Clinical Proteomics for Precision Medicine: The Bladder Cancer Case

Latosinska, Agnieszka; Frantzi, Maria; Vlahou, Antonia; Merseburger, Axel S.; Mischak, Harald

doi:10.1002/prca.201700074

Cited by 25 publications

(21 citation statements)

References 83 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Proteome data represent the combined effect of the genetic, epigenetic, transcriptional and translational regulation and proteomics applications will thus provide valuable information about the "real-time" dynamic molecular phenotype (85). The quantitative proteomic analysis will be essential to understand underlying disease mechanisms which in turn will shed light on disease diagnosis, prevention, intervention, monitoring, and prediction of the treatment response (86).…”

Section: Proteomicsmentioning

confidence: 99%

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

et al. 2019

View full text Add to dashboard Cite

Primary immunodeficiency diseases (PIDs) are composed by a group of highly heterogeneous immune system diseases, of which approximately 350 forms of PID have been described so far. The causative gene of around 60% of patients with PIDs has yet unknown. In recent years, Next Generation Sequencing (NGS) has been increasingly adopted for gene identification and molecular diagnosis of rare diseases, including PIDs. An overview of the genetic makeup that underlies PID using NGS has been suggested as a promising approach to elucidate the etiology of PIDs, which could yield diagnostic and, possibly, provide new treatment advances for PID.To approach this goal, we performed either whole exome sequencing (WES, 454 samples) or targeted region sequencing (TRS, 217 samples) on 602 samples of 500 PID pedigrees. We have summarized the practical suggestions for the interpretation of NGS data and the techniques that can be used to search disease-causative PID genes in Paper I. This work aims to improve data annotation, interpretation, and application of NGS data in PIDs, which also facilitates a wide range of application of NGS data analysis in other Mendelian disorders.

show abstract

Section: Proteomicsmentioning

confidence: 99%

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

et al. 2019

View full text Add to dashboard Cite

show abstract

“…However, the final output of gene expression, the protein, is regulated by a number of different cellular processes and posttranslational modifications -crucial for proper protein function -that are not detected by genomic techniques. High-throughput proteomic approaches have been recently gaining territory as a promising alternative to identifying molecular signatures of disease in schizophrenia and other psychiatric disorders [3,4], and they are widely used to study illnesses such as Alzheimer's disease and cancer [5,6].…”

Section: Introductionmentioning

confidence: 99%

X-Aptamer Technology Identifies C4A and ApoB in Blood as Potential Markers for Schizophrenia

et al. 2018

View full text Add to dashboard Cite

The field of proteomics is rapidly gaining territory as a promising alternative to genomic approaches in the efforts to unravel the complex molecular mechanisms underlying schizophrenia and other psychiatric disorders. X-aptamer technology has emerged as a novel proteomic approach for high-sensitivity analyses, and we hypothesized that this technology would identify unique molecular signatures in plasma samples from schizophrenia patients (n = 60) compared to controls (n = 20). Using a combinatorial library of X-aptamer beads, we developed a two-color flow cytometer-based approach to identify specific X-aptamers that bound with high specificity to each target group. Based on this, we synthesized two unique X-aptamer sequences, and specific proteins pulled down from the patient and control groups by these X-aptamers were identified by mass spectrometry. We identified two protein biomarkers, complement component C4A and ApoB, upregulated in plasma samples from schizophrenia patients. ELISA validation suggested that the observed differences in C4 levels in patients are likely due to the presence of the illness itself, while ApoB may be a marker of antipsychotic-induced alterations. These studies highlight the utility of the X-aptamer technology in the identification of biomarkers for schizophrenia that will advance our understanding of the pathophysiological mechanisms of this disorder.

show abstract

“…While the growth of protein biomarkers is supported by the development of proteomics techniques, precision medicine clearly depends on the implementation of stratification and prognosis biomarkers assessing patient's risk of disease and/or anticipated response to treatment . Although the partition in Figure A suggests that the diagnostic biomarkers are still dominating, stratification and prognostic biomarkers are gradually gathering momentum through their use in ever increasing numbers of clinical trials, promising to have a significant impact on disease management.…”

Section: Discussionmentioning

confidence: 99%

Implementation of Proteomics in Clinical Trials

2019

Proteomics Clinical Apps

View full text Add to dashboard Cite

The application of protein (or peptide) biomarkers in clinical studies is a dynamic, ever-growing field. The introduction of clinical proteomics/peptidomics, such as mass spectrometry-based assays and multiplexed antibody-based protein arrays, has reshaped the landscape of biomarker identification and validation, allowing the discovery of novel biomarkers at an unprecedented rate and reliability. To reflect the current status with respect to implementation of protein/peptide biomarkers, an investigation of the most recent (last 6 years) clinical studies from clinicaltrials.gov is presented. Forty-two clinical trials involving the direct use of protein or peptide biomarkers in patient stratification and/or disease diagnosis and prognosis are highlighted. Most of the clinical trials that include proteomics/protein assays are aiming toward implementation of non-invasive diagnostic tools for early detection, while many of the clinical trials are targeting to correlate the protein abundance with the risk of a disease event. Less in number are the studies in which the protein biomarkers are applied to stratify the patients for intervention. All the above areas of application are considered of great importance for improving disease management, in an era where implementation toward precision medicine is the desired outcome of proteomics biomarker research.

show abstract

Clinical Proteomics for Precision Medicine: The Bladder Cancer Case

Cited by 25 publications

References 83 publications

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

X-Aptamer Technology Identifies C4A and ApoB in Blood as Potential Markers for Schizophrenia

Implementation of Proteomics in Clinical Trials

Contact Info

Product

Resources

About