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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141,DDHD2,and LHFPL5

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Frontiers of Medicine 2024年第1期18卷 81-97页

作者： Liwei sun Xueting Yang Amjad Khan Xue Yu Han Zhang Shirui Han Xiaerbati Habulieti Yang sun Rongrong Wang Xue Zhang McKusick-Zhang center for Genetic Medicine State Key Laboratory for Complex Severe and Rare DiseasesInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing100005China chongqing Key Laboratory of Human Embryo Engineering Center for Reproductive MedicineNational Key Clinical Speciality Construction Project(Obstetrics and Gynecology)Chongqing Health Center for Women and ChildrenChongqing400013China chongqing clinical Research center for Reproductive Medicine Women and Children’s Hospital of Chongqing Medical UniversityChongqing400013China Faculty of Biological Sciences Department of ZoologyUniversity of Lakki MarwatKhyber Pakhtunkhwa28420Pakistan Institute for Medical Genetics and Applied Genomics University of TübingenTübingen72076Germany Alexander von Humboldt fellowship Foundation Berlin10117Germany Department of Pediatrics The First Affiliated Hospital of Guangxi Medical UniversityNanning530000China Department of Laboratory Medicine State Key Laboratory for Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing100730China

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and *** variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic ***,a Pakistani family with parental consanguinity was presented,characterized with severe intellectual disability(ID),spastic paraplegia,and *** mapping,integrated single nucleotide polymorphism(SNP)array,whole-exome sequencing,and whole-genome sequencing were performed,and homozygous variants in TMEM141(c.270G>A,***90^(*)),DDHD2(c.411+767_c.1249-327del),and LHFPL5(c.250delc,***84^(*))were identified.A Tmem141^(***90^(*)/***90^(*))mouse model was *** studies showed impairments in learning ability and motor *** slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje *** electron microscopy showed abnormal mitochondrial ***,studies on a human in vitro neuronal model(SH-SY5Y cells)with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function,possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse ***,panoramic variation analysis revealed that multilocus genomic variations of TMEM141,DDHD2,and LHFPL5 together caused variable phenotypes in ***,the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141

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KHK-A promotes fructose-dependent colorectal cancer liver metastasis by facilitating the phosphorylation and translocation of PKM2

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Acta Pharmaceutica Sinica B 2024年第7期14卷 2959-2976页

作者： chaofan Peng Peng Yang Dongsheng Zhang chi jin Wen Peng Tuo Wang Qingyang sun Zhihao chen Yifei Feng Yueming sun Department of General Surgery the First Affiliated Hospital of Nanjing Medical UniversityNanjing 210029China colorectal Institute of Nanjing Medical University Nanjing 210029China The First School of clinical Medicine Nanjing Medical UniversityNanjing 210029China jiangsu Province Engineering Research center of colorectal cancer Precision Medicine and Translational Medicine Nanjing 210029China

Excessive fructose diet is closely associated with colorectal cancer(cRc)***,fructose’s specific function and precise mechanism in colorectal cancer liver metastasis(cRLM)is rarely ***,this study reported that the fructose absorbed by primary colorectal cancer could accelerate cRLM,and the expression of KHK-A,not KHK-c,in liver metastasis was higher than in paired primary ***,KHK-A facilitated fructose-dependent cRLM in vitro and in vivo by phosphorylating PKM2 at ***2 phosphorylated by KHK-A inhibited its tetramer formation and pyruvic acid kinase activity but promoted the nuclear accumulation of *** and aerobic glycolysis activated by nuclear PKM2 enhance cRc cells’migration ability and anoikis resistance during cRLM ***-46 treatment,targeting the phosphorylation of PKM2,inhibited the pro-metastatic effect of ***,c-myc activated by nuclear PKM2 promotes alternative splicing of KHK-A,forming a positive feedback loop.

关键词： cRc cRLM Fructose KHK-A PKM2

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Surface-derived phosphate layer on NiFe-layered double hydroxide realizes stable seawater oxidation at the current density of 1 A·cm^(−2)

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Nano Research 2024年第7期17卷 5786-5794页

作者： chaoxin Yang Zhengwei cai jie Liang Kai Dong Zixiao Li Hang sun Shengjun sun Dongdong Zheng Hui Zhang Yongsong Luo Yongchao Yao Yan Wang Yuchun Ren Qian Liu Luming Li Wei chu Xuping sun Bo Tang college of chemistry Chemical Engineering and Materials ScienceShandong Normal UniversityJinan 250014China Institute of Fundamental and Frontier Sciences University of Electronic Science and Technology of ChinaChengdu 610054China Department of Science and Environmental Studies Faculty of Liberal Arts and Social Sciencethe Education University of Hong KongHong Kong 999077China Institute for Advanced Study Chengdu UniversityChengdu 610106China Laoshan Laboratory Qingdao 266237China

Seawater electrolysis,especially in coastlines,is widely considered as a sustainable way of making clean and high-purity H2 from renewable energy;however,the practical viability is challenged severely by the limited anode durability resulting from side reactions of chlorine ***,we report an effective cl^(−) blocking barrier of NiFe-layer double hydroxide(NiFe-LDH)to harmful chlorine chemistry during alkaline seawater oxidation(ASO),a pre-formed surface-derived NiFe-phosphate(Pi)***,the PO_(4)^(3−)-enriched outer-layer is capable of physically and electrostatically inhibiting cl−adsorption,which protects active Ni^(3+)sites during *** NiFe-LDH with the NiFe-Pi outer-layer(NiFe-LDH@NiFe-Pi)exhibits higher current densities(j)and lower overpotentials to afford 1 A·cm^(−2)(η1000 of 370 mV versusη1000 of 420 mV)than the NiFe-LDH in 1 M KOH+***,the NiFe-LDH@NiFe-Pi also demonstrates longer-term electrochemical durability than NiFe-LDH,attaining 100-h duration at the j of 1 A·cm^(−2).Additionally,the importance of surface-derived PO_(4)^(3−)-enriched outer-layer in protecting the active centers,γ-NiOOH,is explained by ex situ characterizations and in situ electrochemical spectroscopic studies.

关键词： seawater oxidation phosphate outer-layer layered double hydroxide electrostatic repulsion in situ Raman

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Helicobacter pylori mediated niche environment aberrations promote the progression of gastric cancer

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Genes & Diseases 2024年第5期11卷 113-116页

作者： Teng Yan Hang sun Yuhui Liao jiajian Zhou Nanfang Hospital The First School of Clinical MedicineSouthern Medical UniversityGuangzhouGuangdong 510515China Dermatology Hospital Southern Medical UniversityGuangzhouGuangdong 510091China

Intestinal metaplasia(IM)is a key stage in the tumorigenic correa cascade from gastritis to final intestinal-type gastric cancer(Gc).1 Helicobacter pylori(***)infection is the most common trigger of IM,and it promotes Gc progression through induction of gastric epithelial transition.2 currently,the mechanism by which *** infection promotes tumorigenesis in IM patients is poorly *** et *** a single-cell transcriptomic atlas on premalignant lesions and identified biomarkers of gastric early-malignant cells,providing an opportunity to explore the molecular mechanism of Gc progression at the molecular level.

关键词： gastric pylori Helicobacter

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Heterostructure of 2D MoSe_(2) nanosheets vertically grown on bowllike carbon for high-performance sodium storage

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Nano Research 2024年第5期17卷 4023-4030页

作者： Nianxiang Shi Guangzeng Liu Baojuan Xi Xuguang An changhui sun Shenglin Xiong School of chemistry and chemistry Engineering Qilu Normal UniversityJinan 250200China School of chemistry and chemical Engineering Shandong UniversityJinan 250100China School of Mechanical Engineering Chengdu UniversityChengdu 610106China

Transition metal dichalcogenides are attractive anode materials for sodium ion batteries(SIBs)due to their high theoretical capacity and large interlayer ***,its practical application is hampered by the sluggish kinetics of Na^(+)insertion and structure collapse caused by Na^(+)insertion/***,the heterostructures of MoSe_(2) nanosheets vertically growing on bowl-like carbon(MoSe_(2)@c)are designed and prepared by a template method coupled with selenization treatment to boost storage sodium *** hollow and collapse could provide enough storage space for Na^(+)and alleviate the volume expansion during the charge/discharge ***_(2) nanosheets vertically grown on carbon could expose more active sites for adsorbing Na^(+)to enhance the utilization rate of electrode ***,building heterostructures by combining different phase components could facilitate Na^(+)diffusion and advance reaction *** from these merits,the bowl-like MoSe_(2)@c shows outstanding reversible capacity(356.8 mAh·g^(-1) after 1500 cycles at 1 A·g^(-1))and remarkable rate performance(249.9 mAh·g^(-1)10 A·g^(-1)).

关键词： MoSe_(2)nanosheets bowl-like carbon heterostructure sodium ion batteries

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Impact of co^(2+)substitution on structure and magnetic properties of M-type strontium ferrite with different Fe/Sr ratios

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chinese Physics B 2024年第10期33卷 427-433页

作者： Yang sun Ruoshui Liu Huayang Gong Baogen Shen School of Rare Earths University of Science and Technology of ChinaHefei 230026China Ganjiang Innovation Academy Chinese Academy of SciencesGanzhou 341119China Ningbo Institute of Materials Technology&Engineering Chinese Academy of SciencesNingbo 315201China Beijing National Laboratory for condensed Matter Physics Institute of PhysicsChinese Academy of SciencesBeijing 100190China

Ion substitution has significantly improved the performance of ferrite magnets,and cobalt remains a key area of *** on the mechanism of co^(2+)in strontium ferrite,especially SrFe_(2n-x)co_(x)O_(19-d)(n=6.1-5.4;x=0.05-0.20)synthesized using the ceramic method,showed that co^(2+)preferentially enters the lattice as the Fe/Sr ratio *** results in a decrease in the lattice constants a and c due to oxygen vacancies and iron ion *** impact of co substitution on morphology is minor compared to the effect of the Fe/Sr *** the Fe/Sr ratio decreases and the co content increases,the saturation magnetization *** magnetic anisotropy field exhibits a nonlinear change,generally increasing with higher Fe/Sr ratios and co *** changes in the performance of permanent magnets are attributed to the absence of Fe^(3+)ions at the 12k+2a and 2b sites and the substitution of co^(2+)at the 2b *** suggests that by adjusting the Fe/Sr ratio and appropriate co substitution,the magnetic anisotropy field of M-type strontium ferrite can be effectively optimized.

关键词： hexaferrite co substitution Raman spectra magnetic properties

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n-Alkane bound biomarker fingerprints from asphaltenes in the bitumens of Eastern Dahomey Basin,Nigeria:Source and genetic implications

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Petroleum Research 2024年第1期9卷 85-91页

作者： Modupe A.Egbeola Olubunmi c.Adeigbe Olajide j.Adamolekun Department of Geology University of IbadanIbadanNigeria Structural Geology and Tectonics Institute of Applied GeosciencesKIT-Karlsruhe Institute of TechnologyAdenauerring 20a76131KarlsruheGermany

The asphaltene fractions of the bitumens of Eastern Dahomey Basin in Nigeria,were analyzed by flash pyrolysis-gas chromatography(Py-Gc)method in order to unravel its geochemical history and *** distributions of the initial biomarkers of the original oils from the pyrolysates are related to the assessment of organic matter source,paleo-redox conditions and source environment during ***,it effectively establishes the genetic relationship of the *** n-alkane distributions in the pyrolysates reveal nc_(9)-nc_(32)n-alkanes,maximizing at nc_(14),isoprenoids-pristane(Pr)and phytane(Ph),and some n-alkene *** peaks of low to medium-weight nc_(9)-nc20 n-alkanes and low peaks of nc_(21)+n-alkanes characterize the *** reveal that abundant algal organic matter with some terrigenous inputs contributed to the source rock of the *** high concentration of marine organic matter inputs to the source rock is further confirmed by the nc_(17)/nc27 ratios which range from 5.39 to 19.82 and shows the predominance of nc_(17)*** general unimodal n-alkane distributions in the bitumens indicate derivation from similar organic matter types showing that they are genetically *** anoxic to suboxic environmental conditions that prevailed during the deposition of the sediments is revealed by the isoprenoids,Pr/Ph ratios(0.72-1.28).Pristane/nc_(17)and Phytane/nc_(18)range from 0.16 to 0.33 and 0.22 to 0.56,revealing that the bitumens were from predominantly marine organic matter(type II kerogen)preserved in a reducing environment with no evidence of ***,the Ph/nc_(18)ratio and the cross plot of Pr+Ph/nc_(17)+nc_(18)allow the classification of the bitumens into two subfamilies/groups(A and B).The bitumen samples have low wax content as indicated by the degree of waxiness ranging from 0.21 to 0.38 which confirms low terrigenous *** on the carbon preference index(cPI:0.92 to 1.55)and odd-even predo

关键词： Genetic relationship Flash pyrolysis Biomarker Asphaltene Pyrolysates

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Advancements on metal oxide semiconductor photocatalysts in photo-electrochemical conversion of carbon dioxide into fuels and other useful products

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Frontiers in Energy 2024年第2期18卷 187-205页

作者： jai PRAKASH Zhangsen cHEN Shakshi SAINI Gaixia ZHANG Shuhui sun Department of chemistry National Institute of Technology HamirpurHamirpur 177005India Institut National de la Recherche Scientifique(INRS) Centre Énergie Matériaux TélécommunicationsVarennes J3X 1P7Canada Department of chemistry Indian Institute of Technology MandiHimachal PradeshIndia Department of Electrical Engineering École de Technologie SupérieureMontréal H3C 1K3Canada

Due to its fascinating and tunable optoelectronic properties,semiconductor nanomaterials are the best choices for multidisciplinary ***,the use of semiconductor photocatalysts is one of the promising ways to harness solar energy for useful applications in the field of energy and *** recent years,metal oxide-based tailored semiconductor photocatalysts have extensively been used for photocatalytic conversion of carbon dioxide(cO_(2))into fuels and other useful products utilizing solar *** is very significant not only from renewable energy consumption but also from reducing global warming point of *** current research activities are promising for a better future of *** present mini-review is focused on recent developments(2–3 years)in metal oxide semiconductor hybrid photocatalysts-based photo-electrochemical conversion of cO_(2)into fuels and other useful ***,general mechanism of photo-electrochemical conversion of cO_(2)into fuels or other useful products has been ***,various metal oxide-based emerging hybrid photocatalysts including tailoring of their morphological,compositional,and optoelectronic properties have been discussed with emphasis on their role in enhancing photoelectrochemical ***,mechanism of their photo-electrochemical reactions and applications in cO_(2)conversion into fuels/other useful products have been ***,challenges and future prospects have been discussed followed by a summary.

关键词： metal-oxide semiconductors nanohybrid photocatalysts photo-electrochemical cO_(2)conversion tailoring morphology fuels challenges and future prospects

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An interfacial robust and entire self-healing ionogel-elastomer hybrid for elastic electronics enables discretionary assembly and reconfiguration

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Science china chemistry 2024年第4期67卷 1316-1323页

作者： Lei Yang Lijie sun Hongfei Huang Rasoul Esmaeely Neisiany Zhengwei You State Key Laboratory for Modification of chemical Fibers and Polymer Materials Institute of Functional MaterialsCollege of Materials Science and EngineeringDonghua UniversityResearch Base of Textile Materials for Flexible Electronics and Biomedical Applications(China Textile Engineering Society)Shanghai Engineering Research Center of Nano-Biomaterials and Regenerative MedicineShanghai 201620China Department of Polymer Engineering Hakim Sabzevari UniversitySabzevar ***Iran Biotechnology centre Silesian University of TechnologyGliwice 44-100Poland

Inspired by the multi-layer architecture of mammal skins,interfacial robust,stretchable,and entirely healable gel-elastomer hybrids hold great potential in diverse fields including biomedical devices,wearable electrical devices,and soft ***,existing gel-elastomer hybrids have numerous limitations including low interfacial bonding toughness,complex and time-consuming preparation process,unhealable,and ***,we propose a simple and general chemical strategy through the interfacial dynamic bonding between gel and elastomer to simultaneously address the abovementioned *** covalent bonds readily and repeatably covalent bonding ionogel and elastomer(interfacial toughness:390 j m^(-2)),endowed the hybrids with entire self-healing features like skin and enabled discretionary assembly and ***,this strategy resolved the troublesome contradiction between interfacial stability and *** advantage of the aforementioned features,we readily constructed a multi-module,self-healing,self-powered,and realtime monitoring of personal status integrated elastic electronics,which could simply reconfigure the output signal of elastic electronics into an input signal of the devices-braille keyboard.

关键词： ionogel elastomer interface bonding self-healing dynamic covalent bond

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The effect of lengths of branched-chain fatty alcohols on the efficacy and safety of docetaxel-prodrug nanoassemblies

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Acta Pharmaceutica Sinica B 2024年第3期14卷 1400-1411页

作者： Shuo Wang Tian Liu Yuetong Huang chaoying Du Danping Wang Xiyan Wang Qingzhi Lv Zhonggui He Yinglei Zhai Bingjun sun jin sun Wuya college of Innovation Shenyang Pharmaceutical UniversityShenyang 110016China School of Pharmacy Shenyang Pharmaceutical UniversityShenyang 110016China School of Medical Devices Shenyang Pharmaceutical UniversityShenyang 110016China School of Pharmacy Binzhou Medical UniversityBinzhou 256600China

The self-assembly prodrugs are usually consisted of drug modules,activation modules,and assembly *** the balance between efficacy and safety by selecting suitable modules remains a challenge for developing prodrug *** study designed four docetaxel(DTX)prodrugs using disulfide bonds as activation modules and different lengths of branched-chain fatty alcohols as assembly modules(c_(16),c_(18),c_(20),and c_(24)).The lengths of the assembly modules determined the self-assembly ability of prodrugs and affected the activation modules’*** extension of the carbon chains improved the prodrugs’self-assembly ability and pharmacokinetic behavior while reducing the cytotoxicity and increased cumulative *** use of c_(20) can balance efficacy and *** results provide a great reference for the rational design of prodrug nanoassemblies.

关键词： Prodrugs Nanoassemblies Self-assembly Branched-chain fatty alcohols Disulfide bond Docetaxel Efficacy Safety

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