Sentence examples for mutations and lack from inspiring English sources

Enzymes in parenthesis have undergone mutations and lack activity.

Human peroxisome biogenesis disorders (PBDs) are genetic diseases caused by peroxin mutations and lack effective treatments.

Although these findings were interesting, incomplete penetrance of the mutations and lack of power made the results equivocal.

Small family size, incomplete penetrance of mutations and lack of confirmatory records on tumours from older generations can often limit the power of such analyses.

In contrast, high-grade serous carcinomas frequently harbor p53 and BRCA mutations and lack the characteristic mutations of their low-grade counterparts.

Clinically-significant non-coding variants are a relatively unexplored source of pathogenic mutations and lack a general, high-throughput method to interpret their effects.

Four tumor specimens, with confirmed SMARCB1 mutations, and lacking CDKN1C expression, exhibited methylation indices at IC2 within the normal range (results not shown) suggesting that epigenetic change at IC2 is not responsible for CDKN1C silencing in primary rhabdoid tumors, consistent with observations in RT cell lines.

Thus, the mice that carry the Akita mutation and lack TSP1 (Tserve–) serve as a model for severe diabetic nephropathy.

The 1432A>G MTPAP mutation, and lack of ATM mutations, was later confirmed in RS63-7 once a cell line could be derived.

Recent data on the presence of a KRAS mutation and lack of response to EGFR-I represent an important step toward achieving that goal.

Lynch and Gabriel point out that since several simplifying assumptions are done in the model, including lack of back-mutation and lack of selection, this estimated is likely downwardly biased.