Sentence examples for mutations have largely from inspiring English sources

Genome-engineered cells homozygous for these mutations have largely normal centriole numbers but show reduced CEP120 levels, compromised recruitment of distal centriole markers, and deficient cilia formation.

TET2 mutations have largely not been uniformly shown to have prognostic significance; no influence was demonstrated on survival, rate of leukemic transformation, or thrombotic tendency in MPN patients (Hussein et al. 2010; Tefferi et al. 2009a, b).

Previous analysis of such mutations has largely been restricted to monitoring effects on integrin activation, and not cellular responses such as cell spreading or FA assembly.

The discovery of the various FTLD-causing mutations has largely been driven by the genomic analysis of subgroups of patients classified according to the heterogeneous pathologies underlying FTLD.

The identification of oncogenic driver mutations has largely relied on the assumption that genes that exhibit more mutations than expected by chance are more likely to play an active role in tumorigenesis.

However, it is conceivable that the true frequency of intronic mutations has largely been underestimated because deep intronic sequences are not conventionally sequenced and, most aberrant transcripts are expressed at low abundance and are usually prone to degradation by nonsense-mediated mRNA decay (NMD) mechanism [ Maquat, 2004].

Previous studies attempting to establish a direct link between active smoking and levels of somatic mutation have largely discounted the effects of passive or secondary exposure, and have produced contradictory results.

It has been hypothesised, however, that this may be owing to the presence of more than one type of ATM heterozygote, and to the approaches taken to identify ATM mutations in large-scale studies that have largely focused on looking for truncating mutations rather than missense types of mutation [ 45]. Biochemical data also implicates ATM in breast cancer.

However, a few exceptions aside, the functional consequences of those mutations have remained largely elusive.

ATM gene mutations have been largely studied in CLL patients with del(11q); however, they have been found in only 8 30% of 11q- patients [ 49], indicating that other genes could play a role in the pathobiology of 11q deletions in CLL.

The most established techniques for point mutation detections in DNA have largely relied on the amplification power of the polymerase chain reaction (PCR) coupled with quantitative fluorescence detection and/or DNA sequencing techniques such as pyro-/next generation sequencing of the amplified product.