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  • 1
    Electronic Resource
    Electronic Resource
    Blunted effect of parathyroid hormone on adenosine 3′,5′-cyclic monophosphate production is derived from ATP depletion in proximal convoluted tubules of hypophosphatemic mice (2000)
    Springer
    Clinical and experimental nephrology 4 (2000), S. 11-17 
    Details
    ISSN: 1437-7799
    Keywords: Key words Extracellular phosphate ; Hypophosphatemic mice ; Adenosine 3′,5′-cyclic monophosphate ; Parathyroid hormone ; X-linked hypophosphatemic rickets
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. To clarify the pathophysiological features associated with phosphate depletion in hypophosphatemic (Hyp) mice, we examined the effect of extracellular phosphate on parathyroid hormone (PTH)-stimulated adenosine 3′,5′-cyclic monophosphate (cAMP) production in the proximal convoluted tubules (PCT). Methods. PTH-Stimulated cAMP production and ATP content were determined by radioimmunoassay and luciferin-luciferase chemiluminescence methods, respectively. Results. The level of cAMP stimulated by PTH at an extracellular phosphate concentration of 0.78 mM was lower in the Hyp mice than in normal mice. The PTH-stimulated cAMP production in the Hyp mice was increased when the extracellular phosphate concentration was raised. In contrast, an increase in extracellular phosphate did not affect the PTH-stimulated cAMP production in the normal mice. Although the ATP content of the PCT was not different between the normal and Hyp mice immediately after microdissection, after 60 min of incubation, it had decreased to a greater extent in Hyp mice than in the normal animals. Raising the extracellular phosphate concentration from 0.78 to 2.3 mM prevented the decrease in ATP content in Hyp mice, and the intracellular ATP content then became comparable to that in the normal control. Conclusions. These results suggest that ATP content in the PCT tended to be decreased in Hyp mice by a decreased phosphate supply and that the blunted effect of PTH on cAMP production in these mice is due to ATP depletion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101570050055
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  • 2
    Electronic Resource
    Electronic Resource
    Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence (2000)
    Springer
    Journal of human genetics 45 (2000), S. 167-170 
    Details
    ISSN: 1435-232X
    Keywords: Key wordsDCX gene ; Subcortical laminar heterotopia ; Isolated lissencephaly sequence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We examined mutations of the doublecortin (DCX) gene, which is responsible for X-linked subcortical laminar heterotopia (SCLH) and lissencephaly, in eight unrelated Japanese patients, four with SCLH and four with isolated lissencephaly sequence (ILS). Polymerase chain reaction (PCR) disclosed a deletion of part of the DCX gene in one male ILS patient. Single-strand conformational polymorphism analysis and subsequent sequence analysis were carried out in the remaining seven patients. One male ILS patient had a nonsense mutation in exon V, which would result in premature termination of the gene product. One female SCLH patient had a missense mutation in exon IV. Our results indicate that in the Japanese, as has been seen elsewhere, abnormality of the DCX gene is the common cause of SCLH and ILS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050204
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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