Diana Braunholz

TL;DR: It is shown that human mutations in the integral cohesin structural protein RAD21 result in a congenital phenotype consistent with a "cohesinopathy," and that dominant missense mutations result in more severe functional defects and cause worse structural and cognitive clinical findings.

TL;DR: Starting with a severely affected family, this work has identified a link between impaired soluble-guanylyl-cyclase-dependent nitric oxide signalling and myocardial infarction risk, possibly through accelerated thrombus formation, and demonstrated in vitro that mutations in both GUCY1A3 and CCT7 severely reduce α1-sGC as well as β1- sGC protein content, and impair soluble guanyly l cyclase activity.

TL;DR: It is demonstrated that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

TL;DR: It is reported that wild type THAP1 represses the expression of TOR1A, whereas dystonia 6‐associated mutant TH AP1 results in decreased repression of TOR 1A, suggesting transcriptional dysregulation as a cause of dystonIA.

TL;DR: The gene mutated in human Tricho-Rhino-Phalangeal syndrome, Trps1, represents an atypical member of the GATA-family of transcription factors and interacts with Indian hedgehog (Ihh)/Gli3 signaling and regulates chondrocyte differentiation and proliferation.