Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Reference systems in clinical chemistry, whether loosely structured or highly organized like the National Reference System for Clinical Chemistry (NRSCC) in the USA are built upon an assemblage of interrelated materials, methods, and agreements. For example, the NRSCC Council has accepted the following items for the measurement of total calcium in human serum: 1) the Reporting Unit (the SI non-coherent molar concentration unit-mmol/l), 2) a Certified Reference Material (NBS/SRM 915 CaCO3), 3) a Definitive Method (IDMS) and 4) a Reference Method (FAAS). Recently, the IDMS measured calcium value has become available on a freeze-dried human serum (NBS/SRM 909) and allows the direct accessment of the accuracy of routine methods, instrument systems, calibrators and control materials. Utilizing the NRSCC reference method and materials for total calcium measurements and the Radiometer System (ICA1) for ionized Ca2+ measurements, we have begun to ask the question, "What are the essential items in a reference system for ionized calcium?" As expected, our initial explorations reveal more problems than answers, thus our very limited and unsophisticated initial data will be presented primarily as a means to ensure discussion. Despite, the electrochemical complexity of the electrochemical interactions, and the technologic differences from one measuring system to another, it is my belief that a reference system capable of widespread acceptance for ionized Ca2+ must be introduced to ensure the long-term integrity and interlaboratory compatibility of this vital physiological measurement.
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PMID:A reference system for ionized calcium. 657 76

Islet cell autoantigen 69-kDa (ICA69), protein product of the human ICA1 gene, is one target of the immune processes defining the pathogenesis of Type 1 diabetes. We have characterized the genomic structure and functional promoters within the 5'-regulatory region of ICA1. 5'-RNA ligase-mediated rapid amplification of cDNA ends evaluation of ICA1 transcripts expressed in human islets, testis, heart, and cultured neuroblastoma cells reveals that three 5'-untranslated region exons are variably expressed from the ICA1 gene in a tissue-specific manner. Surrounding the transcription initiation sites are motifs characteristic of non-TATA, non-CAAT, GC-rich promoters, including consensus Sp1/GC boxes, an initiator element, cAMP-responsive element-binding protein (CREB) sites, and clusters of other putative transcription factor sites within a genomic CpG island. Luciferase reporter constructs demonstrate that the first two ICA1 exon promoters reciprocally stimulate luciferase expression within islet- (RIN 1046-38 cells) and brain-derived (NMB7) cells in culture; the exon A promoter exhibits greater activity in islet cells, whereas the exon B promoter more efficiently activates transcription in neuronal cells. Mutation of a CREB site within the ICA1 exon B promoter significantly enhances transcriptional activity in both cell lines. Our basic understanding of expression from the functional core promoter elements of ICA1 is an important advance that will not only add to our knowledge of the ICA69 autoantigen but will also facilitate a rational approach to discover the function of ICA69 and to identify relevant ICA1 promoter polymorphisms and their potential associations with disease.
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PMID:Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus. 1240 89