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Gain-of-function research (GoF research or GoFR) is medical research that genetically alters an organism in a way that may enhance the biological functions of gene products. This may include an altered pathogenesis , transmissibility , or host range , i.e., the types of hosts that a microorganism can infect.
STAT3 gain-of function (GOF) is a rare genetic disorder of the immune system, leading to early-onset autoimmunity and a variety of multi-organ disorders.The condition is progressive and manifests through a broad spectrum of clinical symptoms, including lymphadenopathy, autoimmune cytopenias, growth delays, enteropathy, lung disease, endocrine disorders, arthritis, autoimmune hepatitis ...
A neomorphic mutation causes a dominant gain of gene function that is different from the normal function. [1] A neomorphic mutation can cause ectopic mRNA or protein expression, or new protein functions from altered protein structure. Changing wildtype gene dose has no effect on the phenotype of a neomorph. [2] m/Df = m/+ = m/Dp
With various genomic and genetic methods was discovered, that a heterozygous gain of function mutation of STAT1 is a cause of more than a half CMC cases. This mutation is caused by defect in the coiled-coil domain, domain that binds DNA, N-terminal domain or SH2 domain.
Neomorphic mutations are a part of the gain-of-function mutations and are characterized by the control of new protein product synthesis. The newly synthesized gene normally contains a novel gene expression or molecular function. The result of the neomorphic mutation is the gene where the mutation occurs has a complete change in function. [56]
The Atlas of Variant Effects Alliance (AVE), [32] founded in 2020, is an international consortium aiming to catalog the impact of all possible genetic variants for disease-related functional genomics by creating variant effect maps that reveal the function of every possible single nucleotide change in a gene or regulatory element. AVE is funded ...
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The CED-9 gene was discovered in 1992 while searching the genome of C. elegans for mutations affecting cell death. [2] The first mutation identified was a dominant gain of function mutation referred to as n1950 that allowed cells to survive when they were fated to die. [2]