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11.
Molecular pathology and pathobiology of osteoarthritic cartilage 总被引:14,自引:0,他引:14
The biochemical properties of articular cartilage rely on the biochemical composition and integrity of its extracellular
matrix. This matrix consists mainly of a collagen network and the proteoglycan-rich ground substance. In osteoarthritis, ongoing
cartilage matrix destruction takes place, leading to a progressive loss in joint function. Beside the degradation of molecular
matrix components, destabilization of supramolecular structures such as the collagen network and changes in the expression
profile of matrix molecules also take place. These processes, as well as the pattern of cellular reaction, explain the pathology
of osteoarthritic cartilage degeneration. The loss of histochemical proteoglycan staining reflects the damage at the molecular
level, whereas the supramolecular matrix destruction leads to fissuring and finally to the loss of the cartilage. Chondrocytes
react by increasing matrix synthesis, proliferating, and changing their cellular phenotype. Gene expression mapping in situ
and gene expression profiling allows characterization of the osteoarthritic cellular phenotype, a key determinant for understanding
and manipulating the osteoarthritic disease process. 相似文献
12.
A framework for variation discovery and genotyping using next-generation DNA sequencing data 总被引:7,自引:0,他引:7
DePristo MA Banks E Poplin R Garimella KV Maguire JR Hartl C Philippakis AA del Angel G Rivas MA Hanna M McKenna A Fennell TJ Kernytsky AM Sivachenko AY Cibulskis K Gabriel SB Altshuler D Daly MJ 《Nature genetics》2011,43(5):491-498
Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution. The amounts of raw data produced are prodigious, and many computational steps are required to translate this output into high-quality variant calls. We present a unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and specific results across five sequencing technologies and three distinct, canonical experimental designs. Our process includes (i) initial read mapping; (ii) local realignment around indels; (iii) base quality score recalibration; (iv) SNP discovery and genotyping to find all potential variants; and (v) machine learning to separate true segregating variation from machine artifacts common to next-generation sequencing technologies. We here discuss the application of these tools, instantiated in the Genome Analysis Toolkit, to deep whole-genome, whole-exome capture and multi-sample low-pass (~4×) 1000 Genomes Project datasets. 相似文献
13.
R McKenna D Xia P Willingmann L L Ilag S Krishnaswamy M G Rossmann N H Olson T S Baker N L Incardona 《Nature》1992,355(6356):137-143
The mechanism of DNA ejection, viral assembly and evolution are related to the structure of bacteriophage phi X174. The F protein forms a T = 1 capsid whose major folding motif is the eight-stranded antiparallel beta barrel found in many other icosahedral viruses. Groups of 5 G proteins form 12 dominating spikes that enclose a hydrophilic channel containing some diffuse electron density. Each G protein is a tight beta barrel with its strands running radially outwards and with a topology similar to that of the F protein. The 12 'pilot' H proteins per virion may be partially located in the putative ion channel. The small, basic J protein is associated with the DNA and is situated in an interior cleft of the F protein. Tentatively, there are three regions of partially ordered DNA structure, 相似文献