Publications by authors named "Sheng-xi He"
Proximal spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder caused by deletion or mutation of the survival of motor neuron 1 (SMN1). Here, we studied SMA molecular pathology in 653 Chinese patients and found approximately 88.2% with homozygous SMN1 exon 7 deletion and 6.
View Article and Find Full Text PDFAssociation between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.
J Zhejiang Univ Sci B
January 2016
Article Synopsis
- The SMN1 gene's loss is the leading cause of spinal muscular atrophy (SMA), a disease affecting motor neurons, while the similar gene SMN2 can influence disease characteristics.
- A study analyzed methylation levels in specific regions of the SMN2 gene in 35 children with SMA, discovering significant differences in methylation patterns across SMA types.
- The findings suggest that methylation of SMN2 may impact the production of its transcripts, potentially affecting the severity and symptoms of SMA in patients.
[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2011
Objective: To investigate the type and frequency of gene conversion from SMN1 to SMN2 in Chinese patients affected with spinal muscular atrophy (SMA), and to explore the relationship between gene conversion and clinical phenotype.
Methods: Non-homozygous deletion of SMN1 gene exon 8 was screened among 417 patients with SMN1 exon 7 homozygous deletions. To analyze and verify the types of gene conversion, genomic DNA sequencing, multiplex ligation-dependent probe amplification (MLPA), and gene subcloning and sequencing were carried out.
[Effects of yi-zhi II on synaptic structure of hippocampal CA3 and maintenance of memory].
Zhongguo Ying Yong Sheng Li Xue Za Zhi
November 2008
Aim: To study the effects of yi-zhi II (a compond of Chinese Traditional Medicine) on the alteration of synaptic structure in hippocampal CA3 and maintenance of memoy.
Methods: By using the method of oral administration of yi-zhi II, the step-through test and electron microscopy, the latency of step-through and synaptic structure in hippocamal CA3 were tested.
Results: (1) The mice which had been given yi-zhi II prolong significantly the latency of step through (P < 0.