Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have investigated the ATP-induced permeabilization of rat peritoneal mast cells using three different techniques: (a) by measuring uptake of fluorescent membrane and DNA marker dyes, (b) by voltage-clamp measurements using the patch-clamp technique, and (c) by measurements of exocytosis in response to entry of Ca2+ and GTP gamma S into permeabilized cells. In the absence of divalent cations cells become highly permeable at ATP concentrations as low as 3 microM. In normal saline containing 1 mM MgCl2 and 2 mM CaCl2, dye uptake and electric conductance are detectable at 100 microM ATP corresponding to 4 microM ATP4-. The permeabilization is half-maximal at an ATP4- concentration of 5-20 microM with a Hill coefficient near 2. The ATP-induced whole-cell conductance at saturating ATP concentrations was 35-70 nS, exhibiting only weak cation selectivity. The activation is very fast with a time constant less than or equal to 65 ms. Pores which are large enough to allow for permeation of substances of 300-900 D are expected to have a unit conductance of approximately 200-400 pS. However, in whole cells as well as outside-out patches, discrete openings and closings of channels could not be observed at a resolution of approximately 40 pS and the single-channel conductance obtained from noise analysis is approximately 2-10 pS. Entry of Ca2+ into cells permeabilized with ATP stimulates exocytosis at low but not at high ATP concentrations indicating loss of an essential intracellular component or components at a high degree of permeabilization. This inactivation is removed when GTP gamma S is provided in the medium and this leads to enhanced exocytosis. The enhancement only occurs at high ATP concentrations. These results strongly suggest that the ATP-induced pores are of variable size and can increase or decrease by very small units.
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PMID:ATP-induced pore formation in the plasma membrane of rat peritoneal mast cells. 218 68

The human immunoglobulin processed pseudogene C epsilon 3 (IGHEP2), which was assigned to chromosome 9 by somatic cell hybrid analysis, has not been regionally localized as yet. In this study, using fluorescence in situ hybridization (FISH) combined with conventional QFQ-, RBG- or GTG-banding, IGHEP2 was assigned to the p terminus region of chromosome 9, at band 9p24.2-->p24.1. This result suggests that the C epsilon 3 gene is a novel telomeric DNA marker useful not only for constructing the physical map of human chromosome 9 but also for cytogenetic analyses such as cryptic translocations. In addition, comparative mapping of this gene in other catarrhine primates would contribute to investigations of human and other primate karyotype evolution.
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PMID:Regional assignment of the human immunoglobulin processed pseudogene C epsilon 3 (IGHEP2) to 9p24.2-->p24.1 by fluorescence in situ hybridization. 828 90

This paper describes two patients with partial trisomy 9p and partial trisomy 14q due to 3:1 segregation from de novo maternal reciprocal translocations. The breakpoints are different from previously described 9;14 translocations and their 3:1 segregation products. The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome. We present the follow-up of both patients from birth up to age 7 years. Partial trisomy 9p is a frequently described chromosome abnormality. This does not appear to be related to a breakage sensitive locus on chromosome 9p, since the trisomic fragments of the published cases are heterogeneous. In the two cases described here, GTG-banded karyotyping suggested that the 9p breakpoints were similar; DNA marker analysis, however, showed them to be different. Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome.
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PMID:Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up. 1197 61