Simon T. Ball

TL;DR: It is shown that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heterozygous mice, and in homozygotes this is accompanied by the formation of Lewy-like inclusion bodies, thus resembling key features of human pathology.

TL;DR: It is established that a paternally derived targeted deletion of the germline differentially methylated region (DMR) associated with the antisense Nespas transcript unexpectedly affects both the expression of all transcripts in the Gnas cluster and methylation of two DMRs.

TL;DR: This study has validated SHIRPA using a large cohort with one single mutation, 'legs at odd angles that causes neurological dysfunction', and this is the first longitudinalSHIRPA analysis.

TL;DR: The X chromosome-linked scurfy (sf) mutant of the mouse is recognized by the scaliness of the skin from which the name is derived and results in death of affected males at about 3-4 weeks of age.

TL;DR: It is proposed that Nespas is an additional control element in the imprinting region of mouse distal Chr 2; it adds further complexity to the Gnas-imprinted gene cluster.