Because the discovery of a link between mismatch repair deficiency and sporadic or
inherited human cancers characterized by microsatellite instability (MSI-H tumors), genes …

▪ Abstract DNA mismatch repair (MMR) is one of multiple replication, repair, and
recombination processes that are required to maintain genomic stability in prokaryotes and …

The Escherichia coli gene recQ was identified as a RecF recombination pathway gene 1.
The gene SGS1, encoding the only RecQ-like DNA helicase in Saccharomyces cerevisiae …

Colorectal cancer is the third most common cause of cancer-related death in both men and
women in the western hemisphere. According to the American Cancer Society, an estimated …

The observation that mutations in tumor suppressor genes can have haploinsufficient, as
well as gain of function and dominant negative, phenotypes has caused a reevaluation of …

1999 Nature America Inc.• http://genetics. nature. com correspondence nature genetics•
volume 23• november 1999 269 and Scd2, a functional SCD and its pseudogene exist in …

The incidences of microsatellite instability (MSI) and underlying DNA mismatch repair
(MMR) defects in pancreatic carcinogenesis have not been well established. We analyzed …

This is the first report showing that inactivating mutations in SLC4A4 cause permanent
isolated pRTA with ocular abnormalities. The corneal endothelium transports fluids, Na+ and …

Coding region frameshift mutation caused by microsatellite instability (MSI) is one
mechanism contributing to tumorigenesis in cancers with MSI in high frequency. Mutation of …

The BLM gene belongs to the RecQ helicase family and has been implicated in the
maintenance of genomic stability. Its homozygous germline inactivation causes Bloom …