Risk of mortality in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR)Heijmans, B. T.Gussekloo, J.Kluft, C.Droog, S.Lagaay, A. M.Knook, D. L.Westendorp, R. G. J.Slagboom, P. E....
The new findings suggest that people with the mutation are more likely to have muscle aches, the risk increases if they have more copies of the mutation, and the muscle effects differ depending on the statin they were prescribed. The study is published online in theJournal of the American Col...
New Gene Mutation Identified In Common Type Of DementiaResearchers have identified a new gene mutation linked to frontotemporal dementia, according to a study published in the July 10, 2007, issue of Neurology, the medical journal of the American Academy of Neurology.News Staff...
Per CHIP gene pair, these models included CHIP gene 1 mutation carrier status as the outcome, CHIP gene 2 mutation carrier status as the predictor, and age, sex, and smoking status (ever vs never) as covariates. P values are log10 transformed (see Table S1 for complete enrichment results)...
The P1 "warhead" residue plays an essential role in the interaction of a Kunitz inhibitor domain with a serine protease and a P1 mutation may alter the protease specificity of the Kunitz domain to a particular substrate and the reaction kinetics [48,76]. Kunitz inhibitors with a basic residue...
Genetic studies showed that the patient was compound heterozygous with a sequence variation in both of the two ACADM alleles; one had the common c.985A>G mutation and the other had a novel c.145C>G mutation. This is the first report for the ACADM gene c.145C>G mutation: it is ...
different types of DCM-causing mutations. Scientists used this gene-editing technology to swap a single nucleotide, the basic unit of DNA, to correct one type of mutation. In another set of cells, researchers replaced a piece of DNA from mutated RBM20 with a healthy segment of this gene. ...
The R37W mutation was present in relatives with rMDD and generalised anxiety disorder, but not in a relative with bipolar II, or any unaffected individual (Figure 3). Burden analysis for putative functional variants To explore the burden of SNPs of potential functional significance, all variants ...
Since the discovery of TMEM16A (anoctamin 1, ANO1) as Ca2+-activated Cl− channel, the protein was found to serve different physiological functions, d
In conclusion, donor cells were not detectable after BMT, indicating that the mother's BM did not engraft and that the patient had autologous BM reconstitution with development of partially functional T cells. IL-2Rγε gene mutation in the patient Because of the typical XSCID phenotype present...