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11 results on '"Ye, Lei"'

1. Cytology versus calcitonin assay in fine-needle aspiration biopsy wash-out fluid (FNAB-CT) in diagnosis of medullary thyroid microcarcinoma

Author

Liu, Ziyuan, primary, Zhou, Wenzhong, additional, Han, Rulai, additional, Zhou, Wei, additional, Zhang, Jie, additional, Li, Haorong, additional, Wan, Zhihan, additional, Jin, Yan, additional, Shen, Liyun, additional, Zhou, Yulin, additional, Wang, Shu, additional, Chen, Xi, additional, and Ye, Lei, additional

Published
2021
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11. Mutation analysis of SCNN1Bin a family with Liddle's syndrome

Author

Wang, Weiqing, Zhou, Weiwei, Jiang, Lei, Cui, Bin, Ye, Lei, Su, Tingwei, Wang, Jiguang, Li, Xiaoying, and Ning, Guang

Abstract

Liddle's syndrome has been known as a disorder associated with abnormal sodium reabsorption in the distal tubule and transmitted as a rare autosomal dominant trait. It is caused by mutations in the SCNN1Bor SCNN1Cgene, which truncate the cytoplasmic carboxyl terminus of the β and γ subunit of the epithelial sodium channel (ENaC). Genetic analysis of ENaC in a Chinese family with Liddle's syndrome revealed P616H of SCNN1Bcoaggregated with the phenotype, while this variant was not detected in 100 unrelated subjects. No mutation at γ ENaC could be detected in all members of the family. P616H is located in the conserved proline-rich PY motif of the βENaC. The PY motif can interact with the WW domain in Nedd4 and affect the activity of ENaC. Structural bioinformatics analysis confirmed that the functional interaction between Nedd4 and ENaC reduces in Liddle-ENaC (P616H) when compared with wild-type ENaC. In summary, P616H may be an underlying mechanism for the signs and symptoms of this family.

Published
2006
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