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To confirm the role of BRCA1 in the regulation of GR, the effects of overexpression or knockdown of BRCA1 were observed in 293 T cells, the human ovarian carcinoma cell line SKOV3, and primary ovarian cancer cells with identified BRCA1 mutations or those which were non-mutated.
Genes with multiple mutations or those which are fixed in the population are considered to be under selection29.
A drug, she found, can reverse the synapse number problems in mice with either autism-linked mutations or those deficient in MHCI.
Knockdown of HIF-1α by RNA interference (RNAi) remarkably sensitized cancer cells with oncogenic Ras mutations or those with PTEN inactivation or deletion to cetuximab treatment [16].
No differences were evident between tumours harbouring codon 12 KRAS mutations or those harbouring codon 13 mutations (data not shown).
Newly discovered mutations, or those of yet unknown effects, that are located within one of the HSs can be suspected to be activating.
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One of the mechanisms that may occur in highly mutated tumours, such as tumours with a POLE mutation or those with microsatellite instability, is where the large number of mutations causes a variety of frameshift mutations.
These included women with a known genetic mutation or those at high risk based on genetic assessment.
The lowest uptake was seen in women at highest risk carrying BRCA1/2 mutations or in those with a 50% probability of having a mutation (1/114, 0.9%).
Electrophysiological tests showed evidence of synaptic activity in differentiated neurons carrying non-pathogenic mtDNA mutations or in those that caused a mild defect of respiratory activity.
The term 'functionally relevant sequence variants' refers to those mutations or polymorphisms that can be shown through laboratory experiments to alter encoded protein structure or function, interaction with other proteins, or half-life and stability within the cell.
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