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Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets 被引量:1
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作者 Tao Liu Fazal Rahim +15 位作者 Meng-Lei Yang Meftah Uddin Jing-Wei Ye Imtiaz Ali Yousaf Raza Abu Mansoor Muhammad Shoaib Mujahid Hussain Ihsan Khan Basit Shah Asad Khan Ahmad Nisar Hui Ma Bo Xu Wasim Shah Qing-Hua Shi 《Asian Journal of Andrology》 2025年第2期245-253,共9页
Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play p... Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement.Mammalian sperm-associated antigen 17(SPAG17)encodes a conserved axonemal protein of cilia and flagella,forming part of the C1a projection of the central apparatus,with functions related to ciliary/flagellar motility,skeletal growth,and male fertility.This study investigated two novel homozygous SPAG17 mutations(M1:NM_206996.2,c.829+1G>T,p.Asp212_Glu276del;and M2:c.2120del,p.Leu707*)identified in four infertile patients from two consanguineous Pakistani families.These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa.Quantitative real-time polymerase chain reaction(PCR)of patients’spermatozoa also revealed a significant decrease in SPAG17 mRNA expression,and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella.However,no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients.Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls.Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17(SPATA17),a component of the C1a projection,and sperm-associated antigen 6(SPAG6),a marker of the spring layer,revealed disrupted expression of both proteins in the patients’spermatozoa.Altogether,these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme,expanding the phenotypic spectrum of SPAG17 mutations in humans. 展开更多
关键词 C1a projection central apparatus male infertility multiple morphological abnormalities of the flagella SPAG17
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Morphological characteristics and evolution of stream potholes in the Quanfengtan reach of the Lower Zijiang River,Hunan Province,China
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作者 CHEN Linhong LIU Fenliang +3 位作者 DING Nan HUANG Junhua LIU Yu’ang GAO Hongshan 《Journal of Mountain Science》 2025年第10期3564-3578,共15页
This study investigates the morphological characteristics and evolutionary mechanisms of stream potholes in the granodiorite riverbed of the Quanfengtan reach,located in the lower Zijiang River,Hunan Province,China.Fi... This study investigates the morphological characteristics and evolutionary mechanisms of stream potholes in the granodiorite riverbed of the Quanfengtan reach,located in the lower Zijiang River,Hunan Province,China.Field surveys and statistical analyses reveal that these potholes exhibit diverse geometries(calibers:0.2-2.5 m;depths:0.03-1.98 m;depth-to-caliber ratios:0.08-1.63),predominantly elliptical and shallow,reflecting distinct developmental stages.These potholes show no spatial correlation with bedrock joints,and their long-axis orientations diverge from dominant joint trends.Instead,they exhibit consistent alignment with the river’s prevailing flow direction.Furthermore,pothole dimensions(e.g.,depth and diameter)strongly correlate with gravel size,indicating sediment-driven abrasion as the primary formation mechanism.The uplift of the Xuefeng Mountains relative to the Dongting Basin since the Late Quaternary,which drove the incision of the lower Zijiang River,transforming it from an alluvial channel to a bedrock-dominated channel,is the primary precondition enabling pothole development in this region.Additionally,the influence of climatic factors and human activities cannot be overlooked.The progressive formation,coalescence,and evolution of potholes into grooves constitute the primary mechanism driving riverbed erosion by the Zijiang River at Quanfengtan. 展开更多
关键词 POTHOLE morphological characteristics Quanfengtan Zijiang River
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A revised classification of Dryopteridaceae based on plastome phylogenomics and morphological evidence,with the description of a new genus,Pseudarachniodes
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作者 Zheng-Yu Zuo Germinal Rouhan +4 位作者 Shi-Yong Dong Hong-Mei Liu Xin-Yu Du Li-Bing Zhang Jin-Mei Lu 《Plant Diversity》 2025年第1期34-52,共19页
Dryopteridaceae are the largest fern family and include nearly 20%of extant fern diversity,with 24 currently recognized genera.Recognition and delineation of genera within this family have varied greatly.The three-sub... Dryopteridaceae are the largest fern family and include nearly 20%of extant fern diversity,with 24 currently recognized genera.Recognition and delineation of genera within this family have varied greatly.The three-subfamily classification of Dryopteridaceae was based primarily on molecular phylogenetic relationships but lacked morphological evidence,and the phylogenetic relationships of the subfamilies and genera of Dryopteridaceae are only partially resolved.A comprehensive and robust phylogeny is urgently needed.The heterogeneous morphology of the current members of Dryopteridaceae makes the family and its subfamilies difficult to define by single morphological characteristics or even character combinations.We carried out phylogenetic analyses to reconstruct a highly supported phylogeny of Dryopteridaceae.Our analyses recovered 24 strongly supported clades grouped into seven major clades of Dryopteridaceae.Seven morphological characters including habit,rhizome shape,frond morphology,rachis-costae architecture,appendages on stipe base and lamina,and soral arrangement were found to be informative for identifying different major clades and clades in Dryopteridaceae.Based on phylogenetic reconstruction and morphological analysis,we presented an updated infra-familial classification of Dryopteridaceae with seven subfamilies and 24 genera including four newly proposed subfamilies(Ctenitidoideae,Lastreopsidoideae,Pleocnemioideae,and Polystichopsidoideae).Morphological character combinations of each subfamily are summarized,and a key is provided.Most genera sensu PPG I are recognized,with Stigmatopetris reclassified into Dryopteridoideae and Arthrobotrya considered a synonym of Teratophyllum.A new genus Pseudarachniodes is introduced.This revised classification will serve as a foundational framework for future investigations on taxonomy,biogeography,and diversification of the most species-rich Dryopteridaceae in ferns. 展开更多
关键词 Ctenitidoideae Infra-familial morphological diagnostic characters PHYLOGENOMICS Rachis-costae architecture Stigmatopetris
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Morphological Variation in Sichuan Spiny Frogs Along Geographic and Environmental Gradients
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作者 Jiahui SUN Haoxian LIN +1 位作者 Hong LI Junhua HU 《Asian Herpetological Research》 2025年第1期66-74,共9页
Understanding the ecogeographic mechanisms driving morphological variation is pivotal in biogeographic studies. However, patterns and determinants of such variation remain contentious, particularly in amphibians. Alth... Understanding the ecogeographic mechanisms driving morphological variation is pivotal in biogeographic studies. However, patterns and determinants of such variation remain contentious, particularly in amphibians. Although several hypotheses have been formulated and investigated in amphibians, their validity remains disputed with mixed support. Using the Sichuan spiny frog(Nanorana sichuanensis) as an indicator, we investigated the morphological variations across geographic and environmental gradients to explore the underlying ecogeographic mechanisms. We found that both the body size and limb characteristics of N.sichuanensis were not significantly related to latitude or elevation, suggesting that it did not follow Bergmann's or Allen's rules. Eye diameter decreased linearly with increasing elevation and latitude, whereas snout length increased with increasing elevation and latitude. Heat balance, endurance, seasonality, water availability, and primary productivity collectively explain body size variation. Hierarchical partitioning identified primary productivity and thermal excursion as the most influential factors, explaining significant variability in body size and other morphological features. Specifically, primary productivity accounted for 52.40% of the variation in body size, whereas thermal excursion had the greatest impact on eye diameter(36.23%) and snout length(72.17%). Based on body size and dimensionally reduced morphological features, our results identified ecogeographic patterns, assessed the validity of different hypotheses, and examined how environmental factors influence these morphological variations. More generally, our study offers comprehensive insights into the ecogeographic variation observed in mountain amphibians,provides a critical evaluation of existing ecogeographic hypotheses, and infers possible morphological adaptations in response to environmental change. 展开更多
关键词 Allen's rule Bergmann's rule ecogeographic rule environmental gradients morphological variation Nanorana sichuanensis
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Cortical Morphological Networks Difer Between Gyri and Sulci
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作者 Qingchun Lin Suhui Jin +4 位作者 Guole Yin Junle Li Umer Asgher Shijun Qiu Jinhui Wang 《Neuroscience Bulletin》 2025年第1期46-60,共15页
This study explored how the human cortical folding pattern composed of convex gyri and concave sulci afected single-subject morphological brain networks,which are becoming an important method for studying the human br... This study explored how the human cortical folding pattern composed of convex gyri and concave sulci afected single-subject morphological brain networks,which are becoming an important method for studying the human brain connectome.We found that gyri-gyri networks exhibited higher morphological similarity,lower small-world parameters,and lower long-term test-retest reliability than sulci-sulci networks for cortical thickness-and gyrifcation index-based networks,while opposite patterns were observed for fractal dimension-based networks.Further behavioral association analysis revealed that gyri-gyri networks and connections between gyral and sulcal regions signifcantly explained inter-individual variance in Cognition and Motor domains for fractal dimension-and sulcal depth-based networks.Finally,the clinical application showed that only sulci-sulci networks exhibited morphological similarity reductions in major depressive disorder for cortical thickness-,fractal dimension-,and gyrifcation index-based networks.Taken together,these fndings provide novel insights into the constraint of the cortical folding pattern to the network organization of the human brain. 展开更多
关键词 morphological connectivity Magnetic resonance imaging Test-retest reliability Cortical folding Graph theory
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First report of Culex(Lophoceraomyia)cinctellus in Sri Lanka:Evidence from morphological and molecular analysis
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作者 Pramitha Rangana Gayan Kumarasinghe +4 位作者 Nalin Jayasinghe Wardha Refai Lahiru Udayanga Tharaka Ranathunge Thissa Karunarathne 《Asian Pacific Journal of Tropical Medicine》 2025年第4期165-172,共8页
Objective:To confirm the presence of Culex(Cx.)(Lophoceraomyia)cinctellus in Sri Lanka using morphological and molecular evidence.Methods:From October 2019 to April 2020,mosquito surveillance was conducted fort-nightl... Objective:To confirm the presence of Culex(Cx.)(Lophoceraomyia)cinctellus in Sri Lanka using morphological and molecular evidence.Methods:From October 2019 to April 2020,mosquito surveillance was conducted fort-nightly in the Banduragoda Public Health Inspector area.Larvae were collected using standard siphoning methods,while adults were sampled using Cattle Baited Trap,Gravid Traps,Light Traps,Bird-Baited Traps,Dog Baited Traps,and diurnal human landing collections.Specimens were transported to the Entomology Laboratory at the Medical Research Institute for identification.Morphological identification was performed using standard taxonomic keys.Molecular confirmation was achieved through DNA sequencing of mosquito head and thoracic regions,followed by sequence analysis using NCBI BLAST and Geneious software(version 7.1.3).Results:Adults of Cx.cinctellus were identified in Bird-Baited Traps and human bait collections.Unique morphological characteristics,including well-developed pulvilli,wing vein 1A ending before the apex of cross vein mcu,basal transverse pale bands on abdominal terga,and two labial basal setae on the proboscis,confirmed species identity.Morphometric measurements included mean thoracic length(0.58±0.02)mm,thoracic width(0.63±0.02)mm,abdominal length(2.15±0.03)mm,abdominal width(0.61±0.01)mm,and wing length(2.91±0.02)mm.Molecular analysis corroborated the morphological identification,affirming the species as Cx.cinctellus.COI sequences of the collected specimen(452 bp)were confirmed as Cx.cinctellus for sequence identity by BLAST and BOLD analysis.These sequences were subsequently deposited in GenBank under the accession number OR225623.1.Conclusions:This study documents the first occurrence of Cx.cinctellus in Sri Lanka,highlighting the need to enhance entomological surveillance to monitor its dispersal and population dynamics. 展开更多
关键词 Culex cinctellus Entomological surveillance morphological identification Molecular confirmation Mosquito checklist Sri Lanka
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Machine learning model comparison and ensemble for predicting different morphological fractions of heavy metal elements in tailings and mine waste
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作者 FENG Yu-xin HU Tao +4 位作者 ZHOU Na-na ZHOU Min BARKHORDARI Mohammad Sadegh LI Ke-chao QI Chong-chong 《Journal of Central South University》 2025年第9期3557-3573,共17页
Driven by rapid technological advancements and economic growth,mineral extraction and metal refining have increased dramatically,generating huge volumes of tailings and mine waste(TMWs).Investigating the morphological... Driven by rapid technological advancements and economic growth,mineral extraction and metal refining have increased dramatically,generating huge volumes of tailings and mine waste(TMWs).Investigating the morphological fractions of heavy metals and metalloids(HMMs)in TMWs is key to evaluating their leaching potential into the environment;however,traditional experiments are time-consuming and labor-intensive.In this study,10 machine learning(ML)algorithms were used and compared for rapidly predicting the morphological fractions of HMMs in TMWs.A dataset comprising 2376 data points was used,with mineral composition,elemental properties,and total concentration used as inputs and concentration of morphological fraction used as output.After grid search optimization,the extra tree model performed the best,achieving coefficient of determination(R2)of 0.946 and 0.942 on the validation and test sets,respectively.Electronegativity was found to have the greatest impact on the morphological fraction.The models’performance was enhanced by applying an ensemble method to the top three optimal ML models,including gradient boosting decision tree,extra trees and categorical boosting.Overall,the proposed framework can accurately predict the concentrations of different morphological fractions of HMMs in TMWs.This approach can minimize detection time,aid in the safe management and recovery of TMWs. 展开更多
关键词 tailings and mine waste morphological fractions model comparison machine learning model ensemble
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Unveiling growth and morphological transition of Al_(3)Ni compounds during remelting cycles via synchrotron radiography
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作者 Jun-chao Yang Zong-ye Ding +8 位作者 Hai-bing Li Quan-bin Lu Yong-tao Jiu Jian Qin Peng Guo Kai Wang Chuan Liu Jian-guo Li Qiao-dan Hu 《Journal of Iron and Steel Research International》 2025年第10期3623-3634,共12页
The microstructural evolution at the liquid Al/solid Ni interface during remelting and resolidification was dynamically observed by using synchrotron radiography.The formation and growth behavior of Al_(3)Ni_(2) and A... The microstructural evolution at the liquid Al/solid Ni interface during remelting and resolidification was dynamically observed by using synchrotron radiography.The formation and growth behavior of Al_(3)Ni_(2) and Al_(3)Ni brittle intermetallic compounds(IMCs)under different conditions was investigated,and the formation mechanisms of dendritic Al_(3)Ni crystals with different morphologies were elucidated.The increasing remelting cycles accelerated the formation of Al_(3)Ni_(2) layer and the growth of Al_(3)Ni IMCs.The increased-step heating temperatures and time promoted the morphological transition from faceted to non-faceted dendritic Al_(3)Ni,which was attributed to the enhanced undercooling during solidification and incompletely remelted Al_(3)Ni IMCs during remelting.The growth of regular Al_(3)Ni dendrites was dominated by coalescence of secondary dendrite arms,while the growth of irregular dendrites Al_(3)Ni was controlled by dendrite merging,radial melting and axial melting of secondary arms.The axially free dendritic Al_(3)Ni was attributed to the small distance between adjacent main trunks,and the dense secondary arms promoted the formation of local solute depletion regions. 展开更多
关键词 Liquid/solid interface Intermetallic compounds Growth behavior morphological transition
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Morphological Characteristics of Local Chicken Populations (Gallus gallus domesticus) in Farmed Basins of the Far North Region, Cameroon
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作者 Christophe Wang-baa Temoa Jean Massawa +2 位作者 Francis Dongmo Djiotsa Yakouba Manjely Felix Meutchieye 《Open Journal of Animal Sciences》 2025年第1期51-68,共18页
In order to contribute to a better understanding of the biodiversity of local chicken populations, this study focused on the description of the essential qualitative parameters in the phenotypic characterization of lo... In order to contribute to a better understanding of the biodiversity of local chicken populations, this study focused on the description of the essential qualitative parameters in the phenotypic characterization of local species. Conducted in 6 localities in the Far North Region of Cameroon (Doukoula, Yagoua, Guidiguis, Dziguilao, Maroua 3rd and Méri), a population of 240 local chickens, including 172 hens and 68 cocks were characterized in family farms. The choice of localities was made on the basis of their strong potential local chicken flocks in the region. To this end, each animal was the subject of a qualitative description based on the identification of the sex of the animal, the description of the colorations of the plumage and extremities, and the description of the types of format, plumage and crests. All observations were made with the naked eye and in daylight and then photographed. The main results show that the plumage colors are multiple and dominated by the White-Pied-Black (21.7%) and the Mille-fleur (20.8%);the wattles are dominated by the red (60%) and the pink (35.4%);the tarsi are dominated by the white (43.8%) and the black (32.08%);the white skin (92.5%) dominates over the pink skin (7.5%);the “Smooth-uniform” feather is dominant (97.08%), followed by the smooth-crested type (2.08%) and the fries type (0.82%);the medium size of the chickens is dominant (86.66%), followed by the dwarf size (9.58%) and the large size (3.75%). The results of this study demonstrate that there is a strong phenotypic diversity within the local chicken population. This diversity can serve as a basis for the development of selection, conservation and genetic potential improvement programs based on rational exploitation of the local chicken. 展开更多
关键词 morphological Characteristics Local Chicken Far North Cameroon
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Enhanced risk assessment framework integrating distribution dynamics,genetically inferred populations,and morphological traits of Diploderma lizards
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作者 Qi Xiao Xiu-Dong Shi +5 位作者 Lin Shi Zhong-Yi Yao You-Hua Chen Wei-Zhao Yang Zi-Yan Liao Yin Qi 《Zoological Research》 2025年第1期15-26,共12页
Assessing the threat status of species in response to global change is critical for biodiversity monitoring and conservation efforts.However,current frameworks,even the IUCN Red List,often neglect critical factors suc... Assessing the threat status of species in response to global change is critical for biodiversity monitoring and conservation efforts.However,current frameworks,even the IUCN Red List,often neglect critical factors such as genetic diversity and the impacts of climate and land-use changes,hindering effective conservation planning.To address these limitations,we developed an enhanced extinction risk assessment framework using Diploderma lizards as a model.This framework incorporates long-term field surveys,environmental data,and land-use information to predict distributional changes for 10 recently described Diploderma species on the Qinghai-Xizang Plateau,which hold ecological significance but remain underassessed in conservation assessment.By integrating the distribution data and genetically inferred effective population sizes(Ne),we conducted scenario analyses and used a rank-sum approach to calculate Risk ranking scores(RRS)for each species.This approach revealed significant discrepancies with the IUCN Red List assessments.Notably,D.yangi and D.qilin were identified as facing the highest extinction risk.Furthermore,D.vela,D.batangense,D.flaviceps,D.dymondi,D.yulongense,and D.laeviventre,currently classified as“Least Concern”,were found to warrant reclassification as“Vulnerable”due to considerable threat from projected range contractions.Exploring the relationship between morphology and RRS revealed that traits such as snout-vent length and relative tail length could serve as potential predictors of extinction risk,offering preliminary metrics for assessing species vulnerability when comprehensive data are unavailable.This study enhances the precision of extinction risk assessment frameworks and demonstrates their capacity to refine and update risk assessments,especially for lesser-known taxa. 展开更多
关键词 LIZARD Extinction Risk Assessment IUCN Red List Conservation Status Effective Population Size morphological Traits
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Assessment of Salinity Tolerance and Ecotypic Variability in Vicia narbonensis L.:Morphological,Physiological,and Biochemical Responses
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作者 Hocine Bougrine Salah Hadjout +7 位作者 Mohamed Zouidi Abdeldjalil Belkendil Amer Zeghmar Chaouki Boulekdam Walid Ouaret Walid Soufan Fathi Abdellatif Belhouadjeb Amar Mebarkia 《Phyton-International Journal of Experimental Botany》 2025年第1期251-267,共17页
Salinity stress is a major challenge for global agriculture,particularly in arid and semi-arid regions,limiting plant productivity due to water and soil salinity.These conditions particularly affect countries along th... Salinity stress is a major challenge for global agriculture,particularly in arid and semi-arid regions,limiting plant productivity due to water and soil salinity.These conditions particularly affect countries along the southern Mediterranean rim,including Algeria,which primarily focuses on pastoral and forage practices.This study investigates salinity tolerance and ecotypic variability in Vicia narbonensis L.,a fodder legume species recognized for its potential to reclaim marginal soils.Morphological,physiological,and biochemical responses were assessed in three ecotypes(eco2,eco9,and eco10)exposed to different salinity levels(low,moderate,and severe).The study was conducted using a completely randomized block design with three blocks per ecotype per dose.The results from the two-way analysis of variance demonstrate significant effects across nearly all attributes studied,revealing distinct ecotypic responses.These findings underscore variations in growth parameters,osmotic regulation mechanisms,and biochemical adjustments.The substantial diversity observed among these ecotypes in their response to salinity provides valuable insights for breeders addressing both agronomic and ecological challenges.Multivariate analyses,including Principal Component Analysis(PCA),revealed key variables distinguishing between ecotypes under salinity stress.Moreover,Classification based on Salinity Tolerance Indices(STI)further differentiated ecotypic performance with more precision,and this is because of the combination of the different parameters studied.These results open up new prospects for the development of strategies to improve the salinity tolerance of forage legumes. 展开更多
关键词 Salinity tolerance Vicia narbonensis morphological traits physiological adaptations biochemical changes salinity tolerance index(STI)
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A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families
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作者 Ansar Hussain Huan Zhang +16 位作者 Muhammad Zubair Wasim Shah Khalid Khan Imtiaz Ali Yousaf Raza Aurang Zeb Tanveer Abbas Nisar Ahmed Fazal Rahim Ghulam Mustafa Meftah Uddin Nadeem Ullah Musavir Abbas Muzammil Ahmad Khan Hui Ma Bo Yang Qing-Hua Shi 《Asian Journal of Andrology》 2025年第2期189-195,共7页
Multiple morphological abnormalities of the flagella(MMAF)represent a severe form of sperm defects leading to asthenozoospermia and male infertility.In this study,we identified a novel homozygous splicing mutation(c.8... Multiple morphological abnormalities of the flagella(MMAF)represent a severe form of sperm defects leading to asthenozoospermia and male infertility.In this study,we identified a novel homozygous splicing mutation(c.871-4 ACA>A)in the adenylate kinase 7(AK7)gene by whole-exome sequencing in infertile individuals.Spermatozoa from affected individuals exhibited typical MMAF characteristics,including coiled,bent,short,absent,and irregular flagella.Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella.Immunofluorescence staining confirmed the absence of AK7 protein from the patients’spermatozoa,validating the pathogenic nature of the mutation.This study provides direct evidence linking the AK7 gene to MMAF-associated asthenozoospermia in humans,expanding the mutational spectrum of AK7 and enhancing our understanding of the genetic basis of male infertility. 展开更多
关键词 AK7 ASTHENOZOOSPERMIA male infertility multiple morphological anomalies of the flagella
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Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility
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作者 Muhammad Shoaib Muhammad Zubair +10 位作者 Wasim Shah Meftah Uddin Ansar Hussain Ghulam Mustafa Fazal Rahim Huan Zhang Imtiaz Ali Tanveer Abbas Yousaf Raza Sui-Xing Fan Qing-Hua Shi 《Asian Journal of Andrology》 2025年第4期516-523,共8页
Multiple morphological abnormalities of sperm flagella(MMAF)is a severe form of asthenoteratozoospermia,characterized by morphological abnormalities and reduced motility of sperm,causing male infertility.Although appr... Multiple morphological abnormalities of sperm flagella(MMAF)is a severe form of asthenoteratozoospermia,characterized by morphological abnormalities and reduced motility of sperm,causing male infertility.Although approximately 60%of MMAF cases can be explained genetically,the etiology of the remaining cases is unclear.Here,we identified two novel compound heterozygous variants in the gene,dynein axonemal heavy chain 10(DNAH10),in three patients from two unrelated Pakistani families using whole-exome sequencing(WES),including one compound heterozygous mutation(DNAH10:c.9409C>A[p.P3137T];c.12946G>C[p.D4316H])in family 1 and another compound heterozygous mutation(DNAH10:c.8849G>A[p.G2950D];c.11509C>T[p.R3687W])in family 2.All the identified variants are absent or rare in public genome databases and are predicted to have deleterious effects according to multiple bioinformatic tools.Sanger sequencing revealed that these variants follow an autosomal recessive mode of inheritance.Hematoxylin and eosin(H&E)staining revealed MMAF,including sperm head abnormalities,in the patients.In addition,immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella.These findings broaden the spectrum of DNAH10 variants and expand understanding of the genetic basis of male infertility associated with the MMAF phenotype. 展开更多
关键词 asthenoteratozoospermia DNAH10 male infertility multiple morphological abnormalities of sperm flagella
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WITHDRAWAL:Predicting Irreducible Water Saturation of Unconventional Reservoirs by Using NMR T2 Spectra:Methods of Morphological Division and Fractal Models
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《Acta Geologica Sinica(English Edition)》 2025年第2期625-625,共1页
WITHDRAWAL:Zhang,J.J.,Guo,Y.Q.,Qin,Z.Y.,Wei,C.T.,Hu,Q.H.,Vandeginste,V.,Miao,H.Y.,Yao,P.,and Zhang,P.F.,“Predicting Irreducible Water Saturation of Unconventional Reservoirs by Using NMR T2 Spectra:Methods of Morphol... WITHDRAWAL:Zhang,J.J.,Guo,Y.Q.,Qin,Z.Y.,Wei,C.T.,Hu,Q.H.,Vandeginste,V.,Miao,H.Y.,Yao,P.,and Zhang,P.F.,“Predicting Irreducible Water Saturation of Unconventional Reservoirs by Using NMR T2 Spectra:Methods of Morphological Division and Fractal Models”,Acta Geologica Sinica-English Edition(Accepted Article):https://doi.org/10.1111/1755-6724.15094. 展开更多
关键词 fractal models morphological division nmr t spectra methods fractal models acta irreducible water saturation nmr t spectra
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Morphological characteristics and corresponding functional properties of homeostatic human microglia
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作者 Pariya Khodabakhsh Olga Garaschuk 《Neural Regeneration Research》 2026年第3期1112-1113,共2页
Microglia,the resident immune cells of the central nervous system,exhibit a wide array of functional states,even in their so-called“homeostatic”condition,when they are not actively responding to overt pathological s... Microglia,the resident immune cells of the central nervous system,exhibit a wide array of functional states,even in their so-called“homeostatic”condition,when they are not actively responding to overt pathological stimuli.These functional states can be visualized using a combination of multi-omics techniques(e.g.,gene and protein expression,posttranslational modifications,mRNA profiling,and metabolomics),and,in the case of homeostatic microglia,are largely defined by the global(e.g.,genetic variations,organism’s age,sex,circadian rhythms,and gut microbiota)as well as local(specific area of the brain,immediate microglial surrounding,neuron-glia interactions and synaptic density/activity)signals(Paolicelli et al.,2022).While phenomics(i.e.,ultrastructural microglial morphology and motility)is also one of the key microglial state-defining parameters,it is known that cells with similar morphology can belong to different functional states. 展开更多
关键词 functional properties multi omics techniques protein expressionposttranslational modificationsmrna profilingand homeostatic human microglia morphological characteristics resident immune cells homeostatic microgliaare protein expression
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A novel homozygous splicing mutation in AK7 associated with multiple morphological abnormalities of the sperm flagella
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作者 Thomas Greither Holger Herlyn 《Asian Journal of Andrology》 2025年第2期276-276,共1页
Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques l... Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques like intracytoplasmic sperm injection(ICSI).Compared to this,disruptions in established indicators of sperm quality like motility or morphology pose greater challenges for the therapy of couple infertility. 展开更多
关键词 intracytoplasmic sperm injection icsi compared AK medically assisted reproduction medically assisted reproduction mar techniques sperm flagella morphological abnormalities therapy couple infertility mar techniques
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Morphological and molecular characterization of Thelohanellus xiushanensis n.sp.infecting the gill filament of Carassius auratus
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作者 ZHANG Jinye WANG Miaomiao +3 位作者 WANG Yueru LIU Hongyan ZHANG Yiwen ZHAO Yuanjun 《水产学报》 北大核心 2025年第12期176-187,共12页
The exploration and understanding of myxosporean,one of the crucial stressors causing fish disease,have always been highly regarded.The present study aims to fully understand a novel myxobolid species,Thelohanellus xi... The exploration and understanding of myxosporean,one of the crucial stressors causing fish disease,have always been highly regarded.The present study aims to fully understand a novel myxobolid species,Thelohanellus xiushanensis n.sp.infecting the gill filaments of Carassius auratus from Chongqing,China,as well as the associated pathological impacts.A multifaceted analysis at various levels and perspectives was carried out by the approach integrating morphology,molecular systematics,histopathology,combined host and habitat,as well as SSU rDNA data.The results indicated that its mature myxospores displayed a tapering anterior and a blunt-rounded posterior,with a dropshape in front view and melon-seed shape in sutural view in morphology.The outer surface was covered with a transparent membrane sheath in valve view.The dimensions of myxospores were average(19.2±1.1)(17.1-21.0)×(10.0±0.7)(8.7-12.1)×(9.7±0.5)(9.1-10.8)μm.An elliptical polar capsule,containing four to five turns of single polar filament,measures(8.0±0.6)(6.9-9.1)×(6.6±0.3)(6.1-7.1)μm.Its SSU rDNA sequence demonstrated the closest similarity(99.95%)with an actinosporean Neoactinomyxum sp.NEO-7.Histopathological results indicated that numerous myxoplasmodia of T.xiushanensis n.sp.were located in the tips of the gill filaments,resulting in deformation and rupture of partial gill filaments.Furthermore,severely infected gill lamellae exhibited hyperplasia and fusion,accompanied by infiltration of numerous eosinophils.In addition,regenerated gill filaments were observed at the bases of partially ruptured gill filaments,indicating that the host’s gill tissue has the innate capacity to shed diseased tissues and regenerate new ones.This study has proved the present species and Neoactinomyxum sp.NEO-7 belong to the same myxosporean species but corresponding to different developmental stage,designated as a new species.This novel species is a potential pathogen for the host,which should not be ignored.This study not only enriches myxobolid biodiversity and demonstrates a potentially pathogenic agent,but also provides a valid diagnosis for the gill myxoboliosis caused by the present pathogen in aquaculture. 展开更多
关键词 Carassius auratus Thelohanellus xiushanensis n.sp. morphology phylogeny SSU rDNA
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Novel insight into the site-specificity of Hegu (LI4): morphological, biomechanical, and histological analyses
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作者 Kanae Umemoto SHAN Xiyao +3 位作者 Takuro Ishikawa Tadashi Watsuji Yasuharu Watanabe Munekazu Naito 《Journal of Traditional Chinese Medicine》 2025年第4期867-872,共6页
OBJECTIVE:To investigate the site specificity and differences of the Hegu(LI4)located on the midpoint of the second metacarpal and the point where the bases of the first and second metacarpal bones on the dorsum was h... OBJECTIVE:To investigate the site specificity and differences of the Hegu(LI4)located on the midpoint of the second metacarpal and the point where the bases of the first and second metacarpal bones on the dorsum was historically used as Hegu(LI4)in Japan,through morphological,biomechanical,and histological analyses.METHODS:We defined distally located Hegu(LI4)as Hegu(LI4)-D and proximally located Hegu(LI4)as Hegu(LI4)-P.The distance from the skin surface to the blood vessels as well as the biomechanical properties of the two Hegu(LI4)samples were measured using an ultrasound device and Myoton PRO(Myoton AS,Tallinn,Estonia),respectively,in 20 healthy adult volunteers.Sympathetic fibers under the two Hegu(LI4)samples were histologically observed using tyrosine hydroxylase(TH)immunostaining in 10 cadavers.RESULTS:Hegu(LI4)-D was classified into type 1 with blood vessels<4 mm away from the skin surface,and type 2 with blood vessels>10 mm away from the skin surface.In Hegu(LI4)-P,blood vessels were approximately 10 mm away from the surface.Further,Hegu(LI4)-P had significantly higher tone,stiffness,and elasticity than Hegu(LI4)-D(P<0.0001).TH-positive fibers were present near the artery in Hegu(LI4)-P.CONCLUSION:Hegu(LI4)-D and Hegu(LI4)-P differed in terms of hardness and the distance between the skin surface and blood vessels.Furthermore,sympathetic nerve fibers were present near the artery in Hegu(LI4)-P.Taken together,these results suggest that there is site specificity of morphological,biomechanical,and histological differences between the Hegu(LI4)-D and Hegu(LI4)-P. 展开更多
关键词 acupuncture ultrasonic therapy metacarpal bones HISTOLOGY morphology biomechanism
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Contributions of temperature and development state to the morphological variation of Ulva prolifera highlight the source management for green tides
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作者 Kai-Ming Sun Changlin Li +2 位作者 Xiaoxiang Miao Shiliang Fan Zongling Wang 《Journal of Environmental Sciences》 2025年第12期351-360,共10页
Since 2007,the world's largest transregional green tides caused by Ulva prolifera have periodically occurred in China.The morphology of U.prolifera drastically changes during the drifting period,but the reason for... Since 2007,the world's largest transregional green tides caused by Ulva prolifera have periodically occurred in China.The morphology of U.prolifera drastically changes during the drifting period,but the reason for this phenomenon has still been under debate.Our results showed that temperature partly explained the changes in the morphology of U.prolifera,with a determining factor of 0.498.The ratio of highly branched thalli decreased as the temperature increased from around 25 to 30℃.Because morphological changes and physiological acclimation synergistically occurred in floating macroalgae,we hypothesized that if the morphology of U.prolifera is also determined by its development state,and the U.prolifea thalli with different development states should have distinct morphological and physiological traits even under the same environmental conditions.To test the hypothesis,we investigated the photosynthesis of U.prolifera and found a higher photosynthetic capacity but lower photoprotective capacity in algae that grew in the branched development state compared to those in the unbranched development state.Combined with other field observations and lab experiments,we suggest that both temperature and development state contribute to the morphological changes of U.prolifera.Given the varying trends of temperature during U.prolifera blooms in past eleven years and the initial occurrence of U.prolifera thalli in the branched development state in the source of algal bloom,we emphasize the need for source management of green tides. 展开更多
关键词 Ulva prolifera Morphology PHOTOSYNTHESIS DESICCATION Algal control
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Effect of D-Lactide Content and Molecular Weight of PLA on Interfacial Compatibilization with PBAT and the Resultant Morphological,Thermal,and Mechanical Properties
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作者 Aylin Altınbay Ceren Ozsaltık Mohammadreza Nofar 《Journal of Renewable Materials》 2025年第8期1605-1621,共17页
Interfacial compatibilization is essential to generate compatible blend structures with synergistically enhanced properties.However,the effect of molecular structure on the reactivity of compatibilizers is not properl... Interfacial compatibilization is essential to generate compatible blend structures with synergistically enhanced properties.However,the effect of molecular structure on the reactivity of compatibilizers is not properly known.This study investigates the compatibilization effect of multifunctional,epoxy-based Joncryl chain extender in blends of polylactide(PLA)and polybutylene adipate-co-terephthalate(PBAT)using PLA with varying D-lactide contents and molecular weights.These PLAs were high molecular weight amorphous PLA(aPLA)with D-content of 12 mol%and semi-crystalline PLA(scPLA)grades with D-contents below 1.5 mol%at both high(h)and low(l)molecular weights.The reactivity of Joncryl was assessed with each individual neat polymer,and its compatibilization effectwas examined in blends at aweight ratio of 75 wt/25wt using small amplitude oscillatory shear(SAOS)rheological analysis.Differential scanning calorimetry(DSC),dynamic mechanical analysis(DMA),tensile and impact tests,as well as scanning electron microscopy(SEM)observations,were conducted to characterize the blends.The addition of Joncryl resulted in remarkable improvements rheological behavior of all neat polymers and noticeably refined PBAT droplets in all blends,particularly in aPLA/PBAT and scPLA(l)/PBAT.The ductility,toughness and impact strength of these blends were significantly enhanced,while their tensile strength and modulus also showed slight improvements.Although the addition of Joncryl retarded the crystallization of the scPLA samples,the scPLA(h)/PBAT blend with Joncryl exhibited the highest thermomechanical performance over a wide temperature range.This was attributed to the higher crystallinity of scPLA(h),which,even in the presence of Joncryl,provided high thermal stability. 展开更多
关键词 POLYLACTIDE poly(butylene adipate-co-terephthalate) Joncryl BLEND rheology morphology
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