Sentence examples for mutations in functionally from inspiring English sources

These data support that selections have occurred to enrich mutations in functionally significant regions such as the kinase domain to facilitate tumorigenesis.

Overall, a concept emerges according to which the amount and severity of mutations in functionally related genes are crucial for the clinical phenotype.

Various cilia-associated disorders show more severe phenotypes in patients with additional modifying mutations in functionally related ciliary genes as seen in patients with homozygous NPHP1 deletions, in whom, e.g., additional NPHP6 mutations could be detected in patients with a more severe neurological phenotype [19].

We apply the algorithm to genomes of bacteria, fly, and mammals, and find several clusters of mutations in functionally important regions of proteins.

This study showed that mutations in functionally important domains of the myosin head, including the binding sites for ATP and actin, strongly interfered with assembly of MyHC into thick filaments in body wall muscles [39].

At the same time, disruptive mutations in functionally important but widely expressed genes would tend to lead to embryonic lethality instead of disease.

These are neoplasms that are all caused by loss-of-function mutations in molecules functionally classified as tumor-suppressor genes, and they are characterized by familial, juvenile or young onset and may be multicentric or bilateral.

Here, we identified mutations in two functionally related genes (DDHD1 and CYP2U1) in individuals with autosomal-recessive forms of HSP by using either the classical positional cloning or a combination of whole-genome linkage mapping and next-generation sequencing.

In these screens, a subset of genes termed 'genetic hubs' are found to buffer the effects of mutations in many functionally diverse loci [8], [11].

Mutations in three functionally diverse genes cause Rett Syndrome.

We undertook clinical, neurophysiological and biochemical characterization of patients with mutations in SLC52A2, functionally analysed the most prevalent mutations and initiated a regimen of high-dose oral riboflavin.