Learn More
Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited(More)
Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis. By whole exome sequencing, we identified responsible gene of family 4794(More)
OBJECTIVE To observe the effect of electroacupuncture (EA) intervention on expression of phosphorylated mitogen activated protein kinase-P 38 (p-P 38 MAPK) protein and Interleukin 1beta (IL-1beta)mRNA in the frontal lobe and hippocampus in Alzheimer's disease (AD) rats so as to explore its mechanisms underlying improvement of AD in clinic. METHODS(More)
OBJECTIVE To study possible mechanisms of Shangjuxu (ST37) and the large intestine. METHODS Totally 40 SD rats were selected. The distension of end colon was used as injured afferent stimulus. Activities of locus coeruleus (LC) neurons were recorded by extracellular microelectrode technique. Shangjuxu (ST37) and Hegu (L14) were needled to observe general(More)
Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive weakness and spasticity of the lower limbs, in complicated forms, with additional neurological signs. To identify the genotype and characterize the phenotype in a Chinese HSP family, ten subjects from the family were examined through detailed clinical(More)
  • 1