Abstract:
:Regenerative medicine has a three-body problem: alignment of the dynamics of the genome, stem cell and patient. Focusing on the rare inherited fragile skin disorder epidermolysis bullosa, three recent innovative studies have used induced pluripotent stem cells and gene correction, revertant mosaicism or genome editing to advance the prospects of better cell-based therapeutics to restore skin structure and function for epidermolysis bullosa and potentially other inherited diseases.
journal_name
Genome Medjournal_title
Genome medicineauthors
Tolar J,McGrath JAdoi
10.1186/s13073-015-0141-7subject
Has Abstractpub_date
2015-02-20 00:00:00pages
15issue
1issn
1756-994Xpii
141journal_volume
7pub_type
杂志文章相关文献
Genome Medicine文献大全abstract::We describe a method that enables the multiplex screening of a pool of many different donor cell lines. Our method accurately predicts each donor proportion from the pool without requiring the use of unique DNA barcodes as markers of donor identity. Instead, we take advantage of common single nucleotide polymorphisms,...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-018-0541-6
更新日期:2018-04-19 00:00:00
abstract:BACKGROUND:Long non-coding RNAs (lncRNAs) are emerging as molecules that significantly impact many cellular processes and have been associated with almost every human cancer. Compared to protein-coding genes, lncRNA genes are often associated with transposable elements, particularly with endogenous retroviral elements ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-015-0142-6
更新日期:2015-03-05 00:00:00
abstract::Pathogen genomic analysis is a potentially transformative new approach to the clinical and public-health management of infectious diseases. Health systems investing in this technology will need to build infrastructure and develop policies that ensure genomic information can be generated, shared and acted upon in a tim...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-015-0254-z
更新日期:2015-12-30 00:00:00
abstract::The identification of somatic mosaicism in the brain lends a new perspective to our understanding of the role of gene and environment interactions in psychiatric disease risk. Somatic mutations, such as retrotransposon insertions, that are precipitated by modern environmental factors may alter neuronal function and ne...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-016-0317-9
更新日期:2016-05-23 00:00:00
abstract::CRISPR/Cas9 has revolutionized cancer mouse models. Although loss-of-function genetics by CRISPR/Cas9 is well-established, generating gain-of-function alleles in somatic cancer models is still challenging because of the low efficiency of gene knock-in. Here we developed CRISPR-based Somatic Oncogene kNock-In for Cance...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0627-9
更新日期:2019-04-16 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:BACKGROUND:Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various endogenous and exogenous causes, including normal DNA damage and rep...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00745-2
更新日期:2020-05-29 00:00:00
abstract::Large-scale cancer genomic studies have revealed that the genetic heterogeneity of the same type of cancer is greater than previously thought. A key question in cancer genomics is the identification of driver genes. Although existing methods have identified many common drivers, it remains challenging to predict person...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-014-0056-8
更新日期:2014-07-31 00:00:00
abstract:BACKGROUND:Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel s...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm415
更新日期:2013-02-05 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::The Killer-cell Immunoglobulin-like Receptor (KIR) gene complex has considerable biomedical importance. Patterns of polymorphism in the KIR region include variability in the gene content of haplotypes and diverse structural arrangements. Droplet digital PCR (ddPCR) was used to identify different haplotype motifs and t...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm537
更新日期:2014-03-05 00:00:00
abstract:BACKGROUND:The advent of direct-to-consumer (DTC) genetic testing (GT) has sparked a number of debates regarding the scientific validity of tests, their broad health and ethical implications for society as well as their legal status. To date, relatively few empirical studies have been published regarding this phenomeno...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm449
更新日期:2013-05-22 00:00:00
abstract:BACKGROUND:Systemic sclerosis (SSc) is a genetically complex autoimmune disease mediated by the interplay between genetic and epigenetic factors in a multitude of immune cells, with CD4+ T lymphocytes as one of the principle drivers of pathogenesis. METHODS:DNA samples exacted from CD4+ T cells of 48 SSc patients and ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00779-6
更新日期:2020-09-25 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:BACKGROUND:Precision oncology involves analysis of individual cancer samples to understand the genes and pathways involved in the development and progression of a cancer. To improve patient care, knowledge of diagnostic, prognostic, predisposing, and drug response markers is essential. Several knowledgebases have been ...
journal_title:Genome medicine
pub_type: 杂志文章,meta分析
doi:10.1186/s13073-019-0686-y
更新日期:2019-12-03 00:00:00
abstract::This is an Erratum to Genome Medicine 2013, 5:89, highlighting an error in Table 1 of the original article. Please see related article: http://genomemedicine.com/content/5/9/89.[This corrects the article DOI: 10.1186/gm492.]. ...
journal_title:Genome medicine
pub_type: 已发布勘误
doi:10.1186/s13073-015-0163-1
更新日期:2015-05-07 00:00:00
abstract:BACKGROUND:Phenotypic changes during cancer progression are associated with alterations in gene expression, which can be exploited to build molecular signatures for tumor stage identification and prognosis. However, it is not yet known whether the relative abundance of transcript isoforms may be informative for clinica...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-016-0339-3
更新日期:2016-08-17 00:00:00
abstract::Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges include educational and counseling issues. ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-014-0062-x
更新日期:2014-08-26 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::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::Whole genome sequencing is increasingly used to study phenotypic variation among infectious pathogens and to evaluate their relative transmissibility, virulence, and immunogenicity. To date, relatively little has been published on how and how many pathogen strains should be selected for studies associating phenotype a...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-014-0101-7
更新日期:2014-11-15 00:00:00
abstract:BACKGROUND:Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes. METHODS:We ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00785-8
更新日期:2020-10-14 00:00:00
abstract:BACKGROUND:Genomics research is becoming increasingly globally connected and collaborative, contesting traditional ethical and legal boundaries between global and local research practice. As well, global data-driven genomics research holds great promise for health discoveries. Yet, paradoxically, current research ethic...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm503
更新日期:2013-11-22 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::The microbial residents of the human gut are a major factor in the development and lifelong maintenance of health. The gut microbiota differs to a large degree from person to person and has an important influence on health and disease due to its interaction with the human immune system. Its overall composition and mic...
journal_title:Genome medicine
pub_type: 杂志文章,评审
doi:10.1186/gm469
更新日期:2013-07-31 00:00:00
abstract::Coinciding with the release of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, two recently published molecular genetics analyses suggest large overlaps in genetic liability to schizophrenia, bipolar disorder and major depressive disorder. This indicates that a broader category of sever...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm501
更新日期:2013-10-25 00:00:00
abstract:BACKGROUND:Expression quantitative trait loci (eQTL) analysis is a powerful method to detect correlations between gene expression and genomic variants and is widely used to interpret the biological mechanism underlying identified genome wide association studies (GWAS) risk loci. Numerous eQTL studies have been performe...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-016-0320-1
更新日期:2016-06-10 00:00:00
abstract:BACKGROUND:Allele-specific expression (ASE) is differential expression of each of the two chromosomal alleles of an autosomal gene. We assessed ASE patterns in the human left atrium (LA, n = 62) and paired samples from the left ventricle (LV, n = 76) before and after ischemia, and tested the utility of differential ASE...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-016-0381-1
更新日期:2016-12-06 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:BACKGROUND:Chemotherapeutic agents such as anthracyclines and taxanes are commonly used in the neoadjuvant setting. Bevacizumab is an antibody which binds to vascular endothelial growth factor A (VEGFA) and inhibits its receptor interaction, thus obstructing the formation of new blood vessels. METHODS:A phase II rando...
journal_title:Genome medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1186/s13073-018-0601-y
更新日期:2018-11-29 00:00:00