Sentence examples for been linked to mutations from inspiring English sources
X-linked amelogenesis imperfecta has been linked to mutations in the amelogenin gene (AMELX) located at Xp22.3 p22.1.
So far, most inherited cases have been linked to mutations in two genes, both on the same chromosome, number 17.
Stuttering, also known as stammering, has been linked to mutations in the lysosomal enzyme-targeting pathway, but how this remarkably specific speech deficit arises from mutations in a family of general "cellular housekeeping" genes is unknown.
CCD is associated with susceptibility to malignant hyperthermia (MH), and both conditions have been linked to mutations in human RYR1 gene, which encodes a calcium release channel known as ryanodine receptor (RyR1).
This is testified by severe organ malformation syndromes in mice homozygous for engineered null alleles of specific T-box genes and by the large number of human inherited organ-specific diseases that have been linked to mutations in these genes.
In human, a diverse collection of genetic diseases, named as ribosomopathies, have been linked to mutations in ribosomal proteins or AFs (Chakraborty et al., 2011; Freed et al., 2010; Narla and Ebert, 2010; Teng et al., 2013).
Not only aging processes but also carcinogenesis have been linked to mutation based mitochondrial dysfunction since a general feature of tumor biology is the impaired energy metabolism [ 47].
A form of protein messaging called Wnt signaling has drawn the attention of researchers because specific bone disorders have been linked to mutation-related errors in this pathway.
The A/WySn mutation has been linked to mutation of Wnt9b, and a total loss of Wnt9b generates a clefting frequency of 50 100% depending on background (Jin et al., 2012; Juriloff and Harris, 2008; Juriloff et al., 2006).
Fragile X is linked to mutations in a gene on the X chromosome called FMR1.
Conversely, in cancers, about half of the cases are linked to mutations in p53 leading to the impairment of p53-dependent apoptosis.
