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Summary In this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Çullar, Nevehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have generally been carried out in the field. The consideration, facioscapulohumeral muscular dystrophy of Landouzy-Déjérine, has been found to have affected at least 53 individuals, 9 of whom are deceased. Both sexes in six generations are involved as would be expected from a dominant mendelian gene freshly mutated at least 100 years ago. Additionally, some 19 individuals have been described as having the disease or some of its stigmata, but have not been examined by us. Initial signs and symptoms seem to appear early in infancy, though variable, and because of complete dominance, some 75 individuals are at risk. The disease progresses slowly without interfering significantly with survival and reproduction. For prevention the so-called Çullar example measures have been taken to improve the area culturally and socioeconomically. 相似文献
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Emre Cevik Mustafa Buyukharman Huseyin Bekir Yildiz 《Biotechnology and bioengineering》2019,116(4):757-768
In this study, gold electrodes (GE) were coated with conducting polymers to obtain a high photocurrent using cyanobacteria from a novel bioelectrochemical fuel cell. For this purpose, 4-(4H-ditiheno[3,2-b:2',3'-d]pyrol-4-yl) aniline and 5-(4H-dithieno[3,2-b:2',3'-d]pyrol-4-yl) napthtalane-1-amine monomers were coated on GE by performing an electropolymerization process. After that, gold nanoparticles (AuNP) were specifically modified by 2-mercaptoethane sulfonic acid and p-aminothiophenol to attach to the electrode surface. The conducting polymers GE coat was modified with functionalized AuNP using a cross-linker. The resulting electrode structures were characterized by cyclic voltammetry and chronoamperometry under on-off illumination using a fiber optic light source. Cyanobacteria Leptolyngbia sp. was added to the GE/conducting polymer/AuNP electrode surface and stabilized by using a cellulose membrane. During the illumination, water was oxidized by the photosynthesis, and oxygen was released. The released oxygen was electrocatalytically reduced at the cathode surface and a 25 nA/cm 2 photocurrent was observed in GE/ Leptolyngbia sp. After the electrode modifications, a significant improvement in the photocurrent up to 630 nA/cm 2 was achieved. 相似文献
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Mutations in the Adenomatous Polyposis Coli (APC) gene are responsible for familial colon cancer and also occur in the early stages of sporadic colon cancer. APC functions in the Wnt signalling pathway to regulate the degradation of beta-catenin (reviewed in refs 1-3). APC also binds to and stabilizes microtubules in vivo and in vitro, localizes to clusters at the ends of microtubules near the plasma membrane of interphase cells, and is an important regulator of cytoskeletal function. Here we show that cells carrying a truncated APC gene (Min) are defective in chromosome segregation. Moreover, during mitosis, APC localizes to the ends of microtubules embedded in kinetochores and forms a complex with the checkpoint proteins Bub1 and Bub3. In vitro, APC is a high-affinity substrate for Bub kinases. Our data are consistent with a role for APC in kinetochore-microtubule attachment and suggest that truncations in APC that eliminate microtubule binding may contribute to chromosomal instability in cancer cells. 相似文献
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Transgenic Research - 相似文献
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Fulya Tekşen Bekir Sitki Şayli Ahmet Aydin Ahmet Sayal Aşkin Işimer 《Biological trace element research》1998,63(2):123-127
Down syndrome is the most common cause of mental retardation, affecting 1 in 700–800 liveborn infants. Although numerous biochemical
abnormalities accompanying the syndrome have not yet been completely clarified, the antioxidant defense system enzymes have
shown to be altered due to increased gene dosage on chromosome 21 and overproduction of superoxide dismutase (SOD-1 or Cu/Zn
SOD). The purpose of this study was to investigate the activities of SOD-1 and glutathione peroxidase (GSH-Px) enzymes and
the levels of their cofactors zinc (Zn), copper (Cu) and selenium (Se) in plasma of 20 Down syndrome patients.
In comparison with age and sex-matched controls (n=15), plasma GSH-Px, SOD, and Cu levels were significantly decreased in the patient group, but Zn and Se concentrations remained
unchanged.
This study was presented as a poster in 29th Annual Meeting of European Society of Human Genetics held in Genoa in May, 1997. 相似文献
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In vitro antimicrobial activity of propolis samples from different geographical origins against certain oral pathogens 总被引:3,自引:0,他引:3
Koru O Toksoy F Acikel CH Tunca YM Baysallar M Uskudar Guclu A Akca E Ozkok Tuylu A Sorkun K Tanyuksel M Salih B 《Anaerobe》2007,13(3-4):140-145
Propolis is an agent having antimicrobial properties, however, its composition can vary depending on the area where it is collected. In the present study, the antimicrobial activity of five propolis samples, collected from four different regions in Turkey and from Brazil, against nine anaerobic strains was evaluated. Ethanol extracts of propolis (EEP) were prepared from propolis samples and we determined minimum inhibitory concentrations (MIC) and minimum bactericidal concentrations (MBC) of EEP on the growth of test microorganisms by using agar dilution method. All strains were susceptible and MIC values ranged from 4 to 512 microg/ml for propolis activity. Propolis from Kazan-Ankara showed most effective MIC values to the studied microorganisms. MBC values of Kazan-Ankara EEP samples were ranged from 8 to 512 microg/ml. Death was observed within 4 h of incubation for Peptostreptococcus anaerobius and micros and Lactobacillus acidophilus and Actinomyces naeslundii, while 8 h for Prevotella oralis and Prevotella melaninogenica and Porphyromonas gingivalis, 12 h for Fusobacterium nucleatum, 16 h for Veillonella parvula. It was shown that propolis samples were more effective against Gram positive anaerobic bacteria than Gram negative ones. The organic chemical compositions of EEPs were determined by high-resolution gas chromatography coupled to mass spectrometry (GC-MS). The main compounds of EEPs were flavonoids such as pinobanksin, quercetin, naringenin, galangine, chrysin and aromatic acids such as cafeic acid. Because of increased antimicrobial resistance, propolis may be kept in mind in the treatment of oral cavity diseases. 相似文献