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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common form of human myelopathy caused by a compression of the spinal cord by ectopic ossification of spinal ligaments. To elucidate the genetic basis for OPLL, we have been studying the ttw (tiptoe walking; previously ...
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 272 (1978), S. 606-608 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Fig. 1 Izu-Bonin deep seismic zone contoured in 100 km depth, the epicentres of the related earthquakes in the Ryukyu Islands and the seismic stations ( A ) used in the analysis. a, 26 October 1972 ; b, 17 March 1974; c, 7 January 1976. Inset: schematic ray diagrams explaining the mechanism of the ...
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract OPLL (ossification of the posterior longitudinal ligament of the spine) is a common form of human myelopathy with a prevalence of as much as 4% in a variety of ethnic groups. To clarify the genetic factors that predispose to OPLL, we have studied ttw (tiptoe walking), a mouse model that presents ectopic ossification of the spinal ligaments similar to OPLL and have found that the ttw phenotype is caused by the nonsense mutation of the gene encoding nucleotide pyrophosphatase (NPPS), a membrane-bound glycoprotein thought to produce inorganic pyrophosphate, a major inhibitor of calcification and mineralization. To investigate a possible role of NPPS in the etiology of OPLL, we have examined its genetic variations in OPLL patients. A total of 323 OPLL patients was screened by means of polymerase chain reaction/single-strand conformation polymorphism analysis covering all the exons and their surrounding introns, plus about 1.5-kb of the promoter region. We identified ten nucleotide variations in the NPPS gene; five of the alterations caused amino-acid substitutions, and two of them were found specifically in OPLL patients. Subsequently, we performed an association study using these variations and found a significant association of an allele, viz., a deletion of T at a position 11 nucleotides upstream from the splice acceptor site of intron 20 (IVS20–11delT), with OPLL; the proportion of the individuals having this deletion was significantly higher (P = 0.0029) in OPLL patients than in controls, indicating that those who have this variation may be more susceptible to the abnormal ossification of the spinal ligaments. Thus, our study suggests that NPPS plays an important role in the etiology of human OPLL.
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  • 4
    ISSN: 1438-8359
    Keywords: Anesthetics ; Halothane ; Atrioventricular conduction ; Verapamil ; Diltiazem ; Nifedipine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The effects of halothane on AV nodal function were evaluated in dogs with verapamil, diltiazem, or nifedipine during atrial pacing using the technique of Hisbundle electrocardiography. Fifty-one mongrel dogs were divided into six groups. Anesthesia was induced with ketamine 100 mg im. and thiamylal 25 mg/kg iv. The animals were intubated and mechanically ventilated at normocapneic levels. Anesthesia was maintained with 50% nitrous-oxide in oxygen with pancuronium 2 mg im. Dogs in groups I, III, and V were anesthetized with 0.8% halothane and 50% nitrous-oxide in oxygen. We observed interactions between halothane and intravenous administration of either verapamil 0.1 mg/kg, diltiazem 0.15 mg/kg, or nifedipine 0.01 mg/kg respectively. Dogs in groups II, IV, and VI were administered either verapamil, diltiazem, or nifedipine iv without halothane. There were prolongations of sinus cycle length (SCL) (414 ± 10 to 542 ± 19 msec.), atrium-His (AH) interval (73 ± 3 to 97 ± 5 msec.), and functional refractory period (FRP) of the AV-node (227 ± 5 to 260 ± 5 msec.) in halothane anesthesia in groups I, III, and V. There were more prolongations of these variables after iv administration of verapamil (SCL; 617 ± 35, AH; 118 ± 7, FRP of the AV node; 311 ± 4) and diltiazem (SCL; 554 ± 19, AH; 118 ± 12, FRP of the AV node; 283 ± 12) but no prolongations after nifedipine (SCL; 533 ± 19, AH; 99 ± 8, FRP of the AV node; 272 ± 9). Comparing effects of calcium entry blockers with and without halothane in groups I and II, III and IV, or V and VI, there were additive depressing effects of halothane with either verapamil or diltiazem on AV nodal function. And there is a difference between the effects of nifedipine on SCL with and without halothane. (Yokota S, Harada K, Takigawa C et al.: Effects of halothane and calcium entry blockers on atrioventricular conduction; A comparative study of verapamil, diltiazem, and nifedipine. J Anesth 2: 219–226, 1998)
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  • 5
    ISSN: 1435-232X
    Keywords: Key words Genomic organization ; CILP ; porcine NTPPHase ; Polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The CILP gene encodes a proform of two polypeptides. One of them, cartilage intermediate layer protein (CILP), is a non-collagenous protein recently isolated from human articular cartilage. The other is homologous to a porcine nucleotide pyrophosphohydrolase (NTPPHase) whose enzymatic activity is highest in articular tissue. The investigation reported here revealed that the CILP gene consists of nine exons spanning approximately 15 kb of genomic DNA on chromosome 15q22. We also report six single nucleotide variations in this gene; five of them cause amino acid changes and the most common of them substitutes isoleucine for threonine at codon 395.
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  • 6
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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