检索结果-南通市图书馆

Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy(DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2019年第9期20卷 753-771页

作者： Yan-mei YANG Kai YAN Bei LIU Min CHEN Li-ya WANG Ying-zhi HUANG ye-qing qian Yi-xi SUN Hong-ge LI Min-yue DONG Department of Reproductive Genetics Women's HospitalSchool of MedicineZhejiang UniversityHangzhou 310006China Key Laboratory of Reproductive Genetics(Zhejiang University) Ministry of EducationHangzhou 310006China Key Laboratory of Women's Reproductive Health of Zhejiang Province Hangzhou 310006China

Duchenne muscular dystrophy(DMD)and Becker muscular dystrophy(BMD)are caused by mutations in the DMD *** aim of this study is to identify pathogenic DMD variants in probands and reduce the risk of recurrence of the disease in affected *** in 100 unrelated DMD/BMD patients were detected by multiplex ligation-dependent probe amplification(MLPA)and next-generation sequencing(NGS).Pathogenic variants in DMD were successfully identified in all cases,and 11 of them were *** most common mutations were intragenic deletions(69%),with two hotspots located in the 5'end(exons 2–19)and the central of the DMD gene(exons 45–55),while point mutations were observed in 22%***,c.1149+1G>A and c.1150?2A>G were confirmed by hybrid minigene splicing assay(HMSA).This two splice site mutations would lead to two aberrant DMD isoforms which give rise to severely truncated ***,the clinical use of MLPA,NGS,and HMSA is an effective strategy to identify ***,eight embryos were terminated pregnancies according to prenatal diagnosis and a healthy boy was successfully delivered by preimplantation genetic diagnosis(PGD).Early and accurate genetic diagnosis is essential for prenatal diagnosis/PGD to reduce the risk of recurrence of DMD in affected families.

关键词： Dystrophin gene Variation Genetic diagnosis Splice site mutation Hybrid minigene splicing assay

维普期刊数据库

Basonuclin 1 deficiency causes testicular premature aging: BNC1 cooperates with TAF7L to regulate spermatogenesis

在线全文

学校读者我要写书评

暂无评论

Journal of Molecular Cell Biology 2020年第1期12卷 71-83页

作者： Jing-Yi Li Yi-Feng Liu Hai-Yan Xu Jun-Yu Zhang Ping-Ping Lv Miao-E Liu Yan-Yun Ying ye-qing qian Kun Li Cheng Li Yun Huang Gu-Feng Xu Guo-Lian Ding Yu-Chan Mao Chen-Ming Xu Xin-Mei Liu Jian-Zhong Sheng Dan Zhang He-Feng Huang Key Laboratory of Reproductive Genetics(Ministry of Education)and Department of Reproductive Endocrinology Women's HospitalZhejiang University School of MedicineHangzhou 310006China International Peace Maternal and Child Health Hospital Shanghai Jiao Tong UniversityShanghai 200030China Department of Pathology&Pathophysiology Zhejiang University School of MedicineHangzhou 310000China

Basonuclin(BNC1)is expressed primarily in proliferative keratinocytes and gametogenic ***,its roles in spermatogenesis and testicular aging were not *** we discovered a heterozygous BNC1 truncation mutation in a premature ovarian insufficiency *** this study,we found that male mice carrying the truncation mutation exhibited progressively fertility loss and testicular premature ***-wide expression profiling and direct binding studies(by chromatin immunoprecipitation sequencing)with BNC1 in mouse testis identified several spermatogenesis-specific gene promoters targeted by BNC1 including kelch-like family member 10(Klhl1O),testis expressed 14(Tex14)9 and spermatogenesis and centriole associated 1(Spatcl).Moreover,biochemical analysis showed that BNC1 was associated with TATA-box binding protein-associated factor 7 like(TAF7L),a germ cell-specific paralogue of the transcription factor IID subunit TAF7,both in vitro and in testis,suggesting that BNC1 might directly cooperate with TAF7L to regulate *** truncation mutation disabled nuclear translocation of the BNC1/TAF7L complex,thus,disturbing expression of related genes and leading to testicular premature ***,expressions of Y-box-binding protein 2(YBX2),outer dense fiber of sperm tails 1(ODfl),and glyceraldehyde-3-phosphate dehydrogenase,spermatogenic(GAPDHS)were significantly decreased in the testis of men with non-obstructive *** present study adds to the understanding of the physiology of male reproductive aging and the mechanism of spermatogenic failure in infertile men.

关键词： testicular aging spermatogenesis BNC1 TAF7L gene mutation

A Novel Silent Mutation of the L1CAM Gene Responsible for Hydrocephalus Identified by Whole-Exome Sequencing

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

A Novel Silent Mutation of the L1CAM Gene Responsible for Hy...

The complex roles of m^(6)A modifications in neural stem cell proliferation, differentiation, and self-renewal and implications for memory and neurodegenerative diseases

2018年浙江省医学遗传学学术年会

作者： Yi-Xi Sun Min Chen Yu-Qin Luo ye-qing qian Li-Ya Wang Min-Yue Dong Department of Reproductive Genetics Women’s HospitalSchool of MedicineZhejiang University

Objective:To explore the genetic cause of a Chinese pregnant woman reporting continuous five times pregnancies with ***:After fetal blood sampling,karyotype analysis,SNP array and whole exon sequencing were performed,RT-PCR of the mRNA from cord blood mononuclear cells (CMBCs) and pripheral blood mononuclear cells (PMBCs),subsequent sequence analysis examined the mutations in the family members.

关键词：

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Neural Regeneration Research 2025年第6期20卷 1582-1598页

作者： Yanxi Li Jing Xue Yuejia Ma Ke ye Xue Zhao Fangliang Ge Feifei Zheng Lulu Liu Xu Gao Dayong Wang qing Xia Department of Biochemistry and Molecular Biology College of Basic Medical SciencesHarbin Medical UniversityHarbinHeilongjiang ProvinceChina College of Basic Medical Sciences Harbin Medical UniversityHarbinHeilongjiang ProvinceChina Basic Medical Institute Heilongjiang Academy of Medical SciencesHarbinHeilongjiang ProvinceChina Key Laboratory of Heilongjiang Province for Genetically Modified Animals Harbin Medical UniversityHarbinHeilongjiang ProvinceChina Translational Medicine Research and Cooperation Center of Northern China Heilongjiang Academy of Medical SciencesHarbinHeilongjiang ProvinceChina Dongzhimen Hospital Beijing University of Chinese MedicineBeijingChina

N6-methyladenosine(m^(6)A), the most prevalent and conserved RNA modification in eukaryotic cells, profoundly influences virtually all aspects of mRNA metabolism. mRNA plays crucial roles in neural stem cell genesis and neural regeneration, where it is highly concentrated and actively involved in these processes. Changes in m^(6)A modification levels and the expression levels of related enzymatic proteins can lead to neurological dysfunction and contribute to the development of neurological diseases. Furthermore, the proliferation and differentiation of neural stem cells, as well as nerve regeneration, are intimately linked to memory function and neurodegenerative diseases. This paper presents a comprehensive review of the roles of m^(6)A in neural stem cell proliferation, differentiation, and self-renewal, as well as its implications in memory and neurodegenerative diseases. m^(6)A has demonstrated divergent effects on the proliferation and differentiation of neural stem cells. These observed contradictions may arise from the time-specific nature of m^(6)A and its differential impact on neural stem cells across various stages of development. Similarly, the diverse effects of m^(6)A on distinct types of memory could be attributed to the involvement of specific brain regions in memory formation and recall. Inconsistencies in m^(6)A levels across different models of neurodegenerative disease, particularly Alzheimer's disease and Parkinson's disease, suggest that these disparities are linked to variations in the affected brain regions. Notably, the opposing changes in m^(6)A levels observed in Parkinson's disease models exposed to manganese compared to normal Parkinson's disease models further underscore the complexity of m^(6)A's role in neurodegenerative processes. The roles of m^(6)A in neural stem cell proliferation, differentiation, and self-renewal, and its implications in memory and neurodegenerative diseases, appear contradictory. These inconsistencies may be a

关键词： Alzheimer's disease cell self-renewal central nervous system memory microglia nerve regeneration neurodegenerative diseases neurogenesis RNA methylation

维普期刊数据库

Exploring the interaction between the gut microbiota and cyclic adenosine monophosphate-protein kinase A signaling pathway:a potential therapeutic approach for neurodegenerative diseases

在线全文

学校读者我要写书评

暂无评论

Neural Regeneration Research 2025年第11期20卷 3095-3112页

作者： Fengcheng Deng Dan Yang Lingxi qing Yifei Chen Jilian Zou Meiling Jia qian Wang Runda Jiang Lihua Huang College of Pharmacy Chengdu University of Traditional Chinese MedicineChengduSichuan ProvinceChina State Key Laboratory of Southwestern Chinese Medicine Resources Chengdu University of Traditional Chinese MedicineChengduSichuan ProvinceChina

The interaction between the gut microbiota and cyclic adenosine monophosphate(cAMP)-protein kinase A(PKA)signaling pathway in the host's central nervous system plays a crucial role in neurological diseases and enhances communication along the gut–brain *** gut microbiota influences the cAMP-PKA signaling pathway through its metabolites,which activates the vagus nerve and modulates the immune and neuroendocrine ***,alterations in the cAMP-PKA signaling pathway can affect the composition of the gut microbiota,creating a dynamic network of microbial-host *** reciprocal regulation affects neurodevelopment,neurotransmitter control,and behavioral traits,thus playing a role in the modulation of neurological *** coordinated activity of the gut microbiota and the cAMP-PKA signaling pathway regulates processes such as amyloid-β protein aggregation,mitochondrial dysfunction,abnormal energy metabolism,microglial activation,oxidative stress,and neurotransmitter release,which collectively influence the onset and progression of neurological *** study explores the complex interplay between the gut microbiota and cAMP-PKA signaling pathway,along with its implications for potential therapeutic interventions in neurological *** pharmacological research has shown that restoring the balance between gut flora and cAMP-PKA signaling pathway may improve outcomes in neurodegenerative diseases and emotional *** can be achieved through various methods such as dietary modifications,probiotic supplements,Chinese herbal extracts,combinations of Chinese herbs,and innovative dosage *** findings suggest that regulating the gut microbiota and cAMP-PKA signaling pathway may provide valuable evidence for developing novel therapeutic approaches for neurodegenerative diseases.

关键词： cyclic adenosine monophosphate emotional disorders gut microbiota neurodegenerative diseases neurological diseases protein kinase A reciprocal regulation signaling pathway strategy therapies

维普期刊数据库

Six-fold swelling expansion microscopy assisted cell painting for high-content phenotypic screening

在线全文

学校读者我要写书评

暂无评论

Optoelectronics Letters 2025年

作者： Junfang XIE Yipeng DONG Jin WANG Zhichao DENG Jianguo TIAN qing ye Key Laboratory of Weak-Light Nonlinear Photonics， Ministry of Education， School of Physics and TEDA Applied Physics， Nankai University

Imaging-based phenotypic screening uses cellular phenotypes to describe the drug performance， which generally focuses on single cellular feature， lacking of a comprehensive characterization. Here， we propose a high content phenotypic screening method based on expansion microscopy (ExM) assisted Cell Painting， which enables multi-channel imaging with approximately 50 nm resolution. As a demonstration， we applied this method to a phenotypic screening involving five drugs. The morphological attributes of three subcellular structures were summarized to consist a “fingerprint” describing the drug effect. The proposed method can provide comprehensive and detailed clues for drug evaluation， enriching the content of phenotypic screening.

关键词：

Was non-invasive prenatal testing based on BGISEQ-500 reliable for sex chromosomal aneuploidies identification?

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Was non-invasive prenatal testing based on BGISEQ-500 reliab...

Deciphering the molecular mechanisms of Simiaowan in the treatment of hyperuricemia: in vivo and in silico approaches

2018年浙江省医学遗传学学术年会

作者： Hong-Ge Li Yu-Qin Luo ye-qing qian Min Chen Yi-Xin Sun Kai Yan Yan-Mei Yang Bei Liu Li-Ya Wang Ying-Zhi Huang Jun-Jie Hua Fan Jin Min-Yue Dong Women's Hospital School of Medicine Zhejiang University Key Laboratory of Reproductive Genetics (Zhejiang University) Ministry of Education Key Laboratory of Women's Reproductive Health of Zhejiang Province

Objective:To explore the clinical utility of non-invasive prenatal testing(NIPT) in screening for sex chromosomal aneuploidies(SCAs) using BGISEQ-500 sequencing ***:A total of 570 pregnant women who visited the Women’s Hospital School of Medicine,Zhejiang University for prenatal counseling between May 2017 to July 2017 were included in the retrospective *** pregnant women were performed amniocentesis and maternal blood samples were collected before *** was carried out using the BGISEQ-500 sequencing *** analysis of peripheral blood lymphocytes was performed using standard G-bands ***:43 out of the total 570 pregnant women tested by NIPT showed fetal sex chromosomal aneuploidies(19 of 45,XO,12 of 47,XXY,10 of 47,XXX,and 2 of 47,XYY).The following amniocentesis confirmed that 26 cases were true positive(7 of true positive 45,XO,9 of true positive 47,XXY,9 true positive of 47,XXX as well as 1 of 47,XYY) and the positive predictive value for SC A was 60.47 %.In addition,the PPV of advanced maternal age group(67.74%) was higher than that of other indication group(45.45%) and serological screening high/critical risk value group(0%).Conclusion:NIPT based on BGISEQ-500 sequencing platform for SCAs still had high false positive rates,especially for 45,*** pregnant women with fetal sex chromosomal abnormalities by NIPT,especially those with non-age relevant clinical indications,should be advised to accept invasive prenatal karyotype analysis.

关键词： Non-invasive prenatal testing(NIPT) BGISEQ-500 Combinatorial Probe-Anchor Synthesis(CPAS) DNA nano balls(DNBs) sex chromosomal aneuploidies(SCAs)

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Traditional Medicine Research 2025年第2期10卷 37-54页

作者： Yong-Chang Zeng Jun-Hong Wu Dan-Dan Xu Kang He Chang-qing Liu Li-Fei Song Zheng-Zhi Wu qian-qian Jiang Shao-Yu Liang Department of Neurology The First Affiliated Hospital of Shenzhen UniversityShenzhen 518020China Pharmaceutical Department The Affiliated TCM Hospital of Guangzhou Medical UniversityGuangzhou 510000China School of Pharmacy Guizhou University of Traditional Chinese MedicineGuiyang 550025China Guangzhou Zeli Medical Technology Co. Ltd.Guangzhou 510700China

Background:Simiaowan(SMW),a well-known traditional Chinese medicine,has been employed to treat hyperuricemia(HUA)and gout for ***,the bioactive components and underlying mechanisms have not been *** objective of this study was to identify the active components and potential mechanisms of SMW by integrating pharmacological experimentation,serum pharmacochemistry,network pharmacology and molecular ***:HUA rats modelling by high-fat/high-sugar diet and potassium oxonate/adenine oral administration were used to evaluate the pharmacodynamic effects of ***-Q-Exactive-MS/MS was employed to detect the bioactive components present in SMW-containing *** pharmacology and molecular docking were utilized to elucidate the potential targets and underlying ***:SMW effectively ameliorated HUA rats via the inhibition of uric acid(UA)production,promotion of UA excretion,improvement of lipid and glucose metabolic abnormalities,antioxidant,anti-inflammatory and anti-insulin resistance effects.A total of 73 compounds detected in SMW-containing serum were identified as potential active components,with alkaloids,flavonoids,organic acids,and terpenoids emerging as the primary active *** 203 corresponding targets were obtained as SMW anti-HUA/gout targets,which mainly participated in apoptosis,insulin resistance,TNF,PI3K-Akt,HIF-1,NF-κB,MAPK,IL-17 and TLR signaling *** docking indicated that active compounds(***,phellodendrine,quercetin,formononetin,ferulic acid)had superior binding abilities to the key targets(*** carrier family 22 member 12(URAT1),solute carrier family 22 member 6(OAT1),ATP-binding cassette sub-family G member 2(ABCG2),solute carrier family 2,facilitated glucose transporter member 9(GLUT9),xanthine dehydrogenase/oxidase(XDH),transcription factor p65(RELA),toll-like receptor 4(TLR4),prostaglandin G/H synthase 2(PTGS2),caspase-3(CASP3),insulin(INS)).Conclusion:S

关键词： hyperuricemia network pharmacology serum pharmacochemistry Simiaowan UPLC-Q-Exactive-MS/MS

Synthesis of chiral phosphine derivatives through a copper（I）-catalyzed desymmetric SNAr reaction

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Science China Chemistry 2025年

作者： Shuai Zhang Pei-Zhi Liu Yan-Bo Li Qi Zhang Jun-Zhao Xiao Yi-Fan Wang Tian-Yu Wei Jia-Wei Jiang ye Wang qian Peng Liang Yin Key Laboratory of Fluorine and Nitrogen Chemistry and Advanced Materials Shanghai Institute of Organic Chemistry University of Chinese Academy of Sciences Chinese Academy of Sciences State Key Laboratory of Elemento-Organic Chemistry and Tianjin Key Laboratory of Biosensing and Molecular Recognition College of Chemistry Frontiers Science Center for New Organic Matter Nankai University Haihe Laboratory of Sustainable Chemical Transformations

Axially chiral phosphines are a class of extremely important ligands in asymmetric catalysis. Herein, an unprecedented copper（I）-catalyzed asymmetric SNAr reaction with HP（S）R2is uncovered, which delivers a series of axially chiral phosphine derivatives in high yields with excellent enantioselectivity. Furthermore, the diastereoselective reaction with the kinetic resolution of racemic HP（S）ArR proceeds smoothly, providing the products with moderate diastereoselectivity and excellent enantioselectivity. Control experiments indicate that HP（S）Ph2is much more active than HPPh2and HP（O）Ph2as the pronucleophile in the present reaction. It is found that the SNAr reaction （the first SNAr） proceeds in a desymmetric manner, providing the desired chiral products while a continued SNAr reaction （the second SNAr） slightly occurs in a kinetic resolution manner in the present catalytic system, which enhances the ee of the desired chiral products. DFTcalculations support a concerted reaction pathway rather than a step-wise mechanism. Finally, axially chiral olefin-phosphines produced by the present method work as suitable ligands in Pdcatalyzed asymmetric allylic substitution with C-, N-, and O-nucleophiles and Rh-catalyzed asymmetric addition of arylboronic acid to benzil.

关键词：