Sentences with phrase «point mutation encoding»

We generated an Xpd knock - in allele with a point mutation encoding a single amino acid change (XPDG602D) found in the XPCS patient XPCS2 (Figure 1A — 1C).

Furthermore, XPTTD patient XP38BR carried a «causative» TTD mutation in one allele and a novel point mutation encoding XPDL485P in the other.

Not exact matches

By substituting a specific amino acid in a so - called «Notch ligand» encoded by JAGGED1, they found that this single point mutation can interfere with the important Notch signaling system and disrupt communication between the Notch ligand and the Notch receptors.

A rare, premature aging disease, Hutchinson - Gilford progeria is caused by a single point mutation in the gene encoding lamin A, which forms a protein scaffold on the inner edge of the nucleus that helps maintain chromatin structure and organize nuclear processes such as RNA and DNA synthesis.

This dichotomy points out the importance of an indirect influence on proteins whose altered function is required during carcinogenesis but are too essential to be mutated (i.e., mutation of their encoding genes could decrease the viability of cancer cells).