Timothy J. Mohun

TL;DR: It is shown that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts and reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background.

TL;DR: The screening of embryonic lethal and sub-viable mouse knockout lines from the Deciphering the Mechanisms of Developmental Disorders program for placental phenotypes found that 68% of knockout lines that are lethal at or after mid-gestation exhibited placental dysmorphologies, which highlight the hugely under-appreciated importance of placental defects in contributing to abnormal embryo development and suggest key molecular nodes that govern placenta formation.

TL;DR: It is proposed that MITR acts as a co‐repressor, recruiting a specific deacetylase to downregulate MEF‐2 activity, and is shown that this repression is mediated by direct binding of MITR to the histone de acetylase HDAC1.

TL;DR: It is shown that p18(Ubc9) acts as an E2-like enzyme for SUMO-1 conjugation, but not for ubiquitin conjugations, which suggests that the SUMO -1 conjUGation pathway is biochemically similar to the Ubc9p-conjugation pathway but uses a distinct set of enzymes and regulatory mechanisms.

TL;DR: The data suggest that mCer-1 shares structural, functional, and expression characteristics with Xcer and may participate in patterning the anterior of the embryo and nascent somite region, in part, through a BMP-inhibitory mechanism.