Sentence examples for mutations that usually from inspiring English sources

They want to find healthy individuals who have genetic mutations that usually cause serious disease in those who carry them, such as those for the lung disorder cystic fibrosis.

The K- ras gene encodes two splice variants, K- ras 4A and 4B, and activating mutations that usually arise at codons 12, 13 or 61, jointly affect both isoforms [reviewed [ 6]].

These mutations may potentially be considered as primary LHON mutations, in the L3 haplotype background, and they are distinguished from the other three well established primary mutations that usually cause LHON to manifest in subjects who are carrying the haplogroup J lineage.

De novo tumour-specific promoter methylation represents an attractive target for developing biomarkers, as methylated tumour DNA can be detected in plasma and urine [ 36, 37] and the methodology to detect CpG promoter TSG methylation is more straightforward than that required to detect the wide variety of inactivating mutations that usually occur in TSGs.

Even silent mutations that usually do not change the amino-acid sequence may affect function through alterations in COMT mRNA structure and stability, thus influencing disease risk or treatment efficacy.

These outputs were parsed to search for RIP signatures in TE copies and the dinucleotide targets used in the transition type mutations that are usually associated with a RIP-like mechanism.

This conclusion is expected to be applicable to any multi-celled organism, as DNA is not perfectly replicated in any organism, and thus each genome replication cycle induces mutations that are usually too infrequent to be detected (10-6 to 10-9 mutations/base/replication) [ 18].

In fact, more than 50% of T-ALL patients carry Notch1-activating mutations that are usually in the heterodimerization (HD) domain and proline/glutamic acid/serine/threonine-rich motifs (PEST) of the Notch1 receptor, which result in delayed degradation of Notch1 [ 7].

It is the requirement of these two nucleotide mutations that makes viruses usually farther from the Herfst et al. set than the Imai et al. set.

Direct sequencing may be a promising tool to identify rare (i.e. minor allele frequency < 1%) mutations that are not usually covered in GWAS.

p300/CBP mutations that cause RTS are usually de novo mutations (i.e., not inherited from either parent), but in the extremely rare cases of vertical transmission, inheritance is Mendelian autosomal dominant.