Search results for "MOS"
showing 10 items of 10534 documents
Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.
2004
Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the pu…
ALTERAZIONI. Introduzione alle sociologie delle omosessualità
2012
Il volume mira ad arricchire la produzione editoriale e le riflessioni, assai limitate, sul tema delle omosessualità nel contesto italiano, presentando gli svariati temi e i percorsi nonché le diverse prospettive di ricerca di un campo semantico assai complesso definito sociologie delle omosessualità. Il testo attraverso il contributo di studiosi, di attivisti e di ricercatori di fama internazionale, per la prima volta tradotti in lingua italiana, pluralizza gli sguardi su un settore di ricerca (le omosessualità), trascurato dall'accademia e spesso appiattito su rappresentazioni monolitiche e stereotipate. Rivolto al pubblico vasto ed eterogeneo di studenti, studiosi, operatori sociali, ess…
Il sex work maschile (omosessuale): rappresentazioni, mondi sociali e analisi
2012
Il saggio prende in considerazione il sex working maschile omosessuale evidenziandone il carattere di fenomeno complesso, sottostimato e trascurato non solo dalla ricerca scientifica, ma anche dall’intervento e dalle politiche sociali. I mondi sociali che esso implica e gli stessi sex workers spesso sono stati stereotipati e confusi con una serie di altri fenomeni (tra cui l’abuso infantile; la pedofilia; la tratta e lo sfruttamento; la dipendenza e il consumo di droghe, ecc.) che, seppure possono esservi talvolta contigui, hanno allontanato il focus della ricerca dalle dimensioni e dalle caratteristiche che lo contraddistinguono. Un altro aspetto, non secondario, che ha fortemente ostacola…
New Gynandromorph Records for Chirocephalus diaphanus (Branchiopoda, Anostraca, Chirocephalidae)
2021
We report and describe new Chirocephalus diaphanus Prévost, 1803 gynandromorphs from Tunisia and review the literature of anostracan gynandromorphy and other, possibly associated, somatic aberrations, with comments on their evolutionary significance. Our material has three specimens that are specifically deformed on the left side of the head.
Deep-learning based reconstruction of the shower maximum X max using the water-Cherenkov detectors of the Pierre Auger Observatory
2021
The atmospheric depth of the air shower maximum $X_{\mathrm{max}}$ is an observable commonly used for the determination of the nuclear mass composition of ultra-high energy cosmic rays. Direct measurements of $X_{\mathrm{max}}$ are performed using observations of the longitudinal shower development with fluorescence telescopes. At the same time, several methods have been proposed for an indirect estimation of $X_{\mathrm{max}}$ from the characteristics of the shower particles registered with surface detector arrays. In this paper, we present a deep neural network (DNN) for the estimation of $X_{\mathrm{max}}$. The reconstruction relies on the signals induced by shower particles in the groun…
Emulation of Sun-Induced Fluorescence from Radiance Data Recorded by the HyPlant Airborne Imaging Spectrometer
2021
The retrieval of sun-induced fluorescence (SIF) from hyperspectral radiance data grew to maturity with research activities around the FLuorescence EXplorer satellite mission FLEX, yet full-spectrum estimation methods such as the spectral fitting method (SFM) are computationally expensive. To bypass this computational load, this work aims to approximate the SFM-based SIF retrieval by means of statistical learning, i.e., emulation. While emulators emerged as fast surrogate models of simulators, the accuracy-speedup trade-offs are still to be analyzed when the emulation concept is applied to experimental data. We evaluated the possibility of approximating the SFM-like SIF output directly based…
Fibre fragment distribution in a single-fibre composite tension test
2001
Abstract Single fibre fragmentation tests are performed for brittle fibres with Weibull strength distribution and different surface treatments. The fragmentation process is modelled and closed-form expressions for break spacing distribution are obtained. The model accounts for the effect of finite fibre length on the initial fragmentation as well as for break interaction on the advanced fragmentation stage. It is assumed that the exclusion zone due to fibre–matrix interface failure and stress recovery in the fibre is linearly dependent on the applied load. This assumption is validated experimentally. The derived theoretical average fragment length dependence on applied load is used to deter…
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry
2009
We conducted meta-analyses of genome-wide association studies (GWAS) for atrial fibrillation (AF) in participants from five community-based cohorts. Meta-analyses of 896 prevalent (15,768 referents) and 2,517 incident (21,337 referents) AF cases identified a novel locus for AF (ZFHX3, rs2106261, risk ratio [RR]=1.19; P=2.3×10−7), an association that was replicated in the German AF Network (odds ratio=1.44; P=1.6×10−11). Combining the discovery and replication results, rs2106261 was significantly associated with AF (RR=1.25; P=1.8×10−15).
Fermentējamo cukuru iegūšana no lignocelulozes atkritumiem biodegvielas ražošanai
2016
Bakalaura darba mērķis ir izpētīt pirmapstrādes efektivitāti un tās nepieciešamību pirms biomasas enzimātikskās hidrolīzes. Mērķa sasniegšanai tika izvirzīti uzdevumi: veikt enzimātisko hidrolīzi uz substrātu kas tika a) pirmapstrādāts tikai mehāniski, un b) kas tika pirmapstrādāts mehāniski un ar skābi. Rezultāti tiek novērtēti pēc izdalīto cukuru daudzuma. Iegūtie rezultāti parāda, ka efektīvai fermentējamo cukuru iegūšanai no biomasas papildus hidrolīzei jāveic pirmapstrādi. No 1 g siena bija iespējams iegūt 0.46 g/g (115% no literatūras minēta teorētiskā maksimuma) glikozes un 0.38 g/g (81% no literatūras minēta teorētiskā maksimuma) no 1 g salmu substrāta. Fermentējot iegūtos cukurus, …
Distribución de la humedad del suelo mediante observaciones del satétite SMOS, modelización con SURFEX y medidas in situ sobre la Valencia Anchor Sta…
2017
La humedad del suelo es una variable importante en agricultura, hidrología, meteorología y disciplinas afines. A pesar de su importancia, es complicado obtener una representación adecuada de esta variable, principalmente por su alta variabilidad temporal y espacial. Las observaciones in situ son escasas, pero los modelos SVAT (Soil-Vegetation-Atmosphere-Transfer) pueden utilizarse para simular el comportamiento temporal y la distribución espacial de la humedad del suelo en un área determinada. El objetivo principal de esta tesis es generar campos de humedad del suelo que permitan la espacialización de las medidas puntuales de las estaciones de la Valencia Anchor Station y para ello se utili…