Mutations

Some articles on mutations, mutation:

CDKL5 - Mutations
... At least 10 mutations in the CDKL5 gene have been identified in girls with an atypical form of Rett syndrome known as the early-onset seizure variant ... Some CDKL5 mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function ... Other mutations lead to the production of an abnormally short, nonfunctional version of the protein ...
Trinucleotide Repeat Disorders - Genetics - Why Three Nucleotides?
... that are not multiples of three could cause frameshift mutations ... If the frameshift mutations altered the expression of developmentally obligatory pathways, then non-trinucleotide repeats may be masked by developmental lethality ... Mutations of 3 base pairs, on the other hand, do not cause a catastrophic frameshift mutation, and unless a stop codon (TAG, TAA, TGA) is the triplet that ...
Sequenom - MassARRAY Analyzer 4
... Sequenom Oncomap Version 3 – "core" set interrogates ~450 mutations in 35 genes ... An "extended" set interrogates ~700 mutations in 113 genes ... identifies 396 unique "druggable" or "actionable" mutations in 33 cancer genes ...
Somatic Evolution In Cancer - Somatic Evolution in Therapeutic Resistance - Resistance To BCR-ABL Targeting Drugs
... resistance often develops through a mutation that changes the shape of the binding site of the drug ... Sequential application of drugs can lead to the sequential evolution of resistance mutations to each drug in turn ... to control gastrointestinal stromal tumors (GISTs) that are driven by mutations in c-KIT ...
Synthetic Lethality
... Synthetic lethality arises when a combination of mutations in two or more genes leads to cell death, whereas a mutation in only one of these genes does not, and by itself is said to be viable In a synthetic lethal ... stability despite genetic variation, environmental changes and random events such as mutations ... Since synthetic lethal mutations are inherently inviable, common approaches are to employ temperature sensitive mutations or put mutations under the control of a regulated promoter to allow exploration of ...