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Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts

Journal of Genetics and Genomics 2024年第2期51卷 222-229页

作者： Wenbin Huang Shiying Zhang Jiuxiang Lin Yi Ding Nan jiang Jieni Zhang Huaxiang Zhao feng Chen Department of Orthodontics Peking University School and Hospital of StomatologyBeijing100081China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research College of StomatologyXi’an Jiaotong UniversityXi’anShaanxi710004China Guangdong Provincial High-level Clinical Key Specialty Guangdong Province Engineering Research Center of Oral Disease Diagnosis and TreatmentDepartment of OrthodonticsStomatological CenterPeking University Shenzhen HospitalShenzhen Peking University-The Hong Kong University of Science and Technology Medical CenterShenzhenGuangdong 518036China Department of Physiology and Pathophysiology School of Basic Medical SciencesXi'an Jiaotong UniversityXi'anShaanxi710049China National Center for Stomatology National Clinical Research Center for Oral DiseasesNational Engineering Laboratory for Digital and Material Technology of StomatologyBeijing Key Laboratory for Digital StomatologyResearch Center of Engineering and Technology for Computerized Dentistry Ministry of HealthNMPA Key Laboratory for Dental MaterialsBeijing100101China Central Laboratory Peking University School and Hospital of StomatologyBeijing100081China

Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare heterozygous variants (p.P441T and p.G565R) in FLNB in two unrelated hereditary families with NSOFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.G565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSOFCs in humans.

关键词： Or ofacial clefts FLNB Loss-of-function mutati on Cleft palate Filamin B Actin flannent Knockout mouse

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Curation,nomenclature,and topological classification of receptor-like kinases from 528 plant species for novel domain discovery and functional inference

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Molecular Plant 2024年第4期17卷 658-671页

作者： Qian Liu Qiong Fu Yujie Yan Qian jiang Longfei Mao Long wang feng Yu Heping Zheng State Key Laboratory of Chemo/Biosensing and Chemometrics Hunan University College of BiologyChangshaHunan 410082China Bioinformatics Center Hunan University College of BiologyChangshaHunan 410082China

Receptor-like kinases(RLKs)are the most numerous signal transduction components in plants and play important roles in determining how different plants adapt to their ecological *** on RLKs has focused mainly on a small number of typical RLK members in a few model *** is an urgent need to study the composition,distribution,and evolution of RLKs at the holistic level to increase our understanding of how RLKs assist in the ecological adaptations of different plant *** this study,we collected the genome assemblies of 528 plant species and constructed an RLK *** this dataset,we identified and characterized 524948 RLK family *** member underwent systematic topological classification and was assigned a gene ID based on a unified nomenclature ***,we identified two novel extracellular domains in some RLKs,designated Xiao and *** analysis of the RLK family revealed that the RLCK-XVII and RLCK-XII-2 classes were present exclusively in dicots,suggesting that diversification of RLKs between monocots and dicots may have led to differences in downstream cytoplasmic *** also used an interaction proteome to help empower data mining for inference of new RLK functions from a global perspective,with the ultimate goal of understanding how RLKs shape the adaptation of different plants to the environments/*** assembled RLK dataset,together with annotations and analytical tools,forms an integrated foundation of multiomics data that is publicly accessible via the metaRLK web portal(http://***).

关键词： RLK RLCK domain signaling pathway receptor-protein interactions

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Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations

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Asian Journal of Andrology 2024年第4期26卷 426-432页

作者： Yu-Fan Yang Hai-Lu Ma Xi wang Min Nie jiang-feng Mao Xue-Yan Wu Department of Endocrinology Peking Union Medical College HospitalChinese Academy of Medical SciencesPeking Union Medical CollegeBeijing 100730China.

Fibroblast growth factor receptor 1(FGFR1)mutations are associated with congenital hypogonadotropic hypogonadism(CHH)through inheritance or spontaneous *** detected FGFR1 mutations in a Chinese cohort of 210 CHH patients at Peking Union Medical College Hospital(Beijing,China)using next-generation and Sanger *** assessed missense variant pathogenicity using six bioinformatics tools and compared clinical features and treatment outcomes between inherited and de novo mutation *** 19 patients with FGFR1 mutations,three were recurrent,and 16 were novel *** of the novel mutations were likely pathogenic according to the American College of Medical Genetics and Genomics(ACMG)guidelines,with the prevalent P366L *** majority of FGFR1 mutations was inherited(57.9%),with frameshift mutations exclusive to the de novo mutation *** inherited mutation group had a lower incidence of cryptorchidism,short stature,and skeletal *** the inherited mutation group,luteinizing hormone(LH)levels were 0.5 IU l−1,follicle-stimulating hormone(FSH)levels were 1.0 IU l−1,and testosterone levels were 1.3 nmol l−*** contrast,the de novo group had LH levels of 0.2 IU l−1,FSH levels of 0.5 IU l−1,and testosterone levels of 0.9 nmol l−1,indicating milder hypothalamus–pituitary–gonadal axis(HPGA)functional deficiency in the inherited *** inherited mutation group showed a tendency toward higher spermatogenesis *** conclusion,this study underscores the predominance of inherited FGFR1 mutations and their association with milder HPGA dysfunction compared to de novo mutations,contributing to our understanding of the genetic and clinical aspects of FGFR1 mutations.

关键词： congenital hypogonadotropic hypogonadism de novo FGFR1 inherited

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Groundwater chromate removal by autotrophic sulfur disproportionation

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Environmental Science and Ecotechnology 2024年第5期21卷 187-196页

作者： Yan-Ying Qiu Juntao Xia Jiahua Guo Xianzhe Gong Liang Zhang feng jiang Guangdong Provincial Key Lab of Environmental Pollution Control and Remediation Technology School of Environmental Science and EngineeringSun Yat-sen UniversityGuangzhou510275China Guangdong Provincial International Joint Research Center on Urban Water Management and Treatment Sun Yat-sen UniversityGuangzhouChina Institute of Marine Science and Technology Shandong UniversityQingdaoShandong266237China

Chromate[Cr(VI)]contamination in groundwater is a global environmental *** elemental sulfur-based biotechnologies for Cr(VI)removal depend heavily on the synthesis of dissolved organic carbon to fuel heterotrophic Cr(VI)reduction,a bottleneck in the remediation *** we show an alternative approach by leveraging sulfur-disproportionating bacteria(SDB)inherent to groundwater ecosystems,offering a novel and efficient Cr(VI)removal *** implemented SDB within a sulfur-packed bed reactor for treating Cr(VI)-contaminated groundwater,achieving a notable removal rate of 6.19 mg L^(-1) h^(-1) under oligotrophic *** identified the chemical reduction of Cr(VI)via sulfide,produced through sulfur disproportionation,as a key mechanism,alongside microbial Cr(VI)reduction within the sulfur-based ***-centric metagenomic analysis revealed a symbiotic relationship among SDB,sulfur-oxidizing,and chromate-reducing bacteria within the reactor,suggesting that Cr(VI)detoxification by these microbial communities enhances the sulfurdisproportionation *** research highlights the significance of sulfur disproportionation in the cryptic sulfur cycle in Cr(VI)-contaminated groundwater and proposes its practical application in groundwater remediation efforts.

关键词： Groundwater remediation Sulfide generation Sulfur-disproportionating bacteria Cr(VI)reduction Symbiotic interactions

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Differential Occupational Health Risks between Methylated PAHs and PAHs:Monitoring 126 PAHs and 6 Oxidative Stress Markers in Paired Serum−Urine Samples

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Environment & Health 2024年第3期2卷 150-160页

作者： Ke-Xin Zhao Chao jiang Yue Han Wen-Long Li Yu-Wei Li Li-Yan Liu wan-Li Ma Ying-Hua Hu Zi-feng Zhang International Joint Research Center for Persistent Toxic Substances(IJRC-PTS) State Key Laboratory of Urban Water Resource and Environment/School of EnvironmentHarbin Institute of Technology(HIT)Harbin 150090China Wadsworth Center New York State Department of Healthand Department of Environmental Health SciencesSchool of Public HealthState University of New York at AlbanyAlbanyNew York 12237United States

The hazards of polycyclic aromatic hydrocarbons(PAHs)on occupationally exposed population have been widely ***,the occupational exposure risks associated their derivatives,methylated PAHs,remain poorly *** study conducted a screen of 126 PAHs and 6 oxidative stress biomarkers(OSBs)in paired serum−urine samples from 110 petrochemical workers to assess the risk associated with different PAHs *** results showed that the median concentrations of unmetabolized 16 priority PAHs(p-PAHs),16 regular PAHs(R-PAHs),50 methyl-PAHs(Me-PAHs),and 30 nitro-PAHs(N-PAHs)in serum(urine)were 97.98(66.46),11.02(0.00),77.76(31.77),and 1.93(0.10)ng/mL,*** median concentration of metabolized hydroxy PAHs(OH-PAHs)in urine was 12.00 ng/mL(9.49 ng/mg creatinine).OSBs indicate that the hazards of Me-PAHs on exposed populations manifest as protein damage,while the hazards of p-PAHs mainly result in lipid and DNA *** from common diseases and PAH exposure demonstrate a correlation between liver damage and PAH exposure,and Me-PAHs are more difficult to metabolize through urine due to their stronger *** study suggests that traditional health screenings targeting p-PAHs may be insufficient and likely underestimate the exposure risks for occupational populations.

关键词： Petrochemical workers Methyl-PAHs Nitro-PAHs Oxidative stress biomarkers Health risk

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Recent Progress in Fabrication and Structural Design of Thermal Conductive Polymer Composites

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Chinese Journal of Polymer Science 2024年第3期42卷 277-291,I0004页

作者： Yuan-Kai Du Zheng-Xue Shi Shan Dong Hui Jin Xue Ke Pei Zhao Bing-Bing jiang feng You Hubei Key Laboratory of Plasma Chemistry and Advanced Materials School of Material Science and EngineeringWuhan Institute of TechnologyWuhan 430205China Key Laboratory of Green Preparation and Application of Functional Materials Ministry of EducationHubei UniversityWuhan 430062China Institute of Molecular Aggregation Science Tianjin UniversityTianjin 300072China

In recent years, the demand direction for electronic equipment has expanded into embedded and miniaturized devices. The heat radiation problem has become one of the most significant factors for hindering the development of electronic devices. Since heat radiation material is one of the important components in electronic devices, the demand for enhancing thermal conductivity is also increasingly urgent. Research on thermal conductive polymer composites has become a major direction for developing functional composites. This work reviewed the recent progress in the fabrication of thermal conductive polymer composites. Five different structures are presented, including the using of single fillers,hybrid fillers, double threshold percolation structure, segregated structure and other complex multiphase structures. Specifically, the preparation of high-performance thermal conductive polymer composites was introduced through the combination of various thermal conductive ***, the development direction of high thermal conductive polymer composites was briefly explored.

关键词： Thermal conductive polymer Hybrid fillers Polymer composite Thermal resistance

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{1012}twin–twin intersection-induced lattice rotation and dynamic recrystallization in Mg–6Al–3Sn–2Zn alloy

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Journal of Magnesium and Alloys 2024年第4期12卷 1529-1539页

作者： Bin-jiang Lv Sen wang Fu-Hao Gao Ning Cui Yi-Nan Li Tie-Wei Xu feng Guo School of Mechanical and Automotive Engineering Qingdao University of Technology266520China Key Lab of industrial Fluid Energy Conservation and Pollution Control Qingdao University of Technology266520China

This study investigated the formation mechanism of new grains due to twin–twin intersections in a coarse-grained Mg–6Al–3Sn–2Zn alloy during different strain rates of an isothermal *** results of electron backscattered diffraction investigations showed that the activated twins were primarily{1012}tension twins,and 60°boundaries formed due to twin–twin intersections under different strain *** twin variants with 60°boundaries transformed into new grains through lattice rotations at a low strain rate(0.01 s^(−1)).At a high strain rate(10 s^(−1)),the regions surrounded by subgrain boundaries through high-density dislocation arrangement and the 60°boundaries transformed into new grains via dynamic recrystallization.

关键词： Mg alloy Twin-twin intersection Lattice rotation Dynamic recrystallization

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Effects of Reinforcement Content and Homogenization Treatment on the Microstructure and Mechanical Properties of in‑situ TiB_(2)/2219Al Composites

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Acta Metallurgica Sinica(English Letters) 2024年第8期37卷 1421-1437页

作者： Linwei Li Donghu Zhou Kai Zhao Lifeng jiang Huijun Kang Enyu Guo feng Mao Zongning Chen Tongmin wang Key Laboratory of Solidification Control and Digital Preparation Technology(Liaoning Province) School of Materials Science and EngineeringDalian University of TechnologyDalian 116024China Ningbo Institute of Dalian University of Technology Ningbo 315000China National Joint Engineering Research Center for Abrasion Control and Molding of Metal Materials Henan University of Science and TechnologyLuoyang 471003China Longmen Laboratory Luoyang 471000China

Obtaining an appropriate grain size is crucial for Al alloys or Al matrix composites prior to processing,as it significantly influences the mechanical properties of components and workability during the manufacturing ***_(2)particles are exceptional grain refiners in Al and serve as excellent reinforcement particles for particulate-reinforced aluminum matrix ***,the optimal particle content for achieving excellent refinement and strengthening effects depends on the matrix composition and requires further ***,homogenization is essential for mitigating the element segregation in the *** it is anticipated that adding suitable particles can effectively inhibit undesired grain growth during homogenization,comprehensive investigations on this aspect are currently ***,TiB_(2)/2219Al matrix composites with varying reinforcement contents(0,1,3,5 wt%)were fabricated through traditional casting followed by homogenization treatment to address these research *** effects of reinforcement content and homogenization treatment on the microstructure and mechanical properties of in-situ TiB_(2)/2219Al composites were *** results demonstrate a gradual strengthening of the refining effect with increasing particle ***,composites containing 3 wt%TiB_(2)particles exhibit superior comprehensive mechanical properties in both as-cast and homogenized ***,potential orientation relationships are observed and calculated between undissolved Al_(2)Cu eutectic phase and submicron or nanometer-sized TiB_(2)particles,resulting in a mixture structure with enhanced bonding *** mixture structure is continuously distributed along grain boundaries during solidification,forming a three-dimensional cellular network that acts as primary retarding forces for grain growth during ***,the established homogenization kinetic equations were further utilized to an

关键词： TiB_(2)/2219Al matrix composite Reinforcement content Homogenization treatment Homogenization kinetic Cellular structure Mechanical property

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L^(p)-solutions of Multi-dimensional Oblique Reflected BSDEs and Optimal Switching Problem on Finite or Infinite Time Horizon

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Acta Mathematicae Applicatae Sinica 2024年第4期40卷 1127-1146页

作者： Xue-jun SHI Qun feng Long jiang School of Mathematics and Statistics Shandong Normal UniversityJinan 250358China School of Management Science and Engineering University of JinanJinan 250002China School of Mathematics China University of Mining and TechnologyXuzhou 221116China

In this paper,we study mulit-dimensional oblique reflected backward stochastic differential equations(RBSDEs)in a more general framework over finite or infinite time horizon,corresponding to the pricing problem for a ... 详细信息

关键词： multi-dimensional oblique reflected BSDE optimal switching and stopping problem finite or infinite time horizon uniformly continuous generators

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STAT3 ameliorates truncated tau-induced cognitive deficits

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Neural Regeneration Research 2024年第4期19卷 915-922页

作者： Bingge Zhang Huali wan Maimaitijiang Maierwufu Qian Liu Ting Li Ye He Xin wang Gongping Liu Xiaoyue Hong Qiong feng Department of Pathophysiology School of Basic Medicine and the Collaborative Innovation Center for Brain ScienceKey Laboratory of Ministry of Education of China and Hubei Province for Neurological DisordersTongji Medical CollegeHuazhong University of Science and Technology Department of Laboratory Medicine Guangdong ProvincialPeople's Hospital(Guangdong Academy of Medical Sciences)Southern Medical University Department of Laboratory Medicine Zhongnan Hospital of Wuhan University Department of Pathology Wuhan Children's HospitalTongji Medical CollegeHuazhong University of Science and Technology

Proteolytic cleavage of tau by asparagine endopeptidase(AEP)creates tau-N368 fragments,which may drive the pathophysiology associated with synaptic dysfunction and memory deterioration in the brain of Alzheimer’s disease ***,the molecular mechanisms of truncated tau-induced cognitive deficits remain *** suggests that signal transduction and activator of transcription-3(STAT3)is associated with modulating synaptic plasticity,cell apoptosis,and cognitive *** luciferase reporter assays,electrophoretic mobility shift assays,western blotting,and immunofluorescence,we found that human tau-N368 accumulation inhibited STAT3 activity by suppressing STAT3 translocation into the *** of STAT3 improved tau-N368-induced synaptic deficits and reduced neuronal loss,thereby improving the cognitive deficits in tau-N368 ***,in tau-N368 mice,activation of STAT3 increased N-methyl-D-aspartic acid receptor levels,decreased Bcl-2 levels,reversed synaptic damage and neuronal loss,and thereby alleviated cognitive deficits caused by *** together,STAT3 plays a critical role in truncated tau-related neuropathological *** indicates a new mechanism behind the effect of tau-N368 on synapses and memory ***3 can be used as a new molecular target to treat tau-N368-induced protein pathology.

关键词： Alzheimer’s disease apoptosis cognitive deficit memory neurodegenerative disease neuron loss N-methyl-D-aspartic acid receptor STAT3 synapse tau-N368

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