Jean-Louis Mandel

TL;DR: Immunoprecipitation of myotubularin from cultured cells represents a rapid and helpful method for classifying those cases where no mutation was found, and the amount of expression may be of diagnostic value for disease course in patients with a mutation.

TL;DR: While detection of amplification, using for instance EcoRI, appears sufficient for initial testing of mentally retarded patients, once the fra(X) diagnosis has been established, this work favors the use of an EcoRI+EagI digest, which detects both amplification and abnormal methylation, for analysis of the family, including carrier detection and prenatal diagnosis.

TL;DR: Two overlapping deletions in boys that in addition to MTM1 showed an unexpected abnormal genital development are found and are best explained by a contiguous gene syndrome.

TL;DR: It is shown that the IGF1R/Akt pathway is affected in Mtm1‐deficient murine muscles, characterized by an increase in IGF1 receptor and Akt levels in both the presymptomatic and symptomatic phases, supporting the hypothesis that the unbalanced regulation of the ubiquitin proteasome pathway and the autophagy machinery is a primary cause of the XLMTM pathogenesis.

TL;DR: The breakage events described here for the X chromosome should provide a minimal estimate for the frequency of chromosomal rearrangement events, such as breakage and inversion, which have affected autosomal synteny groups during the evolutionary period separating man from mouse.