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X-linked thrombocytopenia (THC1/XLT)
Full text linkX-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene
B-cell acute lymphoblastic leukemia with t(2;9)(p11;p13) involving the immunoglobulin kappa locus (IGK) and PAX-5
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PYGO2 (pygopus family PHD finger 2)
Full text linkPYGO2 is member of a conserved family of plant homeo domain (PHD)-containing proteins and takes part in a wide range of developmental and transcriptional processes. The most relevant role played by PYGO2 is in Wnt signaling pathway, where it is required for β-catenin/TCF-dependent transcription, even if it has showed to have a crucial role also in absence of β-catenin in tissues such as eye and testis. PYGO2 is also known as a chromatin effector because of its implication in chromatin remodelling processes through regulation of histones methylation
t(6;10)(q22;q24) NFKB2/ROS1
Full text linkReview on t(6;10)(q22;q24), with data on the genes involved
Première occurrence du Vetulicolia problématique Skeemella clavula dans la Formation cambrienne de Marjum Formation d'Utah, É.U.A.
No full textThe Cambrian Marjum Formation of western Utah (USA) preserves a diverse soft-bodied fauna from the upper Drumian that is slightly younger than the well-known Burgess Shale. While the Marjum is dominated by arthropods, animals belonging to a variety of phyla have been found. Here, we document the second occurrence of the rare, enigmatic taxon Skeemella clavula, which was previously thought to be restricted to the Pierson Cove Formation of the Drum Mountains. The occurrence in the Marjum represents a new preservational setting, as well as a slightly younger deposit. The new specimens also expand the number of known specimens to three. In addition, they improve understanding of the morphology of this representative of the problematic phylum Vetulicolia.Dans l'ouest de l'Utah (É.U.A.), la Formation cambrienne de Marjum préserve une faune diversifiée d'animaux à corps mou dans le Drumien supérieur, une faune légèrement plus jeune que celle des fameux Schistes de Burgess. Alors que la Formation de Marjum est dominée par les arthropodes, des animaux appartenant à différents phylums ont également été découverts. Nous illustrons ici la seconde occurrence de Skeemella clavula, un rare et énigmatique taxon dont on pensait précédemment qu'il n'était présent que dans la Formation de Pierson Cove des Montagnes de Drum (N Utah). Leur présence dans la Formation de Marjum représente un nouveau milieu de conservation, ainsi qu'un dépôt légèrement plus jeune. Les nouveaux spécimens portent à trois le nombre de spécimens connus. Enfin, ces spécimens contribuent à une meilleure compréhension de la morphologie de ce représentant du phylum problématique des Vetulicolia