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Genomic mosaicism of the Brain:Origin,Impact,and Utility

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Neuroscience Bulletin 2024年第6期40卷 759-776页

作者： jared H.Graham Johannes C.m.Schlachetzki Xiaoxu Yang martin W.Breuss Department of Pediatrics Section of Clinical Genetics and MetabolismUniversity of Colorado School of MedicineAurora80045-2581COUSA Department of Cellular and molecular medicine University of California San DiegoLa Jolla92093-0021San DiegoCAUSA Department of Neurosciences University of California San DiegoLa Jolla92093-0021San DiegoCAUSA Rady Children’s Institute for Genomic medicine San Diego92123CAUSA

Genomic mosaicism describes the phenomenon where some but not all cells within a tissue harbor unique genetic ***,research focused on the impact of genomic mosaicism on clinical phenotype—motivated by its involvement in cancers and overgrowth *** recently,we increasingly shifted towards the plethora of neutral mosaic variants that can act as recorders of cellular lineage and environmental ***,we summarize the current state of the field of genomic mosaicism research with a special emphasis on our current understanding of this phenomenon in brain development and *** the field of genomic mosaicism has a rich history,technological advances in the last decade have changed our approaches and greatly improved our *** will provide current definitions and an overview of contemporary detection approaches for genomic ***,we will discuss the impact and utility of genomic mosaicism.

关键词： Genomics Brain development Brain homeostasis Genomic mosaicism

Can changes in midsole bending stiffness of shoes affect the onset of joint work redistribution during a prolonged run?

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Journal of Sport and Health Science 2022年第3期11卷 293-302页

作者： Sasa Cigoja jared R.Fletcher Benno m.Nigg Human Performance Laboratory Faculty of KinesiologyUniversity of CalgaryCalgaryAB T2N 1N4Canada Department of Health and Physical Education Mount Royal UniversityCalgaryAB T3E 6K6Canada

Purpose This study aimed to investigate if changing the midsole bending stiffness of athletic footwear can affect the onset of lower limb joint work redistribution during a prolonged *** Fifteen trained male runners(10-km time ofmin)performed 10-km runs at 90%of their individual speed at lactate threshold(i.e.,when change in lactate exceeded 1 mmol/L during an incremental running test)in a control and stiff shoe condition on 2 *** limb joint kinematics and kinetics were measured using a motion capture system and a force-instrumented *** were acquired every 500 *** Prolonged running resulted in a redistribution of positive joint work from distal to proximal joints in both shoe *** to the beginning of the run,less positive work was performed at the ankle(approximately 9%;p≤0.001)and more positive work was performed at the knee joint(approximately 17%;p≤0.001)at the end of the *** running in the stiff shoe condition,the onset of joint work redistribution at the ankle and knee joints occurred at a later point during the *** A delayed onset of joint work redistribution in the stiff condition may result in less activated muscle volume,because ankle plantar flexor muscles have shorter muscles fascicles and smaller cross-sectional areas compared to knee extensor *** active muscle volume could be related to previously reported decreases in metabolic cost when running in stiff *** results contribute to the notion that footwear with increased stiffness likely results in reductions in metabolic cost by delaying joint work redistribution from distal to proximal joints.

关键词： Fatigue Footwear mechanics Performance Running

Fatigability during volitional walking in incomplete spinal cord injury: cardiorespiratory and motor performance considerations

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Neural Regeneration Research 2018年第5期13卷 786-790页

作者： jared m.Gollie muscle morphology Mechanics and Performance Laboratory Clinical Research Center-Human Performance Research Unit Veteran Affairs Medical Center Department of Health Human Function and Rehabilitation Sciences School of Medicine and Health Sciences The George Washington University

Fatigability describes the decline in force production（i.e., performance fatigability） and/or changes in sensations regulating performance（i.e., perceived fatigability） during whole-body activity and poses a major challenge to those living with spinal cord injuries（SCI）. After SCI, the inability to overcome disruptions to metabolic homeostasis due to cardiorespiratory limitations and physical deconditioning may contribute to increased fatigability severity. The increased susceptibility to fatigability may have implications for motor control strategies and motor learning. Locomotor training approaches designed to reduce fatigability and enhance aerobic capacity in combination with motor learning may be advantageous for promoting functional recovery after SCI. Future research is required to advance the understanding of the relationship between fatigability, cardiorespiratory function and motor performance following SCI.

关键词： fatigue rehabilitation spinal cord injuries oxygen consumption gait exercise muscle fatigue metabolism cardiorespiratory fitness locomotion

Few-Shot Learning Enables Population-Scale Analysis of Leaf Traits in Populus trichocarpa

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Plant Phenomics 2023年第3期5卷 581-597页

作者： John Lagergren mirko Pavicic Hari B.Chhetri Larry m.York Doug Hyatt David Kainer Erica m.Rutter Kevin Flores Jack Bailey-Bale marie Klein Gail Taylor Daniel Jacobson jared Streich Biosciences Division Oak Ridge National LaboratoryOak RidgeTNUSA Department of Applied mathematics University of CaliforniaMercedCAUSA Department of mathematics North Carolina State UniversityRaleighNCUSA Department of Plant Sciences University of CaliforniaDavisCAUSA

Plant phenotyping is typically a time-consuming and expensive endeavor,requiring large groups of researchers to meticulously measure biologically relevant plant traits,and is the main bottleneck in understanding plant adaptation and the genetic architecture underlying complex traits at population *** this work,we address these challenges by leveraging few-shot learning with convolutional neural networks to segment the leaf body and visible venation of 2,906 Populus trichocarpa leaf images obtained in the *** contrast to previous methods,our approach(a)does not require experimental or image preprocessing,(b)uses the raw RGB images at full resolution,and(c)requires very few samples for training(e.g.,just 8 images for vein segmentation).Traits relating to leaf morphology and vein topology are extracted from the resulting segmentations using traditional open-source image-processing tools,validated using real-world physical measurements,and used to conduct a genome-wide association study to identify genes controlling the *** this way,the current work is designed to provide the plant phenotyping community with(a)methods for fast and accurate image-based feature extraction that require minimal training data and(b)a new population-scale dataset,including 68 different leaf phenotypes,for domain scientists and machine learning *** of the few-shot learning code,data,and results are made publicly available.

关键词： networks neural image

Seminal biomarkers for the evaluation of male infertility

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Asian Journal of Andrology 2016年第3期18卷 426-433,I0009页

作者： jared m Bieniek Andrei P Drabovich Kirk C Lo Department of Urology Hartford Hospital Hartford CT USA Department of Clinical Biochemistry University Health Network Toronto ON Canada Department ofLaboratory medicine and Pathobiology University of Toronto Toronto ON Canada Department of Surgery Division of Urology Mount Sinai Hospital Toronto ONCanada.

For men struggling to conceive with their partners, diagnostic tools are limited and often consist of only a standard semen analysis. This baseline test serves as a crude estimation of male fertility, leaving patients and clinicians in need of additional diagnostic biomarkers. Seminal fluid contains the highest concentration of molecules from the male reproductive glands, therefore, this review focuses on current and novel seminal biomarkers in certain male infertility scenarios, including natural fertility, differentiating azoospermia etiologies, and predicting assisted reproductive technique success. Currently available tests include antisperm antibody assays, DNA fragmentation index, sperm fluorescence in situ hybridization, and other historical sperm functional tests. The poor diagnostic ability of current assays has led to continued efforts to find more predictive biomarkers. Emerging research in the fields of genomics, epigenetics, proteomics, transcriptomics, and metabolomics holds promise for the development of novel male infertility biomarkers. Seminal protein-based assays of TEXI01, ECm 1, and ACRV1 are already available or under final development for clinical use. Additional panels of DNA, RNA, proteins, or metabolites are being explored as we attempt to understand the pathophysiologic processes of male infertility. Future ventures will need to continue data integration and validation for the development of clinically useful infertility biomarkers to aid in male infertility diagnosis, treatment, and counseling.

关键词： assisted reproductive techniques diagnosis male infertility, semen

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

Water balloon-induced orbital fracture in an aviator

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military medical Research 2020年第2期7卷 245-248页

作者： Timothy E.Holland David m.Smith Guy N.Gibson jared G.Brinkerhoff Flight and Operational medical Clinic 78th Medical Group655 Seventh StreetRobins Air Force BaseRobinsGA 31098USA Department of Radiology Ehrling Bergquist Clinic2501 Capehart RdOffutt AFBNEOffutt 68113-2160USA Flight and Operational medical Clinic 5th Medical Group194 Missilie AveMinot AFBNDMinot 58705USA

Background:Orbital fractures are common injuries found in facial *** etiologies of orbital fractures include motor vehicle collisions and *** report the case of a 32-year-old male who suffered an orbital fracture from a water ***,we describe the aeromedical complications that may result from this ***,we attempt to answer the question of when a patient may return to flying after sustaining such an injury through review of the *** presentation:A 32-year-old male pilot with the United States Air Force was at an outdoor event with his unit when he was struck with a water balloon launched from a sling shot into his left *** afterwards,he had an onset of subcutaneous emphysema and was escorted to a nearby Emergency *** tomography identified an orbital fracture with associated orbital and subcutaneous *** patient was evaluated by a plastic surgeon and was determined not to be a surgical *** weeks later,he returned to flying ***:Water balloons are thought to be safe and harmless ***,when coupled with sling shots,water balloons can become formidable projectiles capable of significant orbital injury including orbital *** injuries are concerning to aviators,as the most common sites for fractures of the orbit are the thin ethmoid and maxillary bones adjacent to the *** altitude,gases in the sinuses may expand and enter the orbit through these fractures,which may suddenly incapacitate the *** is important for flight surgeons to identify and assess these individuals to determine suitability for flying.

关键词： Boyle’s law Orbital emphysema Facial fracture

Increased food intake after starvation enhances sleep in Drosophila melanogaster

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Journal of Genetics and Genomics 2017年第6期44卷 319-326页

作者： Josue m.Regalado mcKenna B.Cortez Jeremy Grubbs jared A.Link Alexander van der Linden Yong Zhang Department of Biology University of Nevada-Reno

Feeding and sleep are highly conserved,interconnected behaviors essential for *** has been shown to potently suppress sleep across species;however,whether satiety promotes sleep is still *** we use the fruit fly,Drosophila melanogaster,as a model organism to address the interaction between feeding and *** first monitored the sleep of flies that had been starved for 24 h and found that sleep amount increased in the first 4 h after flies were given *** sleep after starvation was due to an increase in sleep bout number and average sleep bout *** of translin or adipokinetic hormone,which fail to suppress sleep during starvation,still exhibited a sleep increase after starvation,suggesting that sleep increase after starvation is not a consequence of sleep loss during *** also found that feeding activity and food consumption were higher in the first 10-30 min after *** food consumption in starved flies to 30 min was sufficient to increase sleep for 1 *** flies ingested a comparable amount of food at differing sucrose concentrations,sleep increase after starvation on a lower sucrose concentration was *** together,our results suggest that increased food intake after starvation enhances sleep and reveals a novel relationship between feeding and sleep.

关键词： Drosophila Feeding Sleep Starvation Satiety

Effects of Chemical Products on Fire Blight Suppression,and Fruit Production and Quality in Apple(malus domestica Borkh.)*** Glory

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Phyton-International Journal of Experimental Botany 2022年第7期91卷 1341-1351页

作者： Álvaro Rodríguez-Peña Ana C.Gonzalez-Franco jared Hernández-Huerta Nora A.Salas-Salazar Dámaris L.Ojeda-Barrios Esteban Sánchez Loreto Robles-Hernández Facultad de Ciencias Agrotecnológicas Universidad Autónoma de ChihuahuaPascual OrozcoChihuahua31350México Centro de Investigación y Desarrollo A.C. DeliciasChihuahua33089México

Antibiotics are widely used in fire blight management programs,yet there are no studies that demonstrate the evaluation of their efficacy in ***,the present study was conducted to investigate the effects of the active ingredients in five commercial products(Kasumin■2L,Agrygent Plus■,Agricultural Terramycin■,Agrimicin100,and Actigard■)on fire blight suppression,and fruit yield and quality of apple(malus domestica Borkh.)*** *** experiment was conducted in a commercial orchard using a completely randomized block design,with six treatments:(1)Oxytetracycline[Ox],110 mg L^(−1);(2)Kasugamycin[Kas],4.7 mL L^(−1);(3)Oxytetracycline+Gentamicin[Ox+Gen],48 mg L^(−1)+12 mg L^(−1);(4)Streptomycin+Oxytetracycline[Str+Ox],90 mg L^(−1)+9 mg L^(−1);(5)Acibenzolar-S-methyl[ASm],70 mg L^(−1);and(6)Control,only water,with four replications,and three 11-year-old trees as an experimental *** of infection including flowers,shoots and fruits,yield and fruit quality were *** treatments suppressed infection in flowers,shoots,and *** provided the highest levels of reduction of flower and shoot infection,while Kas had the least effect on the reduction of infection in these *** Ox+Gen treatment had the greatest suppression of fruit infection,and the best results on fruit yield and quality,followed by Ox and *** is the first study conducted to evaluate the efficacy of the active ingredients of five commercial products used for the management of fire blight in apple trees in mexico.

关键词： Erwinia amylovora oxytetracycline gentamicin kasugamycin streptomycin Acibenzolar-S-methyl