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Your search keyword '"Huang, Shurong"' showing total 14 results
Start Over Author "Huang, Shurong" Publisher wiley
14 results on '"Huang, Shurong"'

1. Transgenic mice with ectopic expression of constitutively active TLR4 in adipose tissues do not show impaired insulin sensitivity

Author

Ono‐Moore, Kikumi D., primary, Zhao, Ling, additional, Huang, Shurong, additional, Kim, Jeonga, additional, Rutkowsky, Jennifer M., additional, Snodgrass, Ryan G., additional, Schneider, Dina A., additional, Quon, Michael J., additional, Graham, James L., additional, Havel, Peter J., additional, and Hwang, Daniel H., additional

Published
2017
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14. LMNA mutations in progeroid syndromes.

Author

Huang S, Kennedy BK, and Oshima J

Subjects
Animals, Humans, Progeria metabolism, Werner Syndrome metabolism, Lamin Type A genetics, Mutation, Progeria genetics, Werner Syndrome genetics
Abstract

Segmental progeroid syndromes are disorders in which affected individuals. present various features that suggest accelerated ageing. The two best-known examples are Hutchinson-Gilford progeria syndrome (HGPS, 'Progeria of childhood') and Werner syndrome (WS, 'Progeria of the adult'). A novel, recurrent de novo mutation in the LMNA gene, responsible for the majority of HGPS cases, results in an in-frame deletion of 50 amino acids, including endoproteolytic sites required for processing of prelamin A to mature lamin A protein. Another mutation results in a 35 amino acid in-frame deletion with a milder HGPS phenotype. WRN, the gene responsible for the majority of WS cases, encodes a multifunctional nuclear protein with exonuclease and helicase activities and may participate in optimizing DNA repair/recombination. A subset of WS patients do not show mutations at the WRN locus (atypical WS), but show heterozygous amino acid substitutions in the heptad repeat region of lamin A. Structural analysis suggests that mutations in atypical WS may interfere with protein-protein interactions. When compared to WRN-mutant WS, LMNA-mutant atypical WS patients appear to show earlier onset and possibly more severe ageing-related symptoms.

Published
2005

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