4 documents found, page 1 of 1
XRCC4 rs28360071 intronic variant is associated with increased risk for infant ...
Louzada-Neto,Orlando; Lopes,Bruno A.; Brisson,Gisele D.; Andrade,Francianne G.; Cezar,Ingrid S.; Santos-Rebouças,Cíntia B.; Albano,Rodolpho M.Abstract Early age acute leukemia (EAL) shows a high frequency of KMT2A-rearrangements (KMT2A-r). Previous investigations highlighted double-strand breaks arising from maternal exposure to xenobiotics during pregnancy as a risk factor for EAL and KMT2A-r. In this case-control study, we investigated the relationship between EAL and genetic variants of the nonhomologous end-joining (XRCC6 rs5751129, XRCC4 rs68693...
Lipodistrofia parcial familiar do tipo Dunnigan: atenção ao diagnóstico precoce
Leão,Lenora Maria Camarate Silveira Martins; Alencar,Renata Carvalho de; Rodrigues,Gisele da Cunha; Bouzas,Izabel; Gallo,Paulo; Rossini,AnaA lipodistrofia parcial familiar tipo Dunnigan é uma doença autossômica dominante rara. Em sua forma clássica, é resultante de uma mutação missense heterozigótica no gene LMNA, que codifica a proteína nuclear denominada lâmina tipo A/C. Caracteriza-se pelo desaparecimento progressivo do tecido adiposo subcutâneo nos membros, região glútea, abdome e tronco, que se inicia na puberdade, acompanhado de acúmulo de g...
Paraoxonase activity in sera from Piaractus mesopotamicus Holmberg (Characidae)...
Bastos,Vera Lucia F. Cunha; Rossini,Ana; Alves,Marcelo V; Ceccarelli,Paulo S; de Lima,José A. Ferraz; Bastos,Jayme CunhaA paraoxonase activity present in serum of two Brazilian fish species was consistently assayed at pH 8.5 using 7.5 mM paraoxon final concentration. The paraoxonase activity was more activated by 0.5 M NaCl in serum of Piaractus mesopotanricus Holmberg, 1887 (pacu) than in serum of Hypostomus punctatus Valenciennes, 1840 (cascudo). Apparent values of K M were 3.3 x 10-3 M for cascudo and pacu paraoxonase activit...
Paraoxonase activity in liver of Pacu, Piaractus mesopotamicus Holmberg (Charac...
Bastos,Vera Lucia F. Cunha; Folly,Evelize; Rossini,Ana; Ceccarelli,Paulo S.; Senhorini,José A.; Bastos,Jayme CunhaEnzymatic production of p-nitrophenol in liver of Piaractus mesopotamicus Holmberg, 1887 was consistently assayed at pH 8.5 using 7.5 mM paraoxon as substrate. This pacu liver paraoxonase activity was activated by NaCl. Apparent values of K M were 2.42 x 10-3 M in the presence of 0.5 M NaCl and 8.99 x 10-3 M without NaCl. Apparent maximum velocity values calculated in the absence and presence of 0.5 M NaCl were...