Éditeur(s) : HAL CCSD
Résumé : International audience
Background Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. Methods We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. Results We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. Conclusions We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. Trial registration numbers NCT01746121 and NCT02397824
Journal of Medical Genetics

hal-01272929
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01272929
DOI : 10.1136/jmedgenet-2015-103302
PUBMED : 26502894

Éditeur(s) : HAL CCSD Landes Bioscience
Résumé : International audience
In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
Autophagy

hal-00735751
https://hal.archives-ouvertes.fr/hal-00735751
PUBMED : 22966490

Éditeur(s) : HAL CCSD AGU and the Geochemical Society
Résumé : International audience
The Ganos fault is the westernmost segment of the North Anatolian Fault that experienced the Mw = 7.4 earthquake of 9 August 1912. The earthquake revealed 45-km-long of surface ruptures inland, trending N70 E, and 5.5 m of maximum right lateral offset near Güzelköy. The long-term deformation of the fault is clearly expressed by several pull-apart basins and sag ponds, pressure and shutter ridges and offset streams. In parallel with detailed geomorphologic investigations, we measured co-seismic and cumulative displacements along the fault, and selected the Güzelköy site for paleoseismology. A microtopographic survey at the site yields 10.5 0.5 m and 35.4 1.5 m cumulative lateral offsets of stream channels and geomorphologic features. Seven paleoseismic parallel and cross-fault trenches document successive faulting events and provide the timing of past earthquakes on the Ganos fault segment. Radiocarbon dating of successive colluvial wedges in trench T1, and the fresh scarplet above (probably 1912 surface rupture) indicate the occurrence of three faulting events since the 14th century. Parallel trenches (3, 5, 6 and 7) expose paleo-channels and show a cumulative right-lateral offset of 16.5 1.5 m next to the fault, and 21.3 1.5 m total channel deflection. Radiocarbon dating of past channel units and fault scarp-related colluvial deposits imply an average 17 +/ 5 mm/year slip rate and 323 142 years recurrence interval of large earthquakes during the last 1000 years on the Ganos fault. The succession of past faulting events and inferred slip rate west of the Marmara Sea provide more constraint on the long-term faulting behavior in the seismic gap of the North Anatolian Fault and may contribute to a better seismic hazard assessment in the Istanbul region.
ISSN: 1525-2027

hal-00748218
https://hal.archives-ouvertes.fr/hal-00748218
DOI : 10.1029/2011GC003960

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Aims: The aims of this study were to compare short-and long-term outcomes for clinical T2N0 oesophageal cancer with analysis of (i) primary surgery (S) versus neoadjuvant therapy plus surgery (NS), (ii) squamous cell carcinoma and adenocarcinoma subsets; and (iii) neoadjuvant chemoradiotherapy versus neoadjuvant chemotherapy.Methods: Data were collected from 30 European centres from 2000 to 2010. Among 2944 included patients, 355 patients (12.1%) had cT2N0 disease; 285 (S) and 70 (NS), were compared in terms of short-and long-term outcomes. Propensity score matching analyses were used to compensate for differences in baseline characteristics.Results: No significant differences between the groups were shown in terms of in hospital morbidity and mortality. Nodal disease was observed in 50% of S-group at the time of surgery, with 20% pN2/N3. Utilisation of neoadjuvant therapy was associated with significant tumour downstaging as reflected by increases in pT0, pN0 and pTNM stage 0 disease, this effect was further enhanced with neoadjuvant chemoradiotherapy. After adjustment on propensity score and confounding factors, for all patients and subset analysis of squamous cell and adenocarcinoma, neoadjuvant therapy had no significant effect upon survival or recurrence (overall, loco-regional, distant or mixed) compared to surgery alone. There were no significant differences between neoadjuvant chemotherapy and chemoradiotherapy in short-or long-term outcomes.Conclusion: The results of this study suggest that a surgery alone treatment approach should be recommended as the primary treatment approach for cT2N0 oesophageal cancer despite 50% of patients having nodal disease at the time of surgery.
ISSN: 0959-8049

hal-01666517
https://hal.univ-lorraine.fr/hal-01666517
DOI : 10.1016/j.ejca.2015.11.024

Éditeur(s) : HAL CCSD Springer
Résumé : International audience
We present here a synthesis of the evolution of rifted continental margin systems in the Gulf of Aden. These margins are volcanic to the west of the Gulf of Aden, where they are influenced by the Afar hotspot, and non-volcanic east of longitude 46° E. The combined use of magnetics, gravity, seismic reflection, field observations (tectonic, stratigraphic and sedimentological) and oil well data allowed us to obtain better constraints on the timing of continental rifting and seafloor spreading. From the Permo-Triassic to the Oligocene, the Arabian-African plate was subject to distributed extension, probably due, at least from the Cretaceous, to tensile stresses related to the subduction of the Tethysian slab in the north. In Late Eocene-Early Oligocene, 34-33 Ma ago, rifting started to localise along the future area of continental breakup. Initially guided by the inherited basins, continental rifting then occurred synchronously over the entire gulf before becoming localised on the northern and southern borders of the inherited grabens, in the direction of the Afar hotspot. In the areas with non-volcanic margins (in the east), the faults marking the end of rifting trend parallel to the inherited grabens. Only the transfer faults cross-cut the inherited grabens, and some of these faults later developed into transform faults. The most important of these transform faults follow a Precambrian trend. Volcanic margins were formed in the west of the Gulf, up to the Guban graben in the southeast and as far as the southern boundary of the Bahlaf graben in the northeast. Seaward dipping reflectors can be observed on many oil industry seismic profiles. The influence of the hotspot during rifting was concentrated on the western part of the gulf. Therefore, it seems that the western domain was uplifted and eroded at the onset of rifting, while the eastern domain was characterised by more continuous sedimentation. The phase of distributed deformation was followed by a phase of strain localisation during the final rifting stage, just before formation of the Ocean-Continent Transition (OCT), in the most distal graben (DIM graben). About 20 Ma ago, at the time of the continental break-up, the emplacement of the OCT started in the east with exhumation of the subcontinental mantle. Farther west, the system was heated up by the strong influence of the Afar hotspot, which led to breakup with much less extension. In the Gulf of Aden (s.str), up to the Shukra El Sheik fracture zone, oceanic spreading started 17.6 Ma ago. West of this fracture zone, oceanic accretion started 10 Ma ago, and 2 Ma ago in the Gulf of Tadjoura. Post-rift deformation of the eastern margins of the Gulf of Aden can be seen in the distal and proximal domains. Indeed, the substantial post-rift uplift of these margins could be associated with either the continental break-up, or activity of the Afar hotspot and related volcanic/magmatic activity. Uplift of the northern proximal margin was still active (e.g. stepped beach rocks exposed at 60 m of 2 Ma; 30 m of 35,200 years; 10 and 2 m) and active volcanoes can be inferred at depths of between 70 and 200 km beneath the margin (at 5-10 km distance from the coast). On the distal margin, heat flow measurements show a high value that is associated with post-rift volcanic activity and the development of a volcano (with flows and sills) shortly after the formation of the OCT. The Afar hotspot is therefore important for several reasons. It allows the localisation of deformation along the Red Sea/Aden system and the rapid opening of the Gulf after the continental break-up; its influence also seems to persist during the post-rift period.
ISSN: 1866-7411

hal-01053089
https://hal.archives-ouvertes.fr/hal-01053089
DOI : 10.1007/s12517-011-0475-4

Éditeur(s) : HAL CCSD American Geophysical Union (AGU)
Résumé : International audience
Observations from deep boreholes at several locations worldwide, laboratory measurements of frictional strength on quartzo-feldspathic materials, and earthquake focal mechanisms indicate that crustal faults are strong (apparent friction μ ≥ 0.6). However, friction experiments on phyllosilicate-rich rocks and some geophysical data have demonstrated that some major faults are considerably weaker. This weakness is commonly considered to be characteristic of mature faults in which rocks are altered by prolonged deformation and fluid-rock interaction (i.e., San Andreas, Zuccale, and Nankai Faults). In contrast, in this study we document fault weakening occurring along a marly shear zone in its infancy (<30 m displacement). Geochemical mass balance calculation and microstructural data show that a massive calcite departure (up to 50 vol %) from the fault rocks facilitated the concentration and reorganization of weak phyllosilicate minerals along the shear surfaces. Friction experiments carried out on intact foliated samples of host marls and fault rocks demonstrated that this structural reorganization lead to a significant fault weakening and that the incipient structure has strength and slip behavior comparable to that of the major weak faults previously documented. These results indicate that some faults, especially those nucleating in lithologies rich of both clays and high-solubility minerals (such as calcite), might experience rapid mineralogical and structural alteration and become weak even in the early stages of their activity.
ISSN: 0278-7407

hal-01211481
https://hal.archives-ouvertes.fr/hal-01211481
DOI : 10.1002/2014TC003716

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
The 12 May 2008 the Sichuan earthquake was one of the worst natural disasters in China. Here, we present a detailed picture of the epicentral area inferred geophysical data. Based on the analysis of teleseismic data acquired by a dense seismic network, we highlight an abrupt 20 km Moho offset between the Sichuan Basin and the Tibetan plateau and a horizontal discontinuity at similar to 15 km depth, which may connect with the ruptured zone of the 2008 event. We obtain low mean crustal velocity ratios, which suggest the absence of a thick and extensive zone of partial melt within the crust beneath the eastern part of the Songpan-Garze Terrane. All our data support the idea that the Longmen Shan range mark a zone of active strain localization due to the rigid Yangtze craton resisting eastward displacement of the Tibetan Plateau.
ISSN: 0040-1951

hal-00534471
https://hal.archives-ouvertes.fr/hal-00534471
DOI : 10.1016/j.tecto.2009.11.010

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
BACKGROUND: Thrombophilias are common disorders that increase the risk of pregnancy-associated venous thromboembolism and pregnancy loss and can also increase the risk of placenta-mediated pregnancy complications (severe pre-eclampsia, small-for-gestational-age infants, and placental abruption). We postulated that antepartum dalteparin would reduce these complications in pregnant women with thrombophilia. METHODS: In this open-label randomised trial undertaken in 36 tertiary care centres in five countries, we enrolled consenting pregnant women with thrombophilia at increased risk of venous thromboembolism or with previous placenta-mediated pregnancy complications. Eligible participants were randomly allocated in a 1:1 ratio to either antepartum prophylactic dose dalteparin (5000 international units once daily up to 20 weeks' gestation, and twice daily thereafter until at least 37 weeks' gestation) or to no antepartum dalteparin (control group). Randomisation was done by a web-based randomisation system, and was stratified by country and gestational age at randomisation day with a permuted block design (block sizes 4 and 8). At randomisation, site pharmacists (or delegates) received a randomisation number and treatment allocation (by fax and/or e-mail) from the central web randomisation system and then dispensed study drug to the local coordinator. Patients and study personnel were not masked to treatment assignment, but the outcome adjudicators were masked. The primary composite outcome was independently adjudicated severe or early-onset pre-eclampsia, small-for-gestational-age infant (birthweight <10th percentile), pregnancy loss, or venous thromboembolism. We did intention-to-treat and on-treatment analyses. This trial is registered with ClinicalTrials.gov, number NCT00967382, and with Current Controlled Trials, number ISRCTN87441504. FINDINGS: Between Feb 28, 2000, and Sept 14, 2012, 292 women consented to participate and were randomly assigned to the two groups. Three women were excluded after randomisation because of ineligibility (two in the antepartum dalteparin group and one in the control group), leaving 146 women assigned to antepartum dalteparin and 143 assigned to no antepartum dalteparin. Some patients crossed over to the other group during treatment, and therefore for on-treatment and safety analysis there were 143 patients in the dalteparin group and 141 in the no dalteparin group. Dalteparin did not reduce the incidence of the primary composite outcome in both intention-to-treat analysis (dalteparin 25/146 [17.1%; 95% CI 11.4-24.2%] vs no dalteparin 27/143 [18.9%; 95% CI 12.8-26.3%]; risk difference -1.8% [95% CI -10.6% to 7.1%)) and on-treatment analysis (dalteparin 28/143 [19.6%] vs no dalteparin 24/141 [17.0%]; risk difference +2.6% [95% CI -6.4 to 11.6%]). In safety analysis, the occurrence of major bleeding did not differ between the two groups. However, minor bleeding was more common in the dalteparin group (28/143 [19.6%]) than in the no dalteparin group (13/141 [9.2%]; risk difference 10.4%, 95% CI 2.3-18.4; p=0.01). INTERPRETATION: Antepartum prophylactic dalteparin does not reduce the occurrence of venous thromboembolism, pregnancy loss, or placenta-mediated pregnancy complications in pregnant women with thrombophilia at high risk of these complications and is associated with an increased risk of minor bleeding. FUNDING: Canadian Institutes of Health Research, Heart and Stroke Foundation of Canada, and Pharmacia and UpJohn.
ISSN: 0923-7577

hal-01258557
http://hal.univ-brest.fr/hal-01258557
DOI : 10.1016/S0140-6736(14)60793-5
PUBMED : 25066248

Éditeur(s) : HAL CCSD Wiley-VCH Verlag
Résumé : International audience
Deciphering the assembly history of the Milky Way is a formidable task, which becomes possible only if one can produce high-resolution chrono-chemo-kinematical maps of the Galaxy. Data from large-scale astrometric and spectroscopic surveys will soon provide us with a well-defined view of the current chemo-kinematical structure of the Milky Way, but will only enable a blurred view on the temporal sequence that led to the present-day Galaxy. As demonstrated by the (ongoing) exploitation of data from the pioneering photometric missions CoRoT, Kepler, and K2, asteroseismology provides the way forward: solar-like oscillating giants are excellent evolutionary clocks thanks to the availability of seismic constraints on their mass and to the tight age-initial-mass relation they adhere to. In this paper we identify five key outstanding questions relating to the formation and evolution of the Milky Way that will need precise and accurate ages for large samples of stars to be addressed, and we identify the requirements in terms of number of targets and the precision on the stellar properties that are needed to tackle such questions. By quantifying the asteroseismic yields expected from PLATO for red-giant stars, we demonstrate that these requirements are within the capabilities of the current instrument design, provided that observations are sufficiently long to identify the evolutionary state and allow robust and precise determination of acoustic-mode frequencies. This will allow us to harvest data of sufficient quality to reach a 10% precision in age. This is a fundamental pre-requisite to then reach the more ambitious goal of a similar level of accuracy, which will only be possible if we have to hand a careful appraisal of systematic uncertainties on age deriving from our limited understanding of stellar physics, a goal which conveniently falls within the main aims of PLATO's core science.
ISSN: 0004-6337

hal-01541393
https://hal.archives-ouvertes.fr/hal-01541393
ARXIV : 1706.3778
BIBCODE : 2017AN....338..644M
DOI : 10.1002/asna.201713385

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Ethnopharmacological relevancePsidium acutangulum Mart. ex DC is a small tree used by the Wayana Amerindians from the Upper-Maroni in French Guiana for the treatment of malaria.Aim of the studyIn a previous study, we highlighted the in vitro antiplasmodial, antioxidant and anti-inflammatory potential of the traditional decoction of P. acutangulum aerial parts. Our goal was then to investigate on the origin of the biological activity of the traditional remedy, and eventually characterize active constituents.Materials and methodsLiquid-liquid extractions were performed on the decoction, and the antiplasmodial activity evaluated against chloroquine-resistant FcB1 ([3H]-hypoxanthine bioassay) and 7G8 (pLDH bioassay) P. falciparum strains, and on a chloroquine sensitive NF54 ([3H]-hypoxanthine bioassay) P. falciparum strain. The ethyl acetate fraction (D) was active and underwent bioguided fractionation. All the isolated compounds were tested on P. falciparum FcB1 strain. In vitro anti-inflammatory activity (IL-1β, IL-6, IL-8, TNFα) of the ethyl acetate fraction and of an anti-Plasmodium active compound, was concurrently assessed on LPS-stimulated human PBMC and NO secretion inhibition was measured on LPS stimulated RAW murine macrophages. Cytotoxicity of the fractions and pure compounds was measured on VERO cells, L6 mammalian cells, PBMCs, and RAW cells.ResultsFractionation of the ethyl acetate soluble fraction (IC50 ranging from 3.4 to <1 µg/mL depending on the parasite strain) led to the isolation of six pure compounds: catechin and five glycosylated quercetin derivatives. These compounds have never been isolated from this plant species. Two of these compounds (wayanin and guaijaverin) were found to be moderately active against P. falciparum FcB1 in vitro (IC50 5.5 and 6.9 µM respectively). We proposed the name wayanin during public meetings organized in June 2015 in the Upper-Maroni villages, in homage to the medicinal knowledge of the Wayana population. At 50 µg/mL, the ethyl acetate fraction (D) significantly inhibited IL-1β secretion (−46%) and NO production (−21%), as previously observed for the decoction. The effects of D and guiajaverin (4) on the secretion of other cytokines or NO production were not significant.ConclusionsThe confirmed antiplasmodial activity of the ethyl acetate soluble fraction of the decoction and of the isolated compounds support the previous results obtained on the P. acutangulum decoction. The antiplasmodial activity might be due to a mixture of moderately active non-toxic flavonoids. The anti-inflammatory activities were less marked for ethyl acetate fraction (D) than for the decoction.
ISSN: 0378-8741

hal-01313006
http://hal.upmc.fr/hal-01313006
http://hal.upmc.fr/hal-01313006/document
http://hal.upmc.fr/hal-01313006/file/Houel_Wayanin_and.pdf
DOI : 10.1016/j.jep.2016.04.053

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
We explore the use of seismic noise produced by rivers to monitor the bed load transport in the case of a low-discharge braided river in the French Alps: the "torrent de St Pierre". For this purpose, we deployed two dedicated seismic networks during summers 2007 and 2008, for which the characteristics of the recorded continuous signal are similar despite changes in the sensor locations. For dry weather conditions, only melting of nearby glaciers controls the supply of water to the stream. In these conditions, the river hydrology and the seismic energy in the 2-80 Hz frequency band both follow a diurnal fluctuation similar to the thermal amplitude. In contrast during rainfall episodes, the temperature variation fails to explain the hydrodynamic changes. Dense cloud covers reduce glacier melting and the recorded seismic energy denotes bursts of high-frequency seismic noise well correlated with water level data. Comparisons between the recorded seismic signals and the collected hydrological and sediment load data indicate that a frequency band of 3-9 Hz best explains the water level changes and thus the seismic waves coming from the flow turbulence. These analyses also reveal the presence of a seismic noise threshold that might be linked to the water shear stress exerted by the flowing water. Using the seismic energy in this frequency band as a proxy of the fluvial shear stress, the seismic-hydrologic relationship may be sensitive to variations in bed load transport. The spectral content of the seismic energy shows patterns consistent with the mobilization of sediment particles. From the interpretations of the seismic wave attenuation of river sources, we finally propose that stations at a distance from the stream less than 50 m are able to record most sediment particles. Farther stations are still useful during extreme events when largest grain sizes are mobilized. More generally this study demonstrates the feasibility of using the river seismic signal to survey bed load transport in various river types from small braided mountain rivers like the "torrent de St Pierre" to the large entrenched Himalayan rivers.
ISSN: 0022-1694

hal-00644789
https://hal.archives-ouvertes.fr/hal-00644789
DOI : 10.1016/j.jhydrol.2011.07.014

Éditeur(s) : HAL CCSD Seismological Society of America
Résumé : International audience
Abstract The continuous record of large surface-rupturing earthquakes along the Dead Sea fault brings unprecedented insights for paleoseismic and archaeoseismic research. In most recent studies, paleoseismic trenching documents the late Holocene faulting activity, while tectonic geomorphology addresses the long-term behavior (>10 ka), with a tendency to smooth the effect of individual earthquake rupture events (Mw >7). Here, we combine historical, archaeological, and paleoseismic investigations to build a consolidated catalog of destructive surface-rupturing earthquakes for the last 14 ka along the left-lateral Jordan Valley fault segment. The 120- km-long fault segment limited to the north and the south by major pull-apart basins (the Hula and the Dead Sea, respectively) is mapped in detail and shows five subsegments with narrow stepovers (width < 3 km). We conducted quantitative geomorphology along the fault, measured more than 20 offset drainages, excavated four trenches at two sites, and investigated archaeological sites with seismic damage in the Jordan Valley. Our results in paleoseismic trenching with 28 radiocarbon datings and the archaeoseismology at Tell Saydiyeh, supplemented with a rich historical seismic record, document 12 surface-rupturing events along the fault segment with a mean interval of ∼1160 yr and an average 5 mm=yr slip rate for the last 25 ka. The most complete part of the catalog indicates recurrence intervals that vary from 280 yr to 1500 yr, with a median value of 790 yr, and suggests an episodic behavior for the Jordan Valley fault. Our study allows a better constraint of the seismic cycle and related short-term variations (late Holocene) versus long-term behavior (Holocene and late Pleistocene) of a major continental transform fault.
ISSN: 0037-1106

hal-00747401
https://hal.archives-ouvertes.fr/hal-00747401
DOI : 10.1785/0120100097

Éditeur(s) : HAL CCSD SAGE Publications (UK and US)
Résumé : International audience
In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop codon (p.N120fz*2). We characterized the enamel structure of the latter case using scanning electron microscopy analysis and microanalysis (Energy-dispersive X-ray Spectroscopy, EDX) and confirmed the hypomaturation-type amelogenesis imperfecta as identified in the clinical diagnosis. The mineralized content was slightly decreased, with magnesium substituting for calcium in the crystal structure. The anomalies affected enamel with minimal inter-rod enamel present and apatite crystals perpendicular to the enamel prisms, suggesting a possible new role for MMP20 in enamel formation.
ISSN: 0022-0345

hal-01545484
https://hal.archives-ouvertes.fr/hal-01545484
DOI : 10.1177/0022034513488393

Éditeur(s) : HAL CCSD Springer Verlag
Résumé : International audience
Random walk (RW) or Continuous Time Random Walk (CTRW) are recurring Monte Carlo methods used to model convective and diffusive transport in complex heterogeneous media. Many applications can be found, including fluid mechanic, hydrology, and chemical reactors modeling. These methods are easy to implement, very versatile and flexible enough to become appealing for many applications because they generally overlook of deeply simplify the building of explicit complex meshes required by deterministic methods. RW and CTRW provide a good physical understanding of the interactions between the space scales of het-erogeneities and the transport phenomena under consideration. In addition, they can result in efficient up-scaling methods, especially in context of flow and transport in fractured media. In the present study, we review the applications of RW or CTRW for several situations coping with various spatial scales, and different insights into up-scaling applications. RW and CTRW advantages and downsides are also discussed, thus providing a few avenues for further works and applications.
ISSN: 0169-3913

hal-01449131
https://hal.archives-ouvertes.fr/hal-01449131
https://hal.archives-ouvertes.fr/hal-01449131/document
https://hal.archives-ouvertes.fr/hal-01449131/file/0025972-02.pdf
DOI : 10.1007/s11242-016-0693-z

Éditeur(s) : HAL CCSD American Geophysical Union
Résumé : During the 2003 summer monsoon, the Hi-CLIMB seismological stations deployed across the Himalayan Range detected bursts of high-frequency seismic noise that lasted several hours to days. On the basis of the cross correlation of seismic envelopes recorded at 11 stations, we show that the largest transient event on 15 August was located nearby a village partially destroyed on that day by a devastating debris flow. This consistency in both space and time suggests that high-frequency seismic noise analysis can be used to monitor debris flow generation as well as the evacuation of the sediment. A systematic study of one year of seismic noise, focusing on the detection of similar events, provides information on the spatial and temporal occurrence of mass movements at the front of the Himalayas. With a 50% probability of occurrence of a daily event, a total of 46 debris flows are seismically detected. Most of them were generated in regions of steep slopes, large gullies, and loose soils during the 2003 summer monsoon storms. These events are compared to local meteorological data to determine rainfall thresholds for slope failures, including the cumulative rainfall needed to bring the soil moisture content to failure capacity. The inferred thresholds are consistent with previous estimates deduced from soil studies as well as sediment supply investigations in the area. These results point out the potential of using seismic noise as a dedicated tool for monitoring the spatiotemporal occurrence of landslides and debris flows on a regional scale.
ISSN: 0148-0227

hal-00464177
https://hal.archives-ouvertes.fr/hal-00464177
DOI : 10.1029/2008JF001198

Éditeur(s) : HAL CCSD Springer Verlag
Résumé : International audience
Random walk (RW) methods are recurring Monte Carlo methods used to modelconvective and diffusive transport in complex heterogeneous media. Many applications canbe found, including fluid mechanic, hydrology and chemical reactors modeling. These methodsare easy to implement, very versatile and flexible enough to become appealing for manyapplications because they generally overlook or deeply simplify the building of explicit complexmeshes required by deterministic methods. RWprovides a good physical understandingof the interactions between the space scales of heterogeneities and the transport phenomenaunder consideration. In addition, they can result in efficient upscaling methods, especiallyin the context of flow and transport in fractured media. In the present study, we review theapplications of RW to several situations that cope with diverse spatial scales and differentinsights into upscaling problems. The advantages and downsides of RW are also discussed,thus providing a few avenues for further works and applications.
ISSN: 0169-3913

insu-01308060
https://hal-insu.archives-ouvertes.fr/insu-01308060
DOI : 10.1007/s11242-016-0693-z

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : We present a regional surface waveform tomography of the Pacific upper mantle, obtained using an automated multimode surface waveform inversion technique on fundamental and higher mode Rayleigh waves, to constrain the VSV structure down to ∼400 km depth. We have improved on previous implementations of this technique by robustly accounting for the effects of uncertainties in earthquake source parameters in the tomographic inversion. We have furthermore improved path coverage in the South Pacific region by including Rayleigh wave observations from the French Polynesian Pacific Lithosphere and Upper Mantle Experiment deployment. This improvement has led to imaging of vertical low-velocity structures associated with hotspots within the South Pacific Super-Swell region. We have produced an age-dependent averagecross-sectionforthePacificOceanlithosphereandfoundthattheincreaseinVSV with age is broadly compatible with a half-space cooling model of oceanic lithosphere formation. We cannot confirm evidence for a Pacific-wide reheating event. Our synthetic tests show that detailed interpretation of average VSV trends across the Pacific Ocean may be misleading unless lateral resolution and amplitude recovery are uniform across the region, a condition that is difficult to achieve in such a large oceanic basin with current seismic stations.
ISSN: 0956-540X

hal-00105949
https://hal.archives-ouvertes.fr/hal-00105949
https://hal.archives-ouvertes.fr/hal-00105949/document
https://hal.archives-ouvertes.fr/hal-00105949/file/Maggi_Pacif_tomo_GJI2006.pdf
DOI : 10.1111/j.1365-246X.2006.03037.x

Éditeur(s) : HAL CCSD American Geophysical Union
Résumé : The acquisition of reliable data sets representative of hydrological regimes and their variations is a critical concern for water resource assessment. For the subsurface, traditional approaches based on probe measurements, core analysis, and well data can be laborious, expensive, and highly intrusive, while only yielding sparse data sets. For this study, an innovative field survey, merging relative microgravimetry, magnetic resonance soundings, and hydrological measurements, was conducted to evaluate both surface and subsurface water storage variations in a semiarid Sahelian area. The instrumental setup was implemented in the lower part of a typical hillslope feeding to a temporary pond. Weekly measurements were carried out using relative spring gravimeters during 3 months of the rainy season in 2009 over a 350 × 500 m2 network of 12 microgravity stations. Gravity variations of small to medium amplitude (≤220 nm s−2) were measured with accuracies better than 50 nm s−2, revealing significant variations of the water storage at small time (from 1 week up to 3 months) and space (from a couple of meters up to a few hundred meters) scales. Consistent spatial organization of the water storage variations were detected, suggesting high infiltration at the outlet of a small gully. The comparison with hydrological measurements and magnetic resonance soundings involved that most of the microgravity variations came from the heterogeneity in the vadose zone. The results highlight the potential of time lapse microgravity surveys for detecting intraseasonal water storage variations and providing rich space-time data sets for process investigation or hydrological model calibration/evaluation
ISSN: 0043-1397

hal-00857351
https://hal.archives-ouvertes.fr/hal-00857351
DOI : 10.1002/wrcr.20235

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
The Longmen Shan (Sichuan, China) is characterised by an unusual morphology which results from a Triassic prism tectonics and a more recent Neogene thick-skin thrusting. Among its specific features is the high elevation of the internal zones in continuity with the Songpan Garze fold-and-thrust belt (SG), which is associated with an abrupt 20 km Moho offset between the Sichuan Basin and the Tibetan plateau as revealed by the analysis of teleseismic data acquired by a dense seismic network. The jump in crustal thickness is located at the apex of the Wenchuan shear zone (WSZ) and marks the western boundary of the metamorphosed units of SG characterized by temperatures varying from 590 degrees C down to 300 degrees C as commonly observed in mature accretionary wedges. Both the structural style marked by intense shortening in tight kink folds and geophysical data suggest the presence of an horizontal discontinuity at similar to 15 km depth over a thick crust (similar to 63 km).;The Longmen Shan east of the WSZ is characterized by thick-skin detachment which thrusts the internal sedimentary units and the Proterozoic basement over the series of the Sichuan Basin deposited on a thinner crust of similar to 44 km thick. The major front is the Beichuan Fault Zone (BFZ) which brought the internal zones onto Triassic and Jurassic series with lower temperatures (less than 400 degrees C). Locally, temperatures of similar to 425 degrees C are found just below the klippes.;These results are in agreement with an original contact of the SG zone represented by an accretionary wedge of sediments thrusted over the margin of the continental crust of the Yangtze craton in the early stage (Indosinian) of the evolution. The present-day slow E-W component of the convergence, added to the difference in crustal thickness caused the Yangtze crust to indent the Songpan Tibetan crust which was softened by a high thermal regime. As a response the edge of the Tibet crust was inflated to the bottom (up to 70 km), whereas to the top, the crystalline massif were exhumed and pushed the deformation eastward as emerging and blind thrusts. This configuration reflects a moderate shortening of the crust which behaves as a soft thick material abutting the resistant and cold Yangtze crust.
ISSN: 0040-1951

hal-00534849
https://hal.archives-ouvertes.fr/hal-00534849
DOI : 10.1016/j.tecto.2010.03.018

Éditeur(s) : HAL CCSD Cambridge University Press (CUP)
Résumé : International audience
This paper presents a synthetic view of the geodynamic evolution of the Zagros orogen within the frame of the Arabia-Eurasia collision. The Zagros orogen and the Iranian plateau preserve a record of the long-standing convergence history between Eurasia and Arabia across the Neo-Tethys, from subduction/obduction processes to present-day collision (from ~ 150 to 0 Ma). We herein combine the results obtained on several geodynamic issues, namely the location of the oceanic suture zone, the age of oceanic closure and collision, the magmatic and geochemical evolution of the Eurasian upper plate during convergence (as testified by the successive Sanandaj-Sirjan, Kermanshah and Urumieh-Dokhtar magmatic arcs), the P-T-t history of the few Zagros blueschists, the convergence characteristics across the Neo-Tethys (kinematic velocities, tomographic constraints, subduction zones and obduction processes), together with a survey of recent results gathered by others. We provide lithospheric-scale reconstructions of the Zagros orogen from ~ 150 to 0 Ma across two SW-NE transects. The evolution of the Zagros orogen is also compared to those of the nearby Turkish and Himalayan orogens. In our geotectonic scenario for the Zagros convergence, we outline three main periods/regimes: (1) the Mid to Late Cretaceous (115-85 Ma) corresponds to a distinctive period of perturbation of subduction processes and interplate mechanical coupling marked by blueschist exhumation and upper-plate fragmentation, (2) the Paleocene-Eocene (60-40 Ma) witnesses slab break-off, major shifts in arc magmatism and distributed extension within the upper plate, and (3) from the Oligocene onwards (~ 30-0 Ma), collision develops with a progressive SW migration of deformation and topographic build-up (Sanandaj-Sirjan Zone: 20-15 Ma, High Zagros: ~12-8 Ma; Simply Folded Belt: 5-0 Ma) and with partial slab tear at depths (~10 Ma to present). Our reconstructions underline the key role played by subduction throughout the whole convergence history. We finally stress that such a long-lasting subduction system with changing boundary conditions also makes the Zagros orogen an ideal natural laboratory for subduction processes.
ISSN: 0016-7568

insu-00616582
https://hal-insu.archives-ouvertes.fr/insu-00616582
https://hal-insu.archives-ouvertes.fr/insu-00616582/document
https://hal-insu.archives-ouvertes.fr/insu-00616582/file/692.full.pdf
DOI : 10.1017/S001675681100046X