Mostrando 761 - 780 Resultados de 12,750 Para Buscar '"functional analysis"', tiempo de consulta: 2.18s Limitar resultados
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    “…RESULTS: In total, we identified 5 patient-specific mutations including K82N (two patients), S488Y (one patient), P1066T (two patients), P1206H (two patients) and I1264V (one patient) All these mutations located at the extracellular domain of LRP6 gene. In vitro functional analysis of patient-specific mutations demonstrated that these mutations resulted in a significant reduction in both protein level transporting to cell membrane and downstream Wnt signal activity. …”
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    “…These results suggest that precise expression of nocturnin is critical to proper development of early mouse embryos. Functional analysis of nocturnin may contribute to the understanding of the possible role of the deadenylase at mouse MZT.…”
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    “…These studies highlight the utility of Drosophila for in vivo functional analysis of highly conserved human disease genes.…”
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