Sentences with phrase «primarily by mutations»

Rett syndrome is a neurodevelopmental disorder that is caused primarily by mutations in the gene encoding for MeCP2, an important epigenetic regulator.

Not exact matches

As Saaïd Safieddine, CNRS Director of Research at the Institut Pasteur and co-senior author of the study with Prof. Christine Petit (head of the Genetics & physiology hearing unit at the Institut Pasteur), explains, «we have just shown that it is possible to partially correct a specific form of hereditary hearing loss accompanied by balance problems using local gene therapy performed after the embryogenesis of the ear, which is primarily affected by the mutation responsible for the disorder.

Muscular dystrophy, a disease caused by a genetic mutation on the X chromosome, primarily affects boys and comes in several varieties.

Pilocytic astrocytoma (PA) is a primarily pediatric brain tumor caused mainly by mutations in the BRAF gene.

[69,72] In gastrointestinal stromal tumors (GIST), secondary resistance to KIT inhibition is caused primarily by development of additional KIT mutations.

Currently the broadest database of mutations in cancer, the information in COSMIC is curated by expert scientists, primarily by scrutinizing large numbers of scientific publications.

The mutations responsible for these alleles were identified and described primarily by Sophie Candille in the laboratory of Dr. Greg Barsh at Stanford University.

Many types of phytoplankton do increase their numbers rapidly but they propagate primarily by asexual reproduction, which makes it less likely for populations to accumulate the genetic mutations that could allow them to adapt.