195 research outputs found

    t(10;11)(p11.2;q23)

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    Review on t(10;11)(p11.2;q23), with data on clinics, and the genes involved

    Soft tissue tumors: Lipoblastoma

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    Review on Soft tissue tumors: Lipoblastoma, with data on clinics, and the genes involved

    MLLT10 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10)

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    Review on MLLT10 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10), with data on DNA, on the protein encoded, and where the gene is implicated

    PSIP1 (PC4 and SFRS1 interacting protein 1)

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    Review on PSIP1 (PC4 and SFRS1 interacting protein 1), with data on DNA, on the protein encoded, and where the gene is implicated

    Cazadores recolectores del Holoceno Medio y Superior de la cueva Haichol, región cordillerana central del Neuquén, República Argentina : Cronología 14C-AMS sobre colágeno óseo y su conversión a tiempo calendario. Signaturas isotópicas del carbono y del nitrógeno en el colágeno óseo, en función de trazadores paleodietéticos

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    Se presentan ocho fechados 14C-AMS sobre colágeno de huesos craneanos sin alteración diagenética, provenientes de la cueva de Haichol, Neuquén, que serán discutidos con el propósito de adquirir conocimientos más precisos relativos a cronología, paleodieta, entorno paleoambiental del sitio y de sus ocupantes prehistóricos. Un primer grupo de fechados remonta al temprano Holoceno m.edio, abarca el rango de edades 6570 - 5850 años cal. AP (2 s) e incluye morfotipos humanos de notable interés paleoantropológico, del tipo físico "Paleoamericano " o "Láguido " y otros con rasgos comparables al tipo exhumado en Cerro Sota (Chile). El segundo grupo abarca el rango de edades 4530 - 930 años cal. AP (2 s) y, en acordancia con su amplitud temporal, muestra un contenido paleoantropológico complejo. En cuanto a los constituyentes isotópicos del colágeno, que tampoco han sufrido alteración postmortem, reflejan en ambos grupos una dieta basada en recursos continentales, si bien en el segundo (Holoceno medio y superior) se manifiesta sutilmente, a través de los valores δ13 C, un leve incremento en la ingesta de proteína animal que podría indicar mayor énfasis en la caza de herbívoros (guanaco) respecto a la recolección de vegetales (piñones de Araucaria). Se considera probable que los valores enriquecidos en δ13 C comprobados por los análisis se deban a la menor capacidad del colágeno para la fijación de la signatura isotópica correspondiente a la ingesta de hidratos de carbono respecto a la de proteínas. Las concentraciones δ15 N, bajas en ambos grupos, presentan diferencias que apuntan a cambios ambientales o fisiológicos antes que a variaciones en la composición de la paleodieta.Eight 14C-AMS dates on human crania bones, not diagenetically altered are presented. They were found in the Haichol cave, Neuquén, Argentina. The results will be discussed in order, to improve the knowledge about the chronology and the palaeodiet of its prehistorical occupants and the palaeoenvironmental conditions of the site. A first group of dates matches the middle early Holocene with ages between 6570 - 5850 calibrated years BP (2σ), including human morphotypes of noticeable interest i.e. from the physic type "Paleoamerican", and others similar to that exhumed at the Cerro Sota, Chile. The second group comprises ages of4530 - 930 calibrated years BP (2σ) that in accordance with the time span, shows a complex palaeoanthropological content. The isotopic contents of collagen, that also do not evidence postmortem alteration, show for both groups a diet based on continental resources. The second group (middle and late Holocene) show a slightly increase in animal protein in its diet, as indicated by the higher δ13 C values. This may be the result of an increase in herbivore hunting (Lama guanicoe) in spite of the vegetable's gathering (Araucaria pinyon's). It is also probable that δ13 C enriched values are due to the fact that bone collagen record more poorly the isotopic signature corresponding to carbohydrate intake with respect to protein intake. δ15 N concentrations, low in both groups, show differences more easily due to environmental changes than to variations in the palaeodiet composition.Sociedad Argentina de Antropologí

    MLL-MLLT10 fusion in acute monoblastic leukemia: variant complex rearrangements and 11q proximal breakpoint heterogeneity

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    Cytogenetic studies of acute monoblastic leukemia cases presenting MLL-MLLT10 (alias MLL-AF10) fusion show a broad heterogeneity of chromosomal breakpoints. We present two new pediatric cases (French-American-British type M5) with MLL-MLLT10 fusion, which we studied with fluorescence in situ hybridization. In both we detected a paracentric inversion of the 11q region that translocated onto chromosome 10p12; one case displayed a variant complex pattern. We review the cytogenetic molecular data concerning the proximal inversion breakpoint of 11q and confirm its heterogeneit

    Chemostratigraphy of the Pliensbachian, Puesto Araya Formation (Neuquén Basin, Argentina)

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    In a preliminary attempt to establish an isotope stratigraphy, strontium, carbon and oxygen isotope ratios were determined from marine biogenic carbonates of Pliensbachian age, in the context of scheme of local ammonite Zones correlatable to the European Standard Zonation. Two sections, rio Atuel and arroyo Serrucho, of the mainly siliciclastic Puesto Araya Formation, Neuquen Basin, south-western Mendoza, Argentina, were studied. Specimens of the bivalve genera Weyla Bhom and Gryphaea Lamarck were selected for the isotopic determinations because of their low-Mg calcite original mineralogy and widespread presence. Scanning electron microscopy, X-ray diffraction and X-ray fluorescence spectrometry techniques were used to control the good degree of preservation of most of the biogenic material, as evidenced by pristine fabrics, 100% calcite composition and Sr, Mn and Fe concentrations. Although strontium isotope ratios are slightly scattered, it is possible to compare them with those of the Early Jurassic seawater reference curve. Carbon isotope signals show two relative maxima, correlatable with those recorded for the upper part of the Ibex Zone and the middle part of the Margaritatus Zone in various European sections, indicating the possible global significance of these events. δ18O values were found to be unreliable for isotope stratigraphy, as they are largely depleted in comparison to those of coeval unaltered marine carbonates

    Rapporto sull’attività 29 Giugno – 6 Luglio 2013

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    In questo lavoro viene descritta la campagna geofisica e idro-oceanografica ‘GARGANO2013’ effettuata grazie ad una collaborazione tra INGV e Marina Militare Italiana nell’ambito di un accordo di collaborazione denominato CONAGEM (Coordinamento Nazionale per la Geofisica Marina). Tale accordo, siglato nel 2005 fra i principali enti pubblici di ricerca che operano in mare, prevede infatti la possibilità di attuare congiuntamente campagne di ricerca marine condividendone dati e risultati. La campagna è stata organizzata con la finalità di raccogliere quanti più possibili elementi utili a caratterizzare l’area marina del Gargano sotto un profilo ambientale predisponendone un quadro di riferimento per successive attività di monitoraggio delle fenomenologie presenti nell’area di indagine. In quest’ottica, l’obiettivo prefissato era la mappatura di eventuali affioramenti di acque dolci in mare. Contestualmente, è stata eseguita la sperimentazione di prototipi strumentali per future applicazioni a bordo nave: in particolare, sono state eseguite misure di tipo accelerometrico al fine di caratterizzare le sollecitazioni dinamiche cui sono sottoposti gli strumenti a bordonave ottenendo così utili informazioni per lo sviluppo di nuove tecnologie quali piattaforme inerziali per uso scientifico e strumentazione per prospezioni gravimetriche da utilizzare su nave
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