Mostrando 921 - 940 Resultados de 12,750 Para Buscar '"functional analysis"', tiempo de consulta: 0.79s Limitar resultados
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    “…The clinical features of TEK variants carriers were comparable to that of TEK-mutated patients identified in other populations and CYP1B1-mutated individuals from in-house database. Functional analysis confirmed four variants involving evolutionarily conserved residues to be loss-of-function, while one variant (p.R1003H) located in tyrosine kinase domain seemed to be an activating mutation. …”
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    “…The trial-based functional analysis (TBFA) offers several advantages in natural settings, such as time efficiency and ecological validity. …”
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    por Wu, Fei, van der Klei, Ida J.
    Publicado 2022
    “…Here, we report on a structure–function analysis of Pex32. Localization studies of various Pex32 truncations showed that the N-terminal transmembrane domain of Pex32 is responsible for sorting. …”
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    “…Fisher's exact test revealed a significant association between HECA variations and CHD compared with those in gnomADv2‐East Asians(p = 0.0027). Further functional analysis suggested that the variant p. W137fs resulted in a deficiency of the normal HECA protein, and HECA deficiency altered AC16 cell cycle progression, increased cell proliferation, and migration, and promoted the activation of the PDGF‐BB/PDGFRB/AKT pathway. …”
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