Sentence examples for mutations producing a from inspiring English sources

We recently established CAV3-encoded caveolin-3 as a novel LQTS-associated gene with mutations producing a gain-of-function, LQT3-like molecular/cellular phenotype.

Most of the major findings that have emerged from research on Drosophila were driven by the identification of mutations producing a chosen phenotype via unbiased forward genetic screens.

Mutations of the menin gene leading to MEN1 syndrome are classically nonsense or missense mutations producing a dysfunctional protein product.

Pathological GRN mutations found to date cause disease as a function of haploinsufficiency, with mutations producing a premature termination of the coding sequence being largely to blame.

In CHO cells, mutations producing a truncated γ-sarcoglycan without the cysteines in the EGF-like domain do not permit sarcoglycan complex assembly (Ref. 82), as demonstrated in muscle samples from patients (Ref. 98).

Interestingly, the conservation of the TGA codon used by the tammar, koala, pig, dolphin and cow for all species but the cat (CGA) suggested it was the ancestral ELP/ CTI stop codon, with more recent mutations producing a shortened ELP/CTI C-terminus in some species.

The trouble, they report in the current issue of Nature, was that each separate cluster of mutations produced a dead receptor, no matter which one was chosen first.

One category of mutations produces a protein that is able to insert itself into the membrane of the cell but contains a "rusty gate" that closes off the passage of chloride.

A series of experiments eventually showed that four mutations produced a virus that transmitted well among the animals, he said.

In contrast, mutations associated with dystonia-parkinsonism do not impair catalytic activity, and two mutations produce a significant increase in specific activity for phospholipid but not lysophospholipid substrates.

A-band TTN truncation mutations produce a shorter TTN protein with impaired M-band signaling.