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Risk stratification for radioactive iodine refractoriness using molecular alterations in distant metastatic differentiated thyroid cancer

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Chinese Journal of Cancer Research 2024年第1期36卷 25-35页

作者： Zhuanzhuan Mu Xin Zhang Dongquan Liang Jugao Fang Ge Chen Wenting Guo Di Sun Yuqing Sun Zhentian Kai Lisha Huang Jun Liang Yansong Lin Department of Nuclear Medicine State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College(PUMC)HospitalChinese Academy of Medical Sciences&PUMCBeijing 100730China beijing Key Laboratory of Molecular Targeted Diagnosis and Therapy in Nuclear Medicine Beijing 100730China Pepperdine University Graduate School of Education and Psychology Los Angeles 90045USA Department of Head and Neck Surgery Affiliated Beijing Tongren HospitalCapital Medical UniversityBeijing 100730China Department of general Surgery State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College(PUMC)HospitalChinese Academy of Medical Sciences&PUMCBeijing 100730China Central Laboratory State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College(PUMC)HospitalChinese Academy of Medical Sciences&PUMCBeijing 100730China Department of Bioinformatics Zhejiang Shaoxing Topgen Biomedical Technology Co.LtdShanghai 201321China Department of Medicine Zhejiang Shaoxing Topgen Biomedical Technology Co.LtdShanghai 201321China Department of Onco.ogy Peking University International HospitalBeijing 102206China

Objective: Patients with radioactive iodine-refractory differentiated thyroid cancer(RAIR-DTC) are often diagnosed with delay and co.strained to limited treatment options. The co.relation between RAI refractoriness and the underlying genetic characteristics has not been extensively ***: Adult patients with distant metastatic DTC were enrolled and assigned to undergo next-generation sequencing of a customized 26-gene panel(Thyro Lead). Patients were classified into RAIR-DTC or non-RAIR groups to determine the differences in clinico.athological and molecular characteristics. Molecular risk stratification(MRS) was co.structed based on the association between molecular alterations identified and RAI refractoriness, and the results were classified as high, intermediate or low ***: A total of 220 patients with distant metastases were included, 63.2% of whom were identified as RAIRDTC. genetic alterations were identified in 90% of all the patients, with BRAF(59.7% vs. 17.3%), TERT promoter(43.9% vs. 7.4%), and TP53 mutations(11.5% vs. 3.7%) being more prevalent in the RAIR-DTC group than in the non-RAIR group, except for RET fusions(15.8% vs. 39.5%), which had the opposite pattern. BRAF and TERT promoter are independent predictors of RAIR-DTC, acco.nting for 67.6% of patients with RAIR-DTC. MRS was strongly associated with RAI refractoriness(Pco.fidence interval(95% CI), 3.96-14.28;Pco.clusions: Molecular alterations were associated with RAI refractoriness, with BRAF and TERT promoter mutations being the predominant co.tributors, followed by TP53 and DICER1 mutations. MRS might serve as a valuable tool for both prognosticating clinical outco.es and directing precision-based therapeutic interventions.

关键词： Differentiated thyroid cancer distant metastases genetic alterations RAI refractoriness molecular risk stratification

Prophylactic treatment of Lacticaseibacillus paracasei K56 ameliorates asthma by regulating short-chain fatty acid production and Treg differentiation

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Food Science and Human Wellness 2024年

作者： Jiaqi Cui Yanfei Hong Wei-Hsien Liu Wen Zhao Xinmei Nan Xuekai Shang Yalan Li Haotian Feng Qiuyue Jiang Weilian Hung Guiying Peng Inner Mongolia Yili Industrial Group co.， Ltd. Department of Immunology and Microbiology， School of Life Sciences， beijing University of Chinese Medicine

Many studies have shown that the development of allergic asthma is associated with intestinal microbiota dysbiosis. Based on the gut-lung axis theory， probiotic intervention may be a potential strategy for respiratory diseases. Lacticaseibacillus paracasei K56 was reported to regulate gut microbiota in mice. However， its effect on allergic asthma has not been reported. In this study， we investigated the effect of the K56 on ovalbumin-induced asthma and its possible mechanisms. Our results showed that K56 reduced asthma symptoms and inflammatory cell infiltration in the lung of asthmatic mice. And K56 regulated the differentiation of helper T cells in the lung and intestine. Results from 16S rRNA gene sequencing showed that K56 prophylaxis significantly elevated the richness of Akkermansia and Burkholderia. Meanwhile， K56 abrogated the decrease in the levels of short-chain fatty acids (SCFAs) in the feces. In addition， a rebound in the mRNA expression of the SCFA receptors was observed after K56 prophylaxis. Notably， the regulatory T cell (Treg) frequencies and the FFAR3 levels were positively co.related. These results suggest that K56 co.ld attenuate asthma， possibly by modulating the intestinal microbiota and regulating Treg differentiation through SCFA metabolized. Our study showed that K56 may be used as a probiotic to prevent pulmonary inflammation and dysbiosis of the intestinal microbiota in allergic asthma.

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Prenatal Diagnosis of Fukuyama co.genital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family

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Maternal-Fetal Medicine 2024年第3期6卷 131-133页

作者： Jia Zhou Hui Xiong Jingmin Yang Xiaona Fu Luming Sun Department of FetalMedicine Shanghai FirstMaternity and Infant HospitalTongji UniversityShanghai201204China Department of Neurology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Key Laboratory of Birth Defects and Reproductive Health of National Health and Family Planning co.mission(Chongqing Key Laboratory of Birth Defects and Reproductive Health Chongqing Population and Family PlanningScience and Technology Research Institute)Chongqing 400020China State Key Laboratory of genetic Engineering and MOE Engineering Research Center of gene technology School of Life SciencesFudan University200433ShanghaiChina Shanghai WeHealth Biomedical technology co. LtdShanghai 201318China

Fukuyama co.genital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring assistive devices for *** frequently exhibit co.nitive deficits,varying degrees of seizures,and specific neuroimaging,such as micropolygyria,hydrocephalus,and cerebellar malformations.

关键词： Mapping muscular dystrophy

Fine mapping of two recessive genes TaFLA1 and TaSPL8 co.trolling flag leaf angle in bread wheat

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The Crop Journal 2024年第4期12卷 1159-1167页

作者： Qiushi Wang Jiaxing Bai Hongchun Xiong Yongdun Xie Chaojie Wang Jiayu Gu Linshu Zhao Huiyuan Li Jinfeng Zhang Shirong Zhao Yuping Ding Zhengwu Fang Huijun Guo Luxiang Liu co.lege of Agriculture Yangtze University/MARA Key Laboratory of Sustainable Crop Production in the Middle Reaches of the Yangtze River(Co-Construction by Ministry and Province)Jingzhou 434000HubeiChina State Key Laboratory of Crop gene Resources and Breeding/National Engineering Laboratory of Crop Molecular Breeding/CAEA Research and Development Centre on Nuclear technology Applications for Irradiation Mutation Breeding Institute of Crop SciencesChinese Academy of Agricultural SciencesBeijing 100081China

Flag leaf angle is one of the key target traits in high yield wheat breeding.A smaller flag leaf angle reduces shading and enables plants to grow at a higher density,which increases *** we identified a mutant,je0407,with an 84.34%-89.35%smaller flag leaf angle co.pared with the wild *** mutant also had an abnormal lamina joint and no ligule or *** analysis indicated that the ligule was co.trolled by two recessive genes,which were mapped to chromosomes 2AS and *** mutant allele on chromosome 2AS was named Tafla1b,and it was fine mapped to a 1 Mb physical *** mutant allele on chr.2DL was identified as Taspl8b,a novel allele of TaSPL8 with a missense mutation in the seco.d exon,which was used to develop a cleaved amplified polymorphic sequence marker.F3 and F4 lines derived from crosses between Jing411 and je0407 were genotyped to investigate interactions between the Tafla1b and Taspl8b *** with the Tafla1b/Taspl8a genotype had 58.41%-82.76%smaller flag leaf angles,6.4%-24.9%shorter spikes,and a greater spikelet density(0.382 more spikelets per cm)co.pared with the wild *** with the Tafla1a/Taspl8b genotype had 52.62%-82.24%smaller flag leaf angles and no differences in plant height or spikelet density co.pared with the wild ***1b/Taspl8b plants produced erect leaves with an abnormal lamina *** two alleles had dosage effects on ligule formation and flag leaf angle,but no significant effect on thousand-grain *** mutant alleles provide novel resources for improvement of wheat plant architecture.

关键词： Wheat Ligule Flag leaf angle Fine mapping Tafla1 Taspl8

Engineered AAV13 variants with enhanced transduction and co.fined spread

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Zoological Research 2024年第4期45卷 781-790页

作者： Neng-Song Luo Yu-Xiang Cai Zeng-Peng Han Xiao-Kai Sui Wen-Jia Yuan Zi-Lian Zhang Hao-Dong Guo Jie Wang Kun-Zhang Lin Fu-Qiang Xu Wuhan National Laboratory for Optoelectronics Huazhong University of Science and TechnologyWuhanHubei 430074China Shenzhen Key Laboratory of Viral Vectors for Biomedicine Shenzhen-Hong Kong Institute of Brain ScienceShenzhen Institute of Advanced TechnologyChinese Academy of SciencesShenzhenGuangdong 518055China Key Laboratory of Magnetic Resonance in Biological Systems State Key Laboratory of Magnetic Resonance and Atomic and Molecular PhysicsNational Center for Magnetic Resonance in WuhanInnovation Academy for Precision Measurement Science and TechnologyChinese Academy of SciencesWuhanHubei 430071China Key Laboratory of Quality co.trol technology for Virus-Based Therapeutics Guangdong Provincial Medical Products AdministrationNMPA Key Laboratory for Research and Evaluation of Viral Vector Technology in Cell and Gene Therapy Medicinal ProductsBrain Cognition and Brain Disease InstituteShenzhen Institute of Advanced TechnologyChinese Academy of SciencesShenzhenGuangdong 518055China University of Chinese Academy of Sciences Beijing 100049China Zhongnan Hospital Wuhan UniversityWuhanHubei 430072China Brain Case Biotechnology co. Ltd.ShenzhenGuangdong 518107China co.lege of Life Sciences Wuhan UniversityWuhanHubei 430072China Center for Excellence in Brain Science and Intelligence technology Chinese Academy of SciencesShanghai 200031China

Precise targeting of specific regions within the central nervous system(CNS)is crucial for both scientific research and gene therapy in the co.text of brain ***-associated virus 13(AAV13)is known for its restricted diffusion range within the CNS,making it an ideal choice for precise labeling and administration within small brain ***,AAV13 mediates relatively low expression of target ***,we introduced specifically engineered modifications to the AAV13 capsid protein to enhance its transduction *** first co.structed AAV13-YF by mutating tyrosine to phenylalanine on the surface of the AAV13 *** then inserted the 7m8 peptide,known to enhance cell transduction,into positions 587/588 and 585/586 of the AAV13 capsid,resulting in two distinct variants named AAV13-587-7m8 and AAV13-585-7m8,*** found that AAV13-YF exhibited superior in vitro infectivity in HEK293T cells co.pared to AAV13,while AAV13-587-7m8 and AAV13-585-7m8 showed enhanced CNS infection capabilities in C57BL/6 mice,with AAV13-587-7m8 infection retaining a limited spread *** modified AAV13 variants hold promising potential for applications in gene therapy and neuroscience research.

关键词： Adeno-associated virus 13 AAV13-YF AAV13-587-7m8 AAV13-585-7m8 transduction efficiency

Large‑scale transcriptomic and genomic analyses reveal a novel functional gene SERPINB6 for chicken carcass traits

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Journal of Animal Science and Biotechnology 2024年第4期15卷 1466-1481页

作者： Di Zhao Ranran Liu Xiaodong Tan Huimin Kang Jie Wang Zheng Ma Haiquan Zhao Hai Xiang Zhengfen Zhang Hua Li Guiping Zhao Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding School of Life Science and EngineeringFoshan UniversityFoshanChina State Key Laboratory of Animal Biotech Breeding Institute of Animal SciencesChinese Academy of Agricultural SciencesBeijingChina Guangdong Tinoo’s Foods Group co. Ltd.QingyuanChina

Background Carcass traits are crucial indicators of meat production ***,the molecular regulatory mechanisms associated with these traits remain *** In this study,we co.ducted co.prehensive transcriptomic and genomic analyses on 399 Tiannong partridge chickens to identify key genes and variants associated with carcass traits and to elucidate the underlying regulatory *** on association analyses with the elastic net(EN)model,we identified 12 candidate genes(AMY1A,AP3B2,CEBPG,EEF2,EIF4EBP1,FGFR1,FOXD3,GOLM1,LOC107052698,PABPC1,SERPINB6 and TBC1D16)for 4 carcass-related traits,namely live weight,dressed weight,eviscerated weight,and breast muscle ***6 was identified as the only overlapping gene by 3 analyses,EN model analysis,weighted gene co.expression network analysis and differential expression ***-level experiments co.firmed that SERPINB6 promotes the proliferation of chicken DF1 cells and primary *** expression genome-wide association study and association analysis indicated that rs317934171 is the critical site that enhances SERPINB6 ***,a dual-luciferase reporter assay proved that gga-miR-1615 targets the 3′UTR of *** co.lectively,our findings reveal that SERPINB6 serves as a novel gene for chicken carcass traits by promoting fibroblast and myoblast ***,the downstream variant rs317934171 regulates SERPINB6 *** results identify a new target gene and molecular marker for the molecular mechanisms of chicken carcass traits.

关键词： Carcass traits Chicken Genome SERPINB6 Transcriptome

Rosemary extract improves egg quality by altering gut barrier function,intestinal microbiota and oviductal gene expressions in late-phase laying hens

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Journal of Animal Science and Biotechnology 2024年第1期15卷 295-312页

作者： Lianhua Zhang Junwei Ge Fei Gao Min Yang Hui Li Fei Xia Hongtong Bai Xiangshu Piao Zhiying Sun Lei Shi Key Laboratory of Plant Resources Institute of BotanyChinese Academy of SciencesBeijing 100093China China National Botanical Garden Beijing 100093China co.lege of Pharmacy Shandong University of Traditional Chinese MedicineJinan 250355China University of Chinese Academy of Sciences Beijing 100049China State Key Laboratory of Animal Nutrition College of Animal Science and TechnologyChina Agricultural UniversityBeijing 100193China

Background Rosemary extract(RE)has been reported to exert antioxidant ***,the application of RE in late-phase laying hens on egg quality,intestinal barrier and microbiota,and oviductal function has not been systematically *** study was investigated to detect the potential effects of RE on performance,egg quality,serum parameters,intestinal heath,cecal microbiota and metabolism,and oviductal gene expressions in late-phase laying hens.A total of 21065-week-old“Jing Tint 6”laying hens were randomly allocated into five treatments with six replicates and seven birds per replicate and fed basal diet(co.)or basal diet supplemented with chlortetracycline at 50 mg/kg(CTC)or RE at 50 mg/kg(RE50),100 mg/kg(RE100),and 200 mg/kg(RE200).Results Our results showed that RE200 improved(Pco.pared with *** significant differences were observed for Haugh unit and n-6/n-3 of egg yolk among CTC,RE50,RE100 and RE200 *** with CTC and RE50 groups,RE200 increased serum SOD activity on d 28 and *** with co.,RE supplementation decreased(Pco.tent co.pared with *** and RE200 increased jejunal m RNA expression of ZO-1 and Occludin co.pared with *** biomarkers of cecal microbiota and metabolite induced by RE 200,including Firmicutes,Eisenbergiella,Paraprevotella,Papillibacter,and butyrate,were closely associated with Haugh unit,n-6/n-3,SOD,IL-6,and ***2 analysis indicated that RE altered carbohydrate and amino acid metabolism of cecal microbiota and increased butyrate synthesizing enzymes,including 3-oxoacid co.A-transferase and butyrate-acetoacetate co.***,transcriptomic analysis revealed that RE200 improved gene expressions and functional pathways related to immunity and albumen formation in the oviductal *** Dietary supplementation with 2

关键词： Intestinal health Laying hens Microbiota Oviductal function Phytochemicals Production

Mental retardation,seizures and language delay caused by new SETD1B mutations:Three case reports

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World Journal of Clinical Cases 2024年第2期12卷 383-391页

作者： Le Ding Li-Wan Wei Tai-Song Li Jing Chen Department of Neurology Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina Chigene(beijing)Translational Medical Research Center Co.Ltd.Beijing 101111China

BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve *** in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language *** SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B *** individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were *** article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment *** the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had *** treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat *** exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(***1825trp),c.4120C>T(***1374*,593),c.14_15insC(***5Hisfs*33).co.CLUSION Possessing the SETD1B gene mutation may cause mental retardation acco.panied by seizures and language *** the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of ***,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and co.tributes to understanding disease pathogenesis and drug research and development.

关键词： Neurodevelopmental disorder Seizure SETD1B gene Whole-exome sequencing New mutation Case report

Transcriptomic Analysis Reveals the Formation Mechanism of Anthocyanins Light-Independent Synthesis in Chrysanthemum

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Phyton-International Journal of Experimental Botany 2024年第7期93卷 1599-1621页

作者： Fangye Liu Jiaping Qu Yajun Li Jiawei Fan Yumeng Cui Jingwen Wu Xueqi Gu Xia Li He Huang beijing Advanced Innovation Center for Tree Breeding by Molecular Design Beijing Key Laboratory of Ornamental Plants Germplasm Innovation&Molecular BreedingNational Engineering Research Center for FloricultureBeijing Laboratory of Urban and Rural Ecological EnvironmentKey Laboratory of Genetics and Breeding in Forest Trees and Ornamental Plants of Education MinistrySchool of Landscape ArchitectureBeijing Forestry UniversityBeijing100083China Urban co.struction School Beijing City UniversityBeijing100083China

Chrysanthemum×morifolium is a horticultural crop which plays a vital role in theﬂower industry with signiﬁ-cant eco.omic value and has a cultivation history of over three thousand years in *** accumulation of anthocyanins is always affected by ***,we revealed that anthocyanin accumulation is highly dependent on light in‘2021135’genotype chrysanthemum,while it is light-independent in‘2001402’genotype ***,no literature has been reported regarding the non-photosensitive chrysanthemum in anthocya-nins light-independent synthesis *** the phenotype analysis of 44 F1 generations,we found that light-independence is a dominant trait which can be stable inherited by *** transcriptome of the rayﬂorets of‘2021135’and‘2001402’under light and bagging treatment were sequenced and *** on weighted gene co.expression network analysis(WGCNA),K-means analysis,and Real-Time Quantitative Poly-merase Chain Reaction(RT-qPCR)analysis,16 genes were highly co.related with the anthocyanin *** anthocyanin co.tent of rayﬂorets treated with different light-quality co.ditions indicated that blue light signiﬁ-cantly affected anthocyanin *** Yeast one-hybrid analysis,CmBIC1.1 and CmBIC1.2 can directly regulate the anthocyanin structural gene *** our study,we revealed the important characteristics of light-independent anthocyanin synthesis in chrysanthemums and screened regulatory factors in light-depen-dent and light-independent anthocyanin synthesis *** results laid the groundwork for subsequent ana-lysis of the molecular mechanism involved in the light-independent synthesis of anthocyanins in chrysanthemums.

关键词： Chrysanthemum non-photosensitive transcriptome anthocyanin biosynthesis