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from azoospermia to macrozoospermia,a phenotypic continuum due to mutations in the ZMYND15 gene

Asian Journal of Andrology 2022年第3期24卷 243-247页

作者： Zine-Eddine Kherraf Caroline Cazin florence Lestrade Jana Muronova Charles Coutton Christophe Arnoult Nicolas Thierry-Mieg pierre f ray Univ.Grenoble Alpes INSERM U1209CNRS UMR 5309Institute for Advanced BiosciencesTeam Genetics Epigenetics and Therapies of InfertilityGrenoble 38000France CHU Grenoble Alpes UM GI-DPIGrenoble 38000France CHR Metz Thionville Hospital 1 allée ChâteauMETZ 57000France CHU Grenoble Alpes UM of Chromosomic GeneticsGrenoble 38000France Univ.Grenoble Alpes CNRSTIMC-IMAGGrenoble F-38000France

Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing(WES),many genes have now been linked to severe sperm defects.A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C(AURKC)***,we studied a subject with a severe oligozoospermia and a phenotypic diagnosis of *** analysis did not reveal any deleterious *** was then initiated which permitted to identify a homozygous loss of function variant in the zinc finger MYND-type containing 15(ZMYND15)***15 has been described to serve as a switch for haploid gene expression,and mice devoid of ZMYND15 were shown to be sterile due to nonobstructive azoospermia(NOA).In man,ZMYND15 has been associated with NOA and severe *** confirm here that the presence of a bi-allelic ZMYND15 variant induces a severe *** addition,we show that severe oligozoospermia can be associated macrozoospermia,and that a phenotypic misdiagnosis is possible,potentially delaying the genetic *** conclusion,genetic defects in ZMYND15 can induce complete NOA or severe oligozoospermia associated with a very severe *** our experience,severe oligozoospermia is often associated with severe teratozoospermia and can sometimes be misinterpreted as macrozoospermia or *** these instances,specific AURKC or dpy-19 like 2(DPY19L2)diagnosis is usually negative and we recommend the direct use of a pan-genomic techniques such as WES.

关键词： azoospermia gene defect macrozoospermia male infertility

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Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men

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Asian Journal of Andrology 2015年第1期17卷 68-73,I0008页

作者： Leyla Ounis Abdelali Zoghmar Charles Coutton Leila Rouabah Maroua Hachemil Delphine Martinez Guillaume Martinez Ines Bellil Douadi Khelifi Christophe Arnoult Julien faure Sebti Benbouhedja Abdelkader Rouabah pierre f ray Laboratoire de Biologie Moleculaire et Cellulaire Faculte des Sciences de la Nature et de la Vie Universite Constantine I Algerie Clinique Ibn Rochd Centre de Medecine de la Reproduction Constantine Algerie Universite Grenoble Alpes Grenoble France Equipe Genetique Epigenetique et Therapies de I'lnfertilitE CNRS AGIM Grenoble France Laboratoire de GEnetique Chromosomique CHU Grenoble Grenoble France Laboratoire de Biochimie et Genetique Moleculaire CHU Grenoble Grenoble France Equipe Muscle et Pathologies INSERM U836 Grenoble Institut des Neurosciences Grenoble France.

Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C （AURKCj and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia, respectively, two rare forms of teratozoospermia particularly frequent among North African men. We carried out genetic analyses on Algerian patients, to evaluate the prevalence of these syndromes in this population and to compare it with the expected frequency of Klinefelter syndrome and Y-microdeletions. We carried out a retrospective study on 599 consecutive patients consulting for couple infertility at the assisted reproduction unit of the Ibn Rochd Clinique, Constantine, Algeria. Abnormal sperm parameters were observed in 404 men. fourteen and seven men had typical macrozoospermia and globozoospermia profiles, respectively. Molecular diagnosis was carried out for these patients, for the AURKC and DPY19L2 genes. Eleven men with macrozoospermia had a homozygous AURKC mutation （79%）, corresponding to 2.7% of all patients with abnormal spermograms. All the men with globozoospermia studied （n = 5）, corresponding to 1.2% of all infertile men, presented a homozygous DPY19L2deletion. By comparison, we would expect 1.6% of the patients in this cohort to have Klinefelter syndrome and 0.23% to have Y-microdeletion. Our findings thus indicate that AURKCmutations are more frequent than Klinefelter syndrome and constitute the leading genetic cause of infertility in North African men. furthermore, we estimate that AURKCand DPY19L2 molecular defects are 10 and 5 times more frequent, respectively, than Y-microdeletions.

关键词： aurora kinase C DPY19L2 globozoospermia intracytoplasmic sperm injection infertility macrozoospermia

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Commentary on ＂morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China＂

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Asian Journal of Andrology 2016年第5期18卷 812-812页

作者： Charles Coutton Christophe Arnoult pierre f ray Universite Grenoble Alpes Grenoble F-38000 France Equipe 'Genetics Epigenetics and Therapies of Infertility' Institut Albert Bonniot INSERM U823 La Tronche F-38706 France Departement de Genetique et Procreation Hopital Couple Enfant CHU Grenoble Grenoble F-38000 France Laboratoire de Biochimie Genetique et Moleculaire CHU Grenoble Grenoble F-38000 France.

Dear Editor, We have read with a great interest, the excellent article by Yang et al.1 which, for the first time, fully describes the structural and ultrastructural defects of spermatozoa with multiple morphological anomalies of the flagella （MMAf） in Chinese patients. This study revealed in these patient＇s spermatozoa, a completely disorganized axoneme and, in particular, the displacement or absence of the central pair （CP） in most of the cross sections were analyzed.

关键词： @@

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Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

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Journal of Genetics and Genomics 2023年第7期50卷 536-540页

作者： Alicia Coudert Caroline Cazin Amir Amiri-Yekta Selima fourati Ben Mustapha Raoudha Zouari Julien Bessonat Abdelali Zoghmar Antoine Clergeau Catherine Metzler-Guillemain Chema Triki Herve Lejeune Nathalie Sermondade Eva Pipiras Nadia Prisant Isabelle Cedrin Leila Keskes florence Lestrade Laetitia Hesters Nathalie Rives Beatrice Dorphin Agnes Guichet Catherine Patrat Emmanuel Dulioust Aur elie feraille franc ois Robert Eric Bieth Arthur Sorlin Jean-pierre Siffroi Mariem Ben Khelifa florence Boiterelle Sylvianne Hennebicq Veronique Satre Christophe Arnoult Charles Coutton Anne-Laure Barbotin Nicolas Thierry-Mieg Zine-Eddine Kherraf pierre f.ray Genetic Epigenetic and Therapies of Infertility Team Institute for Advanced BiosciencesInserm U 1209CNRS UMR 5309Universite Grenoble Alpes38000GrenobleFrance CHU Grenoble Alpes UM GI-DPI38000GrenobleFrance CHU Grenoble Alpes UM de Genetique Chromosomique38000GrenobleFrance Department of Genetics Reproductive Biomedicine Research CenterRoyan Institute for Reproductive BiomedicineACECRTehranIran Polyclinique les Jasmins Centre d’Aide M edicale a la Procr eationCentre Urbain Nord1003TunisTunisia CHU Grenobles Alpes UF de Biologie de la Procr eation38000GrenobleFrance Reproduction Sciences and Surgery Clinique Ibn RochdConstantineAlgeria CHU Caen CECOS de CaenD epartement de BiologieUnit e de Biologie de la Reproduction14033CaenFrance APHM Hopital La-Conception P^ole Femmes-parents-enfantsCentre Clinico-biologique d’assistance M edicale a la Procr eation-CECOS13385 MarseilleFrance Aix-Marseille Univ InsermMMGU125113385 Marseille Medical Genetics13385 MarseilleFrance Clinique Hannibal Centre d’AMPLes Berges du Lac1053TunisTunisia Reproductive Medicine Department Hospices Civil de LyonLyonFrance Hopital Jean Verdier Universit e Sorbonne Paris NordParisFrance CHU de Pointe-a-Pitre/Abymes GuadeloupeFrance Service de Medecine de la Reproduction CHU Jean VerdierParisFrance faculte de M edecine de Sfax SfaxTunisia CHR Metz-Thionville Service d’Assistance Medicale a la Procr eation57530Ars-LaquenexyFrance Unit of Reproductive Biology Antoine B ecl ere University HospitalUniversity Paris SudClamartParis-Sud UniversityLe Kremlin Bic^etreFrance Univ Rouen Normandie Inserm U1239NorDICAdrenal and Gonadal PathophysiologyReproductive Biology Laboratory-CECOSRouen University Hospital76031Rouen CedexFrance CHAL Centre Hospitalier Alpes Leman Centre AMP7474130Contamine-sur-ArveFrance CHU Angers Service de Gen etique49933AngersINSERM U1083France Service de Biologie de la Reproduction-CECOS Hopital Cochin 74014ParisFrance IRH Medicentre Clinique du Val d’Ouest39

Macrozoospermia,characterized by the presence of largeheaded spermatozoa usually carrying several flagella,is one of the most severe phenotypes of male *** in most cases,the gametes are chromosomally abnormal and cannot be used for assisted reproductive technologies(ART)(ray et al.,2017).In 2007,subjects from consanguineous families were shown to carry the same homozygous deleterious AURKC variant(NM_001015878.2:c.144delC,later renamed c.145delC,***49TrpfsTer23),establishing AURKC as the first and main gene associated with macrozoospermia(Dieterich et al.,2007).Using flow cytometry,all spermatozoa from patients homozygous for the c.145delC variant were shown to be tetraploid,highlighting a cytokinesis blockage of the first meiotic divisions thus confirming that ART cannot be successful for these patients(Dieterich et al.,2009).

关键词： diagnosis establishing

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A novel responsive stabilizing Janus nanosilica as a nanoplugging agent in water-based drilling fluids for exploiting hostile shale environments

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Petroleum Science 2024年第2期21卷 1190-1210页

作者： Alain pierre Tchameni Lv-Yan Zhuo Lesly Dasilva Wandji Djouonkep Robert Dery Nagre Lu-Xin Chen Lin Zhao Chao Ma Bin-Qiang Xie College of Petroleum Engineering Yangtze UniversityWuhan430100HubeiChina Key Laboratory of Drilling and Production Engineering for Oil and Gas HubeiChina Lost Circulation Control Laboratory National Engineering Laboratory for Petroleum Drilling EngineeringYangtze UniversityWuhan430100HubeiChina College of Petroleum Engineering Shandong Institute of Petroleum and Chemical TechnologyDongying257061ShandongChina Petroleum Engineer Research Institute of Petrochina Dagang Oilfield Tianjin300280China Department of Chemical Engineering Kumasi Technical UniversityP.O.Box 854KumasiGhana

Thermo-responsive nanocomposites have recently emerged as potential nanoplugging agents for shale stabilization in high-temperature water-based drilling fluids(WBDfs). However, their inhibitory properties have not been very effective in high-temperature drilling operations. Thermo-responsive Janus nanocomposites are expected to strongly interact with clay particles from the inward hemisphere of nanomaterials, which drive the establishment of a tighter hydrophobic membrane over the shale surface at the outward hemisphere under geothermal conditions for shale stabilization. This work combines the synergistic benefits of thermo-responsive and zwitterionic nanomaterials to synchronously enhance the chemical inhibitions and plugging performances in shale under harsh conditions. A novel thermoresponsive Janus nanosilica(TRJS) exhibiting zwitterionic character was synthesized, characterized,and assessed as shale stabilizer for WBDfs at high temperatures. Compared to pristine nanosilica(Si NP)and symmetrical thermo-responsive nanosilica(TRS), TRJS exhibited anti-polyelectrolyte behaviour, in which electrolyte ions screened the electrostatic attraction between the charged particles, potentially stabilizing nanomaterial in hostile shaly environments(i.e., up to saturated brine or API brine). Macroscopically, TRJS exhibited higher chemical inhibition than Si NP and TRS in brine, prompting a better capability to control pressure penetration. TRJS adsorbed onto the clay surface via chemisorption and hydrogen bonding, and the interactions became substantial in brine, according to the results of electrophoretic mobility, surface wettability, and X-ray diffraction. Thus, contributing to the firm trapping of TRJS into the nanopore structure of the shale, triggering the formation of a tight hydrophobic membrane over the shale surface from the outward hemisphere. The addition of TRJS into WBDf had no deleterious effect on fluid properties after hot-treatment at 190℃, implying that TRJ

关键词： Janus nanosilica Thermo-responsive copolymer Anti-polyelectrolyte effect Shale stabilizer Inhibition Plugging Drilling fluid

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Diatom and Diatomite: Different focus on Natural Media to Material Science Path

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American Journal of Analytical Chemistry 2024年第1期15卷 1-29页

作者： Secou Sall Vasiliki Papaefthimiou Thierry Dintzer fabrice Vigneron Eric Brendlé pierre Petit Tom ferte Saliha Haddoum Sana Labidi Corinne Petit ICPEES UMR-CNRS 7515 Strasbourg University Strasbourg France Adscientis Wittelsheim France ICS CNRS UPR 22 Strasbourg France IPCMS UMR CNRS 7504 Strasbourg University Strasbourg France Ecole Nationale Polytechnique El-Harrach Algeria

Bio-silica issued from diatom, a microalgae, is attracted increasing attention in material science thanks to its peculiar nanoarchitecture and related properties with versatile applications. The present work is a deep analysis on morphological and chemical properties of bio-silica issued from fossil origin (diatomaceous earth) and living one (algal paste). An optimization in purification protocol was performed to obtain multiparous bio-silica from its raw media with keeping its original shape entirely. Multiple characterization methods as scanning electronic microscopy (SEM), infrared spectroscopy, x-ray diffraction (DRX), X-ray photoelectron spectroscopy (XPS), energy dispersive X-ray spectroscopy (EDX), nitrogen adsorption and inverse gas chromatography (IGC), were used to check the purification protocol efficiency as well as to gather accurate information on morphology and chemical composition of diatom material obtained in large amount.

关键词： Diatom Diatomite Bio-Silica Purification frustule

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GEOEssential–mainstreaming workflows from data sources to environment policy indicators with essential variables

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International Journal of Digital Earth 2020年第2期13卷 322-338页

作者： Anthony Lehmann Stefano Nativi Paolo Mazzetti Joan Maso Ivette Serral Daniel Spengler Aidin Niamir Ian McCallum pierre Lacroix Petros Patias Denisa Rodila Nicolas ray Grégory Giuliani enviroSPACE Institute for Environmental SciencesUniversity of GenevaGenevaSwitzerland Dpt.f.-A.forel for Environment and Water Sciences Faculty of SciencesUniversity of GenevaGenevaSwitzerland National Research Council of Italy–Institute of Atmospheric Pollution Research Sesto Fiorentino(FI)Italy CREAf Grumets research group CREAF.Edifici C.Universitat Autònoma de BarcelonaBellaterraSpain Remote Sensing Section Helmholtz Center Potsdam GFZ German Research Center for GeosciencesPotsdamGermany Senckenberg Biodiversity and Climate Research Institute Senckenberg Gesellschaft für NaturforschungFrankfurt am MainGermany International Institute for Applied Systems Analysis LaxenburgAustria GRID-Geneva Institute for Environmental SciencesUniversity of GenevaGenevaSwitzerland School of Surveying Engineering Aristotle University of ThessalonikiThessalonikiGreece GeoHealth Group Institute of Global HealthFaculty of MedicineUniversity of GenevaGenevaSwitzerland

When defining indicators on the environment,the use of existing initiatives should be a priority rather than redefining indicators each *** an Information,Communication and Technology perspective,data interoperability and standardization are critical to improve data access and exchange as promoted by the Group on Earth *** is following an end-user driven approach by defining Essential Variables(EVs),as an intermediate value between environmental policy indicators and their appropriate data *** international to local scales,environmental policies and indicators are increasingly percolating down from the global to the local *** scientific business processes for the generation of EVs and related indicators can be formalized in workflows specifying the necessary logical *** this aim,GEOEssential is developing a Virtual Laboratory the main objective of which is to instantiate conceptual workflows,which are stored in a dedicated knowledge base,generating executable *** interpret and present the relevant outputs/results carried out by the different thematic workflows considered in GEOEssential(***,ecosystems,extractives,night light,and food-water-energy nexus),a Dashboard is built as a visual *** is a valuable instrument to track progresses towards environmental policies.

关键词： SDGs environmental policies essential variables earth observation knowledge base workflows virtual research environment

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Research on fabrication and properties of nanoporous GaN epilayers

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Rare Metals 2006年第Z2期25卷 5-10页

作者： NOUET Gérard RUTERANA pierre Laboratoire Structures des Interfaces et fonctionnalité des Couches Minces UMR CNRS 6176 ENSICAEN6 Boulevard du Maréchal Juin 14050 Caen Cedex France

Gallium nitride (GaN) epilayers with nanopore arrays were fabricated by inductive coupled plasma (ICP) etching using anodic aluminum oxide (AAO) as mask. Nanoporous AAO templates were formed by anodizing the Al films deposited on GaN epilayers. The diameter of the perforations in the AAO masks could be easily controlled by tuning the technique parameters of AAO fabrication process. Cl2/Ar and Cl2/He were employed as etching gas. Scanning electron microscopy (SEM) analysis shows that vertical nanoporous arrays with uniform distribution can directly be transferred from AAO masks to GaN films in some proper conditions. Photoluminescence (PL) spectra, X-ray diffraction (XRD) and Raman spectroscopy were applied to assess properties of the nanoporous GaN films with different average pore diameters and interpore distances.

关键词： nanoporous GaN ICP etching

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Growth of high-quality thick GaN using a tungsten interlayer

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Rare Metals 2006年第Z2期25卷 11-14页

作者： NOUET Gérard RUTERANA pierre Laboratoire Structures des Interfaces et fonctionnalité des Couches Minces UMR CNRS 6176 ENSICAEN 6 Boulevard du Maréchal Juin 14050 Caen Cedex France

A high-quality GaN film was (W-GaN) grown by hydride vapor phase epitaxy (HVPE) on metalorganic chemical vapor deposition (MOCVD) GaN templates with a tungsten (W) interlayer. A sample without interlayer was also grown at the same time for comparison. Significant reductions of dislocation density in W-GaN film is confirmed by the result of high-resolution X-ray diffraction and transmission electron microscope (TEM) observation. The improvement of optical properties of the W-GaN is confirmed by photoluminescence (PL) result. A shift of PL peak suggests that the strain is lower in the W-GaN than the film without W interlayer. This technique offers a potential path to obtain high-quality GaN film as free-standing substrate.

关键词： GaN tungsten interlayer HVPE HRXRD

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Pozzolanic reactivity of silico-aluminous fly ash

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Particuology 2008年第2期6卷 93-98页

作者： pierre Adamiec Jean-Charles Benezet Ali Benhassaine Ecole des Mines d'Alès 6 Avenue de Clavières30319 ALES CedexFrance

for some years it has been possible to control the particle size of fly ashes, by-products of thermal power stations. Incorporating these very fine particles （obtained by grinding and/or pneumatic selection） improves the physical-mechanical characteristics of mortars and concretes. In this study, we measured the lime consumption of the various fractions （granulometric and densimetric） and identified by X-ray diffraction the neoformed phases by the pozzolanic reaction, to show that it is not sufficient to simply define the pozzolanicity of products based on lime consumption since it does not take into account the nature of the phases formed. The size of the particles used in the test samples also has a determining effect on the quantity of lime consumed. Before comparing results, it is necessary to ensure that the size of the particles （of the global ash and its constituents） be the same. Two distinct neoformed ohases appear： CSH in the largest granular fractions （d〉 40 μm） and C3AH6 in the smaller fractions.

关键词： fly ash Pozzolanic reaction Particle size

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