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  • 1
    Electronic Resource
    Electronic Resource
    A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism (1997)
    Springer
    Diabetologia 40 (1997), S. 412-420 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Insulin resistance syndrome ; mutation ; genotype ; phenotype ; tyrosine kinase.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report a homozygous missense mutation at position 1092 (substitution of glutamine for arginine) in the tyrosine kinase domain of the insulin receptor in a patient with leprechaunism associated with severe insulin resistance and intrauterine growth retardation. Site-directed mutagenesis as well as analyses of the patient's lymphocytes revealed that this mutation causes a marked decrease in tyrosine kinase activity of the insulin receptor without any defect in insulin binding, which causes severe defects in insulin-stimulated glucose transport, glycogen synthesis and DNA synthesis. Thus, this is the first homozygous mutation resulting in a selective-kinase defect of the insulin receptor. Interestingly, the parents who are cousins and are heterozygous for the mutation have type A insulin resistance syndrome. This correlation between genotype and phenotype in a single pedigree suggests that the severity of the mutation will determine the phenotype. Based upon this assumption, we have been successful in prenatal diagnosis of the fifth child. Furthermore, we have demonstrated the effectiveness of clinical administration of insulin-like growth factor-I (IGF-I) in this patient and in vitro analysis of the patient's skin fibroblasts, suggesting that IGF-I can compensate for insulin action via the IGF-I receptor in a patient almost lacking functional insulin receptors. [Diabetologia (1997) 40: 412–420]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050695
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  • 2
    Electronic Resource
    Electronic Resource
    Role of JTT-501, a new insulin sensitiser, in restoring impaired GLUT4 translocation in adipocytes of rats fed a high fat diet (1998)
    Springer
    Diabetologia 41 (1998), S. 400-409 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Insulin sensitiser ; isoxazolidinedione ; JTT-501 ; GLUT4 ; phosphatidylinositol 3-kinase ; high fat diet ; adipocyte.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary JTT-501 is an insulin-sensitising compound with an isoxazolidinedione rather than a thiazolidionedione structure. Sprague-Dawley rats fed a high fat diet for 2 weeks were used as an animal model of insulin resistance, and JTT-501 was administered for the final week of the diet. An euglycaemic glucose clamp study showed that the glucose infusion rate (GIR) required to maintain euglycaemia was 57 % lower in rats fed a high fat diet than in control rats, and that JTT-501 treatment restored the reduction in GIR produced by the high fat diet. To explain the mechanisms underlying the effects of a high fat diet and JTT-501 treatment, epididymal fat pads were excised and used in the analysis of insulin action. The high fat diet caused: (1) a 58 % decrease in insulin receptor substrate-1 (IRS-1) content with a 58 % decrease in IRS-1 tyrosine phosphorylation; (2) reductions of 56 % and 73 % respectively in insulin-induced maximal PI 3-kinase activation in anti-phosphotyrosine and anti-IRS-1 antibody immunoprecipitates; (3) a 46 % reduction in the glucose transporter protein, GLUT4 content and, consequently, (4) severely impaired insulin-induced GLUT4 translocation to the plasma membrane and glucose uptake in adipocytes. JTT-501 treatment restored appreciably the protein content and tyrosine phosphorylation level of IRS-1. Insulin-stimulated PI 3-kinase activation was also restored in anti-phosphotyrosine and anti-IRS-1 antibody immunoprecipitates. As reflected by these improvements in insulin signalling, JTT-501 treatment improved considerably insulin-induced GLUT4 translocation to the plasma membrane as well as insulin-induced glucose uptake. However, JTT-501 had no effect on the decrease in GLUT4 content produced by the high fat diet. These observations suggest that JTT-501 enhances insulin signalling and may be effective in reducing insulin resistance. [Diabetologia (1998) 41: 400–409]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050922
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  • 3
    Electronic Resource
    Electronic Resource
    Juvenile Parkinson's disease with widespread Lewy bodies in the brain (1988)
    Springer
    Acta neuropathologica 77 (1988), S. 213-218 
    Details
    ISSN: 1432-0533
    Keywords: Juvenile Parkinson's disease ; Classical Parkinson's disease ; Clinico-pathological comparison ; Lewy body distribution ; Dementia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A clinico-pathological case report on a case of juvenile Parkinson's disease (JPD) with widespread Lewy bodies (LBs) in the brain is presented with comparative morphological studies on two demented cases of “classical” Parkinson's disease (CPD) with disease onset at an older age. The clinical and histological pictures of this JPD case were typical of Parkinson's disease, excepting numerous Lewy bodies in the cerebrum. There were no neurofibrillary change nor senile plaques throughout the CNS. The distribution and histochemical and ultrastructural characters of the histological lesions (i.e., LBs) in the JPD and the two CPD cases were investigated and compared. The comparison showed no qualitative but only quantitative differences between the two types of Parkinson's disease. The present study also revealed that in CPD cases significant numbers of LBs could be present in the cerebral cortex, amygdaloid and claustrum. These lesions can be in part responsible for dementia in CPD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687434
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  • 4
    Electronic Resource
    Electronic Resource
    Intrahepatic cholangiocarcinoma with marked hypervascularity (1999)
    Springer
    Abdominal imaging 24 (1999), S. 66-68 
    Details
    ISSN: 1432-0509
    Keywords: Key words: Intrahepatic cholangiocarcinoma—Hypervascular.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two rare cases of small intrahepatic cholangiocarcinoma with marked hypervascularity are reported. Dynamic computed tomographic and magnetic resonance images of the two cases revealed strong enhancement of the whole tumor on the early phase and prolonged enhancement on the late and delayed phases. In both cases, the tumors turned out to be well-differentiated tubular cholangiocarcinoma that contained a large number of tumor cells and few interstitial fibrous tissues. These results suggest that some intrahepatic cholangiocarcinoma should be differentiated from other hypervascular hepatic tumors, especially hepatocelluar carcinoma, and that prolonged enhancement of the tumor on late and delayed phases of dynamic images could be of diagnostic value.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002619900442
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  • 5
    Electronic Resource
    Electronic Resource
    Characterization of a P-type Copper-Stimulated ATPase from Mouse Liver (1999)
    Springer
    The journal of membrane biology 170 (1999), S. 13-16 
    Details
    ISSN: 1432-1424
    Keywords: Key words: Copper — P-type ATPase — ATPase activity — Acylphosphate formation — Iron — Liver
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract. Mouse liver microsomes treated with octylthioglucoside (OTG-microsomes) were examined for copper-stimulated ATPase activity. The activity was about 1 μmol Pi/mg protein/hr under optimal conditions [300 mm KCl, 3 mm MgSO4, 10 mm GSH, 0.5 μm CuSO4, 3 mm ATP and 50 mm acetate buffer at pH5.0]. A reducing agent such as GSH or dithiothreitol was required for the activity, and removal of Cu+ from the reaction mixture by bathocuporinedisulfonate resulted in a complete loss of copper-stimulated ATPase activity. Vanadate inhibited the copper-stimulated ATPase activity. The OTG-microsomes were phosphorylated in a hydroxylamine-sensitive and copper-stimulated way. Iron used instead of copper also stimulated both ATPase and phosphorylation. These results suggest that microsomes from mouse liver contain copper/iron-stimulated P-type ATPase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002329900533
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  • 6
    Electronic Resource
    Electronic Resource
    The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 1-5 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract De novo chromosome structural abnormalities cannot always be diagnosed by the use of standard cytogenetic techniques. We applied a previously developed chromosome-band-specific painting method to the diagnosis of such rearrangements. The diagnostic procedures consisted of microdissection of an aberrant chromosomal region of a given patient, polymerase chain reaction (PCR) amplification of the dissected chromosomal DNA, and subsequent competitive fluorescence in situ hybridization (FISH) using the PCR products as a probe pool on metaphase chromosomes from the patient and/or a karyotypically normal person. With this strategy, we studied 6 de novo rearrangements (6p+, 6q+, 9p+, 17p+, +mar, and +mar) in 6 patients. These rearrangements had been seen by conventional banding but their origin could not be identified. In all 6 patients, we successfully ascertained the origin. Using an aberrant region-specific probe pool, FISH signals appeared on both the aberrant region and a region of another specific chromosome pair. A reverse probe pool that was generated through the microdissection of normal chromosomes at a candidate region for the origin of the aberration hybridized with both the aberrant and the candidate regions. We thus diagnosed one patient with 17p+ as having trisomy for 14q32-qter, one with 9p+ as having trisomy for 12pter-p12, one with 6q+ as having a tandem duplication (trisomy) of a 6q23-q25 segment, one with 6p+ as having a tandem duplication (trisomy) of a 6p23-q21.3 segment, one with a supernumerary metacentric marker chromosome as having tetrasomy for 18pter-cen, and the last with an additional small marker chromosome as having trisomy for 18p11.1 (or p11.2)-q11.2. The present targeted chromosome-band-painting method provides the simple and rapid preparation of a probe pool for region-specific FISH, and is useful for the diagnosis of chromosome abnormalities of unknown origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216136
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  • 7
    Electronic Resource
    Electronic Resource
    A spatio-temporal model of ganglion cell receptive field in the cat retina (1986)
    Springer
    Biological cybernetics 54 (1986), S. 91-98 
    Details
    ISSN: 1432-0770
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Computer Science , Physics
    Notes: Abstract A spatio-temporal model of ganglion cell receptive fields is proposed on the basis of receptive field characteristics of cat retinal ganglion cells reported in our previous paper. The model consists of the linear and nonlinear mechanisms in the ganglion cell receptive field. The linear mechanism is assumed to be composed of antagonistic center and surround mechanisms. Then, by integrating these mechanisms we construct a spatio-temporal impulse response function of ganglion cell receptive field. Here we assume that spatio-temporal impulse response function may be factored into spatial and temporal terms. By Fouriertransforming the spatio-temporal impulse response function, we can obtain the spatio-temporal transfer function. Contrast sensitivity characteristics of X-and Y-cells in the cat retina may be explained by the transfer function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00320479
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  • 8
    Electronic Resource
    Electronic Resource
    Are Down syndrome patients predisposed to Moyamoya disease? (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 516-517 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441756
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  • 9
    Electronic Resource
    Electronic Resource
    Effect of shear stress and free radicals induced by ultrasound on erythrocytes
    Amsterdam : Elsevier
    Archives of Biochemistry and Biophysics 269 (1989), S. 381-389 
    Details
    ISSN: 0003-9861
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0003-9861(89)90121-5
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  • 10
    Electronic Resource
    Electronic Resource
    Na^+,K^+-ATPase inhibition by an endogenous peptide, SPAI-1, isolated from porcine duodenum
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Biomembranes 1069 (1991), S. 259-266 
    Details
    ISSN: 0005-2736
    Keywords: (Porcine duodenum) ; ATPase ; ATPase inhibitor ; Endogenous peptide ; Na^+/K^+- ; Peptide ; SPAI-1
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0005-2736(91)90133-S
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