Search results for "sequence"

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…

Profiles of early career insecurity and its outcomes in adolescence : A four‐wave longitudinal study

2023

This study investigated the developmental profiles of perceived early career insecurity (ECI) and their outcomes among adolescents (n = 1416) during a critical educational transition from basic education to upper secondary education. We found three distinct latent profiles with varying amounts of ECI: Profile 1: Moderate and decreasing ECI before the transition (57%); Profile 2: Low-decreasing ECI before the transition but increasing ECI after the transition (31%); and Profile 3: High and stable ECI during the transition (12%). Moreover, the ECI profiles related to school and life satisfaction as well as to school stress and dropout intentions in a meaningful way consistent with the stresso…

Maturation of Epidermal Langerhans Cells In Vitro Is Accompanied by Downregulation of 4F2 (CD98) as Determined by Differential Display

1998

Following short-term culture, Langerhans cells mature morphologically and functionally into potent immunostimulatory cells. As regulation of gene expression accompanies this maturation process, it is likely that differentially expressed genes are involved in the maturation events. Using the recently described method of differential display, we generated cDNA expression patterns starting with mRNA of murine epidermal Langerhans cells isolated either directly (fLC) or following 3 d cultivation (cLC). Five hundred putative differentially expressed cDNA fragments were recovered from the gel. For a part of the fragments differential expression was confirmed by dot blot and Southern hybridization…

Advanced performance monitoring for self-healing cellular mobile networks

2015

This dissertation is devoted to development and validation of advanced per- formance monitoring system for existing and future cellular mobile networks. Knowledge mining techniques are employed for analysis of user specific logs, collected with Minimization of Drive Tests (MDT) functionality. Ever increas- ing quality requirements, expansion of the mobile networks and their extend- ing heterogeneity, call for effective automatic means of performance monitoring. Nowadays, network operation is mostly controlled manually through aggregated key performance indicators and statistical profiles. These methods are are not able to fully address the dynamism and complexity of modern mobile networks. Se…

Synthesis and Biological Evaluation of a Multiantigenic Tn/TF-Containing Glycopeptide Mimic of the Tumor-Related MUC1 Glycoprotein

2006

ANCESTRALITY OR MORPHOLOGICAL CONVERGENCE IN THE MOLLISSIMA AND ITALICA GROUPS OF SILENE IN THE WESTERN MEDITERRANEAN BASIN

2010

The XMM-Newton Extended Survey of the Taurus Molecular Cloud (XEST)

2007

(abridged:) The XMM-Newton Extended Survey of the Taurus Molecular Cloud (XEST) surveys the most populated ~5 square degrees of the Taurus star formation region, using the XMM-Newton X-ray observatory to study the thermal structure, variability, and long-term evolution of hot plasma, to investigate the magnetic dynamo, and to search for new potential members of the association. Many targets are also studied in the optical, and high-resolution X-ray grating spectroscopy has been obtained for selected bright sources. The X-ray spectra have been coherently analyzed with two different thermal models (2-component thermal model, and a continuous emission measure distribution model). We present ov…

Spectral properties of X-ray bright variable sources in the Taurus Molecular Cloud

2006

We analyze 19 bright variable X-ray sources detected in the XMM-Newton Extended Survey of the Taurus Molecular Cloud (XEST), in order to characterize the variations with time of their coronal properties and to derive informations on the X-ray emitting structures. We performed time-resolved spectroscopy of the EPIC PN and MOS spectra of the XEST sources, using a model with one or two thermal components, and we used the time evolution of the temperatures and emission measures during the decay phase of flares to derive the size of the flaring loops. The light curves of the selected sources show different types of variability: flares, long-lasting decay or rise through the whole observation, sl…

Stochastic gravito-inertial modes discovered by CoRoT in the hot Be star HD 51452

2012

International audience; Context. Be stars are rapidly rotating stars with a circumstellar decretion disk. They usually undergo pressure and/or gravity pulsation modes excited by the κ-mechanism, i.e. an effect of the opacity of iron-peak elements in the envelope of the star. In the Milky Way, p-modes are observed in stars that are hotter than or equal to the B3 spectral type, while g-modes are observed at the B2 spectral type and cooler. Aims. We observed a B0IVe star, HD 51452, with the high-precision, high-cadence photometric CoRoT satellite and high-resolution, ground-based HARPS and SOPHIE spectrographs to study its pulsations in great detail. We also used the lower resolution spectra a…

High Energy Emission and its Variability in Young Stellar Objects

2019

Young stars show a variety of highly energetic phenomena, from accretion and outflow processes to hot coronal plasmas confined in their outer atmosphere, all regulated by the intense stellar magnetic fields. Many aspects on each of these phenomena are debated, but, most notably, their complex mutual interaction remains obscure. In this work I report how these phenomena are simultaneously responsible for the high-energy emission from young stars, with a special focus on the expected and observed variability in the X-ray band. Investigating variations in the X-ray emission from young stars allows us to pose constraints on flare and coronal plasma properties, coronal heating, accretion stream …