báo cáo khoa học: " Copy number variation in Parkinson’s disease" docx

... Pathogenic copy number variation in autosomal dominant Parkinson’s disease A seminal discovery in the study of PD was the report of missense mutations in the SNCA gene, encoding the α- synuclein protein, ... role of copy number variants and the mechanistic insights they have provided on the pathogenesis of Parkinson’s disease. © 2010 BioMed Central Ltd Copy number...

Ngày tải lên: 11/08/2014, 12:20

... resulting in a low binding affinity. NMTIQ is therefore unlikely to compete with tyrosine in vivo, which may explain why NMTIQ does not have an inhibitory effect on TH. However, molecular docking in ... is the rate- limiting step in synthesis of the catecholamines DA, norepinephrine and epinephrine. TH consists of four identical subunits that contain a C-terminal catalytic domain (resi...

Ngày tải lên: 07/03/2014, 05:20

... of sap, Springer-Verlag, Berlin, New York, 1983, 143 p. Stomatal control of embolism in Fagus 27 D. Lemoine et al.Stomatal control of embolism in Fagus Original article Within crown variation in hydraulic ... (petioles) and maintains xylem integrity in the shoots. In beech, we showed large differences in water stress responses with different embolism development depend- ing on t...

Ngày tải lên: 08/08/2014, 14:20

... reduce the number of regions of uncertain clinical significance. Genome-wide CNV screening in single cells is of special importance for a variety of applications in basic research and clinical diagnostics. ... CNV. Manolis Dermitzakis (Wellcome Trust Sanger Institute, Hinxton, UK) has worked for several years on defining the impact of nucleotide and copy number variation on gene-...

Ngày tải lên: 14/08/2014, 21:20

... mutation in the BTK PH domain; arginine 28 is in dark blue, encircled in red. Bottom left: SH2 domain. Right: kinase domain. The mutated residues are indicated in yellow, a-helices are in cyan, ... signaling proteins carrying domains also found in BTK. In 2009, an inactivating mutation in the ITK gene was shown to cause susceptibility to lethal Epstein–Barr virus infec- tion....

Ngày tải lên: 14/02/2014, 18:20

... in control explicitly indicating that he had nothing more to say. (In the following examples a line indicates a control shift) Example 1 - Prompt Dialogue C - 1. E: "And they are, in ... cues? In summarising, the speaker is indicating a nat- ural breakpoint in the dialogue and they also indicate that they have nothing more to add at that stage. Repetitions seem to work...

Ngày tải lên: 21/02/2014, 20:20

... to binding, as apparent in binding constants and/or the functional readout of the interaction. In addition, fuzziness may also under- line the observed sequence-independence of binding, when inter- action ... the role of TOR signaling in coordinating and integrating overall body growth and metabolism in multicellular organisms. This will require elucidating the role of TOR signaling...

Ngày tải lên: 22/03/2014, 16:20

... value according to the guidelines in Table 1. 4 Automatic extraction of TFA In this section we consider the automatic identifi- cation of t and f using machine learning techniques trained on the ... built models using decision trees (C4.5), bagging and rule-induction (Ripper) machine learn- ing techniques to predict the Information Structure. We have also implemented a deterministic, rule-...

Ngày tải lên: 23/03/2014, 19:20

... appears to he describing two windows, because there is no device indicating that the window of the second sentence is the same as the window of tile first sentence. If in tact the speaker me:mr ... goal is to dislinguL",h new information from old. ,so that the listener can tully undemtand what fs being said. [1} The room has a large window, The room has a window facing east. {1...

Ngày tải lên: 24/03/2014, 01:21

... 2008) and extracting simple binary relations between enti- ties. Recently, an increasing number of resources that facilitate the training of systems to extract more detailed information have ... subdomains. Understanding these linguistic variations is essential to the process of adaptat- ing natural language processing tools to new do- mains. In this paper, we highlight the variations be-...

Ngày tải lên: 24/03/2014, 03:20