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  • 1
    Electronic Resource
    Electronic Resource
    Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 155-163 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Twenty-eight unrelated persons heterozygous for familial hypercholesterolemia (FH) were screened to assess the frequency and nature of major structural rearrangements at the low-density lipoprotein (LDL) receptor gene in Korean FH patients. Genomic DNA was analyzed by Southern blot hybridization with probes encompassing exons 1–18 of the LDL receptor gene. Two different deletion mutations (FH29 and FH110) were detected in three FH patients (10.7%). Each of the mutations was characterized by the use of exon-specific probes and detailed restriction mapping mediated by long-PCR (polymerase chain reaction). Mutation FH29 was a 3.83-kb deletion extending from intron 6 to intron 8 and FH110 was a 5.71-kb deletion extending from intron 8 to intron 12. In FH29, the translational reading frame was preserved and the deducible result was a cysteine-rich A and B repeat truncated protein that might be unable to bind LDL but would continue to bind β-VLDL. FH110 is presumed to be a null allele, since the deletion shifts the reading frame and results in a truncated protein that terminates in exon 13. Sequence analysis revealed that both deletions have occurred between two Alu-repetitive sequences that are in the same orientation. This suggested that in these patients the deletions were caused by an unequal crossing over event following mispairing of two Alu sequences on different chromatids during meiosis. Moreover, in both deletions, the recombinations were related to an Alu sequence in intron 8 and the deletion breakpoints are found within a specific sequence, 27 bp in length. This supports the hypothesis that this region might have some intrinsic instability, and act as one of the important factors in large recombinational rearrangements.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050331
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  • 2
    Electronic Resource
    Electronic Resource
    Phenotypic Modulation of Smooth Muscle Cells during Progression of Human Atherosclerosis as Determined by Altered Expression of Myosin Heavy Chain Isoforms (1994)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 748 (1994), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1994.tb17365.x
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  • 3
    Electronic Resource
    Electronic Resource
    Vitamin C Prevents Radiation-Induced Endothelium-Dependent Vasomotor Dysfunction And De-Endothelialization By Inhibiting Oxidative Damage In The Rat (2001)
    Melbourne, Australia : Blackwell Science Pty
    Clinical and experimental pharmacology and physiology 28 (2001), S. 0 
    Details
    ISSN: 1440-1681
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: 1. The present study was undertaken to determine whether endothelial function or morphology was altered in aortic rings of rats after irradiation, to investigate the mechanism of radiation effects on the endothelium and to examine the effect of vitamin C treatment against radiation-induced damage of the endothelium.2. Female Sprague-Dawley rats were randomized into four groups (control, radiation, radiation + vitamin C, radiation + vitamin C + NG-nitro-L-arginine methyl ester (L-NAME); n = 10 for each group and n = 7 for the control group) and were irradiated with 10 Gy of 137Cs as a radiation source. Segments of the thoracic aorta were obtained and isometric tension, levels of 8-hydroxydeoxyguanosine (OH-dG) and immunohistochemical staining were measured.3. Irradiation significantly impaired the acetylcholine-induced vasodilation of aortic segments, an effect that could be prevented by pretreatment with vitamin C (500 mg/kg per day). This beneficial effect of vitamin C was abolished by the addition of L-NAME (100 μg/kg per day), an inhibitor of nitric oxide (NO) synthesis. Irradiation significantly increased the level of OH-dG in the aorta (1.02 ± 0.27 vs 2.61 ± 0.78 OH-dG/105 deoxyguanosine (dG) for control and irradiated tissues, respectively; P 〈 0.01), an increase that was prevented by vitamin C treatment (1.59 ± 0.23 OH-dG/105 dG; P 〈 0.01). Irradiation caused significant de-endothelialization (von Willebrand factor (vWF) staining was 93 ± 7 vs 100% in irradiated and control tissues, respectively; P 〈 0.05) and this was prevented by vitamin C treatment (vWF staining 98 ± 3%; P 〈 0.05).4. Radiation caused endothelial damage and impaired NO production through oxidative injury, resulting in a selective impairment of endothelial-dependent vasodilation that could be prevented by vitamin C, partly through anti-oxidant mechanisms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1440-1681.2001.03528.x
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  • 4
    Electronic Resource
    Electronic Resource
    Electrocardiographic Characteristics of Fasciculoventricular Pathways (2005)
    350 Main Street , Malden , MA 02148-5018 , USA and 9600 Garsington Road , Oxford OX4 2DQ , UK . : Blackwell Science Inc
    Pacing and clinical electrophysiology 28 (2005), S. 0 
    Details
    ISSN: 1540-8159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Introduction: Fasciculoventricular (FV) pathways are rare variants of preexcitation, and their ECGs may be misinterpreted as Wolff-Parkinson-White syndrome with anteroseptal accessory pathways (WPW-AS). We analyzed the electrocardiographic characteristics of the patients with FV pathways to find out the different findings from WPW-AS. Methods and Results: Five patients with FV pathways and four patients with WPW-AS who underwent electrophysiologic studies were evaluated. Intervals and amplitudes of each wave and QRS morphologies were analyzed in standard 12-lead ECGs of these patients by two independent cardiologists without the information of the electrophysiologic findings. PR intervals were longer in FV pathways (122 ± 11.0 vs 83 ± 21 ms, FV pathways vs WPW-AS, P = 0.017). In lead V1, narrower width of R waves (25 ± 6 vs 45 ± 13 ms, P = 0.037) and smaller amplitude of S waves (12.8 ± 8.3 vs 26.6 ± 7.4 mm, P = 0.037) were observed in FV pathways. The polarity of delta waves in V1 was flat or negative in contrast with the cases of WPW-AS in which the polarity was positive. Three of five patients had notching in the descending limb of S waves in V1, which was not observed in WPW-AS. Conclusion: FV pathways have different ECG characteristics from WPW-AS in PR interval and morphology of QRS complexes in lead V1 of the standard 12-lead ECG.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1540-8159.2005.09371.x
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  • 5
    Electronic Resource
    Electronic Resource
    Analysis of mitochondrial DNA deletions in four chambers of failing human heart: hemodynamic stress, age, and disease are important factors (2000)
    Springer
    Basic research in cardiology 95 (2000), S. 163-171 
    Details
    ISSN: 1435-1803
    Keywords: Key words Mitochondrial DNA – deletions – cardiomyopathy – aging – human
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Mitochondrial DNA (mtDNA) mutations are not only responsible for organ dysfunction due to inefficient energy production but also indicators of metabolic and functional stresses in the organ. To analyze the significance of deletion mutation in human myocardium, we screened the presence of two common deletions (7.4 kb from 8637–16084 nt, 5.0kb from 8470–13477 nt) in four chambers using long PCR, and using serial-dilution PCR, measured the amount of deleted mtDNA in normal heart (NL) of brain-dead victims of road accidents (n = 9, age = 10–59) and failing hearts (CHF) of patients who underwent heart transplantation (n = 24, age = 17–63). Frequency of both deletions was higher in ventricles (Vt) than in atria (At) (Vt: At = 25/33 : 12/33 for 7.4 kb, 19/33 : 6/33 for 5 kb) (p 〈 0.05), whereas it was the same in the right and left chambers. In ventricles, both deletions were more frequent among older persons (〉 35 yrs) than in younger persons /≤ 35 yrs) (older : younger = 16/20 : 9/13 for 7.4 kb, 15/20 : 4/13 for 5 kb) (p 〈 0.05). In ventricles of failing heart, the 5-kb deletion was more frequent than in those of normal heart (CHF : NL = 17/24 : 2/9) (p 〈 0.05), whereas the 7.4-kb deletion was frequent both in failing and normal hearts (CHF : NL = 19/24 : 6/9). The association of mutation with aging or disease process observed in ventricles was not found in the atria. Although the amount of mutant mtDNA in the left ventricle tended to increase according to a disease process, it was small, at most 1.56% or 0.012% of total mtDNA for a 7.4- or 5-kb deletion, respectively. No deletion was found, however, in lymphocytes from any patient who underwent transplantation. In conclusion, deletion mutation of mtDNA is frequently, but in a small amount, found in the ventricle of older failing heart than in the atrium of younger normal heart. This suggests that hemodynamic stress, age, and disease are factors to induce mtDNA mutation that represents the indicator of stresses on the heart and might turn into a contributor of progressive heart failure under extreme conditions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003950050178
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