Martin Poot

TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.

TL;DR: The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.

TL;DR: The pattern of random joining of chromosomal fragments that is observed here strongly resembles the somatic rearrangement patterns--termed chromothripsis--that have recently been described in deranged cancer cells and it is concluded that a similar mechanism may also drive the formation of de novo structural variation in the germline.

TL;DR: It is shown that ZA has significant antitumor effects on CaP cells in vitro and in vivo, and antiosteolytic activity and the antitumors effects of this compound could benefit CaP patients with bone metastases.

TL;DR: It is shown that diabetic animals fed a cholesterol-rich diet, like humans, develop severe lesions of atherosclerosis characterized by SMC accumulation and proliferation, whereas lesions in nondiabetic animals contain fewer SMCs after 20 weeks, and diabetes markedly accelerates SMC proliferation and accumulation in atherosclerotic lesions.