Abstract:
:Prenatal diagnosis is now offered to high-risk pregnancies, including advanced maternal age, ultrasound anomalies and positive Down's syndrome screening, and karyotype on cultured fetal material is the test of choice to screen these pregnancies. However, microscope analysis can only detect gross chromosome abnormalities, highlighting the need for more sensitive techniques. It has recently been established that the higher resolution of microarray-based platforms can increase the diagnostic yield, offering more information to couples, and it is being discussed as a replacement to the standard karyotype. Conversely, the very high sensitivity of microarray-based analysis allows us to detect small microdeletions/microduplications (copy number variations) with unknown functional role and difficult genotype/phenotype correlation. In addition, the new copy number variation syndromes are often associated with variable outcomes, ranging from normal to severely affected individuals. This means that the microarray-based analysis introduced routinely in prenatal diagnosis needs to answer the question: are laboratory staff, clinical geneticists and counselors really experienced enough to manage these new scenarios?
journal_name
Expert Rev Proteomicsjournal_title
Expert review of proteomicsauthors
Novelli A,Cavalli P,Bernardini Ldoi
10.1586/epr.13.9subject
Has Abstractpub_date
2013-04-01 00:00:00pages
131-4issue
2eissn
1478-9450issn
1744-8387journal_volume
10pub_type
评论,杂志文章abstract::Viruses have coevolved with their hosts, acquiring strategies to subvert host cellular pathways for effective viral replication and spread. Human cytomegalovirus (HCMV), a widely-spread β-herpesvirus, is a major cause of birth defects and opportunistic infections in HIV-1/AIDS patients. HCMV displays an intricate syst...
journal_title:Expert review of proteomics
pub_type: 杂志文章
doi:10.1586/14789450.2014.971116
更新日期:2014-12-01 00:00:00
abstract::In recent years, MALDI imaging mass spectrometry (MALDI-IMS) has developed as a promising tool to investigate the spatial distribution of biomolecules in intact tissue specimens. Ion densities of various molecules can be displayed as heat maps while preserving anatomical structures. In this short review, an overview o...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.2013.814939
更新日期:2013-08-01 00:00:00
abstract:INTRODUCTION:The human respiratory system is highly prone to diseases and complications. Many lung diseases, including lung cancer (LC), tuberculosis (TB), and chronic obstructive pulmonary disease (COPD) have been among the most common causes of death worldwide. Cystic fibrosis (CF), the most common genetic disease in...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1080/14789450.2017.1417847
更新日期:2018-02-01 00:00:00
abstract::Neurodegenerative diseases are devastating disorders and the demands on their treatment are set to rise in connection with higher disease incidence. Knowledge of the spatiotemporal profile of cellular protein expression during neural differentiation and definition of a set of markers highly specific for targeted neura...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.2015.977381
更新日期:2015-02-01 00:00:00
abstract::The Central and Eastern European Proteomic Conference (CEEPC) proudly celebrated its 10th Anniversary with an exciting scientific program inclusive of proteome, proteomics and systems biology in Budapest, Hungary. Since 2007, CEEPC has represented 'state-of the-art' proteomics in and around Central and Eastern Europe ...
journal_title:Expert review of proteomics
pub_type: 杂志文章
doi:10.1080/14789450.2017.1339604
更新日期:2017-07-01 00:00:00
abstract::Introduction: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) has entered clinical diagnostics and is today a generally accepted and integral part of the workflow for microbial identification. MALDI-TOF MS identification systems received approval from national and internatio...
journal_title:Expert review of proteomics
pub_type: 杂志文章
doi:10.1080/14789450.2019.1645603
更新日期:2019-08-01 00:00:00
abstract::Macrophages, originating from the migration and differentiation of circulating monocytes into virtually all tissues, are extremely flexible and plastic cells that play vital homeostatic roles, but also contribute to the pathophysiology of many human diseases. For these reasons, they are intensively studied by differen...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/epr.12.11
更新日期:2012-04-01 00:00:00
abstract::A major goal of proteomics is to develop methods that enable the systematic characterization of every protein within the cell or particular subcellular proteome using a single analytical platform. Although the equivalent has already been achieved in genomics, reaching this goal in proteomics represents a much greater ...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.1.2.153
更新日期:2004-08-01 00:00:00
abstract::Tissue microarrays are a high-throughput method for the investigation of biomarkers in multiple tissue specimens at once. This technique allows for the analysis of up to 500 tissue samples in a single experiment using immunohistochemistry and in situ hybridization. Recently, cell lines and xenografts have been reduced...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.2.3.325
更新日期:2005-06-01 00:00:00
abstract::Huntington's disease (HD) is caused by expansion of a polyglutamine repeat in the N-terminal region of huntingtin (htt), a large protein that has been found to interact with a variety of proteins. It remains to be determined how the interactions of htt with other proteins are involved in the pathogenesis of HD. A rece...
journal_title:Expert review of proteomics
pub_type: 评论,杂志文章
doi:10.1586/epr.11.72
更新日期:2012-01-01 00:00:00
abstract::Introduction: Degradation of proteins by cellular proteasomes is critical for the fidelity of protein homeostasis and proper cell function. Indeed, perturbations in proteasome function, as well as the degradation of specific substrates, are associated with a variety of human diseases. Yet, monitoring and analyzing pro...
journal_title:Expert review of proteomics
pub_type: 杂志文章
doi:10.1080/14789450.2019.1645601
更新日期:2019-07-19 00:00:00
abstract::Normal multipotent tissue stem cells (SCs) are the driving force behind tissue turnover and repair. The cancer stem cell theory holds that tumors also contain stem-like cells that drive tumor growth and metastasis formation. However, very little is known about the regulation of SC maintenance pathways in cancer and ho...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/epr.12.24
更新日期:2012-06-01 00:00:00
abstract::Proteomics and the study of protein-protein interactions are becoming increasingly important in our effort to understand human diseases on a system-wide level. Thanks to the development and curation of protein-interaction databases, up-to-date information on these interaction networks is accessible and publicly availa...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/epr.09.86
更新日期:2009-12-01 00:00:00
abstract:INTRODUCTION:In several biomedical research fields, the cross-linking of peptides and proteins has an important impact on health and wellbeing. It is therefore of crucial importance to study this class of post-translational modifications in detail. The huge potential of mass spectrometric technologies in the mapping of...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1080/14789450.2017.1362336
更新日期:2017-10-01 00:00:00
abstract:INTRODUCTION:Unwanted platelet activation is associated with numerous diseases, mainly thrombosis-related. In this context, proteomics has emerged as a novel tool with potential for drug target discovery and to scrutinize the effects of antiplatelet drugs. Areas covered: The present review presents the main findings of...
journal_title:Expert review of proteomics
pub_type: 杂志文章
doi:10.1080/14789450.2016.1246188
更新日期:2016-11-01 00:00:00
abstract::There are several lines of evidence that the modification of proteins by cytosolic- and nuclear-specific O-linked N-acetylglucosamine (O-GlcNAc) glycosylation is closely related to neuropathologies, particularly Alzheimer's disease. Several neuronal proteins have been identified as being modified with O-GlcNAc; these ...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.2.2.265
更新日期:2005-04-01 00:00:00
abstract::A panel of biomarkers for the early detection of bladder cancer has not yet been identified. Many different molecules, including DNA, RNA or proteins have been reported but none have provided adequate sensitivity for a single-tier screening test or a test to replace cystoscopy. Therefore, multimarker panels are discus...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/epr.10.82
更新日期:2010-12-01 00:00:00
abstract:INTRODUCTION:The lack of biomarkers indicating involved nociceptive and/or pain mechanisms makes diagnostic procedures problematic. Clinical pain research has begun to use proteomics. AREAS COVERED:This systematic review covers proteomic studies of chronic pain cohorts and in relation to clinical variables. Searches i...
journal_title:Expert review of proteomics
pub_type: 杂志文章
doi:10.1080/14789450.2020.1797499
更新日期:2020-06-01 00:00:00
abstract::Ovarian cancer is the fifth leading cause of cancer deaths among North American women. Regrettably, there is currently no reliable circulating biomarker that can detect ovarian cancer in its early stages. The CA125 biomarker is very useful for treatment response monitoring, but its sensitivity is very low for early de...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.4.1.121
更新日期:2007-02-01 00:00:00
abstract::There is a wealth of knowledge in the field of in vitro diagnostics with regard to preanalytical variables and their impact on the determination of peptide and protein analytes in human serum and plasma. This information is applicable to clinical proteomics investigations, which utilize the same sample types. Studies ...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.3.4.409
更新日期:2006-08-01 00:00:00
abstract:INTRODUCTION:Mass spectrometry (MS) is widely used in the characterization of biomolecules including peptide and protein therapeutics. These biotechnology products have seen rapid growth over the past few decades and continue to dominate the global pharmaceutical market. Advances in MS instrumentation and techniques ha...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1080/14789450.2018.1469982
更新日期:2018-05-01 00:00:00
abstract:INTRODUCTION:Breast cancer subtypes are currently defined by a combination of morphologic, genomic, and proteomic characteristics. These subtypes provide a molecular portrait of the tumor that aids diagnosis, prognosis, and treatment escalation/de-escalation options. Gene expression signatures describing intrinsic brea...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1080/14789450.2018.1421071
更新日期:2018-02-01 00:00:00
abstract::The isolation of neural stem cells from fetal and adult mammalian CNS and the demonstration of functional neurogenesis in adult CNS have offered perspectives for treatment of many devastating hereditary and acquired neurological diseases. Due to this enormous potential, neural stem cells are a subject of extensive mol...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.5.2.175
更新日期:2008-04-01 00:00:00
abstract::Atherothrombosis is the primary cause of death in Western countries. The cellular and molecular mechanisms underlying atherosclerosis remain widely unknown. The complex nature of atherosclerotic cardiovascular diseases demands the development of novel technologies that enable discovery of new biomarkers for early dise...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.4.2.249
更新日期:2007-04-01 00:00:00
abstract::Numerous efforts have been made to understand fundamental biology of diseases based on gene expression. However, the relationship between gene expression and onset of disease often remains obscure. The great advances in protein microarrays allow us to investigate this unclear question through protein profiles, which a...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/epr.12.67
更新日期:2013-02-01 00:00:00
abstract::The challenges encountered by proteomic researchers seeking diagnostic, prognostic and mechanistic markers were the subject of the 1-day meeting, Proteomics: Advances in Biomarker Discovery hosted by EuroSciCon. The speakers had a broad range of clinical and basic science interests, and presented data using a number o...
journal_title:Expert review of proteomics
pub_type:
doi:10.1586/14789450.5.1.21
更新日期:2008-02-01 00:00:00
abstract::Introduction: Autophagy is one of the most conserved clearance systems through which eukaryotes manage to handle dysfunctional and excess organelles and macromolecules. This catabolic process has not only a role in the maintenance of basal turnover of cellular components, but it is also essential in cells adaptation t...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1080/14789450.2019.1691919
更新日期:2019-01-01 00:00:00
abstract::Organellar proteomics aims to describe the full complement of proteins of subcellular structures and organelles. When compared with whole-cell or whole-tissue proteomes, the more focused results from subcellular proteomic studies have yielded relatively simpler datasets from which biologically relevant information can...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.5.4.603
更新日期:2008-08-01 00:00:00
abstract:INTRODUCTION:Auto-immunity against pancreatic beta-cells leads to an absolute shortage of the hormone insulin, resulting in hyperglycemia and the onset of type 1 diabetes (T1D). Proteomic approaches have been used to elucidate the mechanisms of beta-cell dysfunction and death. Areas covered: In the present review, we d...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1080/14789450.2017.1345633
更新日期:2017-07-01 00:00:00
abstract::The vascular endothelium lining the luminal surface of all blood vessels is constantly exposed to shear stress exerted by the flowing blood. Blood flow with high laminar shear stress confers protection by activation of antiatherogenic, antithrombotic and anti-inflammatory proteins, whereas low or oscillatory shear str...
journal_title:Expert review of proteomics
pub_type: 杂志文章,评审
doi:10.1586/14789450.2014.933673
更新日期:2014-10-01 00:00:00