Many gene defects are relatively easy to identify experimentally, but obtaining information
about the effects of sequence variations and elucidation of the detailed molecular …

High-throughput genomic sequencing has focused attention on understanding differences
between species and between individuals. When this genetic variation affects protein …

The sheer volume of non-synonymous single nucleotide polymorphisms that have been
generated in recent years from projects such as the Human Genome Project, the HapMap …

Single nucleotide polymorphisms (SNPs) are the simplest and most frequent form of human
DNA variation, also valuable as genetic markers of disease susceptibility. The most …

Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL) …

Background—Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and
therapeutic implications. Hundreds of causative mutations in 12 known LQTS-susceptibility …

Growing evidence of the possibility of modulating protein–protein interactions with small
molecules is opening the door to new approaches and concepts in drug discovery. In this …

Cytochrome P450 oxidoreductase (POR) is required for metabolic reactions of steroid and
drug metabolizing cytochrome P450 proteins located in endoplasmic reticulum. Mutations in …

Single nucleotide polymorphisms (SNPs) are among the most common types of genetic
variation in complex genetic disorders. A growing number of studies link the functional role …

Mutations of the von Hippel-Lindau (VHL) gene are frequent in clear cell renal cell
carcinomas (ccRCC). Nonsense and frameshift mutations abrogate the function of the VHL …