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  • 2005-2009  (2)
  • 1970-1974  (4)
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  • 1
    Electronic Resource
    Electronic Resource
    Detection of 1733insC mutations in an Asian family with Birt–Hogg–Dubé syndrome (2005)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 152 (2005), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Birt–Hogg–Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis characterized by skin tumours, including multiple fibrofolliculomas, trichodiscomas and acrochordons. BHD patients also may suffer from associated renal and colonic carcinomas. The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients.Objectives  This study reports the first Asian family that has been demonstrated to carry a BHD mutation.Patients/methods  The proband was a 26-year-old Japanese man with multiple asymptomatic, soft skin-coloured papules on his face, neck and trunk, which were clinically thought to be acrochordon. His father was also affected. Histopathologically, the papules revealed a fibrofolliculoma that had a circumscribed proliferation of fibroblasts and collagen fibres surrounding an abnormal hair follicle.Results  Mutational analysis of the BHD gene of the proband and the father detected 1733insC, a cytosine insertion mutation in an eight-cytosine tract (nucleotides 1733–1740) in exon 11. Analysis of fibrofolliculoma in the proband showed heterozygous 1733insC mutation, suggesting the absence of loss of heterozygosity. Interestingly, previous mutational analysis in Caucasian patients revealed that both1733insC and 1733delC mutations were hot spots.Conclusions  This study is the first to find the same hot-spot 1733insC mutation in Asian kindred. The mutations in this polycytosine tract may have a wide, global distribution despite their arising from a different ethnic background.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2004.06283.x
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  • 2
    Electronic Resource
    Electronic Resource
    High-resolution microscopy of nonstoichiometric Nb22O54 crystals: point defects and structural defects (1974)
    [S.l.] : International Union of Crystallography (IUCr)
    Acta crystallographica 30 (1974), S. 251-257 
    Details
    ISSN: 1600-5724
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Notes: With the use of high-resolution electron microscopy, defects have been observed in crystals of Nb22O54: two types of point defects and extended Wadsley-type defects having a structure corresponding to Nb12O29. For one type of point defect a model is proposed which contains two displaced metal atoms and two interstitial oxygen atoms within a 'block'. For the other, one metal atom and three oxygen atoms are considered to be missing from a tetrahedral site. Contributions made by the three types of defects to the non-stoichiometry of the crystals are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0567739474000519
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  • 3
    Electronic Resource
    Electronic Resource
    Direct observation of point defects in Nb12O29 by high-resolution electron microscopy (1973)
    [S.l.] : International Union of Crystallography (IUCr)
    Acta crystallographica 29 (1973), S. 632-636 
    Details
    ISSN: 1600-5724
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Notes: Point defects have been observed directly in non-stoichiometric niobium oxides, Nb12O29, by high- resolution electron microscopy at a resolution of 3-4 Å. A proposed model for the point defect is a complex composed of two interstitial metal atoms and two interstitial oxygen atoms. Observations have been made on the annealing out of these defects under electron irradiation. Evidence on the density of these defects offers a semi-quantitative explanation of how the non-stoichiometric oxygen excess in these oxides is accommodated in the matrix structure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0567739473001610
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  • 4
    Electronic Resource
    Electronic Resource
    Zur Biosynthese von Biopterin in Säugetieren (1973)
    Springer
    Cellular and molecular life sciences 29 (1973), S. 1481-1482 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Biosynthesis of biopterin in mice and rats was studied. After vascular injection of14C-GTP (U) in mice and rats, radioactive biopterin was isolated from the urine. The specific radioactivity of 6-carboxypterin obtained by oxidation of biopterin was proved to be 7/9 that of biopterin. The result definitely shows that biopterin is biosynthesized from GTP in mice and rats, and the sidechain of biopterin is derived directly from the ribose moiety of GTP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01943868
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  • 5
    Electronic Resource
    Electronic Resource
    Direct Measurement of NO in Biological Samples (2008)
    s.l. ; Stafa-Zurich, Switzerland
    Key engineering materials Vol. 381-382 (June 2008), p. 343-344 
    Details
    ISSN: 1013-9826
    Source: Scientific.Net: Materials Science & Technology / Trans Tech Publications Archiv 1984-2008
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: Nitric oxide (NO) produced in the endothelial cells and other tissues has been known toplay a range of physiological roles including vasodilation. Thus, direct in vivo measurement of NO isof great importance for clarification of physiological roles of NO and development of therapeuticsusing NO. It has long been assumed that NO is readily oxidized in blood and cannot be detected;however, some recent reports demonstrated much longer half-life of NO in the blood stream in vivo.Recently, we reported the basic performance of an NO sensor which is applicable to in vivomeasurement. This sensor can detect NO in the blood stream in an anesthetized rat and somebiological samples including a dialysis solution. In these studies we found that NO itself showeddynamic changes different from these of oxidative products of NO (nitrite and nitrate) that areconventionally used as indices of NO level. We have also developed a catheter-type NO sensor anddemonstrated validity of the sensor for in vivo measurement of NO in the aorta and coronary sinus ofanesthetized dogs and rabbits. Both endothelium-dependent and -independent NO productions couldbe detected. In conclusion, the NO sensor and the catheter-type NO sensor are applicable to directmeasurement of NO in biological samples even in vivo and will contribute to clarification ofphysiological roles of NO
    Type of Medium: Electronic Resource
    URL: http://www.tib-hannover.de/fulltexts/2011/0528/01/57/transtech_doi~10.4028%252Fwww.scientific.net%252FKEM.381-382.343.pdf
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  • 6
    Electronic Resource
    Electronic Resource
    Single crystals of T-Nb2O5 obtained by slow cooling method under high pressures (1974)
    Weinheim : Wiley-Blackwell
    Zeitschrift für anorganische Chemie 410 (1974), S. 313-315 
    Details
    ISSN: 0044-2313
    Keywords: Chemistry ; Inorganic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Description / Table of Contents: Darstellung von T—Nb2O5-Einkristallen durch langsames Abkühlen unter hohem DruckNiob(V)-oxid in der T-Modifikation wurde bei 1800 K und 20 kbar in Gegenwart von H2O als Mineralisator in klaren Kristallen gewonnen. Das Präparat war frei von F, Cl und OH. Gitterkonstanten und d-Werte vgl. Tab. 1 und 2.
    Notes: The T form of niobium(V) oxide was prepared in clear crystals at 1800 K and 20 kbar in the presence of water as mineralizer. The sample was free of F, Cl, and OH. Lattice constants and X-ray data see table 1 and 2.
    Additional Material: 2 Tab.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/zaac.19744100311
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