R.F. Kooy

TL;DR: It is concluded that Fmr1 knockout mice might be a valid model of fragile X mental retardation and shown that knockouts exhibit subnormal spatial learning abilities and marginal motor performance deficits.

TL;DR: No evidence for a function of FMR1 in STP or LTP is found, as no increase in Fmr1 mRNA could be detected, neither in cortex nor in total brain, during the first 2 1/2 hr after pentylenetetrazol-induced seizures, making it unlikely that Fmr 1 is an immediate early gene in mice.

TL;DR: A high frequency of subtelomersic abnormalities detected in an unselected population warrants further investigation about the feasibility of routine screening for subtelomeric aberrations in mentally retarded patients.

TL;DR: The results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes and identify cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes.

TL;DR: A paradigm-shifting concept in the perception of AD is proposed whereby accumulating mosaic somatic mutations promote brain pathology, with intact ADNP protecting against AD-tauopathy.