240 research outputs found

    Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies

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    Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by incomplete penetrance and variable expressivity. Design: Clinical standardized assessment of 14 family members and a whole-exome sequencing (WES) of three affected subjects were performed. WES data analyses (sequence alignment, variant calling, annotation and prioritization) were carried out using an in-house implemented pipeline. Variant filtering retained coding and splice-site high quality private and rare variants. Variant prioritization was performed taking into account both the disruptive impact and the biological relevance of individual variants and genes. Sanger sequencing was performed to validate the variants of interest and to carry out segregation analysis. Results: Prioritization of variants “by function” allowed the identification of multiple variants contributing to the trait, including two concomitant heterozygous variants in EDARADD (c.308C>T, p.Ser103Phe) and COL5A1 (c.1588G>A, p.Gly530Ser), specifically associated with a more severe phenotype (i.e. canine agenesis). Differently, heterozygous variants in genes encoding proteins with a role in the WNT pathway were shared by subjects showing a phenotype of impacted/ectopic erupted canines. Conclusions: This study characterized the genetic contribution underlying a complex trait consisting of isolated canine anomalies in a medium-sized family, highlighting the role of WNT and EDA cell signaling pathways in tooth development

    Boletín NUESTRA AMÉRICA XXI - Desafíos y alternativas, num.15, enero 2018

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    Una excelente iniciativa del Grupo de Trabajo Crisis y economĂ­a mundial, coordinado por MarĂ­a Josefina Morales y Gabriela Roffinelli

    Livrable D4.2 of the PERSEE project : Représentation et codage 3D - Rapport intermédiaire - Définitions des softs et architecture

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    51Livrable D4.2 du projet ANR PERSEECe rapport a été réalisé dans le cadre du projet ANR PERSEE (n° ANR-09-BLAN-0170). Exactement il correspond au livrable D4.2 du projet. Son titre : Représentation et codage 3D - Rapport intermédiaire - Définitions des softs et architectur

    Dual random utility maximisation

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    Many prominent regularities of stochastic choice, such as the attraction, similarity and compromise effects, are incompatible with Random Utility Maximisation (RUM) as they violate Monotonicity. We argue that these regularities can be conveniently represented by a variation of RUM in which utility depends on only two states and state probabilities are allowed to depend on the menu. We call this model Dual Ran- dom Utility Maximisation (dRUM). dRUM is a parsimonious model that admits vio- lations of Monotonicity. We characterise dRUM in terms of three transparent expan- sion/contraction conditions. We also characterise the important special case in which state probabilities are constant across menus

    Livrable D5.2 of the PERSEE project : 2D/3D Codec architecture

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    Livrable D5.2 du projet ANR PERSEECe rapport a été réalisé dans le cadre du projet ANR PERSEE (n° ANR-09-BLAN-0170). Exactement il correspond au livrable D5.2 du projet. Son titre : 2D/3D Codec architectur

    3D coding tools final report

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    Livrable D4.3 du projet ANR PERSEECe rapport a été réalisé dans le cadre du projet ANR PERSEE (n° ANR-09-BLAN-0170). Exactement il correspond au livrable D4.3 du projet. Son titre : 3D coding tools final repor

    Oxidized Alginate Dopamine Conjugate: In Vitro Characterization for Nose‐to‐Brain Delivery Application

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    Background: The blood–brain barrier (BBB) bypass of dopamine (DA) is still a challenge for supplying it to the neurons of Substantia Nigra mainly affected by Parkinson disease. DA prodrugs have been studied to cross the BBB, overcoming the limitations of DA hydrophilicity. Therefore, the aim of this work is the synthesis and preliminary characterization of an oxidized alginate-dopamine (AlgOX-DA) conjugate conceived for DA nose-to-brain delivery. Methods: A Schiff base was designed to connect oxidized polymeric backbone to DA and both AlgOX and AlgOX-DA were characterized in terms of Raman, XPS, FT-IR, and 1H- NMR spectroscopies, as well as in vitro mucoadhesive and release tests. Results: Data demonstrated that AlgOX-DA was the most mucoadhesive material among the tested ones and it released the neurotransmitter in simulated nasal fluid and in low amounts in phosphate buffer saline. Results also demonstrated the capability of scanning near-field optical microscopy to study the structural and fluorescence properties of AlgOX, fluorescently labeled with fluorescein isothiocyanate microstructures. Interestingly, in SH-SY5Y neuroblastoma cell line up to 100 ÎŒg/mL, no toxic effect was derived from AlgOX and AlgOX-DA in 24 h. Conclusions: Overall, the in vitro performances of AlgOX and AlgOX-DA conjugates seem to encourage further ex vivo and in vivo studies in view of nose-to-brain administratio

    Competing for Attention: Is the Showiest Also the Best?

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    Financial support from ESRC grant RES-000-22-3474 is gratefully acknowledgedThere are many situations in which alternatives ranked by quality wish to be chosen and compete for the imperfect attention of a chooser by selecting their own salience. The chooser may be "tricked" into choosing more salient but inferior alternatives. We investigate when competitive forces ensure instead that (strictly) higher salience is diagnostic of (strictly) higher quality, and the most frequently chosen alternative is the best one. We prove that the structure of externalities in the technology of salience is key. Broadly speaking, positive externalities in salience favour correlation between quality and salience.PostprintPeer reviewe
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