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Your search keyword '"Song, Zhi"' showing total 14 results
Start Over Author "Song, Zhi" Journal neuroscience letters
14 results on '"Song, Zhi"'

12. LINGO1 rs9652490 variant in Parkinson disease patients

Author

Guo, Yi, primary, Jankovic, Joseph, additional, Song, Zhi, additional, Yang, Huarong, additional, Zheng, Wen, additional, Le, Weidong, additional, Tang, Xiangqi, additional, Deng, Xiong, additional, Yang, Yan, additional, Deng, Sheng, additional, Luo, Ziqiang, additional, and Deng, Hao, additional

Published
2011
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14. Association of the AADAC gene and Tourette syndrome in a Han Chinese cohort.

Author

Deng, Xiong, Yuan, Lamei, Deng, Hao, Zheng, Wen, Song, Zhi, and Yang, Zuocheng

Subjects
*TOURETTE syndrome, *DEACETYLASES, *RNA splicing, *CHINESE people, *COHORT analysis, *PHYSIOLOGY, *GENETICS, *PATIENTS
Abstract

Tourette syndrome (TS) is a complex neuropsychiatric disorder with chronic motor and vocal tics. Though the etiology is elusive, strong evidence for a genetic contribution to TS has been established. To date, various chromosomal or genetic alterations have been implicated in its pathogenesis. Recently, the deletion in the arylacetamide deacetylase gene ( AADAC ) was reported to be associated with TS. To investigate the association between the AADAC gene variants and TS, we conducted genetic analysis of the AADAC gene in 200 Han Chinese patients and 300 ethnicity-matched normal controls. Two variants, including a heterozygous splice-site variant, c.361 + 1G > A (rs762169706), and a missense variant, c.744A > T (p.R248S, rs186388618), were identified in two unrelated patients. The c.361 + 1G > A variant, absent in 300 ethnicity-matched controls, led to the deletion of exon 2 in AADAC mRNA, probably associated with development of TS. The c.744A > T variant, predicted to be damaging, was identified in two normal controls. The findings indicate that the AADAC gene c.361 + 1G > A variant may be a potential candidate factor for TS development, though further investigations are warranted. [ABSTRACT FROM AUTHOR]

Published
2018
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