While increased high density lipoprotein cholesterol level was found to be associated with 36% lower risk of obesity.4 LPL gene rs328 (S447X) polymorphism is reported as gain of function
by many investigators.
The mutation was present with a frequency of 25% within the sample, representing a somatic gain of function
"What we know is that if you have a gain of function
mutation in CARD 14, we think that this activates the NFkB pathway and leads to increased inflammation of the skin.
HIROSHIMA, Japan, June 8, 2017 - A clinical study testing the response of 15 patients with a "gain of function
" mutation of the STAT1 gene to stem cell transplantation found that only five were cured - a "disappointing" but encouraging result, according to the researchers.
The authors tested the effects of the drug on action potential properties and conduction velocity in the settings of two Na+ channel gain of function
mutations that are correlated with hyperexcitability and ectopic premature contractions.
Among these diseases, APECED, ALPS, IPEX, IPEX-like syndromes (CD25 and STAT5b deficiency, LRBA deficiency, CTLA4 deficiency, gain of function
mutation of the STAT1 gene), IL-10/IL-10 receptor deficiency and newly defined Phospholipase C-gamma-2-related autoantibody deficiency and immune dysregulation (PLAID) are characterized by autoimmunity.
Genetic mutations in sodium channels result in a gain of function
or loss of function with a concomitant change in sensitivity to painful stimuli.
CYP2C19 loss of function (LOF) and gain of function
(GOF) genotype, adenosine 5′-diphosphate (ADP)-channel platelet inhibition rate (PIR) tested by TEG and the occurrence of 3-month major adverse cardiovascular events and ischemic events were assessed in 116 patients.
Gain of function
mutations in the tumor suppressor gene P53.
In addition, it has been shown that mutant p53 proteins are able to inhibit WT TP53 through dominant negative gain of function
. Different mutated p53 proteins may inhibit DNA damage response, cell cycle control and apoptosis process induced by the WT one.