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- Hoglund, K, et al.
(författare)
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Molecular biomarkers of neurodegeneration
- 2013
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Ingår i: Expert review of molecular diagnostics. - : Informa UK Limited. - 1744-8352 .- 1473-7159. ; 13:8, s. 845-861
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Tidskriftsartikel (refereegranskat)
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- Hyötyläinen, Tuulia, 1971-
(författare)
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Novel methodologies in metabolic profiling with a focus on molecular diagnostic applications
- 2012
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Ingår i: Expert Review of Molecular Diagnostics. - : Taylor & Francis. - 1473-7159 .- 1744-8352. ; 12:5, s. 527-538
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Tidskriftsartikel (refereegranskat)abstract
- The metabolome contains all the biological end points of genomic, transcriptomic and proteomic perturbations, also including the influence of gut microbiota and the environment, giving a direct picture of an organism's ongoing metabolic state. Metabolomics thus has the potential to be an effective tool for early diagnosis of disease, and also to be a predictor of treatment response and survival. In recent years, the development of instrumental systems has enabled more comprehensive coverage of the metabolome. Advances in mass spectrometry and chromatography have particularly improved both the efficiency of nontargeted metabolic profiling as well as the sensitivity and reliability of targeted analyses. Mass spectrometric techniques are also increasingly becoming accepted as a routine diagnostic tool in clinical laboratories. This review summarizes the most recent advances and current challenges in metabolomics, with a focus on mass spectrometric methods utilized in biomarker research, highlighted with selected examples.
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- Ståhlberg, Anders, 1975, et al.
(författare)
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Single-cell gene-expression profiling and its potential diagnostic applications.
- 2011
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Ingår i: Expert review of molecular diagnostics. - : Informa UK Limited. - 1744-8352 .- 1473-7159. ; 11:7, s. 735-40
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Forskningsöversikt (refereegranskat)abstract
- Gene-expression profiling has been successfully applied in various diagnostic applications, but its full capacity is yet to be realized. Samples are generally prepared from a mixture of different cells that are present in unknown proportions. Cells are, in many aspects, unique in their characteristics and this heterogeneity confounds the expression profile. The development of new and robust techniques to measure gene expression in single cells opens new avenues in molecular medicine. Today, gene-expression profiles of individual cells can be measured with high precision and accuracy, identifying different cell types as well as revealing heterogeneity among cells of the same kind. Here, we review practical aspects of single-cell gene-expression profiling using reverse transcription quantitative real-time PCR and its potential use in diagnostics.
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- Ståhlberg, Anders, 1975, et al.
(författare)
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The workflow of single-cell expression profiling using quantitative real-time PCR
- 2014
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Ingår i: Expert Review of Molecular Diagnostics. - : Informa UK Limited. - 1473-7159 .- 1744-8352. ; 14:3, s. 323-331
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Tidskriftsartikel (refereegranskat)abstract
- Biological material is heterogeneous and when exposed to stimuli the various cells present respond differently. Much of the complexity can be eliminated by disintegrating the sample, studying the cells one by one. Single-cell profiling reveals responses that go unnoticed when classical samples are studied. New cell types and cell subtypes may be found and relevant pathways and expression networks can be identified. The most powerful technique for single-cell expression profiling is currently quantitative reverse transcription real-time PCR (RT-qPCR). A robust RT-qPCR workflow for highly sensitive and specific measurements in high-throughput and a reasonable degree of multiplexing has been developed for targeting mRNAs, but also microRNAs, non-coding RNAs and most recently also proteins. We review the current state of the art of single-cell expression profiling and present also the improvements and developments expected in the next 5 years.
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- Wiechec, Emilia
(författare)
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Implications of genomic instability in the diagnosis and treatment of breast cancer
- 2011
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Ingår i: Expert Review of Molecular Diagnostics. - : Expert Reviews. - 1473-7159 .- 1744-8352. ; 11:4, s. 445-453
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Tidskriftsartikel (refereegranskat)abstract
- Tumorigenesis is a multistep process resulting from DNA mutations observed at the DNA sequence and chromosome level as well as epigenetic changes, which affect expression of oncogenes and tumor suppressor genes. Breast cancer is a very heterogeneous disease that manifests in various histological and clinical types. Defects in the biological action of the genome driven by various alterations, such as point mutations and chromosomal rearrangements, lead to the collapse of genome integrity, uncontrolled cell proliferation and failure in apoptotic cell death. Detailed profiling of breast cancer-associated genomic alterations is indispensable for the design of individualized anticancer therapy, by suggesting diagnostic and prognostic criteria as well as the outcome of applied treatment. Among various directions of cancer research, identification of genomic alterations in breast cancer and their translation into clinical applications is at the forefront.
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- Ayoglu, Burcu, et al.
(författare)
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Systematic antibody and antigen-based proteomic profiling with microarrays
- 2011
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Ingår i: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS. - 1473-7159. ; 11:2, s. 219-234
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Forskningsöversikt (refereegranskat)abstract
- Current approaches within affinity-based proteomics are driven both by the accessibility and availability of antigens and capture reagents, and by suitable multiplexed technologies onto which these are implemented. By combining planar microarrays and other multiparallel systems with sets of reagents, possibilities to discover new and unpredicted protein disease associations, either via directed hypothesis-driven or via undirected hypothesis-generating target selection, can be created. In the following stages, the discoveries made during these screening phases have to be verified for potential clinical relevance based on both technical and biological aspects. The use of affinity tools throughout discovery and verification has the potential to streamline the introduction of new markers, as transition into clinically required assay formats appears straightforward. In this article, we summarize some of the current building blocks within array-and affinity-based proteomic profiling with a focus on body fluids, by giving a perspective on how current and upcoming developments in this bioscience could enable a path of pursuit for biomarker discovery.
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