fa

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the syllable naming the fourth (subdominant) note of the diatonic scale in solmization

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The frequency of somatic anomalies and growth disturbances were recorded, and compared with those of other cohorts with documented FANCA mutations, as well as with the Rosendorff et al.
Given that we now know the molecular basis of FA in Afrikaner patients, we can assume that at least 80% of the patients in the above 2 cohorts would have carried founder FANCA mutations as the cause of their FA.
Genes of diverse functional groups and signaling routes appeared: Cytoskleleton (BCL7A, DYNC1L12, SEFT10, SEPT11), transcriptional and translational regulation (DEPDC1, GABPB1, LHFPL2, NFIB, POLR3C, RPL34, RPS3A, RPS21, RPS25, TFDP2, TRIM24, ZBTB1, ZBTB38, ZFP112), cell death (CASP2, INC2, MDM4, NAIP), DNA maintenance and processing (BAHCC1, FANCA, HIST1H3G, IK, KDM4C, MCM7, PRB3, RNASEH2B, SNRPE, TFDP2), signal transduction (ANXA2, ARHGAP19, C7orf47, CCDC50, DTX3, FHL2, P1K3CG, RALB, TICAM2), transport functions (ABCC1, FXYD2, S100A6, SCNN1C, XP05), oxidative stress response (SPATS2L, GSTT2B, NQ01), blood coagulation (FGA, MATR3, PROCR, PIK3CG), and others (ADAM22, ALDH3A2, FAM161A, HDDC2, HLA-F).
11] identified multiple founder mutations in the FANCA gene in this population.
3) La AF se asocia con alteracion en ocho genes, en donde el 70% de los pacientes tienen mutaciones en el gen FANCA, 10% en el gen FANCC, y el 10% en el gen FANCG; os otros genes rara vez se ven afectados.