Point Mutation

Paired exome analysis of Barrett's esophagus and adenocarcinoma.

Stachler MD, Taylor-Weiner A, Peng S, et al. Paired exome analysis of Barrett’s esophagus and adenocarcinoma. Nat Genet. 2015;47(9):1047-55. doi:10.1038/ng.3343

Rationally engineered Cas9 nucleases with improved specificity.

Slaymaker IM, Gao L, Zetsche B, Scott DA, Yan WX, Zhang F. Rationally engineered Cas9 nucleases with improved specificity. Science. 2016;351(6268):84-8. doi:10.1126/science.aad5227

A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.

Clapham KR, Chu AY, Wessel J, et al. A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans. BMC Endocr Disord. 2016;16:7. doi:10.1186/s12902-016-0088-8

Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Garvie CW, Fraley CV, Elowe NH, et al. Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor. Protein Sci. 2016;25(11):2018-2027. doi:10.1002/pro.3019

Identification of and Molecular Basis for SIRT6 Loss-of-Function Point Mutations in Cancer.

Kugel S, Feldman JL, Klein MA, et al. Identification of and Molecular Basis for SIRT6 Loss-of-Function Point Mutations in Cancer. Cell Rep. 2015;13(3):479-88. doi:10.1016/j.celrep.2015.09.022

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Doan RN, Bae BI, Cubelos B, et al. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016;167(2):341-354.e12. doi:10.1016/j.cell.2016.08.071

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