• unstable
  • Mutations involving expanded, unstable DNA repeat sequences are often referred to as 'dynamic mutations' - other examples of such mutations are Huntington disease and Myotonic dystrophy. (brainscape.com)
  • syndrome
  • Dr. Warren organized and led an international effort that isolated the FMR1 gene responsible for this syndrome in 1991. (pedsresearch.org)
  • A very specific sub-genotype of FMR1 has been found to be associated with polycystic ovarian syndrome (PCOS). (wikipedia.org)
  • prevents
  • Although the transfer of a number of genes from these organelles to the nucleus prevents them from living independently, each still possesses genetic material in the form of double stranded DNA. (wikipedia.org)
  • cases
  • In two cases, iPSC clones contained predominant CGG-repeat lengths shorter than measured in corresponding input population of fibroblasts. (nih.gov)
  • In these cases, CGG is abnormally repeated from 200 to more than 1,000 times. (wikipedia.org)
  • larger
  • Low concentrations of a Gp1 mGluR agonist produced larger eCB-mediated responses in Fmr1 KO mice than in wild-type (WT) mice, without affecting DSI. (jneurosci.org)
  • The increased susceptibility of Fmr1 KO slices to eCB-iLTD was physiologically relevant, since long-term potentiation of EPSP-spike (E-S) coupling induced by the mGluR agonist was markedly larger in Fmr1 KO mice than in WT animals. (jneurosci.org)
  • genetic
  • Family history is an important risk factor for both common complex conditions and single-gene disorders, and it incorporates not only shared genetic susceptibilities but also shared environmental, behavioral, and cultural factors. (aappublications.org)
  • less
  • First, individuals with autism have significantly reduced fecundity, they are 20 times less likely to have children than average, thus curtailing the persistence of mutations in ASD genes over multiple generations in a family. (wikipedia.org)
  • Length
  • We show that clones from reprogrammed FXS patient fibroblast lines exhibit variation with respect to the predominant CGG-repeat length in the FMR1 gene. (nih.gov)