检索结果-内蒙古大学图书馆

Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution (vol 33, pg 568, 2020)

引用

NATURE GENETICS 2020年第4期52卷 463-463页

作者： Chan-Seng-Yue, Michelle Kim, Jaeseung C. Wilson, Gavin W. Ng, Karen Figueroa, Eugenia Flores O'Kane, Grainne M. Connor, Ashton A. Denroche, Robert E. Grant, Robert C. McLeod, Jessica Wilson, Julie M. Jang, Gun Ho Zhang, Amy Liang, Sheng-Ben Borgida, Ayelet Chadwick, Dianne Kalimuthu, Sangeetha Lungu, Ilinca Bartlett, John M. S. Krzyzanowski, Paul M. Sandhu, Vandana Tiriac, Herve Froeling, Fieke E. M. Karasinska, Joanna M. Topham, James T. Renouf, Daniel J. Schaeffer, David F. Jones, Steven J. M. Marra, Marco A. Laskin, Janessa Chetty, Runjan Stein, Lincoln D. Zogopoulos, George Haibe-Kains, Benjamin Campbell, Peter J. Tuveson, David A. Knox, Jennifer J. Fischer, Sandra E. Gallinger, Steven Notta, Faiyaz Princess Margaret Cancer Centre Toronto Ontario Canada PanCuRx Translational Research Initiative Ontario Institute for Cancer Research Toronto Ontario Canada Genomics Technology Program Ontario Institute for Cancer Research Toronto Ontario Canada Wallace McCain Centre for Pancreatic Cancer Department of Medical Oncology Princess Margaret Centre University Health Network University of Toronto Toronto Ontario Canada Hepatobiliary/Pancreatic Surgical Oncology Program University Health Network Toronto Ontario Canada UHN Program in BioSpecimen Sciences University Health Network Toronto Ontario Canada Lunenfeld-Tanenbaum Research Institute Mount Sinai Hospital Toronto Ontario Canada Department of Pathology University Health Network and University of Toronto Toronto Ontario Canada Diagnostic Development Ontario Institute for Cancer Research Toronto Ontario Canada Cold Spring Harbor Laboratory Cold Spring Harbor NY USA Lustgarten Foundation Pancreatic Cancer Research Laboratory Cold Spring Harbor NY USA Department of Surgery and Cancer Imperial College London London UK Pancreas Centre BC Vancouver British Columbia Canada Department of Medical Oncology BC Cancer Vancouver British Columbia Canada Department of Pathology and Laboratory Medicine Vancouver General Hospital Vancouver British Columbia Canada Canada’s Michael Smith Genome Sciences Centre Vancouver British Columbia Canada Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada Bioinformatics Ontario Institute for Cancer Research Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Research Institute of the McGill University Health Centre Montreal Quebec Canada The Goodman Cancer Research Centre of McGill University Montreal Quebec Canada Department of Medical Biophysics University of Toronto Toronto Ontario Canada Department of Computer Science University of Toronto Toronto Ontario Canada Can

Pancreatic adenocarcinoma presents as a spectrum of a highly aggressive disease in patients. The basis of this disease heterogeneity has proved difficult to resolve due to poor tumor cellularity and extensive genomic instability. To address this, a dataset of whole genomes and transcriptomes was generated from purified epithelium of primary and metastatic tumors. Transcriptome analysis demonstrated that molecular subtypes are a product of a gene expression continuum driven by a mixture of intratumoral subpopulations, which was confirmed by single-cell analysis. Integrated whole-genome analysis uncovered that molecular subtypes are linked to specific copy number aberrations in genes such as mutant KRAS and GATA6. By mapping tumor genetic histories, tetraploidization emerged as a key mutational process behind these events. Taken together, these data support the premise that the constellation of genomic aberrations in the tumor gives rise to the molecular subtype, and that disease heterogeneity is due to ongoing genomic instability during progression.

关键词： Pancreatic cancer Transcriptomics

来源：评论

学校读者我要写书评

暂无评论

401P Moderate-term dimethyl fumarate treatment reduces fibrosis of skeletal and cardiac muscle in in the mdx mouse model of Duchenne muscular dystrophy

引用

Neuromuscular Disorders 2024年 43卷 104441.272-104441.272页

作者： Timpani, C. Kourakis, S. Bagaric, R. Qi, B. Ali, B. Spiesberger, G. Boyer, R. Kandhari, N. Yan, X. Stupka, N. van Putten, M. Aartsma-Rus, A. Deveson-Lucas, D. Fischer, D. Rybalka, E. Victoria University Institute for Health & Sport Melbourne Australia Australian Institute for Musculoskeletal Science Inherited and Acquired Myopathy Program St Albans Australia The University of Melbourne Department of Medicine - Western Health Melbourne Medical School St Albans Australia Monash University Monash Genomics and Bioinformatics Platform Biomedical Discovery Institute Clayton Australia Australian Institute for Musculoskeletal Science Sarcopenia Research Program St Albans Australia Leiden University Medical Center Department of Human Genetics Leiden Netherlands University Children's Hospital of Basel Division of Neuropediatric and Developmental Medicine Basel Switzerland

Duchenne muscular dystrophy (DMD), a fatal inherited neuromuscular disease, is associated with hyper-immune responsivity secondary to the intense muscle degeneration caused by primary dystrophin deficiency. Corticosteroids (e.g., prednisone (PRED)) are potent immunomodulators that have been used in standard care for decades to control this aspect. However, for many patients, the side-effect profile is significant despite prolonging ambulation, which can limit clinical utility. Other immunomodulatory drugs could have a better benefit to side-effect profile. We recently demonstrated short-term treatment with repurposed dimethyl fumarate (DMF), an alternative pharmacological immunomodulator indicated for multiple sclerosis, more selectively modulates the DMD disease program compared to PRED. Here, we aimed to evaluate the therapeutic potential of moderate-term DMF treatment in dystrophic mdx mice. Male mdx mice were gavaged daily from 3 weeks of age with either vehicle (0.5% methylcellulose; VEH), DMF (100mg/kg), PRED (5mg/kg) or combinatorial DMF+PRED until 8 weeks of age. WT controls received daily VEH gavage. Bi-weekly treadmill running was used to aggravate the mdx phenotype from 4 weeks of age. At the experimental endpoint, grip strength and motor co-ordination (rotarod) were assessed. Then mice were sacrificed, and muscle damage, fibrosis and inflammation were quantified in the quadriceps and heart using H&E, Masson's Trichrome and pan macrophage CD68+ marker immuno-/histology staining, respectively. The quadriceps transcriptome was also assessed via bulk RNA sequencing. In mdx mice, DMF was the only treatment to improve a functional index (grip strength). DMF treatment alone improved muscle quality by reducing fibrosis of the quadriceps and heart. However, at 8 weeks age, a more stable phase of murine disease, it had no effect on the unhealthy:healthy tissue ratio. In combination, DMF+PRED treatment notably increased fibrosis of quadriceps muscle. This may be as

关键词：

来源：评论

学校读者我要写书评

暂无评论

LCRMP-1 is required for spermatogenesis and stabilises spermatid F-actin organization via the PI3K-Akt pathway

Communications biology

引用

Communications biology 2023年第1期6卷 389页

作者： Jung-Hsuan Chang Chia-Hua Chou Jui-Ching Wu Keng-Mao Liao Wei-Jia Luo Wei-Lun Hsu Xuan-Ren Chen Sung-Liang Yu Szu-Hua Pan Pan-Chyr Yang Kang-Yi Su Department of Clinical Laboratory Sciences and Medical Biotechnology College of Medicine National Taiwan University Taipei Taiwan. Genome and Systems Biology Degree Program National Taiwan University and Academia Sinica Taipei Taiwan. Graduate Institute of Medical Genomics and Proteomics College of Medicine National Taiwan University Taipei Taiwan. Doctoral Degree Program of Translational Medicine National Taiwan University Taipei Taiwan. Department of Internal Medicine College of Medicine National Taiwan University Taipei Taiwan. Department of Clinical Laboratory Sciences and Medical Biotechnology College of Medicine National Taiwan University Taipei Taiwan. suky@ntu.edu.tw. Genome and Systems Biology Degree Program National Taiwan University and Academia Sinica Taipei Taiwan. suky@ntu.edu.tw. Department of Laboratory Medicine National Taiwan University Hospital Taipei Taiwan. suky@ntu.edu.tw.

Long-form collapsin response mediator protein-1 (LCRMP-1) belongs to the CRMP family which comprises brain-enriched proteins responsible for axon guidance. However, its role in spermatogenesis remains unclear. Here we find that LCRMP-1 is abundantly expressed in the testis. To characterize its physiological function, we generate LCRMP-1-deficient mice (Lcrmp-1). These mice exhibit aberrant spermiation with apoptotic spermatids, oligospermia, and accumulation of immature testicular cells, contributing to reduced fertility. In the seminiferous epithelial cycle, LCRMP-1 expression pattern varies in a stage-dependent manner. LCRMP-1 is highly expressed in spermatids during spermatogenesis and especially localized to the spermiation machinery during spermiation. Mechanistically, LCRMP-1 deficiency causes disorganized F-actin due to unbalanced signaling of F-actin dynamics through upregulated PI3K-Akt-mTOR signaling. In conclusion, LCRMP-1 maintains spermatogenesis homeostasis by modulating cytoskeleton remodeling for spermatozoa release.

关键词：

来源：评论

学校读者我要写书评

暂无评论

A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)

引用

NATURE 2021年第7846期590卷 E55-E55页

作者： Collins, Ryan L. Brand, Harrison Karczewski, Konrad J. Zhao, Xuefang Alfoldi, Jessica Francioli, Laurent C. Khera, Amit V. Lowther, Chelsea Gauthier, Laura D. Wang, Harold Watts, Nicholas A. Solomonson, Matthew O'Donnell-Luria, Anne Baumann, Alexander Munshi, Ruchi Walker, Mark Whelan, Christopher W. Huang, Yongqing Brookings, Ted Sharpe, Ted Stone, Matthew R. Valkanas, Elise Fu, Jack Tiao, Grace Laricchia, Kristen M. Ruano-Rubio, Valentin Stevens, Christine Gupta, Namrata Cusick, Caroline Margolin, Lauren Taylor, Kent D. Lin, Henry J. Rich, Stephen S. Post, Wendy S. Chen, Yii-Der Ida Rotter, Jerome I. Nusbaum, Chad Philippakis, Anthony Lander, Eric Gabriel, Stacey Neale, Benjamin M. Kathiresan, Sekar Daly, Mark J. Banks, Eric MacArthur, Daniel G. Talkowski, Michael E. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Division of Medical Sciences Harvard Medical School Boston MA USA Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Medicine Harvard Medical School Boston MA USA Data Science Platform Broad Institute of MIT and Harvard Cambridge MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Division of Cardiology Massachusetts General Hospital Boston MA USA Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University

来源：评论

学校读者我要写书评

暂无评论

In vitro susceptibilities of Stenotrophomonas maltophilia isolates to antimicrobial agents commonly used for related infections: Results from the Antimicrobial Testing Leadership and Surveillance (ATLAS) program, 2004-2020

引用

International journal of antimicrobial agents 2023年第2期62卷 106878页

作者： Yu-Lin Lee Chun-Eng Liu Wen-Chien Ko Po-Ren Hsueh Department of Internal Medicine Chung Shan Medical University Hospital Taichung Taiwan School of Medicine Chung Shan Medical University Taichung Taiwan Institute of Genomics and Bioinformatics National Chung Hsing University Taichung Taiwan. Department of Internal Medicine Changhua Christian Hospital Changhua Taiwan. Department of Medicine College of Medicine National Cheng Kung University Tainan Taiwan. Departments of Laboratory Medicine and Internal Medicine China Medical University Hospital Taichung Taiwan School of Medicine China Medical University Taichung Taiwan Ph.D Program for Aging School of Medicine China Medical University Taichung Taiwan Departments of Laboratory Medicine and Internal Medicine National Taiwan University Hospital National Taiwan University College of Medicine Taipei Taiwan. Electronic address: hsporen@***.

Stenotrophomonas maltophilia is an emerging opportunistic pathogen for which there are limited therapeutic options because of intrinsic multidrug resistance. S. maltophilia isolates were collected as part of the Antimicrobial Testing Leadership and Surveillance (ATLAS) program and minimum inhibitory concentrations (MICs) were determined using broth microdilution methods. Susceptibility was interpreted according to Clinical and Laboratory Standards Institute (CLSI) breakpoints. Isolates with tigecycline MIC ≤2 mg/L were defined as susceptible, using the United States Food and Drug Administration criteria of Enterobacterales. A total of 2330 S. maltophilia isolates were collected from 47 countries worldwide in the ATLAS program from 2004 to 2020. Most patients were hospitalized (92.3%, 2151/2330) and respiratory tract infections (47.8%, 1114/2330) were the most common source of isolates. Minocycline had the highest susceptibility rate (98.8%), followed by levofloxacin (85.0%), trimethoprim-sulfamethoxazole (TMP-SMX) (84.4%), and ceftazidime (53.7%). A total of 98.3% (2290/2330) of S. maltophilia isolates had tigecycline MIC ≤2 mg/L. Among the S. maltophilia isolates exhibiting resistance to levofloxacin and ceftazidime, 89.3% (150/168) and 97.3% (692/711), respectively, were susceptible to tigecycline. Eight countries provided more than 30 isolates and were selected for comparison. Geographical difference in antimicrobial resistance was significant for levofloxacin, minocycline, and tigecycline (all P<0.05) but not for ceftazidime (P=0.467). These in vitro data demonstrated that minocycline had a higher susceptibility rate than levofloxacin and ceftazidime, and that tigecycline could be an alternative or salvage option for the treatment of S. maltophilia infections.

关键词： Levofloxacin Minocycline Multidrug resistance Stenotrophomonas maltophilia Tigecycline

来源：评论

学校读者我要写书评

暂无评论

Genome-Wide Promoter Methylation Profiling Of Splenic Marginal Zone Lymphoma (SMZL) Identifies Two Subgroups Of Patients With Distinct Genetic and Biologic Features and Different Outcomes

引用

BLOOD 2013年第21期122卷 77-77页

作者： Arribas, Alberto J. Rinaldi, Andrea Kwee, Ivo Mensah, Afua A. Cascione, Luciano Martinez-Climent, Jose A. Oscier, David Arcaini, Luca Baldini, Luca Marasca, Roberto Thieblemont, Catherine Soulier, Jean Forconi, Francesco Zamo, Alberto Bonifacio, Massimiliano Mollejo, Manuela Facchetti, Fabio Dirnhofer, Stephan Ponzoni, Maurilio Bhagat, Govind Piris, Miguel Angel A. Gaidano, Gianluca Zucca, Emanuele Rossi, Davide Bertoni, Francesco Lymphoma & Genomics Research Program IOR-Institute of Oncology Research Bellinzona Switzerland SIB Swiss Institute of Bioinformatics Lausanne Switzerland enter for Applied Medical Research (CIMA) University of Navarra Pamplona Spain Department of Pathology Royal Bournemouth Hospital Bournemouth United Kingdom Department of Hematology Oncology Fondazione IRCCS Policlinico San Matteo & Department of Molecular Medicine University of Pavia Pavia Italy Unità di Ematologia/CTMO Università di Milano Fondazione Ospedale Maggiore Policlinico MaRe IRCCS Milano Italy Division of Hematology Department of Oncology and Hematology University of Modena and Reggio Emilia Modena Italy Service Hémato-Oncologie Hôpital Saint- Louis Université Paris Diderot Paris France Hematology laboratory Saint-Louis Hospital Paris France Cancer Sciences Unit CRUK Clinical Centre University of Southampton Southampton United Kingdom Section of Pathological Anatomy Department of Pathology and Diagnostics University of Verona Verona Italy Department of Medicine Section of Hematology University of Verona Verona Italy Department of Pathology Hospital Virgen de la Salud Toledo Spain Divisions of Pathology Spedali Civili di Brescia Brescia Italy Institute of Pathology University of Basel Basel Switzerland Department of Pathology San Raffaele Scientific Institute Milano Italy Department of Pathology & Cell Biology Columbia University Medical Center and New York Presbyterian Hospital New York NY USA

关键词：

来源：评论

学校读者我要写书评

暂无评论

Uncovering the conformational dynamics of dengue virus and its virus-like particles as novel vaccine candidates

引用

Biophysical Journal 2023年第3期122卷 508a-509a页

作者： Jan K. Marzinek Venkata Raghuvamsi Palur Gielenny Salem Fan-Chi Chen Shang-Rung Wu Peter J. Bond Day-Yu Chao Bioinformatics Institute Agency for Science Technology and Research Singapore Republic of Singapore Graduate Institute of Microbiology and Public Health College of Veterinary Medicine National Chung Hsing University Taichung City Taiwan Microbial Genomics Ph.D. Program National Chung Hsing University Taichung City Taiwan Academia Sinica Taipei Taiwan Department of Dentistry Institute of Oral Medicine National Cheng Kung University Tainan Taiwan Department of Biological Sciences National University of Singapore Singapore Republic of Singapore

来源：评论

学校读者我要写书评

暂无评论

527P Small molecule adenylosuccinic acid supports muscle metabolism in Adss1 deficient muscle phenotypes

引用

Neuromuscular Disorders 2024年 43卷 104441.703-104441.703页

作者： Rybalka, E. Kourakis, S. Yates, T. Bagaric, R. Qi, B. Ali, B. Khandari, N. Peterson, A. Yan, X. Kuang, J. Nijagal, B. Deveson-Lucas, D. Timpani, C. Victoria University Institute for Health and Sport Melbourne Australia Australian Institute for Musculoskeletal Science Inherited and Acquired Myopathies Program St Albans Australia The University of Melbourne Department of Medicine – Western Health Melbourne Medical School St Albans Australia Monash University Monash Genomics and Bioinformatics Platform Biomedical Discovery Institute Clayton Australia The University of Melbourne Metabolomics Australia Bio21 Institute Parkville Australia

Loss of purine nucleotide cycle function in skeletal muscle due to inherited gene mutation(s) or transcriptional remodelling of adenylosuccinate synthetase isoenzyme 1 (Adds1) expression, is associated with dysfunction, atrophy, and myopathy. This disease mechanism has been implicated in the pathogeneic progression of Duchenne muscular dystrophy, Huntington's disease, amyotrophic lateral sclerosis and the recently classified inborn error of metabolism, ADSS1 deficient myopathy. Using an exercise-exacerbated model of the dystrophin deficient mdx mouse with reduced Adss1 and adenylosuccinate lyase (Adsl) expression secondary to the primary gene defect effecting muscle dystrophin, we tested the hypothesis that treatment with oral small molecule adenylosuccinic acid (ASA), the biosynthetic product of Adss1 and substate of Adsl, could restore purine homeostasis by increasing substrate flux through available enzyme units. Mdx mice were treated with ASA (325mg/kg/day) or vehicle (0.5% methylcellulose) by oral gavage from 3 weeks age and exposed to bi-weekly forced treadmill running for 4 weeks to aggravate metabolic stress. At the experimental endpoint, mice were assessed for neuromuscular function (grip strength, hang time and rotarod). Fast twitch extensor digitorum brevis and slow-twitch soleus muscles were removed and subjected to fatiguing stimuli ex vivo. Immediately snap frozen quadriceps were used to study the impact of purine nucleotide cycle deficiency, and ASA's capacity to correct purine biochemistry, using multi-layered omics. The skeletal muscle metabolome and transcriptome were assessed using LS-HILIC polar metabolomic profiling and bulk RNA sequencing, respectively. In mice, ASA treatment had no effect on steady state functional parameters but improved performance of fast-twitch muscle during ex vivo fatiguing stimulation. Metabolomics revealed that ASA increased muscle bioenergetical charge via purine salvage. ASA treatment normalized upregulated mitochond

关键词：

来源：评论

学校读者我要写书评

暂无评论

Identification of Genetic Variants and Serum Metabolites Associated with Blood-derived Mitochondrial DNA Copy Number

引用

Alzheimer's & Dementia 2022年第S6期18卷

作者： Tong Tong John Farrell Congcong Zhu Zainab Khurshid Eden R. Martin William S. Bush Margaret A. Pericak-Vance Li-San Wang Gerard D. Schellenberg Jonathan L. Haines Kathryn L. Lunetta Lindsay A. Farrer Xiaoling Zhang Disease Sequencing Project Boston University School of Medicine Boston MA USA Boston University Bioinformatics Program Boston MA USA John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL USA Case Western Reserve University School of Medicine Cleveland OH USA John P. Hussman Institute for Human Genomics Miller School of Medicine University of Miami Miami FL USA University of Pennsylvania Perelman School of Medicine Philadelphia PA USA University of Pennsylvania Perelman School of Medicine Path & Lab Med Stellar Chance Philadelphia PA USA Case Western Reserve University School of Medicine Department of Population & Quantitative Health Sciences Cleveland Institute for Computational Biology Cleveland OH USA Boston University School of Public Health Boston MA USA

Background Mitochondrial DNA Copy Number (mtDNA-CN) can be used to estimate mitochondrial function and it varies across tissues and cell types. Blood-derived mtDNA-CN has been studied in aging-related diseases including Alzheimer’s Disease (AD). However, little is known about the genetic contribution to variation of blood-derived mtDNA-CN and how this variation affects the level of serum metabolites. Method We developed a fast computational pipeline to accurately estimate mtDNA-CN using whole genome sequence data from blood samples from European ancestry (EA, 2,885 AD cases and 2,777 controls), African American (AA, 1,118 AD cases and 1,725 controls), and Caribbean Hispanic (CH, 1,022 AD cases and 1,949 controls) participants of the Alzheimer’s Disease Sequencing Project (ADSP). In the combined sample and within each population group. We tested association of blood-derived mtDNA-CN with 17,569,705 variants (minor allele count≥20) genome-wide using a linear mixed effect model including covariates for age, sex, sequencing center, PCR, AD status, polygenic risk score of blood cell count, and principal components of ancestry. We also tested the associations of mtDNA-CN and levels of 175 serum metabolites in 1,521 subjects from Alzheimer’s Disease Neuroimaging Initiative. Result In the total sample, we identified genome-wide significant (GWS) associations with variants from 24 independent loci. The top-ranked SNP (rs1455130415 in NDUFS8 , (p=3.25x10 -42 ) was also GWS in EAs (p=3.96x10 -28 ) and AAs (p=2.20x10 -27 ). SNP rs997412864 (p=5.13x10 -9 ) in GCAT was found associated with mtDNA-CN in EAs, but not in other groups. Association of SNP rs1237233197 (p=1.40x10 -8 ) in NDUFS7 was specific to AAs. Measurements of two long-chain acylcarnitine, C14:2-OH (p=4.91x10 -7 ) and C18:2 (p=1.81x10 -5 ), were negatively associated with mtDNA-CN after Bonferroni correction (P<2.9x10 -4 ). Ornithine, a non-proteinogenic amino acid, was also negatively associated with mtDNA-CN (p=2

关键词：

来源：评论

学校读者我要写书评

暂无评论

An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolism

引用

Clinica chimica acta;international journal of clinical chemistry 2023年 540卷 117230页

作者： San-Yuan Wang Te-I Weng Ju-Yu Chen Ni-Chung Lee Kun-Chen Lee Mei-Ling Lai Yin-Hsiu Chien Wuh-Liang Hwu Guan-Yuan Chen Master Program in Clinical Genomics and Proteomics School of Pharmacy Taipei Medical University Taipei Taiwan. Forensic and Clinical Toxicology Center National Taiwan University Hospital Taipei Taiwan Department and Graduate Institute of Forensic Medicine College of Medicine National Taiwan University Taipei Taiwan Department of Emergency Medicine National Taiwan University Hospital Taipei Taiwan. Department of Pharmacy College of Medicine National Taiwan University Taipei Taiwan. Department of Pediatrics and Medical Genetics National Taiwan University Hospital Taipei Taiwan. Department of Laboratory Medicine National Taiwan University Hospital Taipei Taiwan. Forensic and Clinical Toxicology Center National Taiwan University Hospital Taipei Taiwan. Department and Graduate Institute of Forensic Medicine College of Medicine National Taiwan University Taipei Taiwan. Electronic address: gychen@ntu.edu.tw.

Determination of urine organic acids (UOAs) is essential to understand the disease progress of inborn errors of metabolism (IEM) and often relies on GC-MS analysis. However, the efficiency of analytical reports is sometimes restricted by data processing due to labor-intensive work if no proper tool is employed. Herein, we present a simple and rapid workflow with an R-based script for automated data processing (AutoDP) of GC-MS raw files to quantitatively analyze essential UOAs. AutoDP features automatic quality checks, compound identification and confirmation with specific fragment ions, retention time correction from analytical batches, and visualization of abnormal UOAs with age-matched references on chromatograms. Compared with manual processing, AutoDP greatly reduces analytical time and increases the number of identifications. Speeding up data processing is expected to shorten the waiting time for clinical diagnosis, which could greatly benefit clinicians and patients with IEM. In addition, with quantitative results obtained from AutoDP, it would be more feasible to perform retrospective analysis of specific UOAs in IEM and could provide new perspectives for studying IEM.

关键词： AutoDP Automation Data processing GC-MS Inborn errors of metabolism

来源：评论

学校读者我要写书评

暂无评论

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案：

请选择收藏分类：

通借通还

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：