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Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although several loci, including the pericentromeric region of chromosome 16, have been linked to paroxysmal kinesigenic dyskinesias, the causative gene has not yet been(More)
Proteome-scale protein interaction maps are available for many organisms, ranging from bacteria, yeast, worms and flies to humans. These maps provide substantial new insights into systems biology, disease research and drug discovery. However, only a small fraction of the total number of human protein-protein interactions has been identified. In this study,(More)
Combined hepatocellular carcinoma and cholangiocarcinoma (cHCC-CC) is an uncommon subtype of primary liver cancer that has rarely been reported in large-scale clinical studies. The aim of this study was to clarify the clinical features, treatment modalities, and prognosis of cHCC-CC. Included in this study were 113 patients who were histologically diagnosed(More)
Sorting nexin 27 (SNX27), a brain-enriched PDZ domain protein, regulates endocytic sorting and trafficking. Here we show that Snx27(-/-) mice have severe neuronal deficits in the hippocampus and cortex. Although Snx27(+/-) mice have grossly normal neuroanatomy, we found defects in synaptic function, learning and memory and a reduction in the amounts of(More)
The worldwide emergence of multidrug-resistant (MDR) and extensively drug-resistant (XDR) tuberculosis threatens to make this disease incurable. Drug resistance mechanisms are only partially understood, and whether the current understanding of the genetic basis of drug resistance in M. tuberculosis is sufficiently comprehensive remains unclear. Here we(More)
BACKGROUND The Yangtze River Delta (YRD) in China is a densely populated region with recent dramatic increases in energy consumption and atmospheric emissions. OBJECTIVES We studied how different emission sectors influence population exposures and the corresponding health risks, to inform air pollution control strategy design. METHODS We applied the(More)
miRNA globally deregulates human carcinoma. A critical open question is how many miRNAs functionally participate in cancer development, particularly in metastasis. We systematically evaluate the capability of all known human miRNAs to regulate certain metastasis-relevant cell behaviours. To perform the(More)
BACKGROUND Increasing evidence supports the immunomodulatory effect of vitamin D on allergic diseases. The combined role of prenatal and postnatal vitamin D status in the development of food sensitization (FS) and food allergy remains understudied. METHODS Plasma 25-hydroxyvitamin D (25(OH)D) levels of 460 children in the Boston Birth Cohort (BBC) were(More)
BACKGROUND Chronic kidney disease (CKD) is considered a serious worldwide public health problem, but data from developing countries are extremely limited. STUDY DESIGN Cross-sectional study. SETTING AND PARTICIPANTS A representative sample of 13,925 adults in Beijing, China. PREDICTORS Age (18 to 39, 40 to 59, 60 to 69, and >70 years), sex, urban or(More)
PURPOSE Cytoreductive nephrectomy has a survival advantage in select patients. Patients with sarcomatoid features are known to have poor outcomes. We reviewed the role of surgery in this population to see if these patients could be identified preoperatively. MATERIALS AND METHODS Cytoreductive nephrectomy cases identified as having sarcomatoid features or(More)