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  • 1
    Electronic Resource
    Electronic Resource
    A mutation (Trp1193→Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance (1993)
    Springer
    Diabetologia 36 (1993), S. 414-422 
    Details
    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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  • 2
    Electronic Resource
    Electronic Resource
    Evolutionary Motif and Its Biological and Structural Significance (1997)
    Springer
    Journal of molecular evolution 44 (1997), S. S038 
    Details
    ISSN: 1432-1432
    Keywords: Key words: Evolutionary motif — Motif length — Multiple alignment — Window analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract. We developed a method for multiple alignment of protein sequences. The main feature of this method is that it takes the evolutionary relationships of the proteins in question into account repeatedly for execution, until the relationships and alignment results are in agreement. We then applied this method to the data of the international DNA sequence databases, which are the most comprehensive and updated DNA databases in the world, in order to estimate the ``evolutionary motif'' by extensive use of a supercomputer. Though a few problems needed to be solved, we could estimate the length of the motifs in the range of 20 to 200 amino acids, with about 60 the most frequent length. We then discussed their biological and structural significance. We believe that we are now in a position to analyze DNA and protein not only in vivo and in vitro but also in silico.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00000056
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Elevated plasma bile acids in hypergalactosaemic neonates: a diagnostic clue to portosystemic shunts (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 716-718 
    Details
    ISSN: 1432-1076
    Keywords: Key words Galactoasemia ; Portosystemic shunt ; Total bile acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To determine whether plasma levels of total bile acids may provide a useful index for hypergalactosaemia due to porto-systemic shunts, these levels were determined in hypergalactosaemic neonates. Increased levels were found in all cases with portohepatic venous or portocaval shunts. The levels of both total bile acids and galactose were normalized when the shunts disappeared on the echograms. Both bile acids and galactose are almost completely absorbed by the liver via the first portal blood passage. Portosystemic shunts contribute to elevated levels of bile acids and galactose. Conclusion Increased plasma levels of total bile acids serve as a diagnostic clue to the presence of porto systemic shunts in neonates with hypergalactosaemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050697
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    CRYST – a system to display 3D images of crystal structure, symmetry operations and crystal forms (1989)
    Copenhagen : International Union of Crystallography (IUCr)
    Applied crystallography online 22 (1989), S. 633-639 
    Details
    ISSN: 1600-5767
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Geosciences , Physics
    Notes: CRYST is a three-dimensional computer graphics program to help the understanding of crystallographic procedures. The three-dimensional image of a crystal structure is displayed, together with the arrangement of the symmetry elements in the unit cell. The symmetry-related atoms can be generated successively on a graphics screen by designating symmetry elements with a pen and tablet. Changes in morphology of a growing crystal may also be drawn by computer. Several applications of the system are described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0021889889007168
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  • 5
    Electronic Resource
    Electronic Resource
    Bone Mineral Density and Bone Turnover in Patients with Knee Osteoarthritis Compared with Generalized Osteoarthritis (2000)
    Springer
    Calcified tissue international 66 (2000), S. 325-329 
    Details
    ISSN: 1432-0827
    Keywords: Key words: Pyridinoline — CTx — Osteocalcin — Radiographic grading.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract. The aim of this study was to investigate bone mineral density (BMD) and bone turnover in patients with primary knee osteoarthritis (KOA) and to compare them with generalized OA (GOA) and nonGOA patients. A total of 88 postmenopausal primary KOA patients were studied. OA was graded by using knee radiographs. BMD of the lumber spine, femur, and radius, and biochemical markers of bone turnover, pyridinoline (Pyr), deoxypyridinoline (Dpyr), CTx, and osteocalcin were compared among each grade. BMD was also compared with 88 normal controls who were age and weight-matched. In 88 KOA patients, 56 were divided into 28 GOA and 28 non-GOA groups by grading hand radiographs. BMD and biochemical markers were compared between GOA and non-GOA. KOA patients had higher BMD at several skeletal sites compared with age- and weight-matched normals. A significant difference of BMD between each grade was observed between grades 0–1 and 3 (0.774 ± 0.143 versus 0.940 ± 0.185 g/cm2, P 〈 0.001), grades 2 and 3 (0.781 ± 0.125 versus 0.940 ± 0.185 g/cm2, P 〈 0.01) in the spine, and between grades 0–1 and 3 (0.505 ± 0.100 versus 0.564 ± 0.127 g/cm2, P 〈 0.05) in the trochanter. A significant difference of biochemical bone markers was observed between grades 0–1 and 3 (P 〈 0.05) and between grades 2 and 3 (P 〈 0.05) in Pyr and grades 0–1 and 3 (P 〈 0.05) and between grades 1 and 4 (P 〈 0.05) in Dpyr, but not in osteocalcin and CTx. GOA patients had higher BMD of the spine (0.902 ± 0.175 versus 0.747 ± 0.138 g/cm2, P 〈 0.01), trochanter (0.535 ± 0.107 versus 0.480 ± 0.107 g/cm2, P 〈 0.05), and one-third of the radius (0.526 ± 0.068 versus 0.472 ± 0.089 g/cm2, P 〈 0.05) and had significantly higher biochemical markers in Pyr and Dpyr than non-GOA patients. It is concluded that KOA patients had higher BMD at several skeletal sites. Biochemical bone markers were influenced by some degree of cartilage damage in OA patients. This tendency was stronger in GOA patients than in non-GOA patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002230010068
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    Paper (German National Licenses)
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