Abstract:
:Stroke is a multifactorial disease responsible for nearly 10% of deaths each year in industrialized countries. While some monogenic forms of stroke have been described, the vast majority result from the common polygenic form of the disease. Progress in molecular genetics has allowed the identification, through genome-wide linkage analysis, of various candidate genes, including the genes encoding PDE4D and ALOX5AP. Since then, genetic research has been extensively performed from single candidate genes to whole-genome scan studies, in parallel with the development of high-throughput technologies in molecular diagnostics. Additionally, the safety and efficacy of tissue plasminogen activator, the only approved therapy for the acute phase of stroke, is modulated by genetic background associated with the occurrence of hemorrhagic transformations and with the revascularization of the cerebral arteries. In the near future, understanding the contribution of stroke genetic factors will lead to improvements in prevention and treatments for neurovascular diseases.
journal_name
Expert Rev Mol Diagnjournal_title
Expert review of molecular diagnosticsauthors
Domingues-Montanari S,Mendioroz M,del Rio-Espinola A,Fernández-Cadenas I,Montaner Jdoi
10.1586/14737159.8.4.495subject
Has Abstractpub_date
2008-07-01 00:00:00pages
495-513issue
4eissn
1473-7159issn
1744-8352journal_volume
8pub_type
杂志文章,评审abstract::The huge parallel sequencing capabilities of next generation sequencing technologies have made them the tools of choice to characterize genomic aberrations for research and diagnostic purposes. For clinical applications, screening the whole genome or exome is challenging owing to the large genomic area to be sequenced...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2016.1133298
更新日期:2016-01-01 00:00:00
abstract::Klinefelter syndrome is the most common chromosome abnormality in humans. The estimated prevalence is one in 500 to one in 1000 males but due to the widely variable and often aspecific features, only one in four cases are recognized. The most specific clinical features which can be observed at adult age are small test...
journal_title:Expert review of molecular diagnostics
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doi:10.1586/erm.10.63
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1063420
更新日期:2015-01-01 00:00:00
abstract::Real-time quantitative PCR allows the sensitive, specific and reproducible quantitation of nucleic acids. Since its introduction, real-time quantitative PCR has revolutionized the field of molecular diagnostics and the technique is being used in a rapidly expanding number of applications. This exciting technology has ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.5.2.209
更新日期:2005-03-01 00:00:00
abstract:INTRODUCTION:There is a significant interest in developing inexpensive portable biosensing platforms for various applications including disease diagnostics, environmental monitoring, food safety, and water testing at the point-of-care (POC) settings. Current diagnostic assays available in the developed world require so...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1285228
更新日期:2017-04-01 00:00:00
abstract::Cancer becomes the second leading cause of death in the world. An effective strategy for early diagnosis of the disease is key to reduce the mortality and morbidity. Development of effective monoclonal antibody (mAb)-based assays or diagnostic imaging techniques for detection of antigens and small molecules that are r...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2014.866039
更新日期:2014-01-01 00:00:00
abstract::A successful biodefense strategy relies upon any combination of four approaches. A nation can protect its troops and citizenry first by advanced mass vaccination, second, by responsive ring vaccination, and third, by post-exposure therapeutic treatment (including vaccine therapies). Finally, protection can be achieved...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1586/14737159.4.6.779
更新日期:2004-11-01 00:00:00
abstract::Deciphering the cellular and molecular interactions that drive disease within the tissue microenvironment holds promise for discovering drug targets of the future. In order to recapitulate the in vivo interactions through molecular analysis, one must be able to analyze specific cell populations within the context of t...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.7.5.647
更新日期:2007-09-01 00:00:00
abstract::Several biomarkers associated with spontaneous preterm birth (PTB) have been discovered over the last decade. Many of these markers, such as cytokines, are associated with infection and inflammation. As such, these biomarkers represent biologically plausible candidates for assessing those at risk of PTB. However, in t...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.09.70
更新日期:2010-01-01 00:00:00
abstract::For most diseases, better biomarkers are urgently needed to enable (early) detection, diagnosis, prognosis, stratification for therapy and response monitoring. Proteomics delineates gene products that carry out the majority of cellular functions, and thereby may not only yield insight into altered signaling pathways i...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.12.31
更新日期:2012-05-01 00:00:00
abstract::Introduction: The use of liquid biopsy on the blood from solid malignancies provides a convenient way of detecting actionable mutations, monitoring treatment response, detecting early recurrence and prognosticating outcomes. The aim of this review is to discuss the current status and future direction of serum biomarke...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2019.1680284
更新日期:2020-02-01 00:00:00
abstract:INTRODUCTION:A classification of rhabdomyosarcoma (RMS) with prognostic relevance has primarily relied on clinical features and histologic classification as either embryonal or alveolar RMS. The PAX3-FOXO1 and PAX7-FOXO1 gene fusions occur in 80% of cases with the alveolar subtype and are more predictive of outcome tha...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1275965
更新日期:2017-02-01 00:00:00
abstract::Finding early-stage lung cancer where there is a higher chance for patient survival remains a major healthcare challenge. Low-dose spiral computed tomography for high-risk patients can increase the detection of cancers with certain tradeoffs, such as increased radiation exposure and surgical risks for false-positive c...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2016.1149469
更新日期:2016-01-01 00:00:00
abstract::Among nucleic acid analytical methods, high-resolution melting analysis is gaining more and more attention. High-resolution melting provides simple, homogeneous solutions for variant scanning and genotyping, addressing the needs of today's overburdened laboratories with rapid turnaround times and minimal cost. The fle...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.09.84
更新日期:2010-03-01 00:00:00
abstract::There is great interest in the development of noninvasive methods for imaging angiogenic responses. Strategies for assessing angiogenesis have primarily relied on measuring perfusion-related characteristics, such as total blood flow or microvascular volume, or detecting abnormal vascular permeability. Techniques are n...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.5.3.447
更新日期:2005-05-01 00:00:00
abstract::Introduction: Chlamydia trachomatis and Neisseria gonorrhoeae infection rates continue to rise worldwide. Increasing screening of the largely asymptomatic infections is critical for timely and effective disease control. Laboratory solutions that can handle increasing volumes and generate highly accurate test results a...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2020.1724093
更新日期:2020-04-01 00:00:00
abstract::Introduction: Currently, genetic testing of BRCA1/2 genes includes screening for single-nucleotide variants, small insertions/deletions, and copy number variations (CNVs). In fact, many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2019.1657011
更新日期:2019-09-01 00:00:00
abstract::A concise survey of the emerging PD-loop technology is presented, which outlines several exemplary methods with robust DNA diagnostic potential: duplex DNA capture, topological DNA labeling, nondenaturing DNA sequencing and hybridization of molecular beacons to double-stranded DNA. Advantages of these new PNA-based as...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1586/14737159.1.3.343
更新日期:2001-09-01 00:00:00
abstract:INTRODUCTION:Minimally invasive methods will augment the clinical approach for establishing the diagnosis or monitoring treatment response of central nervous system tumors. Liquid biopsy by blood or cerebrospinal fluid sampling holds promise in this regard. Areas covered: In this literature review, the authors highligh...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1374854
更新日期:2017-10-01 00:00:00
abstract::Neurodevelopmental disorders, such as autism, are complex entities that can be caused by biological and social factors. In a subset of patients with congenital neurodevelopmental disorders, clear diagnosis can be achieved using DNA sequence-based analysis to identify changes in the DNA sequence (genetic variation). Ho...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2014.925805
更新日期:2014-07-01 00:00:00
abstract::More than a decade of intensive use of microarray technology has flooded the scientific community with genome-wide expression data of diverse biological states. As a result, connection of the expression signatures of a relatively small number of genes related to, for example, disease states, patient responses or toxic...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.8.4.379
更新日期:2008-07-01 00:00:00
abstract::Oligonucleotide microarrays such as comparative genomic hybridization arrays and SNP microarrays enable the identification of genomic imbalances - also termed copy-number variants - with increasing resolution. This article will focus on the most significant applications of high-throughput oligonucleotide microarrays, ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.11.32
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Although the majority of nasopharyngeal carcinoma (NPC) patients demonstrate favorable outcomes after radiotherapy and/or chemotherapy, about 8-10% of patients will develop recurrent disease, and genomic alterations (GAs) associated with the recurrence are unclear. METHODS:This study investigated the GAs in...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2020.1835473
更新日期:2020-11-01 00:00:00
abstract::ST2, an IL-1 receptor family member with transmembrane (ST2L) and soluble (sST2) isoforms, was originally described in the context of inflammatory and autoimmune diseases. However, after the identification of IL-33 as the functional ligand for ST2, and conceptualization of the role of ST2/IL-33 signaling in cardiac re...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.10.25
更新日期:2010-05-01 00:00:00
abstract::It is becoming increasingly clear that the herpes simplex viruses (HSVs) 1 and 2 constitute a major, global, public health problem, particularly as genital herpes is implicated in the causation of a significant percentage of onwards transmission of the HIV virus. A major factor in the transmission of HSV is that most ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.6.5.767
更新日期:2006-09-01 00:00:00
abstract::Indeterminate thyroid lesions are diagnosed in up to 30% of fine needle aspirations. These nodules harbor malignancy in more than 25% of cases, and hemithyroidectomy or total thyroidectomy has therefore been advocated in order to achieve definitive diagnosis. Recently, many molecular markers have been investigated in ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2013.811893
更新日期:2013-07-01 00:00:00
abstract::Recently, several chromosome banding techniques based on fluorescence in situ hybridization (FISH) have been developed for the human and the mouse genome. In contrast to the standard chromosome banding techniques presently used, giving a protein-related banding pattern, those FISH techniques are DNA-specific. Currentl...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2.3.217
更新日期:2002-05-01 00:00:00
abstract::Antimitochondrial antibodies are the serological hallmark of primary biliary cirrhosis (PBC). Besides antimitochondrial antibodies, the autoantibody profile of PBC includes antinuclear antibodies (ANA) which are detectable by indirect immunofluorescence in up to 50% of PBC patients. Two immunofluorescence patterns are...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.11.82
更新日期:2012-01-01 00:00:00
abstract::The emerging field of metabolomics, in which a large number of small-molecule metabolites from body fluids or tissues are detected quantitatively in a single step, promises immense potential for early diagnosis, therapy monitoring and for understanding the pathogenesis of many diseases. Metabolomics methods are mostly...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.8.5.617
更新日期:2008-09-01 00:00:00
abstract:INTRODUCTION:Drug-induced liver injury (DILI) is a severe adverse drug reaction which is of major concern to patients, clinicians and the pharmaceutical industry. Accurate and rapid detection of DILI is important for patient stratification and treatment in the clinic and benefits preclinical drug design and risk assess...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2018.1415145
更新日期:2018-01-01 00:00:00