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Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median(More)
PURPOSE Genetic variation in fibroblast growth factor receptor 2 (FGFR2) is a newly described risk factor for breast cancer. This study aimed to evaluate the association of four single nucleotide polymorphisms (SNPs) in FGFR2 with breast cancer in Han Chinese women. METHODS Two hundred three women with breast cancer and 200 breast cancer-free age-matched(More)
OBJECTIVES The relative length of the second-to-fourth digits (2D:4D) has been linked with prenatal androgen in humans. A recent study shows that the 2D:4D ratio in mice is controlled by the balance of androgen to estrogen signaling during a narrow window of digit development. Androgen receptor (AR) activity is higher in digit 4 than in digit 2, and(More)
With the development of demand side management for future smart grid applications, residential loads are expected to provide elastic response to fluctuating generation. The smart meter of a household can implement such functionality by using various control schemes or algorithms developed to schedule the use of residential loads with optimal customer and(More)
INTRODUCTION ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese. METHODS We selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on(More)
OBJECTIVE A genome-wide association study and 2 replication studies identified 2 single-nucleotide polymorphisms (SNP) of caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) at Chr 9q34.3 associated with ankylosing spondylitis (AS) in whites. We explored a possible association of SNP in(More)
MicroRNA-155 (miR-155) was previously found involved in the development of systemic lupus erythematosus (SLE) and other autoimmune diseases and the inflammatory response; however, the detailed mechanism of miR-155 in SLE is not fully understood. To explore the in vivo role of miR-155 in the pathogenesis of SLE, miR-155-deficient Fas(lpr/lpr)(More)
OBJECTIVE To investigate the relationship between the -308G/A, -857C/T and -1031T/C of tumor necrosis factor alpha gene (TNF- alpha), -174G/C and -572C/G of interleukin-6 gene (IL-6) polymorphisms and schizophrenia. METHODS Genomic DNA was isolated from the venous blood leukocytes of 346 unrelated patients with schizophrenia and 323 healthy unrelated(More)
Orosomucoid-like 3 (ORMDL3) has been associated with asthma and a series of autoimmune disorders, and is involved in endoplasmic reticulum-mediated inflammatory responses. However, its clinical significance and the molecular mechanism underlying its expression are still largely unclear. To elucidate the mechanisms of human ORMDL3 transcriptional regulation,(More)
With the increased penetration of wind generation, the traditional control scheme of the wind turbine (WT), which is designed for maximum wind power extraction, is no longer suitable to meet emerging grid requirements for wind farms (WFs) to participate in frequency regulation. The control scheme of the WT with respect to grid frequency regulation is(More)