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A pilot study of the association between genetic polymorphisms involved in estrogen signaling and infant male genital phenotypes

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Asian Journal of Andrology 2012年第5期14卷 766-772页

作者： Sheela Sathyanarayana Shanna H Swan federico m farin Hui-Wen Wilkerson michael Bamshad Richard Grady Chuan Zhou Stephen m Schwartzy Department of Pediatrics University of WashingtonSeattleWA 98195USA Center for Child Health Behaviorand DevelopmentSeattle Children's Research InstituteSeattleWA 98105USA Department of Preventive medicine Mount Sinai School of MedicineNew YorkNY 10029USA Department of Environmental and Occupational Health Sciences University of WashingtonSeattleWA 98195USA Department of Genome Sciences University of WashingtonSeattleWA 98195USA Division of Pediatric Urology Seattle Children's HospitalSeattleWA 98105USA Department of Epidemiology University of WashingtonSeattleWA 98195USA Epidemiology Program Fred Hutchinson Cancer Research CenterSeattleWA 98109USA

Single nucleotide polymorphisms （SNPs） in genes that influence development of the male reproductive tract have been associated with male genitourinary abnormalities. However, no studies have tested the relationship between SNPs and intermediate phenotypes such as anogenital distance （AGD）, anoscrotal distance （ASD） and penile width （PW）. We tested whether 24 common SNPs in eight genes that influence male genital development were associated with intermediate phenotypes in 106 healthy male infants from the Study for Future Families. We used DNA from buccal smears and linear regression models to assess the relationship between anogenital measurements and SNP genotypes with adjustment for covariates. We found that the rs2077647 G allele, located in the coding region of estrogen receptor alpha （ESR1）, was associated with a shorter AGD （P=0.02; -7.3 mm, 95% confidence interval （CI）： -11.6 to -3.1）, and the rs10475 T allele, located in the 3＇ untranslated region of activating transcription factor 3 （ATF3）, was associated with a shorter ASD （-4.3 mm, 95% Ch -7.2 to -1.4）, although this result was not significant （P=0.07） after controlling for multiple comparisons. We observed no association between PW and the SNPs tested. minor alleles for two SNPs in genes that regulate estrogen signaling during male genital development were associated with AGD and ASD, although the significance of the association was marginal. Our findings suggest that AGD and ASD are influenced by heritable factors in genes known to be associated with frank male genital abnormalities such as hvpospadias and crvotorchidism.

关键词： gene hypospadias male phenotype polymorphism reproductive

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CONSTANS alters the circadian clock in Arabidopsis thaliana

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molecular Plant 2024年第8期17卷 1204-1220页

作者： Pedro de los Reyes Gloria Serrano-Bueno Francisco J.Romero-Campero He Gao Jose m.Romero federico Valverde Plant Development Group-Institute for Plant Biochemistry and Photosynthesis Consejo Superior de Investigaciones CientificasUniversidad de SevillaSevilleSpain Department of Computer Science and Artificial Intelligence Universidad de SevillaSevilleSpain Department of Plant Developmental Biology Max Planck Institute for Plant Breeding ResearchCologneGermany Department of Plant Biochemistry and molecular Biology Universidad de SevillaSevilleSpain

Plants are sessile organisms that have acquired highly plastic developmental strategies to adapt to the *** these processes,the floral transition is essential to ensure reproductive success and is finelyregulated by several internal andexternal genetic *** photoperiodic pathway,which controls plant response to day length,is one of the most important pathways controlling *** Arabidopsis photoperiodic flowering,CONSTANS(CO)is the central gene activating the expression of the florigen FLOWERING LOCUS T(FT)in the leaves at the end of a long *** circadian clock strongly regulates Co ***,to date,no evidence has been reported regarding a feedbackloop from the photoperiod pathway back to the circadian *** transcriptional networks,we have identified relevant network motifs regulating the interplay between the circadian clock and the photoperiod *** expression,chromatin immunoprecipitation experiments,and phenotypic analysis allowed us to elucidate the role of Co over the circadian *** with altered cO expression showed a different internal clock period,measured by daily leaf rhythmic *** showed that co upregulates the expression of key genes related to the circadian clock,such as CCA1,LHY,PRR5,and Gl,at the end of a long day by bindingto specific sites on their ***,a high numberof PRR5-repressed target genes are upregulated by CO,and this could explain the phase transition promoted by *** CO-PRR5 complex interacts with the bZiP transcriptionfactor HY5andhelps to localize the complex in the promoters of clock *** together,our results indicate that there may be a feedback loop in which co communicates back to the circadian clock,providing seasonal information to the circadian system.

关键词： CONSTANS circadian clock photoperiod

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Distinct vibrational signatures and complex phase behavior in metallic oxygen

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matter and Radiation at Extremes 2024年第2期9卷 4-11页

作者： Philip Dalladay-Simpson Bartomeu monserrat Li Zhang federico Gorelli Center for High Pressure Science Technology Advanced Research 1690 Cailun RoadShanghai 201203China Department of materials Science and metallurgy University of Cambridge27 Charles Babbage RoadCambridge CB3 OFSUnited Kingdom Cavendish Laboratory University of CambridgeJ.J.Thomson AvenueCambridge CB3 OHEUnited Kingdom Istituto Nazionale di Ottica Consiglio Nazionale delle Ricerche(CNR-INO)50125 FlorenceItaly Shanghai Advanced Research in Physical Sciences(SHARPS) ShanghaiChina

Evidence for metallization in dense oxygen has been reported for over 30 years[Desgreniers et al.,***.94,1117(1990)]at a now routinely accessible 95 GPa[Shimizu et al.,Nature 393,767(1998)].However,despite the longevity of this result and the technological advances since,the nature of the metallic phase remains poorly constrained[Akahama et al.,***.74,4690(1995);Goncharov et al.,***.B 68,224108(2003);ma,***.B 76,064101(2007);and Weck et al.,***.102,255503(2009)].In this work,through Raman spectroscopy,we report the distinct vibrational characteristics of metallicζ-O_(2) from 85 to 225 *** comparison with numerical simulations,weﬁnd reasonable agreement with the candidate structure up to about 150 *** higher pressures,the C2/mstructure is found to be unstable and incompatible with experimental *** candidate structures,and Ci,with C2/m C2/conly two molecules in the primitive unit cell,are found to be stable and more compatible with measurements above 175 GPa,indicative of the dissociation of(O_(2))4 ***,we report and discuss a strong hysteresis and metastability with the precursory phaseϵ-O_(2).Theseﬁndings will reinvigorate experimental and theoretical work into the dense oxygen system,which will have importance for oxygen-bearing chemistry,prevalent in the deep Earth,as well as fundamental physics.

关键词： metallic phase vibrational

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Assessment of slow deformations and landslide modelling in the urban area through a multi-methodological approach

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Journal of Earth Science 2024年

作者： Fabio Ietto massimo Conforti Cristiano Tolomei federico Cella Giuseppe Cianflone Università degli Studi della Calabria， Dipartimento di Biologia， Ecologia e Scienze della Terra (DiBEST)， Via P.Bucci， Cubo 15B， 87036 Consiglio Nazionale Ricerche (CNR)， Istituto di Ricerca per la Protezione Idrogeologica (IRPI)， Via Cavour INGV-Istituto Nazionale di Geofisica e Vulcanologia， Via di Vigna murata 605 Università di Camerino， Scuola di Scienze e Tecnologia， Sez.Geologia， Via Gentile III da Varano 27

Slow-moving landslides are widespread in the mediterranean area， causing damage to the exposed facilities and economic losses in many countries. The recognition of slow-moving landslides in urban areas is always a difficult task to deal with because the presence of buildings， infrastructures， and human activities usually conceals the morphological signs of these landslide activities. So， in the last decades， numerous researchers have shown new methodologies to deepen the studies of similar instability phenomena. The present research is based on an integrated approach to investigate the landslide boundaries， type of movement， failure surface depth， and vulnerability state of buildings in Rota Greca village (Calabria region， southern Italy) affected by a slow-moving landslide. For this purpose， multi-source data were acquired through geological and geomorphological surveys， recognition of landslide-induced damage on the built environment， subsurface investigations (e.g.， continuous drill boreholes， Standard Penetration Test， Rock Quality Designation index and inclinometer monitoring)， laboratory tests (direct shear tests on undisturbed samples)， geophysical survey， and InSAR-derived map of deformation rates. The complete integration of multi-source data allowed for the construction of reliable landslide modelling with relative geotechnical properties. In addition， the cross-comparison between surface deformation data by SAR images and severity damage level collected on the exposed buildings enabled to obtain the vulnerability map of the built area. In particular， the achieved goals highlighted two failure surfaces at about -13 and -25 m depth， causing a high vulnerability value for the buildings allocated in the central portion of the Rota Greca village. The knowledge acquired by the multi-approach can be used to manage and implement appropriate landslide risk mitigation strategies， providing helpful advice and best practices to state-run organisations and stakeholder

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Low-Cost and Biodegradable Thermoelectric Devices Based on van der Waals Semiconductors on Paper Substrates

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Energy & Environmental materials 2024年第1期7卷 201-206页

作者： Gulsum Ersu Carmen munuera federico J.mompean Daniel Vaquero Jorge Quereda João Elias F.S.Rodrigues Jose A.Alonso Eduardo Flores Jose R.Ares Isabel J.Ferrer Abdullah m.Al-Enizi Ayman Nafady Sruthi Kuriakose Joshua O.Island Andres Castellanos-Gomez materials Science Factory Instituto de Ciencia de Materiales de Madrid(ICMM-CSIC)Madrid E-28049Spain Nanotechnology Group USAL-NanolabUnivesidad de SalamancaSalamanca Junta de Castilla y León 37007Spain GISC Departamento de Física de MaterialesUniversidad Complutense de MadridMadrid E-28040Spain Departamento de Física Aplicada Centro de Investigación y Estudios AvanzadosMérida 97310Mexico mIRE Group Departamento de Física de MaterialesUniversidad Autónoma de MadridMadrid E-28049Spain Instituto Nicolás Cabrera Universidad Autónoma de MadridMadrid E-28049Spain Department of Chemistry College of ScienceKing Saud UniversityRiyadh 11451Saudi Arabia Department of Physics and Astronomy University of Nevada Las VegasLas Vegas NV 89154USA

We present a method to fabricate handcrafted thermoelectric devices on standard office paper *** devices are based on thin films of WS_(2),Te,and BP(P-type semiconductors)and TiS_(3)and TiS_(2)(N-type semiconductors),deposited by simply rubbing powder of these materials against *** thermoelectric properties of these semiconducting films revealed maximum Seebeck coefficients of(+1.32±0.27)mV K^(-1)and(-0.82±0.15)mV K^(-1)for WS_(2)and TiS_(3),***,Peltier elements were fabricated by interconnecting the P-and N-type films with graphite electrodes.A thermopower value up to 6.11 mV K^(-1)was obtained when the Peltier element were constructed with three *** findings of this work show proof-of-concept devices to illustrate the potential application of semiconducting van der Waals materials in future thermoelectric power generation as well as temperature sensing for low-cost disposable electronic devices.

关键词： paper-based electronics Seebeck effect semiconductors thermoelectrics van der Waals materials

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Differential Expression of Genes Related to Fruit Development and Capsaicinoids Synthesis in Habanero Pepper Plants Grown in Contrasting Soil Types

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Phyton-International Journal of Experimental Botany 2024年第2期93卷 151-183页

作者： Eduardo Burgos-Valencia federico García-Laynes Ileana Echevarría-machado Fatima medina-Lara miriam monforte-González JoséNarváez-Zapata manuel martínez-Estévez Unidad de Bioquímica y Biología molecular de Plantas Centro de Investigación Científica de YucatánCalle 43#130Chuburnáde HidalgoMéridaYucatán97205México Instituto Politécnico Nacional-Centro de Biotecnología Genómica Blvd Del Maestro esq.Elias PiñaReynosaTamaulipas88710México

Habanero pepper(Capsicum chinense Jacq.)is a crop of economic relevance in the Peninsula of *** fruits have a high level of capsaicinoids compared to peppers grown in other regions of the world,which gives them industrial *** is an important factor that affects pepper development,nutritional quality,and capsaicinoid ***,the effect of soil type on fruit development and capsaicinoid metabolism has been little *** work aimed to compare the effect of soils with contrasting characteristics,black soil(BS)and red soil(RS),on the expression of genes related to the development of fruits,and capsaicinoid synthesis using a transcriptomic analysis of the habanero pepper *** growing in RS had bigger fruits and higher expression of genes related to floral development,fruit abscission,and softening which suggests that RS stimulates fruit development from early stages until maturation *** from plants growing in BS had enrichment in metabolic pathways related to growth,sugars,and ***,these fruits had higher capsaicinoid accumulation at 25 days post-anthesis,and higher expression of genes related to the branched-chain amino acids metabolism(ketol-acid reductisomerase KARI),pentose phosphate pathway and production of NADPH(glucose-6-phosphate-1-dehydrogenase G6PDH),and proteasome and vesicular traffic in cells(26S proteasome regulatory subunit T4 RPT4),which suggest that BS is better in the early stimulation of pathways related to the nutritional quality and capsaicinoid metabolism in the fruits.

关键词： Capsicum chinense jacq soil types plant growth environmental conditions fruit quality capsaicinoid metabolism transcriptome

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multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa maria Jose Curras-Tuala Sara Pischedda miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian montoto-Louzao Alba Camino-mera Isabel Ferreiros-Vidal maximo Fraga Jose RAntunez Rodolfo Gomez federico martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Tuning of frictional properties in torsional contact by means of disk grading

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Friction 2022年第5期10卷 787-802页

作者： Gianluca COSTAGLIOLA federico BOSIA Nicola m PUGNO Civil Engineering Institute Ecole Polytechmique Federale de LausamneLausanne 1015Switzerland Department ofApplied Science and Technology Politecnico di TorinoCorso Duca degli Abruzzi 24Torino 10129Italy Laboratory for BioinspiredBionicNanoMeta Materials&MechanicsDepartment of CivilEnvironmental and Mechanical EngineeringUniversity of TrentoTrento 38123Italy School of Engineering and materials Science Queen Mary University of LondonLondon EI 4NSUK

The contact of two surfaces in relative rotating motion occurs in many practical applications,from mechanical devices to human joints,displaying an intriguing interplay of effects at the onset of sliding due to the axisymmetric stress *** and numerical models have been developed for some typical configurations,but work remains to be done to understand how to modify the emergent friction properties in this *** this paper,we extend the two-dimensional(2D)spring-block model to investigate friction between surfaces in torsional *** investigate how the model describes the behavior of an elastic surface slowly rotating over a rigid substrate,comparing results with analytical calculations based on energy *** show that an appropriate grading of the tribological properties of the surface can be used to avoid a non-uniform transition to sliding due to the axisymmetric configuration.

关键词： friction torsion numerical simulations grading

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Oxidized organic molecules in the tropical free troposphere over Amazonia

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National Science Review 2024年第1期11卷 174-184页

作者： Qiaozhi Zha Diego Aliaga Radovan Krejci Victoria A.Sinclair Cheng Wu Giancarlo Ciarelli Wiebke Scholz Liine Heikkinen Eva Partoll Yvette Gramlich Wei Huang markus Leiminger Joonas Enroth Otso Per?kyl? Runlong Cai Xuemeng Chen Alkuin maximilian Koenig Fernando Velarde Isabel moreno Tuukka Pet?j? Paulo Artaxo Paolo Laj Armin Hansel Samara Carbone markku Kulmala marcos Andrade Douglas Worsnop Claudia mohr federico Bianchi Institute for Atmospheric and Earth System Research/Physics University of Helsinki Joint International Research Laboratory of Atmospheric and Earth System Sciences Nanjing University Department of Environmental Science & Bolin Centre for Climate Research Stockholm University Department of Chemistry and molecular Biology University of Gothenburg Institute for Ion and Applied Physics University of Innsbruck Ionicon Analytik GmbH Laboratory for Atmospheric Physics Institute for Physics Research Universidad Mayor de San Andrés Institute of Physics University of Sao Paulo Institute for Geosciences and Environmental Research (IGE) University of Grenoble Alpes Agrarian Sciences Institute Federal University of Uberl?ndia Beijing Advanced Innovation Center for Soft matter Science and Engineering Beijing University of Chemical Technology Department of Atmospheric and Oceanic Sciences University of Maryland Aerodyne Research Inc. Department of Environmental System Science ETH Zürich Switzerland and Laboratory of Atmospheric Chemistry Paul Scherrer Institute

New particle formation(NPF) in the tropical free troposphere(FT) is a globally important source of cloud condensation nuclei, affecting cloud properties and climate. Oxidized organic molecules(OOms)produced from biogenic volatile organic compounds are believed to contribute to aerosol formation in the tropical FT, but without direct chemical observations. We performed in situ molecular-level OOms measurements at the Bolivian station Chacaltaya at 5240 m above sea level, on the western edge of Amazonia. For the first time, we demonstrate the presence of OOms, mainly with 4–5 carbon atoms, in both gas-phase and particle-phase(in terms of mass contribution) measurements in tropical FT air from Amazonia. These observations, combined with air mass history analyses, indicate that the observed OOms are linked to isoprene emitted from the rainforests hundreds of kilometers away. Based on particle-phase measurements, we find that these compounds can contribute to NPF, at least the growth of newly formed nanoparticles, in the tropical FT on a continental scale. Thus, our study is a fundamental and significant step in understanding the aerosol formation process in the tropical FT.

关键词： oxidized organic molecules tropical aerosol formation Amazon free troposphere

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Design of a large-scale model for wind tunnel test of a multiadaptive flap concept

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Chinese Journal of Aeronautics 2024年第2期37卷 58-80页

作者： mürüvvet Sinem SICIm DEmIRCI Rosario PECORA metin Orhan KAYA Aeronautical Engineering Department Istanbul Technical UniversityIstanbulTurkey Industrial Engineering Department University of Naples Federico IINapoliItaly

The design and application of morphing systems are ongoing issues compelling the aviation *** Clean Sky-program represents the most significant aeronautical research ever launched in Europe on advanced technologies for greening next-generation *** primary purpose of the program is to develop new concepts aimed at decreasing the effects of aviation on the environment,increasing reliability,and promoting eco-friendly *** ambitions are pursued through research on enabling technologies fostering noise and gas emissions reduction,mainly by improving aircraft aerodynamic *** the Clean Sky framework,a multimodal morphing flap device was designed based on tight industrial requirements and tailored for large civil aircraft *** flap is deployed in one unique setting,and its cross section is morphed differently in take-off and landing to get the necessary extra lift for the specific flight ***,during the cruise,the tip of the flap is deflected for load control and induced drag *** manufacturing the first flap prototype,a high-speed(ma=0.3),large-scale test campaign(geometric scale factor 1:3)was deemed necessary to validate the performance improvements brought by this novel system at the aircraft *** the other hand,the geometrical scaling of the flap prototype was considered impracticable due to the unscalability of the embedded mechanisms and actuators for shape ***,a new architecture was conceived for the flap model to comply with the scaled dimensions requirements,withstand the relevant loads expected during the wind tunnel tests and emulate the shape transition capabilities of the true-scale *** strategies were developed to effectively morph the model during wind tunnel tests while ensuring the robustness of each morphed configuration and maintaining adequate stiffness levels to prevent undesirable deviations from the intended aerodynamic ***,

关键词： morphing structures Smart aircraft morphing flap Adaptive systems Finger-like ribs Wind tunnel tests Large-scale morphing archi-tectures Variable camber airfoil

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