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  • tumors
  • Several genes known to contain mononucleotide short tracts in their coding sequences (TGF-β RII, IGFIIR, BAX, hMSH6, and hMSH3) are likely targets for mutations in these tumors. (uniroma1.it)
  • 0%). The mutations frequently were distributed heterogeneously throughout the tumors. (uniroma1.it)
  • Overall, frameshift mutations at i or more of these mononucleotide repeat microsatellites were found in 17 of 24 MI+ tumors (70.8%) but in none of the 10 MI negative neoplasms. (uniroma1.it)
  • In the seven EC patients with lymph node metastases, mutations in IGFRH were found more commonly in those with metastatic (three of seven patients) rather than primary (one of seven) tumors. (uniroma1.it)
  • mutants
  • Interestingly, unlike the previously reported 398 and 404 frameshift mutants, this variant binds and stabilizes ABHD5 expression but still fails to inhibit basal lipolysis as effectively as wild-type perilipin 1. (diabetesjournals.org)
  • Molecular characterization of these mutations demonstrated the inability of both mutants to inhibit basal lipolysis. (diabetesjournals.org)
  • amino
  • A frameshift mutation will in general cause the reading of the codons after the mutation to code for different amino acids. (wikipedia.org)
  • A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the active site of an ancestral esterase resulted in nylonase. (wikipedia.org)
  • Surprisingly, frameshifts are well stimulated at many of these runs by ethyl methanesulfonate, N-methyl-N'-nitro-N-nitrosoguanidine and 2-amino-purine, mutagens not widely known to induce frameshifts. (genetics.org)
  • detect
  • These specific frameshift indicator strains complement a set of six previously described strains which detect each of the base substitutions. (genetics.org)
  • Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle. (deepdyve.com)
  • severe
  • Both mutations cosegregated with partial lipodystrophy, severe insulin resistance, hepatic steatosis, and severe dyslipidemia in three French families. (diabetesjournals.org)
  • However
  • Frameshift mutations have been proposed as a source of biological novelty, as with the alleged creation of nylonase, however, this interpretation is controversial. (wikipedia.org)
  • However, based on other research and observations, these mutations seem to have an incomplete penetrance and some degree of codominance. (wikipedia.org)
  • previously
  • Both cases are phenotypically consistent with SMS and RAI1 mutation but also have other anomalies not previously reported in SMS, including spontaneous pneumothoraces. (vcu.edu)