Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.     

Wnt1 and BMP2: two factors recruiting multipotent neural crest progenitors isolated from adult bone marrow

Recent studies have shown that neural crest-derived progenitor cells can be found in diverse mammalian tissues including tissues that were not previously shown to contain neural crest derivatives, such as bone marrow. The identification of those "new" neural crest-derived progenitor cells opens new strategies for developing autologous cell replacement therapies in regenerative medicine. However, their potential use is still a challenge as only few neural crest-derived progenitor cells were found in those new accessible locations. In this study, we developed a protocol, based on wnt1 and BMP2 effects, to enrich neural crest-derived cells from adult bone marrow. Those two factors are known to maintain and stimulate the proliferation of embryonic neural crest stem cells, however, their effects have never been characterized on neural crest cells isolated from adult tissues. Using multiple strategies from microarray to 2D-DIGE proteomic analyses, we characterized those recruited neural crest-derived cells, defining their identity and their differentiating abilities.     

The Eclipse,the Astronomer and his Audience: Frederico Oom and the Total Solar Eclipse of 28 May 1900 in Portugal

This study offers a detailed analysis of an episode of the popularization of astronomy which took place in Portugal, a peripheral country of Europe, and occurring in the early twentieth century. The episode was driven by the 28 May 1900 total solar eclipse which was seen on the Iberian Peninsula (Portugal and Spain). Instead of focusing on one of the ends of the popularization process, we analyze the circulation of knowledge among scientists and the public, contrast the aims of the various expeditions, professional and amateur, which took place on Portuguese soil, analyze their repercussions in the Portuguese astronomical landscape, and the different ways used by the Portuguese political elite and astronomical community to successfully appropriate this astronomical event to serve their varied agendas, political, social and scientific. In this episode of public enthusiasm for science, a central figure emerged in the network of the official commission, professional and amateur communities and the ‘general public’: Frederico Tomás Oom (1864–1930), an astronomer of the Lisbon Astronomical Observatory. This paper aims to illustrate the different layers of the circulation process, and at proving that the popularization of science was not a unidirectional process from scientists to lay people nor did it serve only a particular agenda, be it political, social or scientific.     

Ionic mechanisms underlying the depolarization of L-glutamate on rat and human spinal neurones in tissue culture

Zusammenfassung Die Wirkung von Glutamat wurde auf das Membranpotential von Rückenmarkneuronen des Menschen und der Ratte in Gewebekultur untersucht. Entfernung der Natriumionen aus der extrazellulären Flüssigkeit führt zu einem Verschwinden der durch Glutamat erzeugten Depolarisation. Diese Befunde weisen darauf hin, dass Glutamat, welches eine vermutliche Überträgersubstanz im Rückenmarkist, die Permeabilität der Neuronenmembran für Natriumionen erhöht. Die Versuche zeigen ferner, dass die Gewebekultur ein ausgezeichnetes Modell ist zur Abklärung von ionalen Mechanismen, welche der Wirkung von Überträgersubstanzen im Zentralnervensystem zugrunde liegen.