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OBJECTIVE To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23. METHODS We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. The disease locus in a French family and an Ashkenazi Jewish(More)
OBJECTIVE Catechol O-methyltransferase (COMT) is involved in the degradation of catecholamine neurotransmitters. Recent linkage studies of schizophrenia and molecular studies of velocardiofacial syndrome suggest that the COMT gene might be a candidate gene for schizophrenia. METHOD The authors systematically searched for mutations and microdeletion of the(More)
BACKGROUND Elevated plasma level of asymmetric dimethylarginine (ADMA) was reported to be associated with endothelial dysfunction and atherosclerotic risk factors. We assessed the prognostic value of plasma ADMA levels in 997 consecutive individuals referred for coronary angiography from July 2006 to June 2009. METHODS ADMA was measured by high(More)
The mammalian nitrilase (Nit) protein is a member of the nitrilase superfamily whose function remains to be characterized. We now show that the nitrilase family member 2 gene (NIT2) is ubiquitously expressed in multiple tissues and encodes protein mainly distributed in the cytosol. Ectopic expression of Nit2 in HeLa cells was found to inhibit cell growth(More)
BACKGROUND AND AIMS Elevated plasma asymmetric dimethylarginine (ADMA) levels have been observed in patients with insulin resistance and diabetes, and have been reported to predict adverse cardiovascular events in type 2 diabetic patients. However, the relationship between ADMA and glycemic control in patients with type 2 diabetes remained controversial. (More)
Despite widespread use of laparoscopic surgery for colorectal operations, its application for curative resection of colorectal cancer is still controversial. One of the major concerns is the impact of the laparoscopic procedure on dissemination of tumor cells. The main purpose of this study was to investigate the impact of laparoscopic surgery on(More)
A survey of public awareness and understanding of and attitudes toward epilepsy was made in Taipei City and Chin-San Village, Taiwan in 1992. In a population sample of 2,610 adults, 87% had read or heard about epilepsy, 70% knew someone who had epilepsy, 56% had seen someone having a seizure, 18% would object to having their children associated with persons(More)
We attempted to determine whether the degree of lateralization of independent bitemporal interictal spikes and sharp waves (ISSW) is correlated with good results after temporal lobectomy. Three observers independently counted ISSW in the scalp EEGs of 59 candidates for temporal lobectomy to determine the degree of lateralization of ISSW. Interobserver(More)
BACKGROUND Matrix metalloproteinase-2 (MMP-2) can degrade extracellular matrix and basement membrane, and play an important role in the development and progression of multiple carcinomas, including oral squamous cell carcinoma (OSCC). A -1306C-->T polymorphism in the MMP-2 promoter disrupts Sp1-binding site, and results in reduction of transcriptional(More)
OBJECTIVE Tetralogy of Fallot is a common cardiac anomaly that is associated with chromosome 22q11 microdeletion. In this study we examined the mode of transmission as well as the parental origin of microdeletion in patients with tetralogy of Fallot. METHODS Eighty-four children with sporadic tetralogy of Fallot (40 boys and 44 girls; mean age, 34 months)(More)