排序方式: 共有53条查询结果,搜索用时 15 毫秒
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Mitsuhashi S Ohkuma A Talim B Karahashi M Koumura T Aoyama C Kurihara M Quinlivan R Sewry C Mitsuhashi H Goto K Koksal B Kale G Ikeda K Taguchi R Noguchi S Hayashi YK Nonaka I Sher RB Sugimoto H Nakagawa Y Cox GA Topaloglu H Nishino I 《American journal of human genetics》2011,(6):3841-851
Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB). This is the first enzymatic step in a biosynthetic pathway for phosphatidylcholine, the most abundant phospholipid in eukaryotes. In muscle of three affected individuals with nonsense mutations, choline kinase activities were undetectable, and phosphatidylcholine levels were decreased. We identified the human disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain. 相似文献
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Erdem SS Kurban S Altunhan H Annagür A Ors R Yerlikaya FH Gökçe R Mehmetoğlu I 《Cell biochemistry and function》2011,29(6):521-525
The aim of our study was to assess the effect of phototherapy (PT) on ischaemia‐modified albumin (IMA) and malondialdehyde (MDA) levels in hyperbilirubinemic full‐term newborns. The study was performed on 36 full‐term infants exposed to PT. The babies were aged 3 to 13 days. IMA and MDA levels of the babies were determined before and after PT, by a colorimetric assay. IMA levels before and after PT were found as 0.424 ± 0.290 and 0.531 ± 0.262 absorbance units, respectively. Although IMA levels after PT were slightly higher, the difference was not statistically significant (p > 0.131). MDA levels before and after PT were found as 8.4 ± 1.8 µmol/l and 9.4 ± 1.5 µmol/l, respectively. Serum MDA concentrations were significantly higher after PT than before PT (p < 0.000). In previous studies, conflicting findings have been reported about the effect of PT on oxidant and antioxidant systems. However, we have found no study investigating IMA levels in hyperbilirubinaemia in newborns before and after PT. Our results shows that PT does not affect IMA levels significantly. IMA increases as a result of oxidative stress. We believe that the lack of significant difference between our IMA levels before and after PT may resulted from hyperbilirubinaemia, which has antioxidant effect. Copyright © 2011 John Wiley & Sons, Ltd. 相似文献
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采用“面”上宏观调查与“点”上典型研究相结合, 集中对塔里木河下游阿拉干断面100 hm2的胡杨(Populus euphratica)林木分布与胸径结构进行了调查。结果发现, 在距河道0-20 m的范围内, 胸径为0-4 cm的幼龄胡杨占最多, 达到13.24%。以后随着离河道距离的增加, 幼龄胡杨所占比例逐渐减小。胸径分布范围简单, 胸径为16-36 cm的林木株数在胡杨林中所占的比例最多。另外, 随着离河道距离的增加, 胸径在48 cm以上的过熟林和衰老林的比例逐渐增多。距河道0-200 m的范围内, 胡杨分布占整个胡杨林的80%以上。其中以疏失度为0-50%的长势较好的胡杨为主。在200-400 m的范围内, 疏失度为50%-75%的长势较差的过熟林和衰老林的比例开始增多。距河道400 m以上, 胡杨密度开始急剧下降, 胡杨株数所占的比例几乎下降到5%以下。 相似文献
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Beril C. Tavsanli Kartik S. Pappu Sunil Q. Mehta Graeme Mardon 《Genesis (New York, N.Y. : 2000)》2001,31(3):130-136
Summary: Best macular dystrophy (BMD) is an autosomal dominant human disease characterized by macular degeneration with juvenile onset (OMIM 153700). The disease is most often associated with mutations in Bestrophin, which encodes a novel protein with four putative transmembrane domains. However, complete loss‐of‐function mutations in Bestrophin have not been reported in humans or mice. We have identified three homologs of human Bestrophin in the Drosophila genome (dbest1‐3). The protein products of these three genes share significant homology to a 364 amino acid N‐terminal domain of human Bestrophin. We used P‐element mutagenesis to delete dbest1, which encodes a protein with the highest amino acid similarity to Bestrophin. Three independent dbest1 mutants were recovered from the mutagenesis screen. Homozygous null mutations in dbest1 do not significantly alter the viability or fertility of mutant flies. Moreover, dbest1 mutants have normal photoreceptor morphology and function. genesis 31:130–136, 2001. © 2001 Wiley‐Liss, Inc. 相似文献
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Serdar MA Akin BS Razi C Akin O Tokgoz S Kenar L Aykut O 《Biological trace element research》2012,148(1):11-17
Hair analysis is a promising tool for routine clinical screening and diagnosis of heavy metal exposure and essential trace element status in the human body. Systemic intoxications have been identified by anomalously high values of toxins in hair samples. The aim of the present study is to evaluate the relationship between smoking habit of the family members and the levels of toxic and nontoxic trace elements in hair samples of children. The randomized cross-sectional controlled study comprised of 95 children (41 girls and 54 boys) between the ages of 1 and 6 years. After written informed consent was obtained, a face-to-face interview was conducted with the families about educational background, total income of the family, and smoking habits of family members. The mineral elements considered in this study were Zn, Se, B, V, Co, Mo, Mn, iron (Fe), Be, aluminum (Al), As, cadmium (Cd), lead (Pb), Hg, chromium (Cr), Ag, Be, nickel (Ni), copper (Cu), Sn, and antimony (Sb). Hair mineral contents were measured by inductively coupled plasma-mass spectrometry. The results showed that the levels of Cd, Pb, Cr, Sb, Fe, and Al in hair samples of children whose parents smoked were significantly higher than those whose parents were nonsmokers. The number of smokers and the frequency of smoking at home were positively correlated with Pb, Cd, Cu, Ni, and Sb levels found. At the same time, it was found that there was no correlation between toxic element concentrations and family income or educational background excluding the levels of Cd. A correlation was observed between the smoking status of family members and levels of toxic trace elements in hair where this correlation was more significant with the levels of Pb and Cd. High socioeconomic status and the level of education of family members did not have any effect on toxic trace levels in hair samples of children. 相似文献
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Kurban A Yoshida H Izumi Y Sonoda S Tsumuki H 《Bulletin of entomological research》2007,97(3):219-223
Helicoverpa armigera (Hübner) exhibits a facultative pupal diapause, which depends on temperature and photoperiod. Pupal diapause is induced at 20 degrees C by short photoperiods and inhibited by long photoperiods during the larval stage. However, in some pupae (35% of males and 57% of females) of a non-selected field population from Okayama Prefecture (34.6 degrees N), diapause is not induced by short photoperiods. In the present experiment, the importance of temperature for diapause induction was studied in the non-diapausing strain, which was selected from such individuals reared at 20 degrees C under a short photoperiod of 10L:14D. Furthermore, the sensitive stage for thermal determination of pupal diapause was determined by transferring larvae of various instars and pupae between 20 degrees C and 15 degrees C. Diapause was induced by 15 degrees C without respect to photoperiod. When larvae or pupae reared from eggs at 20 degrees C under a short or a long photoperiod were transferred to 15 degrees C in the periods of the middle fifth instar to the first three days after pupation, the diapause induction rate was significantly reduced in both males and females, especially in females. In contrast, when larvae or pupae reared at 15 degrees C were transferred to 20 degrees C in the same periods, diapause was induced in males, but not in females. However, the diapause induction rate of pupae transferred to 20 degrees C on the fourth day after pupation was significantly increased in females. The results show that temperature is the major diapause cue in the photoperiod-insensitive strain and the periods of middle fifth larval instar to early pupal stage are the thermal sensitive stages for pupal diapause induction with some different responses to temperatures between males and females in H. armigera. 相似文献
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