نتایج جستجو برای: mowat syndrome

تعداد نتایج: 621961  

Journal: :Neuron 2015
Swathi Srivatsa Srinivas Parthasarathy Zoltán Molnár Victor Tarabykin

Sip1 is an important transcription factor that regulates several aspects of CNS development. Mutations in the human SIP1 gene have been implicated in Mowat-Wilson syndrome (MWS), characterized by severe mental retardation and agenesis of the corpus callosum. In this study we have shown that Sip1 is essential for the formation of intracortical, intercortical, and cortico-subcortical connections ...

Journal: :Developmental dynamics : an official publication of the American Association of Anatomists 2008
Jean-Marie Delalande Meaghann E Guyote Chelsey M Smith Iain T Shepherd

Smad-interacting protein-1 (SIP1) has been implicated in the development of Mowat-Wilson syndrome whose patients exhibit Hirschsprung disease, an aganglionosis of the large intestine, as well as other phenotypes. We have identified and cloned two sip1 orthologues in zebrafish. Both sip1 orthologues are expressed maternally and have dynamic zygotic expression patterns that are temporally and spa...

Journal: :Revista chilena de pediatría 2012

2009
Michael C. Frank Noah D. Goodman Peter Lai Joshua B. Tenenbaum

Language does not directly code facts about the world. Instead, speakers and listeners rely on shared assumptions to allow them to communicate more efficiently. Writers like Grice and Sperber & Wilson have proposed that communication is assumed to be “informative” or “relevant,” but the predictions of these accounts are often informal or post-hoc. Here we propose a formal analogue to these acco...

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