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  • 1
    Electronic Resource
    Electronic Resource
    Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms (1992)
    Springer
    Diabetologia 35 (1992), S. 261-266 
    Details
    ISSN: 1432-0428
    Keywords: Hyperinsulinaemia ; tyrosine kinase activity ; Type 2 (non-insulin-dependent) diabetes mellitus ; obesity ; screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We analyzed single-stranded conformational poly morphisms to screen for mutations and polymorphisms in the insulin receptor gene in subjects with or without insulin resistance. Using this new technique, we demonstrated the existence of mutations in the insulin receptor gene which we had identified previously. In addition, a new mutation was found in exon 20 of the insulin receptor gene in a patient with moderate insulin resistance associated with morbid obesity, acanthosis nigricans, and polycystic ovary syndrome. The patient was heterozygous for a mutation substituting Leu (CTG) for Pro (CCG) at codon 1178. Pro1178 is a part of a characteristic sequence motif (D1150 F1151 G1152-A1177 P1178 E1179) common to many protein kinases. Analysis of single-stranded conformational polymorphisms was also used to estimate the frequency of a polymorphism at codon 1058. The two codons CAC (1058 His) and CAT (1058 His) both had a prevalence of 50% in 30 Japanese subjects. These data demonstrate that analysis of single-stranded conformational polymorphisms is a simple and sensitive screening method for mutations and polymorphisms in the insulin receptor gene in subjects with or without insulin resistance. Identification of a mutation in the insulin receptor gene in a patient with a moderate degree of insulin resistance associated with morbid obesity suggests that insulin receptor mutations may exist in patients with Type 2 (non-insulin-dependent) diabetes mellitus associated with a moderate degree of insulin resistance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400927
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Unusual Forms of Insulin Resistance (1991)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Medicine 42 (1991), S. 373-379 
    Details
    ISSN: 0066-4219
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.me.42.020191.002105
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Receptors for Peptide Hormones: Alterations in Diseases of Humans (1982)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Physiology 44 (1982), S. 639-651 
    Details
    ISSN: 0066-4278
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine , Biology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.ph.44.030182.003231
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Tyrosine kinase activity of insulin receptors from an insulin-resistant patient with leprechaunism (1987)
    Springer
    Diabetologia 30 (1987), S. 631-637 
    Details
    ISSN: 1432-0428
    Keywords: Insulin receptor ; tyrosine kinase ; insulin resistance ; anti-receptor antibodies ; leprechaunism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Defects in insulin receptor function can impair the response of target cells to insulin. Previously we have described an insulin resistant patient (leprechaun/Ark−1) with qualitative abnormalities in insulin binding suggestive of a structural defect in her insulin receptors. In the present work, we have studied the tyrosine kinase activity associated with insulin receptors from cultured Epstein-Barr virus-transformed lymphocytes. In studies of insulin receptors from leprechaun/Ark−1, we observed that both the magnitude and the dose-dependency of insulin's effect to stimulate the tyrosine kinase activity were normal. This suggests that the defect causing this patient's insulin resistance is independent of the receptor-associated tyrosine kinase. In the course of these studies, we noted that an anti-receptor antiserum (B−d) had a markedly decreased ability to immunoprecipitate insulin receptors from leprechaun/Ark−1. This observation further supports our previous conclusion that the insulin receptor from leprechaun/Ark−1 is abnormal in structure. Moreover, it emphasizes the importance of choosing anti-receptor antisera which are equally effective at immunoprecipitating receptors from both patients and normal subjects when the anti-receptor antisera are employed as reagents in investigations of receptors from insulin-resistant patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00277320
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Analysis of insulin receptors on human lymphoblastoid cell lines by flow cytometry (1984)
    Springer
    Diabetologia 27 (1984), S. 118-120 
    Details
    ISSN: 1432-0428
    Keywords: Insulin receptor ; flow cytometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Antibodies to the insulin receptor have provided important experimental probes of receptor structure and function. In the present study, we have characterized the insulin receptor on human lymphoblastoid cell lines using polyclonal and monoclonal anti-receptor antibodies and fluorescence flow cytometry. The cell lines were derived by Epstein-Barr virus transformation of peripheral mononuclear leucocytes from normal subjects or patients with disorders that affect the insulin receptor. Fluorescence analysis revealed a high level of specific fluorescence on lymphoid cell lines from normal individuals (mean peak fluorescence 30–50 units above the control) and was similar to the labelling of the spontaneously transformed lymphoblastoid cell line IM-9. Transformed cells from patients with syndromes of insulin resistance, such as the Rabson Mendenhall syndrome, leprechaunism and the type A syndrome of insulin resistance and acanthosis nigricans, exhibited little or no specific fluorescence. In all cases, there was a unimodal distribution of receptors on cells. In addition, there was a good correlation between specific binding of 125I-insulin and percentage peak fluorescence. The data indicate that fluorescence flow cytometry can be used to study the distribution of insulin receptor on different cell lines and to study cells derived from patients with disease states.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00275665
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    Paper (German National Licenses)
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