解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Considerable progress has been made in identifying genetic risk factors for idiosyncratic adverse drug reactions in the past 30 years. These reactions can affect various tissues and organs, including liver, skin, muscle and heart, in a drug-dependent manner. Using both candidate gene and genome-wide association studie...
journal_title:Genome medicine
pub_type: 杂志文章,评审
doi:10.1186/gm409
更新日期:2013-01-29 00:00:00
abstract::A report on the 62nd Annual Meeting of the American Society of Human Genetics, San Francisco, California, USA, 6-10 November 2012. ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm398
更新日期:2012-12-19 00:00:00
abstract:BACKGROUND:The advent of personalized medicine requires robust, reproducible biomarkers that indicate which treatment will maximize therapeutic benefit while minimizing side effects and costs. Numerous molecular signatures have been developed over the past decade to fill this need, but their validation and up-take into...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm385
更新日期:2012-11-12 00:00:00
abstract:UNLABELLED:Bibliographic records in the PubMed database of biomedical literature are annotated with Medical Subject Headings (MeSH) by curators, which summarize the content of the articles. Two recent publications explain how to generate profiles of MeSH terms for a set of bibliographic records and to use them to defin...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm382
更新日期:2012-10-30 00:00:00
abstract:BACKGROUND:Glioblastoma multiforme, the most common type of primary brain tumor in adults, is driven by cells with neural stem (NS) cell characteristics. Using derivation methods developed for NS cells, it is possible to expand tumorigenic stem cells continuously in vitro. Although these glioblastoma-derived neural ste...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm377
更新日期:2012-10-09 00:00:00
abstract::Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for uncertain or novel g...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm347
更新日期:2012-05-28 00:00:00
abstract::The number of metabolites identified in human cerebrospinal fluid (CSF) has steadily increased over the past 5 years, and in this issue of Genome Medicine David Wishart and colleagues provide a comprehensive update that brings the number of metabolites listed in the CSF metabolome database to 476 compounds. There is n...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm338
更新日期:2012-04-30 00:00:00
abstract:BACKGROUND:Metabolomics, the non-targeted interrogation of small molecules in a biological sample, is an ideal technology for identifying diagnostic biomarkers. Current tissue extraction protocols involve sample destruction, precluding additional uses of the tissue. This is particularly problematic for high value sampl...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm332
更新日期:2012-04-30 00:00:00
abstract::A report on the Keystone Symposium 'Complex Traits: Genomics and Computational approaches', Breckenridge, Colorado, USA, 20-25 February 2012. ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm328
更新日期:2012-03-30 00:00:00
abstract:BACKGROUND:Efforts to improve research outcomes have resulted in genomic researchers being confronted with complex and seemingly contradictory instructions about how to perform their tasks. Over the past decade, there has been increasing pressure on university researchers to commercialize their work. Concurrently, they...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm316
更新日期:2012-02-27 00:00:00
abstract:BACKGROUND:Cigarette smoking is well-known to associate with accelerated skin aging as well as cardiovascular disease and lung cancer, in large part due to oxidative stress. Because metabolites are downstream of genetic variation, as well as transcriptional changes and post-translational modifications of proteins, they...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm313
更新日期:2012-02-23 00:00:00
abstract:BACKGROUND:The R620W variant in protein tyrosine phosphatase non-receptor 22 (PTPN22) is associated with rheumatoid arthritis (RA). The PTPN22 gene has alternatively spliced transcripts and at least two of the splice forms have been confirmed to encode different PTPN22 (LYP) proteins, but detailed information regarding...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm301
更新日期:2012-01-20 00:00:00
abstract::The zebrafish model is rapidly gaining prominence in the study of development, hematopoiesis, and disease. The zebrafish provides distinct advantages over other vertebrate models during early embryonic development by producing transparent, externally fertilized embryos. Embryonic zebrafish are easily visualized and ma...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm299
更新日期:2011-12-29 00:00:00
abstract:BACKGROUND:Organic cation transporters (OCTs) determine not only physiological processes but are also involved in the cellular uptake of anticancer agents. Based on microarray analyses in hepatocellular carcinoma (HCC), SLC22A1/OCT1 mRNA seems to be downregulated, but systematic protein expression data are currently mi...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm298
更新日期:2011-12-23 00:00:00
abstract::Metabolomic analysis will provide the next large set of clues to further our understanding of human health and disease. A recent study has elucidated the significant differences in the metabolomes of adipocytes, serum and an adipocyte cell line after activation of two nuclear receptors, peroxisome proliferator activat...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm270
更新日期:2011-08-23 00:00:00
abstract::The anticonvulsant carbamazepine has a high incidence of cutaneous adverse drug reactions. A recent prospective clinical trial in Taiwan has indicated that HLA-B*1502 screening will reduce the incidence of life-threatening adverse reactions to carbamazepine, while a genome-wide association study has identified the HLA...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm243
更新日期:2011-05-30 00:00:00
abstract::Considerable time and effort has been spent in developing analysis and quality assessment methods to allow the use of microarrays in a clinical setting. As is the case for microarrays and other high-throughput technologies, data from new high-throughput sequencing technologies are subject to technological and biologic...
journal_title:Genome medicine
pub_type: 社论
doi:10.1186/gm208
更新日期:2010-12-10 00:00:00
abstract::Stem cell banks are increasingly seen as an essential resource of biological materials for both basic and translational research. Stem cell banks support transnational access to quality-controlled and ethically sourced stem cell lines from different origins and of varying grades. According to the Organisation for Econ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm194
更新日期:2010-10-05 00:00:00
abstract::Candidate gene association studies, linkage studies and genome-wide association studies have highlighted the role of genetic factors in the development of ischemic stroke. This research started over a decade ago, and can be separated into three major periods of research. In the first wave classic susceptibility marker...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm185
更新日期:2010-09-13 00:00:00
abstract::Aberrant DNA methylation, in particular promoter hypermethylation and transcriptional silencing of tumor suppressor genes, has an important role in the development of many human cancers, including renal cell carcinoma (RCC). Indeed, apart from mutations in the well studied von Hippel-Lindau gene (VHL), the mutation fr...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm180
更新日期:2010-09-03 00:00:00
abstract::The pioneering work of Jean Dausset on the HLA system established several principles that were later reflected in the Human Genome Project and contributed to the foundations of predictive, preventive, personalized and participatory (P4) medicine. To effectively develop systems medicine, we should take advantage of the...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm178
更新日期:2010-08-26 00:00:00
abstract::Prenatal diagnosis of fetal aneuploidies and chromosomal anomalies is likely to undergo a profound change in the near future. On the one hand this is mediated by new technical developments, such as chromosomal microarrays, which allow a much more precise delineation of minute sub-microscopic chromosomal aberrancies th...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm171
更新日期:2010-08-05 00:00:00
abstract:BACKGROUND:Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whether molecular profiling of the liver identifies stages of disease at diagnosis. METHODS:We examine...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm154
更新日期:2010-05-13 00:00:00
abstract::Chronic infection with hepatitis B virus (HBV) occurs in approximately 6% of the world's population and carriers of the virus are at risk for hepatocellular carcinoma and cirrhosis. Current treatment regimens, which include interferon-alpha and nucleoside/nucleotide analogs, are only partially effective and new treatm...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm149
更新日期:2010-04-28 00:00:00
abstract::The magnitude of the detrimental effects following in utero alcohol exposure, including fetal alcohol syndrome and other fetal alcohol spectrum disorders (FASD), is globally underestimated. The effects include irreversible cognitive and behavioral disabilities as a result of abnormal brain development, pre- and postna...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm148
更新日期:2010-04-28 00:00:00
abstract:BACKGROUND:Evidence for genetic contribution to complex diseases is described by recurrence risks to relatives of diseased individuals. Genome-wide association studies allow a description of the genetics of the same diseases in terms of risk loci, their effects and allele frequencies. To reconcile the two descriptions ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm131
更新日期:2010-02-02 00:00:00
abstract::Primary biliary cirrhosis (PBC) is an autoimmune hepatobiliary disease characterized by immune-mediated injury of small and medium-sized bile ducts, eventually leading to liver cirrhosis. Several studies have addressed PBC immunopathology, and the data support an immune activation leading to autoantibodies and autorea...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm126
更新日期:2010-01-26 00:00:00
abstract::Cutaneous malignancies, especially malignant melanoma, exhibit great genetic heterogeneity. As a result, some individuals and families have particularly increased risk due to genetic predisposition to the disease. The susceptibility alleles range from rarely occurring, heritable, high-risk variants to ubiquitously occ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm95
更新日期:2009-10-27 00:00:00
abstract::Systems biology has matured considerably as a discipline over the last decade, yet some of the key challenges separating current research efforts in systems biology and clinically useful results are only now becoming apparent. As these gaps are better defined, the new discipline of systems medicine is emerging as a tr...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm88
更新日期:2009-09-29 00:00:00
abstract::Recent studies have demonstrated that network approaches are highly appropriate tools for understanding the extreme complexity of the aging process. Moreover, the generality of the network concept helps to define and study the aging of technological and social networks and ecosystems, which may generate novel concepts...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm90
更新日期:2009-09-28 00:00:00
abstract::For almost three decades, Huntington's disease has been a prototype for the application of genetic strategies to human disease. HD, the Huntington's disease gene, was the first autosomal defect mapped using only DNA markers, a finding in 1983 that helped to spur similar studies in many other disorders and contributed ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm80
更新日期:2009-08-21 00:00:00
abstract::Genome-wide association analyses on large patient cohorts are generating large sets of candidate disease genes. This is coupled with the availability of ever-increasing genomic databases and a rapidly expanding repository of biomedical literature. Computational approaches to disease-gene association attempt to harness...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm77
更新日期:2009-08-07 00:00:00
abstract::Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be suff...
journal_title:Genome medicine
pub_type: 社论
doi:10.1186/gm48
更新日期:2009-05-08 00:00:00
abstract::To help overcome the bottlenecks that limit the development of diagnostic and therapeutic products, academic and industrial researchers, patient organizations and charities, and regulatory and funding institutions should redefine the basis for sharing the knowledge collected in large-scale clinical and experimental st...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm29
更新日期:2009-03-04 00:00:00
abstract::A genetic contribution to infectious disease in human populations has long been suspected and is now supported by more than 50 years of epidemiological evidence showing, for example, infection rates to be much higher than disease rates. In successful family studies of high-penetrance effects, single gene mutations hav...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm19
更新日期:2009-02-10 00:00:00
abstract::The Human Gene Mutation Database (HGMD((R))) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize the history of the database and its current resources. By December 2008, the database contained over 85,000 different l...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm13
更新日期:2009-01-22 00:00:00