Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome refers to the congenital absence or severe hypoplasia of the female genital tract, often described as uterovaginal aplasia which is the prime feature of the syndrome. It is the second cause of primary amenorrhea after gonadal dysgenesis and occurs in ~1 in 4500 women. Aetiology of this syndrome remains poorly understood. Frequent association of other malformations with the MRKH syndrome, involving kidneys, skeleton and ears, suggests the involvement of major developmental genes such as those of the HOX family. Indeed mammalian HOX genes are well known for their crucial role during embryogenesis, particularly in axial skeleton, hindbrain and limb development. More recently, their involvement in organogenesis has been demonstrated notably during urogenital differentiation. Although null mutations of HOX genes in animal models do not lead to MRKH-like phenotypes, dominant mutations in their coding sequences or aberrant expression due to mutated regulatory regions could well account for it. Sequence analysis of coding regions of HOX candidate genes and of PBX1, a likely HOX cofactor during Müllerian duct differentiation and kidney morphogenesis, did not reveal any mutation in patients showing various forms of MRKH syndrome. This tends to show that HOX genes are not involved in MRKH syndrome. However it does not exclude that other mechanisms leading to HOX dysfunction may account for the syndrome

Pegasus Project Technical Report

This paper is a theoretical study about the implementation of a Global Navigation Satellite System around the Moon. The objective of the study is to investigate from the feasibility to the implementation of such a system within the framework of a broader project which aims to see humans activities back on the Moon in the next decade. In that order, the system is complying with technical specifications as defined by a client. The rationale behind the system is that to reach a satisfying level of performance - and therefore meet the client’s requirements - a constellation of twenty-one satellites spread out on three orbits around the Moon at a constant semi-major axis of 10,000 [km] is needed. The constellation is named after the Greek divinity Pegasus and in reference to the star constellation. Each orbit is set at an 80 [◦] inclination and respectively spaced at 120 [◦] from one another with regard to their Right Ascension of Ascending Node. There are seven satellites per orbit. Every Pegasus’s satellites carry on-board four atomic clocks, three Emergency Broadcast System antennas, two Tracking, Telecommand and Control antennas and one navigation antenna. Maneuvers for station-keeping and end-of-life are ensured by four 1500 [W] hall effect thrusters mounted on two robotic arms with six degrees of freedom. 150 [kg] of Xenon will be used as propellant so that the mission can be carried out for at least ten years. A Pegasus satellite has a dry mass of 711.04 [kg] and a wet mass of 860.64 [kg]. Regarding the service provided on the lunar surface and its low orbit, the Pegasus constellation guarantees a 100% GNSS and Emergency broadcast availability with a 6.80 [m] global precision at 3σ and a 33 [ns] time precision. All the subsystems are powered by a 50 [V] Power Conditioning Unit and 165 [Wh/kg] Li-on battery which will be recharged by 15 [m2] of solar panels and used during eclipses. The overall dimensions of one Pegasus spacecraft are 2.34 [m] × 1.480[m] × 1.284[m]. One full orbital plane of the constellation can be launched by one Ariane 64, which guarantees its implementation with only three launches, fulfilling a deployment time span inferior to a year

Gifted and talented education: The English policy highway at a crossroads?

Copyright © 2013 by Sage Publications. This is the author's accepted manuscript. The final published article is available from the link below.In 1999, the British government launched an education program for gifted and talented pupils as part of its Excellence in Cities initiative (EiC) that was initially designed to raise the educational achievement of very able pupils in state-maintained secondary schools in inner-city areas. Although some activities targeting gifted children had already been initiated by various voluntary organizations over several previous decades, this was the first time that the topic of improved provision for these pupils had been placed firmly within the national agenda. This article provides the background to the English gifted and talented policy “highway” and an overview of what was expected of schools. How practitioners responded to the policy, their beliefs and attitudes toward identifying gifted and talented pupils, and the opportunities and challenges that arose along the way to the current crossroads are explored. The need to empower teachers to feel more confident in classroom provisions for gifted and talented pupils is identified along with the potentially pivotal role of action research and “pupil voice” in the process of continued professional development and support

Comprehensive prediction of novel microRNA targets in Arabidopsis thaliana

MicroRNAs (miRNAs) are 20–24 nt long endogenous non-coding RNAs that act as post-transcriptional regulators in metazoa and plants. Plant miRNA targets typically contain a single sequence motif with near-perfect complementarity to the miRNA. Here, we extended and applied the program RNAhybrid to identify novel miRNA targets in the complete annotated Arabidopsis thaliana transcriptome. RNAhybrid predicts the energetically most favorable miRNA:mRNA hybrids that are consistent with user-defined structural constraints. These were: (i) perfect base pairing of the duplex from nucleotide 8 to 12 counting from the 5′-end of the miRNA; (ii) loops with a maximum length of one nucleotide in either strand; (iii) bulges with no more than one nucleotide in size; and (iv) unpaired end overhangs not longer than two nucleotides. G:U base pairs are not treated as mismatches, but contribute less favorable to the overall free energy. The resulting hybrids were filtered according to their minimum free energy, resulting in an overall prediction of more than 600 novel miRNA targets. The specificity and signal-to-noise ratio of the prediction was assessed with either randomized miRNAs or randomized target sequences as negative controls. Our results are in line with recent observations that the majority of miRNA targets are not transcription factors

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males, the term GRES syndrome (Genital, Renal, Ear, Skeletal) might be more appropriate when applied to both sexes. The MRKH syndrome, when described in familial aggregates, seems to be transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal deletion. Until recently progress in understanding the genetics of MRKH syndrome has been slow, however, now HOX genes have been shown to play key roles in body patterning and organogenesis, and in particular during genital tract development. Expression and/or function defects of one or several HOX genes may account for this syndrome

Prise en charge de la vestibulite vulvaire par injection locale de toxine botulinique (à propos d'un cas)

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Evaluation pré et post-opératoire des cures chirurgicales des prolapsus génito-urinaires par l'IRM dynamique

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Endométriose et infertilité (étude de la réserve ovarienne et de la qualité ovocytaire)

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Lanthanide complexes as redox and ROS/RNS probes: A new paradigm that makes use of redox-reactive and redox non-innocent ligands

International audienc

Surface-Properties Characterization of Suspended Matter in the Ebro Delta (spain) - with an Application to Trace-Metal Sorption

International audienc