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Ni Zhao

Publications and source records attributed to Ni Zhao.

2 recordsLinked to original sources

The Q653R substitution in the spike protein is associated with attenuation of a GVI-1 infectious bronchitis virus strain.

The GVI-1 genotype of infectious bronchitis virus (IBV) has become increasingly prevalent in Asia. In this study, a highly pathogenic GVI-1 strain (GVI-1-WT) was attenuated by 110 serial passages in embryonated chicken eggs, yielding an attenuated strain (GVI-1-E110). Comparative genomic analysis identified two amino acid substitutions, S523I, Q653R and a nine-amino-acid truncation in the spike (S) protein. To evaluate the contribution of the two point mutations to virulence attenuation, recombinant viruses carrying Q653R and S523I substitutions were generated using a reverse genetics system based on the GVI-1-WT strain as the backbone. Their replication and pathogenicity were assessed in embryonated eggs and specific pathogen-free chickens. The Q653R substitution was associated with reduced viral replication in embryonated chicken eggs and pathogenicity in specific pathogen-free chickens, whereas the S523I mutation alone showed a limited effect but enhanced attenuation when combined with Q653R. However, the attenuation phenotype of the recombinant viruses did not fully recapitulate that of the passaged strain GVI-1-E110, suggesting that additional mutations, including the identified truncation and mutations in replicase-associated genes outside the S protein, may also contribute to virulence attenuation. This study indicates that spike protein mutations are involved in the attenuation of GVI-1 IBV strains, and provides insights into the molecular basis of IBV attenuation during serial passage. Further studies are required to elucidate the underlying mechanisms and to evaluate their potential relevance for vaccine development.

GVI-1 genotype

COMMD9-regulated endothelial cell abnormality-induced hypercoagulability is associated with Budd-Chiari syndrome.

BACKGROUND: Budd-Chiari syndrome (BCS) presents diagnostic and treatment challenges owing to its insidious onset. Genetic variants associated with BCS vary geographically; in Asian populations, the condition is primarily caused by membranous obstruction composed of endothelial cells (ECs). A better understanding of the genetic pathogenesis of membranous BCS may offer new insights into disease mechanisms. METHODS: This study employed whole-exome sequencing to identify candidate genes responsible for EC abnormalities in 485 patients with membranous BCS and 329 patients with vascular malformations (VaMs). Functional investigations were conducted to validate the selected genes in vitro and in vivo. RESULTS: Whole-exome data revealed that the frequency of variants in the vascular function-related KLHDC2 exceeded that of JAK2 in BCS. Knockdown of KLHDC2 promoted adhesion and suppressed proliferation of ECs. In addition, 92 genes enriched for rare variants overlapped between BCS and VaMs. Systems biology analysis revealed two gene clusters, including COMMD9, enriched in proteins intolerant to loss-of-function mutations. Furthermore, suppression of COMMD9 impaired EC migration and tube formation, inhibited subintestinal angiogenic sprouting in zebrafish, and elevated EC adhesion. Transcriptomic analysis linked COMMD9 to EC abnormalities via the PI3K-Akt pathway. Commd9 knockdown promoted venous hypercoagulability in vivo following drug or ligation-induced stenosis. CONCLUSIONS: These findings indicate that multiple rare genetic variants, particularly in COMMD9, are involved in the development of membranous BCS by regulating hypercoagulability induced by EC abnormalities. These findings may help guide future clinical research towards improved understanding and treatment of BCS.

Budd–Chiari syndrome