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Journal of Forestry Research 2022年第4期33卷 1233-1245页

作者： chaoxia lu Chen Zhao Jing Liu Kailun Li Baoshan Wang Min Chen Shandong Provincial Key Laboratory of Plant Stress Research College of Life ScienceShandong Normal UniversityJi’nan 250014People’s Republic of China Shandong Provincial Key Laboratory of Crop Genetic Improvement Ecology and PhysiologyShandong Academy of Agricultural SciencesJi’nan 250100People’s Republic of China

Forest degradation is a worldwide problem,although its causes vary due to geographical and climatic differences and man-made causes.In recent years,the Robinia pseudoacacia forest in the Yellow River Delta has suffered severe degradation.The causative mechanisms were investigated in the field over two years,and the results show that increased forest degradation was reflected by increased tree mortality,high leaf and soil sodium salt levels and groundwater depth.Average tree diameters decreased,and leaf chlorophyll and soil microbial contents decreased.Redundancy discriminate analysis(RDA)showed that degradation of the forest was correlated positively with soil salt content,but negatively with groundwater depth.Correlation analysis showed that 0.79%–0.95%soil salt content and above 1.20 m groundwater depth caused the death of R.pseudoacacia trees due to localized anthropogenic economic activities,such as rice farming,that disrupted the original water–salt balance.Measures are recommended to prevent further degradation and restore degraded forests.

关键词： Forest degradation Groundwater depth Robinia pseudoacacia forest Soil salt content The Yellow River Delta

The genome of the recretohalophyte Limonium bicolor provides insights into salt gland development and salinity adaptation during terrestrial evolution

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Molecular Plant 2022年第6期15卷 1024-1044页

作者： Fang Yuan Xi Wang Boqing Zhao Xiaojing Xu Miao Shi Bingying Leng Xinxiu Dong chaoxia lu Zhongtao Feng Jianrong Guo Guoliang Han Haikuan Zhang Jianwei Huang Min Chen Bao-Shan Wang Shandong Provincial Key Laboratory of Plant Stress College of Life SciencesShandong Normal UniversityJi’nanShandongChina Berry Genomics Corporation BeijingChina

Halophytes have evolved specialized strategies to cope with high salinity.The extreme halophyte sea lavender(Limonium bicolor)lacks trichomes but possesses salt glands on its epidermis that can excrete harmful ions,such as sodium,to avoid salt damage.Here,we report a high-quality,2.92-Gb,chromosome-scale L.bicolor genome assembly based on a combination of Illumina short reads,single-molecule,real-time long reads,chromosome conformation capture(Hi-C)data,and Bionano genome maps,greatly enriching the genomic information on recretohalophytes with multicellular salt glands.Although the L.bicolor genome contains genes that show similarity to trichome fate genes from Arabidopsis thaliana,it lacks homologs of the decision fate genes GLABRA3,ENHANCER OF GLABRA3,GLABRA2,TRANSPARENT TESTA GLABRA2,and SIAMESE,providing a molecular explanation for the absence of trichomes in this species.We identified key genes(LbHLH and LbTTG1)controlling salt gland development among classical trichome homologous genes and confirmed their roles by showing that their mutations markedly disrupted salt gland initiation,salt secretion,and salt tolerance,thus offering genetic support for the long-standing hypothesis that salt glands and trichomes may share a common origin.In addition,a whole-genome duplication event occurred in the L.bicolor genome after its divergence from Tartary buckwheat and may have contributed to its adaptation to high salinity.The L.bicolor genome resource and genetic evidence reported in this study provide profound insights into plant salt tolerance mechanisms that may facilitate the engineering of salt-tolerant crops.

关键词： development evolution genome Limonium bicolor salinity adaptation salt gland

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression

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Frontiers of Medicine 2020年第3期14卷 305-317页

作者： Jun Yang Lianqing Wang Yingzhi Huang Keqiang Liu chaoxia lu Nuo Si Rongrong Wang Yaping Liu Xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing 100005China Center of Translational Medicine Central Hospital of ZiboShandong UniversityZibo 255036China

Familial acne inversa (AI) is an autoinflammatory disorder that affects hair follicles and is caused by loss-of-function mutations in y-secretase component genes.We and other researchers showed that nicastrin (NCSTN) is the most frequently mutated gene in familial AI.In this study,we generated a keratin 5-Cre-driven epidermis-specific Ncstn conditional knockout mutant in mice.We determined that this mutant recapitulated the major phenotypes of AI,including hyperkeratosis of hair follicles and inflammation.In Ncstnflox/flox;K5-Cre mice,the IL-36a expression level markedly increased starting from postnatal day 0 (P0),and this increase occurred much earlier than those of TNF-α,IL-23A,IL-1 3,and TLR4.RNA-Seq analysis indicated that Sprr2d,a member of the small proline-rich protein 2 family,in the skin tissues of the Ncstnflox/flox,;K5-Cre mice was also upregulated on P0.Quantitative reverse-transcription polymerase chain reaction showed that other Sprr2 genes had a similar expression pattern.Our findings suggested that IL-36a might be a key inflammatory cytokine in the pathophysiology of AI and implicate malfunction of the skin barrier in the pathogenesis of AI.

关键词： acne inversa mouse model interleukin 1 family member 6 small proline rich protein 2D key inflammatory cytokine

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

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Science China(Life Sciences) 2019年第12期62卷 1630-1637页

作者： Jiacheng Li chaoxia lu Wei Wu Yaping Liu Rongrong Wang Nuo Si Xiaolu Meng Shuyang Zhang Xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Science&Peking Union Medical CollegeBeijing 100005China Department of Cardiology Peking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing 100730China Laboratory of Clinical Genetics Peking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing 100730China

Marfan syndrome(MFS) is a systemic connective tissue disease principally affecting the ocular, skeletal and cardiovascular systems. This autosomal dominant disorder carries a prevalence of 1:3,000 to 1:5,000. This study aims to define the mutational spectrum of MFS related genes in Chinese patients and to establish genotype-phenotype correlations in MFS. Panel-based targeted next-generation sequencing was used to analyze the FBN1, TGFBR1 and TGFBR2 genes in 123 unrelated Chinese individuals with MFS or a related disease. Genotype-phenotype correlation analyses were performed in mutation-positive patients. The results showed that 97 cases/families(78.9%;97/123) harbor at least one(likely) pathogenic mutation, most of which were in FBN1;four patients had TGFBR1/2 mutations;and one patient harbored a SMAD3 mutation. Three patients had two FBN1 mutations, and all patients showed classical MFS phenotypes. Patients with a dominant negative-FBN1 mutation had a higher prevalence of ectopia lentis(EL). Patients carrying a haploinsufficiency-FBN1 mutation tended to have aortic dissection without EL. This study extends the spectrum of genetic backgrounds of MFS and enriches our knowledge of genotype-phenotype correlations.

关键词： Marfan syndrome FBN1 mutation next-generation sequencing genotype-phenotype correlations

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

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中国循环杂志 2018年第S1期33卷 123-124页

作者： Peng Fan Xueqi Dong Di Zhu Kunqi Yang Keqiang Liu Di Zhang Ying Zhang Xu Meng Huiqiong Tan Litian Yu Kefei Dou Yaxin Liu chaoxia lu Xue Zhang Xianliang Zhou National Center for Cardiovascular Diseases Fuwai HospitalCAMS and PUMCBeijingChina McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesCAMS and PUMCBeijingChina

Background and Objective Desminopathy is a largely heterogeneous group of conditions involving inherited or sporadic myofibrillar myopathy.In terms of its mode of inheritance,the autosomal dominant form is predominant.Desmin gene(DES)mutations play a critical role among the pathogenic inherited factors associated with desminopathy.Desminopathy involves various phenotypes,mainly including different cardiomyopathies,skeletal myopathy and arrhythmia.The purposes of this study are characterization of a novel phenotype and identification of a DES splicing mutation in a Chinese family with desminnopathy.

关键词： Chinese family with desminopathy novel phenotype DES

A novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene caused Liddle syndrome

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中国循环杂志 2018年第S1期33卷 162-162页

作者： Peng Fan chaoxia lu Di Zhang Kunqi Yang Peipei lu Ying Zhang Xu Meng Yaxin Liu Xue Zhang Xianliang Zhou Department of Cardiology National Center for Cardiovascular DiseasesFuwai HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina State Key Laboratory of Medical Molecular Biology Institute of Basic Medical SciencesChinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijingChina

Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmatory evidence of the diagnosis of Liddle syndrome.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and hypokalemia and 31 additional relatives were all sequenced for mutations in exon 13 of theβ-ENaC andγ-ENaC genes,using amplification by polymerase chain reaction and direct DNA sequencing.

关键词： frameshift mutation the epithelial sodium channel gene Liddle syndrome

温针灸联合早期部分负重训练对跟骨骨折患者关节活动度及足踝功能的影响

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反射疗法与康复医学 2023年第7期4卷 41-44页

作者：逯朝霞柴志霞济南市市中区人民医院针灸理疗室山东济南250001 北京市东直门医院骨科北京100000

目的探讨温针灸联合早期部分负重训练在跟骨骨折(CF)患者中的应用效果.方法选择2020年1月—2022年1月济南市市中区人民医院收治的103例CF患者为研究对象,按随机数字表法分为两组,对照组53例,观察组50例.两组均行手术治疗,术后行常规康... 详细信息

目的探讨温针灸联合早期部分负重训练在跟骨骨折(CF)患者中的应用效果.方法选择2020年1月—2022年1月济南市市中区人民医院收治的103例CF患者为研究对象,按随机数字表法分为两组,对照组53例,观察组50例.两组均行手术治疗,术后行常规康复锻炼.对照组实施早期部分负重训练,观察组在对照组基础上联合温针灸治疗,均持续随访至术后3个月.对比两组关节活动度、足踝功能、炎性因子及并发症发生情况.结果术后3个月,观察组的背伸、跖屈活动度分别为(25.17±3.49).、(43.17±5.02).,均大于对照组的(20.26±3.33).、(35.36±4.36).,组间差异有统计学意义(P<0.05).术后3个月,观察组的美国矫形外科足踝协会踝-后足评分系统评分为(89.96±8.20)分,高于对照组的(82.86±7.14)分,差异有统计学意义(P<0.05).术后3个月,观察组的肿瘤坏死因子-α、白细胞介素-1β及白细胞介素-6水平分别为(25.26±4.78)mmol/L、(20.23±4.17)mmol/L、(18.60±4.11)mmol/L,均低于对照组的(30.36±5.14)mmol/L、(25.21±4.65)mmol/L、(22.34±5.31)mmol/L,组间差异有统计学意义(P<0.05).观察组并发症发生率4.00%低于对照组的15.09%,差异有统计学意义(P<0.05).结论温针灸联合早期部分负重训练能够增加CF患者关节活动度,抑制机体炎症反应,促进足踝功能恢复,减少并发症的发生.

关键词：跟骨骨折温针灸早期部分负重训练关节活动度足踝功能并发症

补肾活血汤联合针刺治疗子宫动脉阻力增高先兆流产患者的疗效分析

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当代医学 2023年第25期29卷 36-39页

作者：卢朝霞章慧琴刘玫鸰江西省中西医结合医院妇产科江西南昌330000

目的分析补肾活血汤联合针刺治疗子宫动脉阻力(UAR)增高先兆流产(Tab)患者的疗效。方法选取2021年9—12月80例因UAR增高Tab入住江西省中西医结合医院的患者作为研究对象,根据治疗方式分为参照组(n=39)与中医组(n=41)。参照组给予常规西... 详细信息

目的分析补肾活血汤联合针刺治疗子宫动脉阻力(UAR)增高先兆流产(Tab)患者的疗效。方法选取2021年9—12月80例因UAR增高Tab入住江西省中西医结合医院的患者作为研究对象,根据治疗方式分为参照组(n=39)与中医组(n=41)。参照组给予常规西医治疗,中医组给予补肾活血汤联合针刺治疗。比较两组治疗疗效、治疗前后子宫动脉血流指标、不良反应情况。结果中医组治疗总有效率为87.8%,高于参照组的64.10%,差异有统计学意义(P<0.05)。治疗后,两组脐动脉舒张压血流速度高低比值(S/D)、搏动指数(PI)、阻力指数(RI)均低于治疗前,且中医组低于参照组,差异有统计学意义(P<0.05)。治疗后,中医组中医症状积分低于参照组,差异有统计学意义(P<0.05)。中医组不良反应发生率低于参照组,差异有统计学意义(P<0.05)。结论与常规西医治疗比较,补肾活血汤联合针刺治疗UAR增高Tab可提升疗效,降低患者UAR,促进胚胎正常发育,且安全性较高。

关键词：先兆流产子宫动脉血流补肾活血汤针刺疗效

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银杏叶提取物对糖尿病大鼠血管功能的影响

中药材 2005年第8期28卷 690-693页

作者：叶春玲卢超霞庄岚郭国庆熊爱华暨南大学药学院药理教研室广州510632 暨南大学医学院解剖学教研室广州510632

目的探讨银杏叶提取物对高糖高脂诱导的Ⅱ型糖尿病大鼠血管张力变化的影响及可能的机制。方法将大鼠随机分为正常对照组(Control)、糖尿病组(DM)、银杏叶提取物高剂量(H)及低剂量(L)组,灌胃5周后检测血清中晚期糖化终产物(AGEs)、血脂... 详细信息

目的探讨银杏叶提取物对高糖高脂诱导的Ⅱ型糖尿病大鼠血管张力变化的影响及可能的机制。方法将大鼠随机分为正常对照组(Control)、糖尿病组(DM)、银杏叶提取物高剂量(H)及低剂量(L)组,灌胃5周后检测血清中晚期糖化终产物(AGEs)、血脂的含量和肠系膜上动脉张力变化。结果H组甘油三酯、胆固醇、AGEs含量明显比DM组降低,高钾激动下,DM组血管的维持相下降明显;去内皮血管苯肾上腺素(PE)激动引起的收缩PD2DM组减少,血管顺应性有下降的趋势。尽管L组变化不明显,但H组对高钾(下降率22.52±5.48%vsDM44.19±11.03%,P<0.05)、PE(PD26.15±0.22vsDM6.62±0.13,P<0.05)激动的反应明显优于DM组,血管功能学改善明显。结论银杏叶提取物能降低糖尿病大鼠血清甘油三酯、胆固醇、AGEs含量,减少自由基对血管的损伤,从而改善血管功能病变。

关键词：银杏叶提取物糖尿病大鼠血管晚期糖基化终产物张力 Ⅱ型糖尿病大鼠血管功能血清甘油三酯晚期糖化终产物

Gross deletion of different domains of Fibrillin-1 result in variable phenotype of Marfan syndrome

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Gross deletion of different domains of Fibrillin-1 result in...