|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6显示文摘Background Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of neurodegenerative disorders. This study was to further assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and DRPLA (dentatorubro-pallidoluysian atrophy) in mainland Chinese, and to specifically characterize mainland Chinese patients with SCA6 in terms of clinical and molecular features.Methods Using a molecular approach, we investigated SCA in 120 mainland Chinese families with dominantly inherited ataxias and in 60 mainland Chinese patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 13 patients from 4 families. Results SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2[8(6.7%)], SCA1[7(5.8%)], SCA6[4(3.3%)], SCA7[1(0.8%)], SCA8(0%), SCA10(0%), SCA12(0%), SCA14(0%), SCA17(0%) and DRPLA(0%). The genes responsible for 41 (34.2%) of dominantly inherited SCA families remain to be determined. Among the 60 patients with sporadic ataxias in the present series, 3 (5.0%) was found to harbor SCA3 mutations while none was found to harbor SCA6 mutations. In the 4 families with SCA6, significant anticipation was found in the absence of genetic instability on transmission.Conclusion A geographic cluster of families with SCA6 subtype was initially identified in a mainland Chinese population. | JIANGHong TANGBei-sha XUBo ZHAOGuo-hua SHENLu TANGJian-guang LIQing-hua XIAKun | 2005 | Chinese Medical Journal2005，，10： | 12 |
| 2 | Temporal and Spatial Variability of Dissolved Organic Carbon Concentration in the Xijiang River, South China显示文摘A whole year analysis of riverine dissolved organic carbon (DOC) concentrations in the Xijiang River (XJR), South China, showed that the mean riverine DOC concentration (1.24 mg L-1) in the XJR was notably lower than the averaged value (5.75 mg L-1) of the global riverine DOC concentration in several major rivers. There is an inconspicuous monthly fluctuation of the DOC signal in the XJR, but on a semi-yearly time scale, however, the riverine DOC concentration had significant difference between hydrological seasons. The DOC level during the flood season (1.18 mg L-1) was less than that during the non-flood season (1.40 mg L-1). Owing to the concomitance of the flushing and dilution effects of the runoff during the high-water period, the variation of riverine DOC concentration with discharge in the XJR differed from that reported in many other major rivers. The DOC export flux above the city of Wuzhou was about 0.62× 106 g C km-2 yr-1. The DOC transported during the '056' Massive Flood period comprised 30.35% of the annual total, while the discharge accounted for 36.32% of the total annual flow. The characteristics in riverine DOC concentration in the XJR were attributed to the combined effect of the geomorphologic, monsoon climatic and hydrological processes as well as land-use within the drainage basin. | TAO Zhen GAO Quanzhou GUO Wenping WANG Zhengang ZHANG Yongling XIE Chenji HUANG Xiakun ZHONG Hongwei | 2011 | Journal of Mountain Science2011，8，5： | 3 |
| 3 | Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease显示文摘The form of Charcot-Marie-Tooth (CMT) neuropathy that maps to Xq13 is X-linked dominant, or X-linked intermediate. Heterozygous females are more mildly affected than hemizygous males. It has been known that this type of CMT is caused by mutations of connexin32 (Cx32) gene. A typical X-linked recessive Charcot-Marie-Tooth Chinese family was analyzed with single strand conformation polymorphism method. A Cx32 gene point mutation, Arg15Gln, in exon 2 was identified in all affected family members, suggesting that this mutation is responsible for the CMT incidence of this family. | TANGBeisha LUOWei ZHAOGuohua XIAOJianfeng LIQi MAYanlin XIAKun YANGQidong | 2003 | Progress in Natural Science:Materials International2003，13，6： | 2 |
| 4 | Dynamics of CO 2 partial pressure and CO 2 outgassing in the lower reaches of the Xijiang River, a subtropical monsoon river in China显示文摘 | Guanrong Yao Quanzhou Gao Zhengang Wang Xiakun Huang Tong He Yongling Zhang Shulin Jiao Jian Ding | 2007 | Science of the Total Environment2007，，1： | 1 |
| 5 | On-line detection ofeggshell crack based on acoustic resonance analysis显示文摘 | Sun Li Bi Xiakun Lin Hao | 2013 | Journal of Food Engineering2013，116，： | 1 |
| 6 | Large-scale data-driven and physics-based models offer insights into the relationships among the structures,dynamics,and functions of chromosomes显示文摘The organized three-dimensional chromosome architecture in the cell nucleus provides scaffolding for precise regulation of gene expression.When the cell changes its identity in the cell-fate decision-making process,extensive rearrangements of chromo-some structures occur accompanied by large-scale adaptations of gene expression,underscoring the importance of chromosome dynamics in shaping genome function.Over the last two decades,rapid development of experimental methods has provided unprecedented data to characterize the hierarchical structures and dynamic properties of chromosomes.In parallel,these enormous data offer valuable opportunities for developing quantitative computational models.Here,we review a variety of large-scale polymer models developed to investigate the structures and dynamics of chromosomes.Different from the underlying modeling strategies,these approaches can be classified into data-driven(‘top-down’)and physics-based(‘bottom-up’)categories.We discuss their contributions to offering valuable insights into the relationships among the structures,dynamics,and functions of chromosomes and propose the perspective of developing data integration approaches from different experimental technologies and multidisciplinary theoretical/simulation methods combined with different modeling strategies. | Cibo Feng Jin Wang Xiakun Chu | 2023 | Journal of Molecular Cell Biology2023，15，6： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员