Murine genetic models of PKD have been instrumental for mutation analysis, structure function studies, and for elucidating the mechanisms of cyst formation, growth and enlargement, and disease progression, and have served as models for the development of therapies to slow cyst growth and kidney enlargement.
For example, bud sport in Vitis have been instrumental to identify mutations in berry color or in GA signaling [24], [25].
Furthermore, in combination with short-insert fragment libraries and AB/SOLiD sequencing, these arrays provide high target-enrichment rates with relatively even coverage, which was found to be instrumental for reliable heterozygous mutation discovery with high sensitivity and specificity [ 27, 28].
Some somatic mutations are instrumental in causing diseases, especially cancers [ 6], or for the physiologic process of aging [ 7].
Thus, the presence of a Brca1 mutation was clearly instrumental in driving mammary tumors in double heterozygous mutants, which more closely mimic the genetic background of human BRCA1 mutation carriers.
Identification and experimental validation of driver gene mutations have been instrumental for our understanding of cancer biology (Vogelstein et al., 2013).
We found no association between maternal iron status and offspring's blood pressure and adiposity using both multivariable ordinary least squares regression and instrumental variable modeling with maternal C282Y mutation in the HFE gene as the instrument.
Acquired UPDs have been instrumental in the detection of gene mutations, microdeletions or epigenetically suppressed regions in cancer cells.
The sensitivity of the method can also be instrumental in excluding other BCR-ABL1 mutations as responsible factors for the observed TKI resistance.
Since the early 1990s, the HGVS has been instrumental in its push to standardize the mutation nomenclature.
