The normal functioning of p53 is a potent barrier to cancer. Tumour-associated mutations in TP53 are a hallmark of most human cancers and cause dramatic defects in p53 function.

Mutation and polymorphism data for Hirschsprung disease (HSCR) varies among ethnic groups. Single nucleotide polymorphisms (SNP) of RET proto-oncogene (RET) were recently shown to be associated ...

Utilizing genome-wide association studies, the deCODE group has identified a single nucleotide polymorphism in the alpha-myosin heavy chain — MYH6 — that predisposes to sick sinus syndrome.

Mutation causing protein misfolding remission discovered: Polymorphism prompts amyloidosis Date: May 11, 2010 Source: Mayo Clinic Summary: Light chain amyloidosis, a deadly protein misfolding ...

The human immunodeficiency virus (HIV) can contain dozens of different mutations, called polymorphisms. In a recent study an international team of researchers found that one of those mutations ...

Human Genetics: Concepts and Application Because of natural selection, different alleles are more likely to confer a survival advantage in different environments. Cycles of infectious disease ...

The MTHFR mutation is associated with increased risk of depression, bipolar disorder, autism, heart disease, migraines, certain cancers, and more.

The molecular rationale for examining the combined effect on cancer risk or prognosis is that the codon 72 polymorphism in cis with dysfunctional missense mutations might affect properties of the ...

The human immunodeficiency virus (HIV) can contain dozens of different mutations, called polymorphisms. In a recent study an international team of researchers, including MU scientists, found that ...