Low IgE is a useful tool to identify STAT3 gain-of-function mutations. Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations WHO criteria for diagnosis of polycythaemia vera included a gain-of-function mutation JAK2V617F as the major diagnostic criteria...
No pain, still gain (of function): the relation between sensory profiles and the presence or absence of self-reported pain in a large multicenter cohort of patients with neuropathyKeywords Sensory testingSensory phenotypeQSTPolyneuropathyNeuropathic pain...
(redirected fromgain-of-function mutation) Dictionary Thesaurus Medical Legal 1.the act or process of mutating; change; alteration 2.a change in the chromosomes or genes of a cell. When this change occurs in the gametes the structure and development of the resultant offspring may be affected ...
Odds ratios (ORs) for disease were calculated with asymptotic 95% CI; p values <0.05 were considered statistically significant after adjustment for multiple testing. To determine the relationship between protein levels and IL-6R A358D genotype, the protein levels of sIL-6R in 100 plasma samples ...
Zika virus (ZIKV) infection can be associated with neurological pathologies, such as microcephaly in newborns and Guillain-Barre syndrome in adults. Effective therapeutics are currently not available. As such, a comprehensive understanding of virus-host
Giant cell lesions of the jaw (GCLJ) are debilitating tumors of unknown origin with limited available therapies. Here, we analyze 58 sporadic samples using next generation or targeted sequencing and report somatic, heterozygous, gain-of-function mutations in KRAS, FGFR1, and p.M713V/I-TRPV4 ...
Keywords: mutant p53 (mutp53); missense p53; gain-of-function (GOF); p53 loss-of-heterozygosity (LOH); drug therapy; HSP90; HSF1 1. Introduction The tumor suppressor TP53 is the single most frequently mutated gene in over 50% of all human cancer patients. Alterations in p53 signaling ...
Functional consequences ofSCN1Amutation have been divergent and confusing. Initial gain-of-function effects for the Q1489K and L1649Q mutations, when testing the mutations in the closely related NaV1.5 channel subunit protein, were contradicted when the mutations were tested in the (proper) NaV1.1...
The effects on depression and daily features tend to be immediate, that on persistent conditions is lagged, in addition to results on cognitive function and resting hours persist with time. We find that outlying widows are particularly susceptible to negative health outcomes because of their weaker ...
De novo gain of function mutations in GRIN2B encoding the GluN2B subunit of the N-methyl-d-aspartate (NMDA) receptor have been linked with epileptic encephalopathies, including infantile spasms. We investigated the effects of radiprodil, a selective GluN2B negative allosteric modulator and other ...