Sentences with phrase «myosin mutations»

For example, myosin mutations are believed to be behind an inherited disease that causes the walls of the heart muscle to become too thick or too thin.

Christine Petit, a molecular biologist at the Pasteur Institute in Paris, found that all 22 deaf individuals in a large family in southern Tunisia carry double copies of the myosin mutation.

Not exact matches

The French team and a British group that discovered the mouse gene both decided to see if the mutation — which hampers the production of a protein called myosin VIIA — might, as in the mice, explain inherited deafness without other sensory loss.

Functional diversity among human skeletal myosins and a myopathic mutation: ProQuest.

Mutation of Hof1 PEST motif phosphorylation sites leads to retention of Hof1 at the bud neck and a decrease in the rate of myosin contraction.

We investigated the role of myosin VI by examining the retinas of mice carrying a null mutation in the myosin VI gene.

11 mutations were identified in 3 distinct genes: β - myosin heavy chain (MYH7), α - cardiac actin (ACTC), and Troponin T (TNNT2).

In our second study we found that heterozygous mutations in genes encoding β - myosin heavy chain (MYH7), α - cardiac actin (ACTC1), cardiac troponin T (TNNT2), cardiac myosin - binding protein C (MYBPC3), and alpha - tropomyosin (TPM1) account for 30 % of cases of isolated LVNC in adult patients (Probst et al., 2011).