Výsledky vyhledávání - "Hong-Chen Cai"

Akademický článek

The congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregation.

Autor: Wang Zhang, Hong-Chen Cai, Fei-Feng Li, Yi-Bo Xi, Xu Ma, Yong-Bin Yan

Publikováno v: PLoS ONE, Vol 6, Iss 5, p e20564 (2011)

γD-crystallin is one of the major structural proteins in human eye lens. The solubility and stability of γD-crystallin play a crucial role in maintaining the optical properties of the lens during the life span of an individual. Previous study has s

Externí odkaz: https://doaj.org/article/a522b9c2fbc149e1beb58c67e3f38df4

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A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family

Autor: Yi-Bo Xi, Shiyi Zhou, Yong-Bin Yan, Jing Wang, Binbin Wang, Changhong Yu, Yi Wu, Hong-Chen Cai, Xu Ma, Lixin Xie, Sirui Zhou

Publikováno v: Human Mutation

To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the CRYGD gene revealed a c.1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f8ff49f04735a30cd8ff798f20d0e5
http://europepmc.org/articles/PMC3035819

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A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens

Autor: Hong-Chen Cai, Cailing Lu, Yi Tong, Yi-Bo Xi, Sha Wang, Fan-Chen Bao, Xiaobo Gao, Peng Li, Guang-Yu Zhao, Yan Ma, Juhua Yang, Shiyi Zhou, Xiaoqiao Li, Wei-Jie Zhao, Yong-Bin Yan, Xu Ma

Publikováno v: Human mutation. 33(2)

Congenital cataract is one of the leading causes of human blindness. In this study, we identified a novel, heterozygous c.385G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9677d454c563145f77dbaea6c9072eb1
https://pubmed.ncbi.nlm.nih.gov/22052681

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The Congenital Cataract-Linked G61C Mutation Destabilizes γD-Crystallin and Promotes Non-Native Aggregation

Autor: Xu Ma, Fei-Feng Li, Hong-Chen Cai, Wang Zhang, Yong-Bin Yan, Yi-Bo Xi

Publikováno v: PLoS ONE
PLoS ONE, Vol 6, Iss 5, p e20564 (2011)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd5bfe30baed78affa1f3b65af9ec1c
https://doi.org/10.1371/journal.pone.0020564

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