Abstract:
:Cardiomyopathies are an important and heterogeneous group of common cardiac diseases. An increasing number of cardiomyopathies are now recognized to have familial forms, which result from single-gene mutations that render a Mendelian inheritance pattern, including hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Recently, clinical genetic tests for familial cardiomyopathies have become available for clinicians evaluating and treating patients with these diseases, making it necessary to understand the current progress and challenges in cardiomyopathy genetics and diagnostics. In this review, we summarize the genetic basis of selected cardiomyopathies, describe the clinical utility of genetic testing for cardiomyopathies and outline the current challenges and emerging developments.
journal_name
Expert Rev Mol Diagnjournal_title
Expert review of molecular diagnosticsauthors
Callis TE,Jensen BC,Weck KE,Willis MSdoi
10.1586/erm.10.13subject
Has Abstractpub_date
2010-04-01 00:00:00pages
329-51issue
3eissn
1473-7159issn
1744-8352journal_volume
10pub_type
杂志文章,评审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::Endometriosis is defined as the presence of endometrial glands and stroma outside the uterus, in different parts of the peritoneal cavity. It affects up to 10% of reproductive-age women and up to 50% of women with infertility. Surgical diagnosis of endometriosis is still the gold standard, with no diagnostic biomarker...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1015994
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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::Introduction: Big Data technologies instilled an informational perspective to our understanding of the world. However, fundamental issues such as the management and storage of data can create privacy concerns. Heterogeneous types of data pose challenges in reproducibility and standardization. It is now an opportunity ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2019.1657834
更新日期:2019-10-01 00:00:00
abstract::With the emergence of new viral infections, it is necessary to set up new target-specific assays, based on existing molecular techniques such as real-time PCR, as quickly as possible. Without these diagnostic tools, the geographical spread of new infections, follow-up of the disease outbreak and analysis of the pathog...
journal_title:Expert review of molecular diagnostics
pub_type: 社论
doi:10.1586/14737159.2016.1116943
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:Syphilis remains an important and preventable cause of stillbirth and neonatal mortality. About 1 million women with active syphilis become pregnant each year. Without treatment, 25% of them will deliver a stillborn baby and 33% a low birth weight baby with an increased chance of dying in the first month o...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1303379
更新日期:2017-04-01 00:00:00
abstract::Renal cell carcinoma is one of the common malignancies of the genitourinary tract. In approximately one third of patients, distant metastases are present at the time of initial diagnosis and in another third, the tumor will recur even after nephrectomy with a curative intent. Renal cell carcinoma is resistant to all c...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.9.1.75
更新日期:2009-01-01 00:00:00
abstract::The measurement of numerous samples as in drug screening or diagnostics has been improved significantly over recent years. The processing of a great number of carriers with 96, 384 or 1536 wells is not the limiting step anymore and more than 100,000 samples can be analyzed within 24 h. New challenges arise in optimizi...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:
更新日期:2001-11-01 00:00:00
abstract::The CCN genes encode secreted signaling proteins that participate in fundamental processes including cell adhesion, proliferation and differentiation, embryogenesis, tissue remodeling and patterning. Abnormal expression of CCN proteins is associated with several pathological conditions, including vascular diseases, fi...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.3.5.597
更新日期:2003-09-01 00:00:00
abstract:INTRODUCTION:Advances in the biology of non-small-cell lung cancer, especially adenocarcinoma, reveal multiple molecular subtypes driving oncogenesis. Accordingly, individualized targeted therapeutics are based on mutational diagnostics. AREAS COVERED:Advances in strategies and techniques for individualized treatment,...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2016.1181545
更新日期:2016-07-01 00:00:00
abstract::Parkinson's disease (PD) is a common, heterogeneous syndrome diagnosed clinically by the presence of classical neurological symptoms and the absence of 'red flags' that suggest alternative secondary parkinsonian disorders. Neuropathologically, nigrostriatal loss and the presence of proteinaceous inclusions (Lewy bodie...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.10.86
更新日期:2010-11-01 00:00:00
abstract::The natural history of high-grade cervical intraepithelial neoplasia (CIN) is largely unpredictable and current histopathological examination is unable to differentiate between lesions that will regress and those that will not. Therefore, most high-grade lesions are currently treated by surgical excision, leading to o...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1012068
更新日期:2015-04-01 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::Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey'...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1039516
更新日期:2015-06-01 00:00:00
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.7.3.231
更新日期:2007-05-01 00:00:00
abstract::Since the discovery of the link between miRNA and cancer, miRNAs have been investigated in virtually all tumors. Their ability to add a novel level of gene regulation and to target genes apparently not linked to each other has greatly intrigued researchers and physicians alike. In this review, the role of miRNAs in mu...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2014.946906
更新日期:2014-11-01 00:00:00
abstract::High throughput gene sequencing is transforming the utilization of genomics in patient care by providing physicians with a powerful tool to aid the diagnosis and management of disease, particularly in precision oncology. As next-generation sequencing (NGS)-based diagnostic assays are developed, significant hurdles suc...
journal_title:Expert review of molecular diagnostics
pub_type: 社论
doi:10.1586/14737159.2014.916213
更新日期:2014-07-01 00:00:00
abstract::The management of cancer and other genetically based diseases is far from optimal in even our most advanced medical centers. There is still uncertainty regarding how diseases will progress in certain patients, toxicity that must be tolerated with imprecise treatment regimens and significant potential for treatment fai...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.1.1.53
更新日期:2001-05-01 00:00:00
abstract::Molecular genetic testing involves DNA analysis using various methods for the purpose of diagnosing genetic disorders. In the prenatal DNA diagnostic setting, fetal DNA is usually tested for a specific single-gene disorder for which the fetal risk is 25% or more. In contrast, cytogenetic testing is often used to detec...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.5.6.883
更新日期:2005-11-01 00:00:00
abstract::Biomarkers complement clinical assessment, electrocardiogram and cardiac imaging in the diagnosis, risk stratification, triage and management of patients with suspected acute cardiovascular diseases. While there is broad consensus that cardiac troponin is the preferred biomarker in clinical practice for the detection ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1010519
更新日期:2015-04-01 00:00:00
abstract::Invasive candidiasis is the most important opportunistic fungal infection, causing high morbidity and mortality. Traditional methods of diagnosis, which include blood culture and biopsy, usually lack both sensitivity and specificity, or become positive late in the course of the infection. Therefore, new nonculture-bas...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.8.3.315
更新日期:2008-05-01 00:00:00
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.10.81
更新日期:2010-10-01 00:00:00
abstract:INTRODUCTION:Tuberculosis (TB) is a leading killer worldwide. End TB strategy aims at ending the TB epidemic by 2030. Early, accurate, and affordable diagnosis represents a cornerstone to achieve this goal. Innovative strategies for TB diagnostics have been introduced. However, the ideal assay is yet unavailable and co...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1308825
更新日期:2017-05-01 00:00:00
abstract::Concomitant advances made by the Human Genome Project and in the development of nucleic acid screening technologies are driving the expansion of pharmacogenomic research and molecular diagnostics. However, most current technologies are restrictive due to their complexity and/or cost, limiting the potential of personal...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2.5.487
更新日期:2002-09-01 00:00:00
abstract::Non-targeted identification of microbes is now possible directly in biological samples, based on whole-genome-NGS (WG-NGS) techniques that allow deep sequencing of nucleic acids, data mining and sorting out of sequences of pathogens without any a priori hypothesis. WG-NGS was first only used as a research tool due to ...
journal_title:Expert review of molecular diagnostics
pub_type: 社论
doi:10.1586/14737159.2015.1111140
更新日期:2015-01-01 00:00:00
abstract:INTRODUCTION:The 2014-16 outbreak of ebola virus disease (EVD) in West Africa resulted in 11,308 deaths. During the outbreak only 60% of patients were laboratory confirmed and global health authorities have identified the need for accurate and readily deployable molecular diagnostics as an important component of the id...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2019.1595592
更新日期:2019-04-01 00:00:00
abstract::In recent years, quantitative real-time PCR tests have been extensively developed in clinical microbiology laboratories for routine diagnosis of infectious diseases, particularly bacterial diseases. This molecular tool is well-suited for the rapid detection of bacteria directly in clinical specimens, allowing early, s...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.12.53
更新日期:2012-09-01 00:00:00
abstract::MicroRNAs regulate target gene expression through translation repression or mRNA decay, and they are emerging as important modulators in cellular pathways. Previous studies have shown the occurrence of epigenetically modified miRNAs in colorectal cancer (CRC), identifying these miRNA methylation signatures may provide...
journal_title:Expert review of molecular diagnostics
pub_type: 评论,杂志文章
doi:10.1586/erm.11.57
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:The aim of this manuscript was to explore the molecular basis and identify novel biomarkers for the diagnosis and prognosis of patients with chronic disorder of consciousness. METHODS:A coupled isobaric tag for relative and absolute quantitation-based approach was used to screen differentially expressed pro...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2018.1438192
更新日期:2018-03-01 00:00:00
abstract::Since aptamers were reported in 1990, research into the applications of aptamers, particularly diagnostic applications, has been growing. Aptamers can act as recognition elements instead of antibodies. In this regard, aptamers have unique characteristics because they are composed of nucleic acids. Intra- and intermole...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2014.868307
更新日期:2014-03-01 00:00:00