• mGluR
  • 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)
  • syndrome
  • AKT3 gene abnormalities can cause megalencephaly - polymicrogyria -polydactyly-hydrocephalus syndrome. (epilepsydiagnosis.org)
  • This severe form of the disorder includes many of the features of classic Rett syndrome (including developmental delay, loss of language skills, and repeated hand wringing movements), but also causes recurrent seizures beginning in infancy. (epilepsydiagnosis.org)
  • 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)
  • 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)
  • novel
  • Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
  • Autism
  • The heritability of autism , however, is complex, and it is typically unclear which genes are responsible. (wikipedia.org)
  • This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. (wikipedia.org)
  • human
  • FMR1 Full-Length MS Protein Standard (NP_002015), Labeled with [U- 13C6, 15NL-Arginine and [U- 13C6, 15NL-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. (creative-proteomics.com)
  • Human CGGBP1 genome location and CGGBP1 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • cause
  • Some of the important gene abnormalities that cause epilepsy and/or have particular features that are important to recognize are presented in this section of EpilepsyDiagnosis.org. (epilepsydiagnosis.org)
  • ARFGEF2 gene abnormalities can cause periventricular nodular heterotopia , with microcephaly. (epilepsydiagnosis.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)
  • different
  • Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. (creative-proteomics.com)