For example, mutations in a protein called p53, which normally detects abnormalities in DNA at the G1 checkpoint, can enable cancer-causing mutations to bypass this checkpoint and allow the cell to escape apoptosis.
For example, mutations in the membrane protein VAPB implicated in familial amyotrophic lateral sclerosis perturb a defined community of interactors.
For example, mutations in the BRCA1 and BRCA2 genes correspond with a roughly 50% to 80% risk of breast cancer.
For example, mutations in Nrxs and NLs are found in ASD patients (Südhof, 2008) and Eph receptor alterations are highly related with AD (Chen et al., 2012).
First, it can be seen that many of the major early transitions involved a small number of minor genetic changes with large phenotypic effects, for example mutations in regulatory elements and developmental control genes.
For example, mutations in SERPINF1 cause osteogenesis imperfecta type VI in humans.
For example, mutations in the BRCA1 gene (best known for its predictive role in breast cancer) have also been implicated in some fraction of ovarian, prostate, and pancreatic cancers.
For example, mutations in several genes involved in DNA replication and repair were associated with p53 upregulation [8], [9].
For example, mutations in the long terminal repeats have been used to improve expression, especially in embryonic cells[17].
For example, mutations in the insulin/IGF-1 receptor-like gene daf-2 protect animals from severe hypoxia [31].
In some Crohn's disease (CD) patients, for example, mutations in a microbial product sensor NLR, the NOD2/CARD15 protein, is associated with the disease susceptibility [15], [16].
