Conclusions We found no evidence that the \\{SNPs\\} associated with \\{CRC\\} in the general population are modifiers of the risk for \\{MMR\\} gene mutation carriers overall, and therefore any evidence of proven clinical utility in Lynch syndrome....
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...
Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified...
As new mutations are being discovered, one mutation, the c.1085dupT in the ZMPSTE24 gene, in particular appears to be more common than others, and both homozygous and compound heterozygous mutations have been documented [Navarro et al., 2004, 2005; Moulson et al., 2005]....
Ashkenazi Jewish patients who have the milder, adult-onset form of the disease have one of these alleles and the S269G missense mutation in the other α-chain allele.32 In type 1 Gaucher's disease, three mutations in the acid β-glucosidase gene, N370S,33 L444P,34 and 84GG,35 ...
In 1998, a study examining a Dutch family with hereditary thrombocythemia found that THPO was the responsible gene for the disease.78 THPO encodes thrombopoietin, a glycoprotein hormone that regulates the production of PLT.53 A splice donor mutation in THPO leads overproduction of thrombo- poiet...
idiopathic erythro- cytosis.31,45,46 The different clinical phenotypes associated with the JAK2 exon 12 and V617F mutations may reflect, at least in part, stronger ligand-independent signalling by the former.45 What determines whether the acquisition of a JAK2-V617 mutation will result in PV ...
epilepsy, you have a higher chance of getting it than someone who doesn't. Doctors aren’t sure how it’s passed down, but they think it may have something to do with a gene mutation that affects nerve cells in the brain. It’s also possible to have this mutation and never get ...
(b) Genomic distribution of differentially methylated CpGs. The analysed CpGs could be associated with genes and localized in the 3′ UTR, gene body or in the promoter region. At the promoter level, the CpGs could be localized within 1,500 bp of the transcription start site (TSS1500), ...
In particular, the suggested novel function of the K-3 residue puts certain demands on backbone flexibility at this position, which may explain why any mutation of Gly13K−3 in human Ras GTPases turns them into major oncogenes [16,17,18]. In addition, comparative analysis of Arg fingers...