Sentence examples for mutations reported to from inspiring English sources

The only mutations reported to date in Japanese patients with Oguchi disease, a rare form of stationary night blindness with autosomal recessive transmission, have been in the SAG (arrestin) gene.

It is notable that none of the MAP3K1 mutations reported to disrupt human testis development are truncating i.e. none encode early termination codons in the MAP3K1 polypeptide [13].

The majority of mutations reported to date are within the genes encoding the subunits of the mitochondrial NADH-quinone oxidoreductase, complex I. Establishment of animal models of LHON should help elucidate mechanism of the disease and could be utilized for possible development of therapeutic strategies.

This approach was taken in order to be as inclusive as possible when building the initial SPLN; however, strain-specific effects are known to influence RLS, and some of the mutations reported to increase RLS in other strain backgrounds do not have a similar life span-extending effect in the parental strains of the ORF deletion collection used for all RLS analysis in this study [17].

Mutations reported to date have been scattered across exons 1 8.

Copresence of mutations reported to be associated with NNRTIs confers significant increase to NVP resistance.

The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer, and the germline TP53 R337H mutation is the most common mutation reported to date.

Of the previously reported mutations, E89K was found in one additional patient, and R234P was found in 3 unrelated patients, making R234P the most common mutation reported to date in this disease.

Arg175His is a p53 "hot-spot" structural mutation reported to have defects with respect to transcriptional activation and also to negatively interact with wild-type p53 [55].

Most HPSE2 mutations in UFS are predicted to be null mutations, with only one missense mutation reported to date (10).

The PB1 protein showed the P598L mutation reported to enhance polymerase activity in mammalian cells and mice (3 ).