Sentence examples for mutations with major from inspiring English sources

Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations with major effects, or by rare multigene interactions of common genetic variants.

It is suspected that the involvement of many genes will be discovered during the upcoming years via identification of novel mutations with major effect sizes.

To determine whether POLE EDMs in MSS CRC constitute a tumor type with specific clinical characteristics, we investigated the associations of POLE mutations with major clinical parameters.

One possible explanation for our inability to find pathogenic EFHC1 coding mutations with major effects in our sample might involve differences in ancestry between our New York Hispanic sample and Mexicans from Los Angeles, in which the originally reported mutations were found.

Genetic mutations with major effects on ovulation rate in sheep were recently identified in two genes of the transforming growth factor (TGFβ) superfamily and a TGFβ receptor, namely bone morphogenetic protein 15 (BMP15), otherwise known as the growth differentiation factor 9b (GDF9b), GDF9 and activin-like kinase 6 (ALK6) otherwise known as the BMP receptor type IB (BMPRIB).

Modifier QTL have been mapped for numerous traits and in these studies the modified locus is typically a known gene containing a spontaneously arisen or engineered mutation with major phenotypic effects, such as hg [ 11, 19- 21].

Second, we report a surprisingly fast response to selection and investigate two alternative hypotheses that may explain it: the fixation of a pre-existing advantageous mutation with major phenotypic effect and the generation of new genetic variability by mutation at loci controlling flowering time.

In contrast to our assumption, we did not observe any significant associations of POLE mutations in general as well as mutation subgroups with major epidemiological clinical and genetic parameters in the total cohort.

In addition, the GII.4 genotype has been found to exhibit a high mutation rate, with major variants emerging every 2-3 years [ 13, 14].

In other systems, causative mutations at loci with major phenotypic effects on developmental traits have been shown to lie outside the coding unit of the underlying gene, as in the case of the Corngrass1 (Chuck et al. 2007) and teosinte branched1 loci, which are both important in maize domestication (Clark et al. 2006; Studer et al. 2011).

Although minor changes in TGR5 expression and plasma membrane localization were noted for several mutations, the premature stop codon Q296X was the only mutation with a major impact.