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  • 1
    ISSN: 1432-0428
    Keywords: Keywords MODY ; HNF-1α ; insulin ; arginine ; mutation.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. Mutations in the hepatocyte nuclear factor-1α gene are a common cause of the type 3 form of maturity-onset diabetes of the young. We examined the clinical features and molecular basis of hepatocyte nuclear factor-1α (HNF-1α) diabetes. Methods. Thirty-seven Japanese subjects with early onset Type II (non-insulin-dependent) diabetes mellitus and 45 with Type I (insulin-dependent) diabetes mellitus were screened for mutations in this gene. Functional properties of mutant HNF-1α were also investigated. Results. Three new mutations [G415R, R272C and A site of the promoter ( + 102G-to-C)] were found. Insulin secretion was impaired in the three subjects. Insulin and glucagon secretory responses to arginine in the subject with the R272C mutation were also diminished. Molecular biological studies indicated that the G415R mutation generated a protein with about 50 % of the activity of wild-type HNF-1α. The R272C mutation had no transactivating or DNA binding activity and acted in a dominant negative manner. The + 102 G-to-C mutation in the A site of the promoter activity was associated with an increase in promoter activity and it had 42–75 % more activity than the wild-type sequence. Conclusion/interpretation. Mutations in the HNF-1α gene may affect the normal islet function by different molecular mechanisms. [Diabetologia (1999) 42: 621–626]
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: ALS ; Spinal cord ; Propriospinal neuron ; Anterior horn cell ; Quantitative study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary To elucidate the degenerating mechanism of the neurons in the intermediate zone of the spinal cord in classical amyotrophic lateral sclerosis (ALS), the spinal neurons in a patient with ALS, whose muscular strength was fairly well preserved up to death, were examined quantitatively and topographically, and compared with the data of advanced ALS patients and age-matched control subjects reported previously. In advanced ALS patients, anterior horn cells completely disappeared and the medium-sized (nuclear area; 71–150 μm2) and large (nuclear area; greater than 151 μm2) neurons in the intermediate zone were severely reduced. In the present case, however, the loss of anterior horn cells was severe but the degree was not equal to that of advanced ALS patients, and the neurons in the intermediate zone were quite well preserved. The finding indicates that the primary degeneration may occur in the anterior horn cells and the neurons in the intermediae zone degenerate sequentially in the spinal gray matter in ALS.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0533
    Keywords: Parkinson's disease ; Lewy body ; Dorsal group of nucleus intermediolateralis sacralis ; Parasympathetic neuron
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Lewy bodies were observed incidentally in the neurons of the dorsal group of nucleus intermediolateralis of the 3rd sacral segment of the spinal cord in a 74-year-old male with Parkinson's disease. The findings indicate the degeneration of the preganglionic parasympathetic neurons innervating the internal anal sphincter. The correlation between the findings and the mechanism of constipation in this disease are discussed.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0533
    Keywords: Corticobasal degeneration ; Ultrastructure ; Tau ; Glial inclusions ; Progressive supranuclear palsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have studied brain tissues from three patients with corticobasal degeneration (CBD) histologically, ultrastructurally and immunohistochemically. Ballooned neurons in the cerebral cortex and severe degeneration of the substantia nigra were observed in them all and weakly basophilic neurofibrillary tangles (NFTs) were distributed widely in the basal ganglia and brain stem. Ultrastructural examination demonstrated that the NFTs comprised characteristic 15-nm-wide straight tubules, which showed positive immunohistochemical staining with an antibody against tau, but not ubiquitin. Tau-immunoreactive neuronal cell bodies without NFTs also were found in the cerebral cortex and subcortical nuclei, predominantly in the brain stem, and the greatest number of tau-positive glial inclusions occurred in the cerebral gray and white matter of the pre- and post-central gyri. These inclusions comprised tubular structures with diameters of about 15 nm and were localized in the oligodendroglial cellular cytoplasm and processes. These findings indicate that there is a close cytoskeletal pathological relationship between CBD and progressive supranuclear palsy.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0533
    Keywords: HTLV-I-associated myelopathy ; Spinal cord lesion ; Electron microscopy ; Primary demyelination ; Remyelination by oligodendrocytes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We describe postmortem findings in a patient with human T lymphotropic virus type I (HTLV-I)-as-sociated myelopathy (HAM). The patient developed the disease 8 years after blood transfusion and showed good response to corticosteroid treatment but died of cardiac failure. Histologically, chronic, mild meningoence-phalomyelitis was noted predominantly involving the bilateral lateral and anterior columns of the middle to lower thoracic segments. The spinal cord lesions showed obvious loss of myelinated nerve fibers and fibrillary gliosis with minimal inflammatory cell infiltration. Electron microscopy of the lesion revealed disintegration of the myelin sheaths, regular separation of the minor dense line of the myelin sheaths, and completely demyelinated axons. In addition, remyelinated fibers with thin central myelin sheaths and disproportionately large axons were seen frequently. These findings indicate that primary demyelination and remyelination by oligodendrocytes occur in the spinal cord lesions of HAM.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-0533
    Keywords: KeyWordsCorticobasal degeneration Ultrastructure ; Tau ; Glial inclusions Progressive supranuclear palsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have studied brain tissues from three patients with corticobasal degeneration (CBD) histologically, ultrastructurally and immunohistochemically. Ballooned neurons in the cerebral cortex and severe degeneration of the substantia nigra were observed in them all and weakly basophilic neurofibrillary tangles (NFTs) were distributed widely in the basal ganglia and brain stem. Ultrastructural examination demonstrated that the NFTs comprised characteristic 15-nm-wide straight tubules, which showed positive immunohistochemical staining with an antibody against tau, but not ubiquitin. Tau-immunoreactive neuronal cell bodies without NFTs also were found in the cerebral cortex and subcortical nuclei, predominantly in the brain stem, and the greatest number of tau-positive glial inclusions occurred in the cerebral gray and white matter of the pre- and postcentral gyri. These inclusions comprised tubular structures with diameters of about 15 nm and were localized in the oligodendroglial cellular cytoplasm and processes. These findings indicate that there is a close cytoskeletal pathological relationship between CBD and progressive supranuclear palsy.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Biological cybernetics 66 (1991), S. 19-25 
    ISSN: 1432-0770
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Computer Science , Physics
    Notes: Abstract Effects of membrane current noise on spike propagation along a nerve fiber are studied. Additive current noise and channel noise are considered by using stochastic versions of the Hodgkin-Huxley model. The results of computer simulation show that the membrane noise causes considerable variation of the propagation time of a spike (thus changes in interspike intervals) for a small unmyelinated fiber of radius 0.1∼1 μm.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Nuclear Physics, Section A 580 (1994), S. 291-311 
    ISSN: 0375-9474
    Keywords: Atomic physics
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Nuclear Physics, Section A 345 (1980), S. 386-408 
    ISSN: 0375-9474
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Nuclear Physics, Section A 278 (1977), S. 297-318 
    ISSN: 0375-9474
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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