chenjie Lou Chenxu Geng Yuxiu Sun Jie Liu Yongchao Shi Huajie Luo Jipeng Fu Haiyan Zheng Mingxue Tang center for High Pressure science and Technology Advanced Research Beijing100193China College of Materials science and Engineering Guilin University of TechnologyGuilin541004China State Key Laboratory of Separation Membranes and Membrane Processes School of Material Science and EngineeringTiangong UniversityTianjin300387China University of science and Technology Beijing Beijing100083China Key Laboratory of rare Earth Optoelectronic Materials and Devices of Zhejiang Province Institute of Optoelectronic Materials and DevicesChina Jiliang UniversityHangzhou310018China

Solid-state batteries are rising rapidly in response to the fast-increasing energy ***-organic framework(MOF) loaded with ionic liquids has brought new opportunities for solid-state batteries owing to its good interfacial compatibility and high ionic conductivity. MOF-808 is selected to be filled with Li-contained ionic liquid for structure and ion dynamics investigation using nuclear magnetic resonance(NMR) and X-ray *** study finds that the introduced ionic liquid would partially soften the matrix of MOF-808 and thus yield amorphous phase. By selective isotope replacement under cycling symmetric ^(6)Li metal cell, Li^(+)ion is observed to mainly go cross ionic liquid in the open channel of matrix under potential polarization.

关键词： Nuclear magnetic resonance Solid-state batteries MOF-808 Ionic liquid Local structure

Direct measurement of the break-out ^(19)F(p,γ)^(20)Ne reaction in the China Jinping underground laboratory(CJPL)

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Nuclear science and Techniques 2024年第8期35卷 142-152页

作者： Yin‑Ji Chen Hao Zhang Li‑Yong Zhang Jian‑Jun He Richard James deBoer Michael Wiescher Alexander Heger David Kahl Jun Su Daniel Odell Xin‑Yue Li Jian‑Guo Wang Long Zhang Fu‑Qiang Cao Zhi‑Cheng Zhang Xin‑Zhi Jiang Luo‑Huan Wang Zi‑Ming Li Lu‑Yang Song Liang‑Ting Sun Qi Wu Jia‑Qing Li Bao‑Qun Cui Li‑Hua Chen Rui‑Gang Ma Er‑Tao Li Gang Lian Yao‑De Sheng Zhi‑Hong Li Bing Guo Wei‑Ping Liu Key Laboratory of Beam Technology of the Ministry of Education College of Nuclear Science and TechnologyBeijing Normal UniversityBeijing 100875China Department of Physics and Astronomy The Joint Institute for Nuclear AstrophysicsUniversity of Notre DameNotre DameIN 46556USA School of Physics and Astronomy Monash UniversityClaytonVIC 3800Australia Facility for rare isotope Beams Michigan State UniversityEast LansingMI 48824USA Institute of Nuclear and Particle Physics and Department of Physics and Astronomy Ohio UniversityAthensOH 45701USA Institute of Modern Physics Chinese Academy of SciencesLanzhou 730000China China Institute of Atomic Energy Beijing 102413China College of Physics and Optoelectronic Engineering Shenzhen UniversityShenzhen 518060China School of Nuclear science and Technology University of Chinese Academy of SciencesBeijing 100049China College of science Southern University of Science and TechnologyShenzhen 518055China Institute of Radiation Technology Beijing Academy of Science and TechnologyBeijing 100875China Key Laboratory of Nuclear Physics and Ion‑Beam Application(MOE) Institute of Modern PhysicsFudan UniversityShanghai 200433China School of Mathematics and Physics Handan UniversityHandan 056005China

Calcium production and the stellar evolution of first-generation stars remain fascinating mysteries in *** one possible nucleosynthesis scenario,break-out from the hot carbon–nitrogen–oxygen(HCNO)cycle was thought to be the source of the calcium observed in these oldest ***,according to the stellar modeling,a nearly tenfold increase in the thermonuclear rate ratio of the break-out ^(19)F(p,γ)^(20) Ne reaction with respect to the competing ^(19)F(p,α)^(16) O back-processing reaction is required to reproduce the observed calcium *** performed a direct measurement of this break-out reaction at the China Jinping underground *** measurement was performed down to the low-energy limit of E_(c.m.)=186 keV in the center-of-mass *** key resonance was observed at 225.2 keV for the first *** a temperature of approximately 0.1 GK,this new resonance enhanced the thermonuclear ^(19)F(p,γ)^(20) Ne rate by up to a factor of≈7.4,compared with the previously recommended NACRE *** is of particular interest to the study of the evolution of the first stars and implies a stronger breakdown in their“warm”CNO cycle through the ^(19)F(p,γ)^(20) Ne reaction than previously *** break-out resulted in the production of the calcium observed in the oldest stars,enhancing our understanding of the evolution of the first stars.

关键词： Nuclear astrophysics First stars Abundance of calcium Reaction cross section Reaction rate China Jinping underground laboratory(CJPL) JUNA