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A mutation (Trp1193→Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance (1993)

Iwanishi, M. ; Haruta, T. ; Takata, Y. ; [et al.]

Springer

Diabetologia 36 (1993), S. 414-422

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ISSN: 1432-0428

Keywords: Insulin receptor ; mutation ; tyrosine kinase activity

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary We evaluated a 35-year-old diabetic male patient with type A insulin resistance, showing acanthosis nigricans. Insulin binding to the patient's Epstein-Barr-virus transformed lymphocytes was mildly reduced. The maximal insulin-stimulated autophosphorylation of the insulin receptor from the patient's transformed lymphocytes was decreased to 45% of that from the control subjects. On examination, the biological activities of insulin and insulin-like growth factor I in the patient's cultured fibroblasts, insulin sensitivity of amino isobutyric acid uptake and thymidine incorporation was decreased, but insulin-like growth factor I action was normal. The sequence analysis of amplified genomic DNA revealed that the patient was heterozygous for a mutation substituting Leu for Trp at codon 1193 in exon 20 of the insulin receptor gene. The patient's mother and sister were also heterozygous for a mutation in the insulin receptor gene that substituted Leu for Trp1193 in the Β subunit of the receptor. Therefore, the mutation causes insulin resistance in a dominant fashion. They were less hyperglycaemic and more hyperinsulinaemic than the proband after glucose loading. The mother had diabetes mellitus but did not show acanthosis nigricans, while the sister did not have diabetes and showed acanthosis nigricans. These results suggest that this mutation causes defective tyrosine kinase activity of the insulin receptor, which results in insulin resistance. Insulin action and phenotypic appearance may be mediated by different factors.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00402277

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Comparison of several open boundary numerical treatments for laminar recirculating flows (1993)

Kobayashi, M. H. ; Pereira, J. C. F. ; Sousa, J. M. M.

Chichester : Wiley-Blackwell

International Journal for Numerical Methods in Fluids 16 (1993), S. 403-419

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ISSN: 0271-2091

Keywords: Outflow boundary conditions ; Laminar recirculating flows ; Non-staggered grid systems ; Engineering ; Engineering General

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics

Notes: Several open boundary conditions (OBCs) are compared and evaluated in the framework of the SIMPLE algorithm using staggered and non-staggered grid systems. The benchmark laminar flow test cases used for the OBC evaluation are Poiseuille-Benard flow in a channel and stratified backward-facing step flow. The investigated OBCs are linear explicit step space extrapolation, Orlanski's monochromatic wave, and pressure extrapolation. Orlanski's and pressure extrapolation open boundary treatment for unsteady and steady flows, respectively, yield little reflection and has proved to be adequate for engineering calculations.

Additional Material: 9 Ill.