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  1. Article: MicroRNA: nouveaux biomarqueurs des pathologies tumorales.

    Bartels, Claudine L / Tsongalis, Gregory J

    Annales de biologie clinique

    2010  Volume 68, Issue 3, Page(s) 263–272

    Abstract: MicroRNAs (miRNAs), small RNA molecules of approximately 22 nucleotides, have been shown to be up- or downregulated in specific cell types and disease states. These molecules have become recognized as one of the major regulatory gatekeepers of coding ... ...

    Title translation MicroRNAs: novel biomarkers for human cancer.
    Abstract MicroRNAs (miRNAs), small RNA molecules of approximately 22 nucleotides, have been shown to be up- or downregulated in specific cell types and disease states. These molecules have become recognized as one of the major regulatory gatekeepers of coding genes in the human genome. We review the structure, nomenclature, mechanism of action, technologies used for miRNA detection, and associations of miRNAs with human cancer. miRNAs are produced in a tissue-specific manner, and changes in miRNA within a tissue type can be correlated with disease status. miRNAs appear to regulate mRNA translation and degradation via mechanisms that are dependent on the degree of complementarity between the miRNA and bead-based arrays, and quantitative real-time PCR. The tissue concentrations of specific miRNAs have been associated with tumor invasiveness, metastatic potential, and other clinical characteristics for several types of cancers, including chronic lymphocytic leukemia, and breast, colorectal, hepatic, lung, pancreatic, and prostate cancers. By targeting and controlling the expression of mRNA, miRNAs can control highly complex signal-transduction pathways and other biological pathways. The biologic roles of miRNAs in cancer suggest a correlation with prognosis and therapeutic outcome. Further investigation of these roles may lead to new approaches for the categorization, diagnosis, and treatment of human cancers.
    MeSH term(s) Genetic Markers ; Humans ; MicroRNAs/metabolism ; Neoplasms/diagnosis ; Neoplasms/genetics ; Polymerase Chain Reaction
    Chemical Substances Genetic Markers ; MicroRNAs
    Language French
    Publishing date 2010-05
    Publishing country France
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 418098-7
    ISSN 0003-3898
    ISSN 0003-3898
    DOI 10.1684/abc.2010.0429
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: MicroRNAs: novel biomarkers for human cancer.

    Bartels, Claudine L / Tsongalis, Gregory J

    Clinical chemistry

    2009  Volume 55, Issue 4, Page(s) 623–631

    Abstract: Background: MicroRNAs (miRNAs), small RNA molecules of approximately 22 nucleotides, have been shown to be up- or downregulated in specific cell types and disease states. These molecules have become recognized as one of the major regulatory gatekeepers ... ...

    Abstract Background: MicroRNAs (miRNAs), small RNA molecules of approximately 22 nucleotides, have been shown to be up- or downregulated in specific cell types and disease states. These molecules have become recognized as one of the major regulatory gatekeepers of coding genes in the human genome.
    Content: We review the structure, nomenclature, mechanism of action, technologies used for miRNA detection, and associations of miRNAs with human cancer. miRNAs are produced in a tissue-specific manner, and changes in miRNA within a tissue type can be correlated with disease status. miRNAs appear to regulate mRNA translation and degradation via mechanisms that are dependent on the degree of complementarity between the miRNA and mRNA molecules. miRNAs can be detected via several methods, such as microarrays, bead-based arrays, and quantitative real-time PCR. The tissue concentrations of specific miRNAs have been associated with tumor invasiveness, metastatic potential, and other clinical characteristics for several types of cancers, including chronic lymphocytic leukemia, and breast, colorectal, hepatic, lung, pancreatic, and prostate cancers.
    Summary: By targeting and controlling the expression of mRNA, miRNAs can control highly complex signal-transduction pathways and other biological pathways. The biologic roles of miRNAs in cancer suggest a correlation with prognosis and therapeutic outcome. Further investigation of these roles may lead to new approaches for the categorization, diagnosis, and treatment of human cancers.
    MeSH term(s) Animals ; Biomarkers, Tumor/genetics ; Gene Expression Regulation, Neoplastic ; Humans ; MicroRNAs/chemistry ; MicroRNAs/genetics ; Molecular Diagnostic Techniques ; Neoplasms/genetics ; Neoplasms/metabolism ; Nucleic Acid Conformation
    Chemical Substances Biomarkers, Tumor ; MicroRNAs
    Language English
    Publishing date 2009-02-26
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1373/clinchem.2008.112805
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Domains in the XPA protein important in its role as a processivity factor.

    Bartels, Claudine L / Lambert, Muriel W

    Biochemical and biophysical research communications

    2007  Volume 356, Issue 1, Page(s) 219–225

    Abstract: XPA is a protein essential for nucleotide excision repair (NER) where it is thought to function in damage recognition/verification. We have proposed an additional role, that of a processivity factor, conferring a processive mechanism of action on XPF and ...

    Abstract XPA is a protein essential for nucleotide excision repair (NER) where it is thought to function in damage recognition/verification. We have proposed an additional role, that of a processivity factor, conferring a processive mechanism of action on XPF and XPG, the endonucleases, involved in NER. The present study was undertaken to examine the domain(s) in the XPA gene that are important for the ability of the XPA protein to function as a processivity factor. Using site-directed mutagenesis, mutations were created in several of the exons of XPA and mutant XPA proteins produced. The results showed that the DNA binding domain of XPA is critical for its ability to act as a processivity factor. Mutations in both the zinc finger motif and the large basic cleft in this domain eliminated the ability of XPA to confer a processive mechanism of action on the endonucleases involved in NER.
    MeSH term(s) Binding Sites ; Cell Line ; DNA/genetics ; DNA/metabolism ; DNA/radiation effects ; DNA Damage ; DNA Repair/genetics ; DNA Repair/physiology ; DNA-Binding Proteins/metabolism ; Endonucleases/metabolism ; Humans ; Kinetics ; Mutagenesis, Site-Directed ; Mutation ; Nuclear Proteins/metabolism ; Protein Binding ; Recombinant Proteins/metabolism ; Transcription Factors/metabolism ; Ultraviolet Rays ; Xeroderma Pigmentosum Group A Protein/genetics ; Xeroderma Pigmentosum Group A Protein/metabolism ; Xeroderma Pigmentosum Group A Protein/physiology
    Chemical Substances DNA excision repair protein ERCC-5 ; DNA-Binding Proteins ; Nuclear Proteins ; Recombinant Proteins ; Transcription Factors ; Xeroderma Pigmentosum Group A Protein ; xeroderma pigmentosum group F protein ; DNA (9007-49-2) ; Endonucleases (EC 3.1.-)
    Language English
    Publishing date 2007-04-27
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 205723-2
    ISSN 0006-291X ; 0006-291X
    ISSN (online) 0006-291X
    ISSN 0006-291X
    DOI 10.1016/j.bbrc.2007.02.125
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Molecular oncology: current trends in diagnostics.

    Lefferts, Joel A / Bartels, Claudine L / Tsongalis, Gregory J

    Future oncology (London, England)

    2008  Volume 4, Issue 1, Page(s) 61–70

    Abstract: Applications of molecular diagnostics to oncology have been slow to make their way to the clinical laboratory. While numerous genes and mutation spectra have been found to be involved in tumorigenesis, it is only recently that these findings begin to ... ...

    Abstract Applications of molecular diagnostics to oncology have been slow to make their way to the clinical laboratory. While numerous genes and mutation spectra have been found to be involved in tumorigenesis, it is only recently that these findings begin to become useful in a clinical setting. Building on the technical knowledge obtained from molecular infectious disease testing, new instruments and assays have been developed to answer similar questions regarding qualitative, quantitative and genotyping issues. In this manuscript we describe two current examples of clinical molecular diagnostic applications, the assessment of BCR-ABL in chronic myelogenous leukemia patients and the detection of tumor cells in the sentinel lymph nodes of breast cancer patients, to demonstrate the role of molecular techniques in a routine clinical setting.
    MeSH term(s) Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Fusion Proteins, bcr-abl/analysis ; Genetic Techniques/instrumentation ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics ; Polymerase Chain Reaction/instrumentation ; Polymerase Chain Reaction/methods ; Sentinel Lymph Node Biopsy/methods
    Chemical Substances Fusion Proteins, bcr-abl (EC 2.7.10.2)
    Language English
    Publishing date 2008-02
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2184533-5
    ISSN 1744-8301 ; 1479-6694
    ISSN (online) 1744-8301
    ISSN 1479-6694
    DOI 10.2217/14796694.4.1.61
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Pharmacogenetics: where are we with respect to personalized medicine?

    Lefferts, Joel A / L Bartels, Claudine / Tsongalis, Gregory J

    Expert opinion on medical diagnostics

    2007  Volume 1, Issue 1, Page(s) 117–128

    Abstract: The application of genetic testing to predict how well or how poorly an individual will respond to a therapeutic drug is beginning to make its way into the clinical laboratory. As this testing begins to unfold in the clinical setting, there is a ... ...

    Abstract The application of genetic testing to predict how well or how poorly an individual will respond to a therapeutic drug is beginning to make its way into the clinical laboratory. As this testing begins to unfold in the clinical setting, there is a necessary paradigm change that must occur for the laboratory and for the healthcare provider in order for this to be successful. New molecular-based technologies are commercially available to perform this testing on a routine basis and several established examples of pharmacogenetic tests are currently being performed. Several national organizations are now working on practice guidelines for the incorporation of this testing into a clinical setting. This manuscript provides an overview of where we are with respect to pharmacogenetic testing.
    Language English
    Publishing date 2007-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393880-8
    ISSN 1753-0067 ; 1753-0059
    ISSN (online) 1753-0067
    ISSN 1753-0059
    DOI 10.1517/17530059.1.1.117
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency.

    Bartels, Claudine L / Marchetti, Angela L / Edward Highsmith, W / Tsongalis, Gregory J

    American journal of translational research

    2009  Volume 1, Issue 4, Page(s) 406–411

    Abstract: Alpha-1 antitrypsin (A1AT or AAT) is a serine protease inhibitor (PI) which, when present at low levels, can cause chronic obstructive pulmonary disease (COPD) and liver disease in both children and adults. Several mutations within the SERPINA1 gene have ...

    Abstract Alpha-1 antitrypsin (A1AT or AAT) is a serine protease inhibitor (PI) which, when present at low levels, can cause chronic obstructive pulmonary disease (COPD) and liver disease in both children and adults. Several mutations within the SERPINA1 gene have been found to cause this deficiency. The most common variants are PI*Z and PI*S, each caused by a single nucleotide polymorphism (SNP). We describe a real time polymerase chain reaction (PCR) assay for the rapid genotyping of these polymorphisms. DNA was extracted from fourteen EDTA-anticoagulated whole blood samples using the Qiagen EZ1 blood extraction kit. SNP genotyping was performed using primer/probe sets purchased from Applied Biosystems. These were evaluated for performance and assay conditions on the Applied Biosystems 7500 FAST System. The genotypes of these samples were compared with their phenotype results from isoelectric focusing assays, which were performed by an independent reference laboratory. In addition, twenty samples that were previously genotyped at another laboratory were obtained for accuracy studies. Thirty-four samples were tested; five genotypes were represented and the assay was able to discriminate these successfully. Only one genotype could not be correlated with its phenotype result, as the phenotype was reported as an "unidentified allele". All other genotyping results were concordant with previously determined genotypes and phenotypes. We describe a rapid real time PCR assay that is suitable for clinical use in genotyping AAT alleles and which can be used as the initial step in A1AT testing algorithms.
    Language English
    Publishing date 2009-08-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2471058-1
    ISSN 1943-8141 ; 1943-8141
    ISSN (online) 1943-8141
    ISSN 1943-8141
    Database MEDical Literature Analysis and Retrieval System OnLINE

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