Exact(2)
Interestingly, although DNA repair pathway is frequently defective in these tumors, we did not identify mutated genes directly related to this pathway.
Homologous recombination is the principal error-free DNA double-strand break (DSB) repair mechanism and is frequently defective in tumours (Kennedy and D'Andrea, 2006).
Similar(58)
Mutants have normal pharynx morphology, but gland projections are frequently defective, with 47% of mutants exhibiting swelling of projections or outgrowths along their length.
Among these changes, a hypertrigly-ceridaemic state is frequently evident4 9, resulting from defective triglyceride clearance, caused by systemic suppression of the enzyme lipoprotein lipase (LPL 9.
This phenotype is frequently observed in visually defective mutants, specifically in those with RGC impairments (Neuhauss et al., 1999; Muto et al., 2005).
Especially in a situation where replication is frequently paused due to a partially defective replication machinery, this could favour the amplification of mtDNA deletions that naturally occur at low frequencies.
MDM2, encoded by the human homologue of Murine Double Minute oncogene, is the principal negative regulator of p53, a transcription factor which plays key roles in cell division and response to DNA damage [ 1, 2]. p53 is frequently mutated in cancer resulting in defective functions, including apoptotic and cell cycle arrest programs [ 3].
Conclusion: Defective placentation, defined as failure of physiologic transformation of the myometrial segment of the spiral artery, is frequently present in preterm PROM.
You should come back and see more.
Candidate cancer drivers encoding homopolymeric or larger microsatellite repeats have been extensively examined in mutator tumor cell lines; for example many potential drivers with homopolymeric runs, such as TGFBRII, are found to be frequently mutated in mismatch repair defective tumors (reviewed in Kim et al. 2010; Li et al. 2004; Shah et al. 2010a).
A defective gastric emptying has been frequently reported in subjects with functional dyspepsia [ 53].
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