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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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Patterns of grassland invasions by trees: insights from demographic and genetic spatial analyses

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Journal of Plant Ecology 2015年第5期8卷 468-479页

作者： martin Dovčiak richard Hrivnák Karol Ujházy Dušan Gömöry State University of New York College of Environmental Science and Forestry(SUNY ESF)1 Forestry DriveSyracuseNY 13210USA Institute of Botany Slovak Academy of SciencesDúbravskácesta 9Bratislava 84523Slovakia Technical University in Zvolen Faculty of ForestryT.G.Masaryka 24Zvolen 96053Slovakia

Aims Woody invasions into grasslands have increased globally due to changing land use,climate and introduced woody species,but spatial processes generating and sustaining these invasions are not well *** gain insight into the patterns of spread of tree populations within grasslands,and to propose a full spatial analytical toolbox for studying native and non-native woody spe-cies spread when long-term data are not available,we tested if 50 years of grassland invasion in Western Carpathians by Norway spruce(Picea abies Karst.)proceeded by one of the two tradi-tionally competing hypotheses of species spread:(i)by frontier expansion,or(ii)by advanced groups established ahead of the population *** also tested whether the pattern of invasion changed over *** We analyzed the spatial demographic and genetic patterns of a Norway spruce population invading a Western Carpathian grass-land using ripley’s L(t)and genetic kinship coefficients(Fij).We mapped and genotyped spruce trees across the invasion front(from the invasion leading edge to fully colonized grassland near the source population)using three demographic classes(adults,juve-niles and seedlings)to approximate the temporal aspects of the *** studied how the spatial patterns of invasion by indi-vidual demographic classes and their genetic kinship varied among adjacent plots established at different distances from the source population(ranging from 0 to 160 m,in 40-m distance increments).Important Findings Juveniles were positively genetically related to adults on fine scales(m),suggesting that adults within the grassland acted as a seed source and accelerated early ***,adults did not act as nucleation centers for the formation of advanced juvenile ***,geneti-cally unrelated juveniles formed groups independently of *** groups were small and separate at the leading edge but they increased in size and graded into a continuous zone near the source popul

关键词： genetic spatial structure mountain meadows point pattern analysis population structure secondary succession

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Expansion of GARP-Expressing CD4^(+)CD25^(-)FoxP3^(+)T Cells and SATB1Association with Activation and Coagulation in Immune Compromised HIV-1-Infected Individuals in South Africa

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Virologica Sinica 2021年第5期36卷 1133-1143页

作者： Eman Teer Danzil E.Joseph Leanne Dominick richard H.Glashoff m.Faadiel Essop Centre for Cardio-metabolic Research in Africa(CARmA) Department of Physiological SciencesStellenbosch UniversityStellenbosch 7600South Africa Division of medical microbiology and Immunology Department of PathologyStellenbosch University and NHLSCape Town 7505South Africa

Although antiretroviral treatment lowers the burden of human immunodeficiency virus(HIV)-related disease,it does not always result in immunological *** manifests as persistent chronic inflammation,immune activation or exhaustion that can promote the onset of *** the exact function of regulatory T(Treg)cells in HIV remains unclear,this cross-sectional study investigated three expression markers(Forkhead box protein P3[FOXP3],glycoprotein A repetitions predominant[GARP],special AT-rich sequence binding protein 1[SATB1])and compared their expansion between CD4^(+)CD25^(-)and CD4^(+)CD25^(++)T ***-matched study subjects were recruited(Western Cape,South Africa)and sub-divided:HIV-negative subjects(n=12),HIV-positive na(i|")ve treated(n=22),HIV-positive treated based on CD4 count cells/μL(CD4>500 and CD4mL(VL1000)(n=34).markers of immune activation(CD38)and coagulation(CD142)on T cells(CD8)were assessed by flow cytometry together with FOXP3,GARP and SATB1 expression on CD4^(+)CD25^(-)and CD4^(+)CD25^(++)T *** levels of interleukin-10(IL-10;anti-inflammatory marker),IL-6(inflammatory marker)and D-dimer(coagulation marker)were *** study revealed three major findings in immuno-compromised patients with virological failure(CD41000):(1)the expansion of the unconventional Treg cell subset(CD4^(+)CD25^(-)FOXP3^(+))is linked with disease progression markers;(2)increased GARP expression in the CD4^(+)CD25^(-)and CD4^(+)CD25^(++)subsets;and(3)the identification of a strong link between CD4^(+)CD25^(-)SATB1+cells and markers of immune activation(CD8^(+)CD38^(+))and coagulation(CD8^(+)CD142^(+)and D-dimer).

关键词： Human immunodeficiency virus(HIV) Regulatory T cells(Treg) Immune activation Progression markers Glycoprotein A repetitions predominant(GARP) Forkhead box protein P3(FOXP3)

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Computational synthesis of substrates by crystal cleavage

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npj Computational materials 2021年第1期7卷 1336-1341页

作者： Joshua T.Paul Alice Galdi Christopher Parzyck Kyle m.Shen Jared maxson richard G.Hennig Department of materials Science and Engineering University of FloridaGainesvilleFLUSA Quantum Theory Project University of FloridaGainesvilleFLUSA Department of Physics Cornell UniversityIthacaNYUSA Cornell Laboratory for Accelerator-Based Sciences and Education Cornell UniversityIthacaNYUSA

The discovery of substrate materials has been dominated by trial and error,opening the opportunity for a systematic *** generate bonding networks for materials from the materials Project and systematically break up to three bonds in the networks for three-dimensional *** cleavage reduces the bonding network to two periodic *** identify 4693 symmetrically unique cleavage surfaces across 2133 bulk crystals,4626 of which have a maximum miller index of *** characterize the likelihood of cleavage by creating monolayers of these surfaces and calculating their thermodynamic stability using density functional theory to discover 3991 potential ***,we identify distinct trends in the work of cleavage and relate them to bonding in the three-dimensional *** illustrate the potential impact of the substrate database by identifying several improved epitaxial substrates for the transparent conductor *** open-source databases of predicted and commercial substrates are available at ***.

关键词： cleavage bonding synthesis

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Diversification of Sisorid catfishes(Teleostei: Siluriformes)in relation to the orogeny of the Himalayan Plateau

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Science Bulletin 2016年第13期61卷 991-1002页

作者： Chuanjiang Zhou Xuzhen Wang Xiaoni Gan Yaping Zhang David m.Irwin richard L.mayden Shunping He Key Laboratory of Aquatic Biodiversity and Conservation of Chinese Academy of Sciences Institute of HydrobiologyChinese Academy of Sciences Key Laboratory of Freshwater Fish Reproduction and Development (Southwest University) Ministry of EducationSchool of Life Science Southwest University State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences College of Fisheries Henan Normal University Department of Laboratory medicine and Pathobiology University of Toronto Banting and Best Diabetes Centre University of Toronto Department of Biology 3507 Laclede Ave. Saint Louis University

Abstract Sisorid catfishes are primarily limited in distribution to rivers of the Himalayan region and Tibetan Plateau. These species have external morphologies that are adapted for extremely fast-flowing riverine systems. Given the diversity of the group and the above qualities of these catfishes, this lineage serves as an ideal group for inferring the geological history of this region based on their phylogenetic relationships reflecting evolu- tionary history. We sequenced the complete mitochondrial genome and four nuclear genes of representative sisorids distributed across river systems in China. Phylogenetic analyses strongly support the monophyly of the Sisoridae and the glyptosternoids. An analysis of the reconstructed ancestral states derived from inferred genealogical relationships suggests that the evolution of this lineage was accompanied by convergent evolution in morphological traits that were presumably in response to environmental pressure involving the rapid flowing river system that were generated during the uplift of the Tibetan Plateau （UTP）. molecular dating indicates that the Chinese sisorids and the glyptosternoids originated at the later miocene （~ 10.9-9.8 mya）, and with further biogeographic analyses indicates that the species of Sisoridae likely originated from a widely distributed ancestor. moreover, the divergence of the Sisoridae in China can be divided into two phases consis- tent with the UTP. All of these results indicate that the diversification and dispersal events in this lineage occurred as a result of drainage systems formed during and after the UTP in the late miocene and Quaternary periods.

关键词： Phylogeny. Diversification and dispersal.Biogeography - Divergence time estimation ~ TibetanPlateau ~ Sisoridae ~ Catfish

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Relativistic domain-wall dynamics in van der Waals antiferromagnet mnPS_(3)

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npj Computational materials 2022年第1期8卷 27-35页

作者： Ignacio m.Alliati richard F.L.Evans Kostya S.Novoselov Elton J.G.Santos School of mathematics and Physics Queen’s University BelfastBelfastBT71NNUK Department of Physics The University of YorkYorkYO105DDUK Institute for Functional Intelligent materials National University of SingaporeSingapore117544Singapore Institute for Condensed matter Physics and Complex Systems School of Physics and AstronomyThe University of EdinburghEdinburghEH93FDUK Higgs Centre for Theoretical Physics The University of EdinburghEdinburghEH93FDUK

The discovery of two-dimensional(2D)magnetic van der Waals(vdW)materials has flourished an endeavor for fundamental problems as well as potential applications in computing,sensing and storage *** particular interest are antiferromagnets,which due to their intrinsic exchange coupling show several advantages in relation to ferromagnets such as robustness against external magnetic *** we show that,despite of this cornerstone,the magnetic domains of recently discovered 2D vdW mnPS_(3)antiferromagnet can be controlled via magnetic fields and electric *** achieve ultrafast domain-wall dynamics with velocities up to~3000 m s^(−1)within a relativistic *** contraction and emission of spin-waves in the terahertz gap are observed with dependence on the edge termination of the *** results indicate that the implementation of 2D antiferromagnets in real applications can be further controlled through edge engineering which sets functional characteristics for ultrathin device platforms with relativistic features.

关键词： relativistic dynamics antiferromagnet

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A comparison of the relative efficiency of ICSI and extended culture with epididymal sperm versus testicular sperm in patients with obstructive azoospermia

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Asian Journal of Andrology 2020年第2期22卷 222-226页

作者： Scott J morin Brent m Hanson Caroline R Juneau Shelby A Neal Jessica N Landis richard T Scott Jr James m Hotaling Reproductive medicine Associates of New Jersey 140 Allen RoadBasking RidgeNJ 07920USA Division of Reproductive Endocrinology and Infertility Department of Obstetrics and GynecologySidney Kimmel Medical College at Thomas Jefferson University833 Chestnut StreetPhiladelphiaPA 19107USA Foundation for Embryonic Competence 140 Allen RoadBasking RidgeNJ 07920USA Division of Urology Department of SurgeryUniversity of Utah School of Medicine30 N 1900 ESalt Lake CityUT 84132USA Department of Obstetrics and Gynecology University of Utah School of Medicine30 N 1900 ESalt Lake CityUT 84132USA.An abbreviated version of this manuscript was published and presented as an abstract at the American Society for Reproductive Medicine(ASRM)2017 Scientific Congress.

This is a retrospective cohort study comparing blastocyst transfer outcomes following intracytoplasmic sperm injection utilizing epididymal versus testicular sperm for men with obstructive *** cases at a single center between 2012 and 2016 were *** approach was selected at the surgeon’s discretion and included microepididymal sperm aspiration or testicular sperm *** culture was exclusively utilized prior to *** primary outcome was live birth *** outcomes included fertilization rate,blastulation rate,euploidy rate,and implantation rate.A mixed effects model was ***-six microepididymal sperm aspiration cases and 93 testicular sperm extraction cases were *** live birth rate was equivalent(48.6%vs 50.5%,P=0.77).However,on mixed effects model,epididymal sperm resulted in a greater likelihood of fertilization(adjusted OR:1.37,95%CI:1.05–1.81,P=0.02)and produced a higher blastulation rate(adjusted OR:1.41,95%CI:1.1–1.85,P=0.01).As a result,the epididymal sperm group had more supernumerary blastocysts available(4.3 vs 3,Pmic sperm injection following microepididymal sperm aspiration resulted in a greater number of usable blastocysts per ***,the true benefit of epididymal sperm may only be demonstrated via a comparison of cumulative pregnancy rates after multiple transfers from one cohort.

关键词： azoospermia intracytoplasmic sperm injection male infertility testicular sperm extraction

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mafic Archean continental crust prohibited exhumation of orogenic UHP eclogite

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Geoscience Frontiers 2021年第5期12卷 411-420页

作者： richard m.Palin James D.P.moore Zeming Zhang Guangyu Huang Jon Wade Brendan Dyck Department of Earth Sciences University of OxfordOxford OX13ANUnited Kingdom Earth Observatory of Singapore Nanyang Technological UniversitySingapore Institute of Geophysics SGEESVictoria University of WellingtonWellingtonNew Zealand Institute of Geology Chinese Academy of Geological SciencesBeijing 100037China State Key Laboratory of Lithospheric Evolution Institute of Geology and GeophysicsChinese Academy of SciencesBeijing 100029China Department of Earth Environmental and Geographical SciencesUniversity of British ColumbiaKelowna V1V 1V7Canada

The absence of ultrahigh pressure(UHP)orogenic eclogite in the geological record older than c.0.6 Ga is problematic for evidence of subduction having begun on Earth during the Archean(4.0-2.5 Ga).many eclogites in Phanerozoic and Proterozoic terranes occur as mafic boudins encased within low-density felsic crust,which provides positive buoyancy during subduction;however,recent geochemical proxy analysis shows that Archean continental crust was more mafic than previously thought,having greater proportions of basalt and komatiite than modern-day ***,we show via petrological modelling that secular change in the petrology and bulk composition of upper continental crust would make Archean continental terranes negatively buoyant in the mantle before reaching UHP *** or delaminated Archean continental crust passes a point of no return during metamorphism in the mantle prior to the stabilization of coesite,while Proterozoic and Phanerozoic terranes remain positively buoyant at these *** orogenic eclogite may thus readily have formed on the Archean Earth,but could not have been exhumed,weakening arguments for a Neoproterozoic onset of subduction and plate ***,isostatic balance calculations for more mafic Archean continents indicate that the early Earth was covered by a global ocean over 1 km deep,corroborating independent isotopic evidence for large-scale emergence of the continents no earlier than c.3 *** findings thus weaken arguments that early life on Earth likely emerged in shallow subaerial ponds,and instead support hypotheses involving development at hydrothermal vents in the deep ocean.

关键词： Archean Eclogite Exhumation Secular change Geodynamics Density

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Defining strawberry shape uniformity using 3D imaging and genetic mapping

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Horticulture Research 2020年第1期7卷 1126-1138页

作者： Bo Li Helen m.Cockerton Abigail WJohnson Amanda Karlström Eleftheria Stavridou Greg Deakin richard J.Harrison NIAB EmR East MallingKent ME196BJUK University of the West of England Bristol BS161QYUK NIAB Huntingdon RoadCambridge CB30LEUK

Strawberry shape uniformity is a complex trait,influenced by multiple genetic and environmental *** complicate matters further,the phenotypic assessment of strawberry uniformity is confounded by the difficulty of quantifying geometric parameters‘by eye’and variation between *** in-depth genetic analysis of strawberry uniformity has not been undertaken to date,due to the lack of accurate and objective ***,uniformity remains one of the most important fruit quality selection criteria for the development of a new *** this study,a 3D-imaging approach was developed to characterise berry shape *** show that circularity of the maximum circumference had the closest predictive relationship with the manual uniformity *** five or six automated metrics provided the best predictive model,indicating that human assessment of uniformity is highly ***,visual assessment of strawberry fruit quality in a multi-parental QTL mapping population has allowed the identification of genetic components controlling uniformity.A“regular shape”QTL was identified and found to be associated with three uniformity *** QTL was present across a wide array of germplasm,indicating a potential candidate for marker-assisted breeding,while the potential to implement genomic selection is explored.A greater understanding of berry uniformity has been achieved through the study of the relative impact of automated metrics on human perceived ***,the comprehensive definition of strawberry shape uniformity using 3D imaging tools has allowed precision phenotyping,which has improved the accuracy of trait quantification and unlocked the ability to accurately select for uniform berries.

关键词： straw breeding shape

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Probiotic effects on intestinal fermentation patterns in patients with irritable bowel syndrome

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World Journal of Gastroenterology 2008年第32期14卷 5020-5024页

作者： Jacqueline S Barrett Kim EK Canale richard B Gearry Peter m Irving Peter R Gibson monash University Department of Medicine and Department of Gastroenterology Box Hill Hospital

AIm： To determine whether Lactobacillus casei strain Shirota （Yakult） can alter small intestinal bacterial overgrowth （SIBO）, as tested by the lactulose breath test, and whether this is associated with changes in symptoms in irritable bowel syndrome （IBS）. mETHODS： 18 patients with IBS （Rome Ⅱ criteria）, who showed an early rise in breath hydrogen with lactulose （ERBHAL）, consumed 65 mL of Yakult daily for 6 wk. Lactulose breath test was repeated at the end of the treatment period. Symptoms were recorded daily using a 10 cm visual analogue scale. RESULTS： 14 patients completed the study, 9 （64%） had reversal of ERBHAL, with the median time of first rise in breath hydrogen increasing from 45 to 75 min （P = 0.03）. There was no significant improvement in the symptom score with probiotic therapy, except for wind （P = 0.04）. Patients commencing with at least moderate symptoms and who no longer had ERBHAL at the end of treatment, showed improvement in the overall symptoms scores [median final score 5.3 （IQR 3.9-5.9）, 55% reduction; n = 6] to a greater extent than those who had had persisting ERBHAL [final score 6.9 （5.0-7.0）, 12% reduction; n = 5; P = 0.18]. CONCLUSION： Yakult is effective in altering fermentation patterns in the small bowel, consistent with reducing SIBO. The loss of ERBHAL was associated with reduced symptoms. The true interpretation of these findings awaits a randornised, controlled trial.

关键词： Probiotics Small intestinal bacterial overgrowth Breath hydrogen testing Functional gut symptoms

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