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Prader-Willi Syndrome:16-Year Experience in Hong Kong

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Journal of Genetics and Genomics 2012年第4期39卷 191-194页

作者： Ivan f.m. Lo Ho ming Luk luksite@*** tony m.f. tong Kent K.S. Lai Daniel H.C. Chan Albert C.f. Lam David K.H. Chan Edgar W.L. Hau Connie O.Y. fung Stephen T.S. Lam Clin Genet Serv Dept Hlth Kowloon Hong Kong Peoples R China

Prader-Willi syndrome （PWS） is an important, well-recognized syndromic form of neurodevelopmental disorder. The incidence is about 1 in 15,000-25,000 live births, and it affects both males and females （Vogels et al... 详细信息

关键词： PWS Prader-Willi Syndrome

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome

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Chinese medical Journal 2005年第18期118卷 1499-1506页

作者： tony m.f. tong Edgar W.L. Hau Ivan f.m. Lo Daniel H.C. Chan Stephen T.S. Lam Clinical Genetic Service Department of Health Hong Kong SAR China Clinical Genetic Service Department of Health Hong Kong SAR China Clinical Genetic Service Department of Health Hong Kong SAR China Clinical Genetic Service Department of Health Hong Kong SAR China Clinical Genetic Service Department of Health Hong Kong SAR China

Background Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD 1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. methods Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing. Results NSD1 gene mutations were detected in 26 （72%） Sotos patients. microdeletion was found in only 3 patients, while the other 23 had point mutations （6 frameshift, 8 nonsense, 2 spice site, and 7 missense）. Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome. Conclusions most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn.

关键词： Sotos syndrome·Weaver syndrome·NSD1 gene mutation

Assessment of the piroxicam-incited model of synchronized colitis in T-cell receptor alpha chain-deficient mice

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Animal models and Experimental medicine 2024年第4期7卷 533-543页

作者： maximo E.Lange Danisa m.Bescucci Valerie f.Boras tony montina G.Douglas Inglis douglas inglis 11 lethbridge research and development centre agriculture and agri-food canadalethbridgealbertacanada alberta health services chinook regional hospitallethbridgealbertacanada department of chemistry and biochemistry university of lethbridgelethbridgealbertacanada southern alberta genome sciences centre university of lethbridgelethbridgealbertacanada

Background:A multitude of mouse models are utilized to emulate and study intestinal inflammation.T-cell receptor alpha chain(TCRα)-deficient mice are used as a model of spontaneous colitis that has similarities with human ulcerative ***,colitis is triggered late in the life of the mouse(age:4-5 months),and inflammation does not develop at the same time in different mice.A previously conducted study reported that the administration of the drug piroxicam triggered predictable and early colitis in TCRα-deficient mice at the age of 6-8 ***,a detailed characterization of ensuing inflammation was not ***:We conducted an in-depth examination of piroxicam-triggered colitis in TCRα-deficient mice,with emphasis on spatial histopathologic changes and analysis of expression of inflammatory ***,we tested amelioration of colitis with ***:We confirmed that piroxicam induced a time-prescribed colitis and did so in the proximal colon as well as the cecum of TCRα-deficient *** adminis-tration was observed to induce epithelial hyperplasia,goblet cell loss,and leukocyte infiltration with occasional ulceration.A Swiss roll technique was used to examine the colon and cecum in its ***,we observed that inflammation was mul-tifocal segmental,with areas of tissue damage in between healthy *** addition,we observed variability in the severity of inflammation among replicate animals and treatments,and that the administration of dexamethasone only partially ameliorated inflammation in the proximal ***:Piroxicam consistently induced multifocal segmental colitis in the proxi-mal colon and cecum,although the degree of inflammation was reduced in the ***,spatial variability in inflammation in the large intestine and the inter-replicate variation in the severity of inflammation must be taken into consideration when utilizing this murine model of synchronized colitis.

关键词： colon dexamethasone histology induction inflammation knockout

Acetyl coenzyme A carboxylase modulates lipogenesis and sugar homeostasis in Blattella germanica

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Insect Science 2024年第2期31卷 387-404页

作者： Xiaojin Pei Tiantian Bai Yuan Luo Zhanfeng Zhang Sheng Li Yongliang fan tong-Xian Liu Guangdong Provincial Key Laboratory of Insect Developmental Biology and Applied Technology and Institute of Insect Science and Technology School of Life SciencesSouth China Normal UniversityGuangzhouChina State Key Laboratory of Crop Stress Biology for Arid Areas and Key Laboratory of Integrated Pest management on Crops in Northwestern Loess Plateau Ministry of AgricultureNorthwest A&F UniversityYanglingShaanxiChina Guangmeiyuan R&D Center Guangdong Provincial Key Laboratory of Insect Developmental Biology and Applied TechnologySouth China Normal UniversityMeizhouGuangdong ProvinceChina Institute of Entomology Guizhou UniversityGuiyangChina

Lipid and sugar homeostasis is critical for insect development and *** this study,we characterized an acetyl coenzyme A carboxylase gene in Blattella germanica(BgACC)that is involved in both lipogenesis and sugar *** found that BgACC was dominantly expressed in the fat body and integument,and was significantly upregulated after *** of BgACC in 5th-instar nymphs did not affect their normal molting to the next nymphal stage,but it caused a lethal phenotype during adult ***-RNA interference(RNAi)significantly downregulated total free fatty acid(ffA)and triacylglycerol(TAG)levels,and also caused a significant decrease of cuticular hydrocarbons(CHCs).Repression of BgACC in adult females affected the development of oocytes and resulted in sterile females,but BgACC-RNAi did not affect the reproductive ability of ***,knockdown of BgACC also changed the expression of insulin-like peptide genes(BglLPs),which mimicked a physiological state of high sugar *** addition,BgACC was upregulated when *** were fed on a high sucrose diet,and repression of BgACC upregulated the expression of the glycogen synthase gene(BgGlyS).moreover,BgACC-RNAi increased the circulating sugar levels and glycogen storage,and a longevity assay suggested that BgACC was important for the survival of *** under conditions of high sucrose *** results confirm that BgACC is involved in multiple lipid biogenesis and sugar homeostasis processes,which further modulates insect reproduction and sugar *** study benefits our understanding of the crosstalk between lipid and sugar metabolism.

关键词： acetyl-CoA carboxylase German cockroach lipid biosynthesis sugar tolerance

machine learning solution for regional landslide susceptibility based on fault zone division strategy

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Journal of mountain Science 2024年第5期21卷 1745-1760页

作者： WANG Yunhao WANG Luqi LIU Songlin SUN Weixin LIU Pengfei ZHU Lin YANG Wenyu GUO tong School of Civil Engineering Chongqing UniversityChongqing 400045China Key Laboratory of New Technology for Construction of Cities in mountain Area Chongqing UniversityMinistry of EducationChongqing 400045China National Joint Engineering Research Center of Geohazards Prevention in the Reservoir Areas Chongqing UniversityChongqing 400045China Institute of Geological Environment monitoring Chongqing 401147China Chongqing 205 Geological Team Chongqing 401121China

Landslide susceptibility assessment is an essential tool for disaster prevention and management. In areas with multiple fault zones, the impact of fault zone on slope stability cannot be disregarded. This study performed qualitative analysis of fault zones and proposed a zoning method to assess the landslide susceptibility in Chengkou County, Chongqing municipality, China. The region within a distance of 1 km.f.om the faults was designated as sub-zone A, while the remaining area was labeled as sub-zone B. To accomplish the assessment, a dataset comprising 388 historical landslides and 388 non-landslide points was used to train the random.f.rest model. 10-fold cross-validation was utilized to select the training and testing datasets for the model. The results of the models were analyzed and discussed, with a focus on model performance and prediction uncertainty. By implementing the proposed division strategy based on fault zone, the accuracy, precision, recall, f-score, and AUC of both two sub-zones surpassed those of the whole region. In comparison to the results obtained for the whole region, sub-zone B exhibited an increase in AUC by 6.15%, while sub-zone A demonstrated a corresponding increase of 1.66%. moreover, the results of 100 random realizations indicated that the division strategy has little effect on the prediction uncertainty. This study introduces a novel approach to enhance the prediction accuracy of the landslide susceptibility mapping model in areas with multiple fault zones.

关键词： Landslide susceptibility mapping fault division strategy Random.f.rest GIS

Identification and characterization of genes related to m^(6)A modification in kiwifruit using RNA-seq and ATAC-seq

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Horticultural Plant Journal 2024年第5期10卷 1121-1133页

作者： Xiaoli Hu tong Li Changbin Xu Yanna Xu Congjun You Xinyi Li Jinli Gong Xiaolong Li Xuepeng Sun Collaborative Innovation Center for Efficient and Green Production of Agriculture in mountainous Areas of Zhejiang Province Key Laboratory of Quality and Safety Control for Subtropical Fruit and VegetableMinistry of Agriculture and Rural AffairsCollege of Horticulture ScienceZhejiang A&F UniversityHangzhouZhejiang 311300China

N6-methyladenosine(m^(6)A)RNA modification is a conserved mechanism that regulates the fate of RNA across eukaryotic *** its significance,a comprehensive analysis of m^(6)A-related genes in non-model plants,such as kiwifruit,is ***,we identified 36 m^(6)A-related genes in the kiwifruit genome according to homology and phylogenetic *** performed bioinformatics and evolutionary analyses of the writer,eraser,and reader families of m^(6)A *** of public RNA-seq data collected from samples under various biotic and abiotic stresses indicated that most m^(6)A-related genes were remarkably expressed under different *** construction of gene co-expression networks,we found significant correlations between several m^(6)A-related genes and transcription factors(Tfs)as well as receptor-like genes during the development and ripening of ***,we performed ATAC-seq assays on diverse kiwifruit tissues to investigate the regulatory mechanisms of m^(6)A-related *** identified 10 common open chromatin regions that were present in at least two tissues,and these regions might serve as potential binding sites for mADS protein,C2H2 protein,and other predicted *** study offers comprehensive insights into the gene family of m^(6)A-related components in kiwifruit,which will lay foundation for exploring mechanisms of post-transcriptional regulation involved in development and adaptation of kiwifruit.

关键词： Kiwifruit N^(6)-methyladenosine Phylogenetic analysis cis-element Co-expression network

Generation of polarized electron beams through self-injection in the interaction of a laser with a pre-polarized plasma

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High Power Laser Science and Engineering 2024年第3期12卷 62-68页

作者： L.R.Yin X.f.Li Y.J.Gu N.Cao Q.Kong m.Büscher S.m.Weng m.Chen Z.m.Sheng Key Laboratory of Nuclear Physics and Ion-beam Application(moE) Institute of Modern PhysicsDepartment of Nuclear Science and TechnologyFudan UniversityShanghaiChina State Key Laboratory of High field Laser Physics Shanghai Institute of Optics and Fine MechanicsChinese Academy of SciencesShanghaiChina SANKEN(Institute of Scientific and Industrial Research) Osaka UniversityOsakaJapan Sichuan Research Institute Shanghai Jiao Tong UniversityChengduChina Peter Grünberg Institut(PGI-6) Forschungszentrum JülichJülichGermany Institut für Laser-und Plasmaphysik Heinrich-Heine-Universität DüsseldorfDüsseldorfGermany Key Laboratory for Laser Plasmas(moE) School of Physics and AstronomyShanghai Jiao Tong UniversityShanghaiChina Collaborative Innovation Center of IfSA Shanghai Jiao Tong UniversityShanghaiChina Tsung-Dao Lee Institute Shanghai Jiao Tong UniversityShanghaiChina

Polarized electron beam production via laser wakefield acceleration in pre-polarized plasma is investigated by particlein-cell *** evolution of the electron beam polarization is studied based on the Thomas±Bargmann±michel±Telegdi equation for the transverse and longitudinal self-injection,and the depolarization process is found to be influenced by the injection *** the case of transverse self-injection,as found typically in the bubble regime,the spin precession of the accelerated electrons is mainly influenced by the ***,in the case of longitudinal injection in the quasi-1D regime(for example,*** et al.,***.110,135002(2013)),the direction of electron spin oscillates in the laser *** the electrons move around the laser axis,the net influence of the laser field is nearly zero and the contribution of the wakefield can be ***,an ultra-short electron beam with polarization of 99%can be obtained using longitudinal self-injection.

关键词： laser wakefield acceleration longitudinal self-injection particle-in-cell simulation polarized electron beam

fast efficient photon deceleration in plasmas by using two laser pulses at different frequencies

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matter and Radiation at Extremes 2024年第3期9卷 11-18页

作者： Y.X.Wang X.L.Zhu S.m.Weng P.Li X.f.Li H.Ai H.R.Pan Z.m.Sheng Key Laboratory for Laser Plasmas(moe) School of Physics and AstronomyShanghai Jiao Tong UniversityShanghai 200240China Collaborative Innovation Center of IfSA Shanghai Jiao Tong UniversityShanghai 200240China Research Center of Laser fusion of China Academy of Engineering Physics MianyangSichuan 621900China State key Laboratory of High field Laser Physics Shanghai Institute of Optics and Fine MechanicsChinese Academy of SciencesShanghai 201800China Tsung-dao Lee Institute Shanghai Jiao Tong UniversityShanghai 200240China

The generation of ultrashort high-power light sources in the mid-infrared(mid-IR)to terahertz(THz)range is of interest for applications in a number of fields,from.f.ndamental research to biology and *** conventional laser technology,photon deceleration in plasma wakes provides an alternative approach to the generation of ultrashort mid-IR or THz ***,we present a photon deceleration scheme for the efficient generation of ultrashort mid-IR or THz pulses by using an intense driver laser pulse with a relatively short wavelength and a signal laser pulse with a relatively long *** signal pulse trails the driver pulse with an appropriate time delay such that it sits at the front of the second wake bubble that is driven by the driver *** to its relatively long wavelength,the signal pulse will be subjected to a large gradient of the refractive index in the plasma wake ***,the photon deceleration in the plasma wake becomes faster and more efficient for signal pulses with longer *** greatly enhances the capacity and efficiency of photon deceleration in the generation of ultrashort high-power light sources in the long-wavelength IR and THz spectral ranges.

关键词： laser ultrashort photon

Integrative analysis of the transcriptome and metabolome reveals the importance of hepatokine fGf21 in liver aging

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Genes & Diseases 2024年第5期11卷 407-427页

作者： Wenchao Wang Junjie Qian mingge Shang Yiting Qiao Jiacheng Huang Xinxin Gao Zhou Ye Xinyu tong Kangdi Xu Xiang Li Zhengtao Liu Lin Zhou Shusen Zheng Division of Hepatobiliary and Pancreatic Surgery Department of SurgeryFirst Affiliated HospitalSchool of MedicineZhejiang UniversityHangzhouZhejiang 310003China NHC Key Laboratory of Combined multi-organ Transplantation HangzhouZhejiang 310003China Key Laboratory of the Diagnosis and Treatment of Organ Transplantation Research Unit of Collaborative Diagnosis and Treatment for Hepatobiliary and Pancreatic CancerChinese Academy of Medical Sciences(2019RU019)HangzhouZhejiang 310003China Key Laboratory of Organ Transplantation Research Center for Diagnosis and Treatment of Hepatobiliary DiseasesHangzhouZhejiang 310003China Shulan International medical College Zhejiang Shuren UniversityHangzhouZhejiang 310015China Shulan(Hangzhou)Hospital Affiliated to Zhejiang Shuren University Shulan International medical College HangzhouZhejiang 310000China

Aging is a contributor to liver ***,the concept of liver aging has become prominent and has attracted considerable interest,but its underlying mechanism remains poorly *** our study,the internal mechanism of liver aging was explored via multi-omics analysis and molecular experiments to support future targeted *** aged rat liver model was established with D-galactose,and two other senescent hepatocyte models were established by treating HepG2 cells with D-galactose and *** then performed transcriptomic and metabolomic assays of the aged liver model and transcriptome analyses of the senescent hepatocyte *** livers,genes related to peroxisomes,fatty acid elongation,and fatty acid degradation exhibited down-regulated expression with aging,and the hepatokine fgf21 expression was positively correlated with the down-regulation of these *** senescent hepatocytes,similar to the results found in aged livers,fGf21 expression was also ***,the expressions of cell cycle-related genes were significantly down-regulated,and the down-regulated gene E2f8 was the key cell cycle-regulating transcription *** then validated that fGf21 overexpression can protect against liver aging and that fGf21 can attenuate the declines in the antioxidant and regenerative capacities in the aging *** successfully validated the results from cellular and animal experiments using human liver and blood *** study indicated that fGf21 is an important target for inhibiting liver aging and suggested that pharmacological prevention of the reduction in fGf21 expression due to aging may be used to treat liver aging-related diseases.

关键词： Antioxidant capability fGf21 Liver aging Liver regeneration multiomics analysis