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Contemporary Approaches for Identifying Rare Bone Disease Causing genes

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Bone Research 2013年第4期1卷 301-310页

作者： Charles R.Farber Thomas l.Clemens Center for Public Health genomics University of Virginia Departments of Public Health Sciences and Biochemistry and Molecular genetics University of Virginia Department of Orthopaedic Surgery Johns Hopkins School of Medicine Baltimore Veterans Administration Medical Center

Recent improvements in the speed and accuracy of DNA sequencing, together with increasingly sophisti- cated mathematical approaches for annotating gene networks, have revolutionized the field of human genetics and made these once time consuming approaches assessable to most investigators. In the field of bone research, a particularly active area of gene discovery has occurred in patients with rare bone disorders such as osteogenesis imperfecta （OI） that are caused by mutations in single genes. In this perspective, we highlight some of these technological advances and describe how they have been used to identify the genetic determinants underlying two previously unexplained cases of OI. The widespread availability of advanced methods for DNA sequencing and bioinformatics analysis can be expected to greatly facilitate identification of novel gene networks that normally function to control bone formation and maintenance.

关键词： exome sequencing genome sequencing bioinformatics osteogenesis imperfect pigment epithelium-derived factor (PEDF) bone restricted ifitm-like protein (Bril)

Hydrophobic Effect in a Continuum Model of the lipid Bilayer

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Communications in Computational Physics 2009年第8期6卷 655-672页

作者： Phillip l.wilson Huaxiong Huang Shu Takagi Department of Mathematics and Statistics University of CanterburyPrivate Bag 4800Christchurch 8140New Zealand Department of Mathematics and Statistics York UniversityTorontoM3J 1P3Canada Department of Mechanical Engineering The University of TokyoTokyoJapan

we study a continuum paradigm of the lipid bilayer based on minimizing the free energy of a mixture of water and lipid *** paper extends previous work of Blom and Peletier[European ***.,15(2004),pp.487-508]in the following ways.(a)It formulates a more general model of the hydrophobic effect to facilitate connections with microscale simulations and first-principles analysis.(b)It clarifies the meaning and role of the model parameters.(c)It outlines a method for determining parameter values so that physically-realistic bilayer density profiles can be obtained,for example for use in macroscale ***(a)-(c)suggest that the model has potential to robustly connect some micro-and macroscale levels of multiscale blood flow *** mathematical modelling in point(a)is based upon a consideration of the underlying physics of inter-molecular *** governing equations thus obtained are minimized by gradient flows via a novel numerical approach;this enables point(b).The numerical results are shown to behave physically in terms of the effect of background concentration,in contrast to the earlier model which is shown here to not display the expected behaviour.A“short-tail”approximation of the lipid molecules also gives an analytical tool which yields critical values of some parameters under certain ***(c)involves the first quantitative comparison of the numerical data with physical experimental results.

关键词： lipid bilayer free energy continuum model numerical minimization

Towards Transgenic Primates:what can we learn from mouse genetics?

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Science China(life Sciences) 2009年第6期52卷 506-514页

作者： wANg Phillip l. TSIEN Joe Z. Brain and Behavior Discovery Institute School of MedicineMedical College of Georgia Yunnan Banna Primate Disease Model Research Center and Shanghai Institute of Brain Functional GenomicsKey Laboratory of Brain Functional GenomicsMOE & STCSMEast China Normal University

Considering the great physiological and behavioral similarities with humans,monkeys represent the ideal models not only for the study of complex cognitive behavior but also for the preclinical research and development of novel therapeutics for treating human *** powerful genetic tech-nologies initially developed for making mouse models are being explored for generating transgenic primate *** review the latest genetic engineering technologies and discuss the potentials and limitations for systematic production of transgenic primates.

关键词： Non-human primate Mouse Transgene genetics learning Memory disease model

Minimally invasive techniques in benign and malignant adrenal tumors

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world Journal of Clinical Cases 2022年第35期10卷 12812-12821页

作者： Ahmet Bulent Dogrul Omer Cennet Anıl Hilmi Dincer Department of general Surgery Hacettepe University Faculty of MedicineHacettepe UniversityAnkara 06100Turkey

Minimally invasive adrenalectomy has become the main treatment modality for most adrenal *** laparoscopic transabdominal and retroperitoneoscopic approaches are safe and feasible options,each with respective advantages,including better surgical outcomes,fewer complications,and faster recovery over open *** open surgery remains a valid modality in treatment of adrenocortical cancer in the presence of some findings such as invasion,robotic platforms,and minimally invasive surgery have gained popularity as technology continues to *** preservation during adrenalectomy is feasible in some conditions to prevent adrenal *** technologies are increasingly utilized in benign and malignant tumors,including the adrenal gland,with various outcomes.A multidisciplinary team,an experienced surgeon,and a highvolume center are recommended for any surgical approaches and management of adrenal *** review article evaluated recent findings and current evidence on minimally invasive adrenalectomy.

关键词： Adrenalectomy laparoscopy Retroperitoneoscopic Minimally invasive surgery Robotic

How do belowground organisms influence plant-pollinator interactions?

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Journal of Plant Ecology 2015年第1期8卷 1-11页

作者： Nicholas A.Barber Nicole l.Soper gorden Department of Biological Sciences Northern Illinois UniversityDeKalbIL 60115USA Institute for the Study of the Environment Sustainabilityand EnergyNorthern Illinois UniversityDeKalbIL 60115USA Department of Biology University of Minnesota DuluthDuluthMN 55812USA

Aims The majority of angiosperms are pollinated by animals,and this interaction is of enormous importance in both agricultural and natural *** behavior is influenced by plants’floral traits,and these traits may be modified by interactions with other community *** recent years,knowledge of ecological linkages between above-and belowground organ-isms has grown *** communities are extremely diverse,and when their interactions with plants influence floral characteristics,they have the potential to alter pollinator attrac-tion and visitation,but plant-pollinator interactions have been neglected in studies of the direct and indirect effects of soil organism-root ***,we review these belowground interactions,focusing on the effects of nitrogen-fixing bacteria,arbuscular mycorrhizal fungi and root-feeding herbivores,and their effects on floral traits and ***,we identify gaps in our knowledge of these indirect effects and recommend promising directions and topics that should be addressed by future *** Findings Belowground organisms can influence a wide variety of floral traits that are important mediators of pollinator attraction,including the number and size of flowers and nectar and pollen *** traits that are known to influence pollinators in some plant species,such as floral volatiles,color and nectar composition,have rarely or never been examined in the context of belowground plant *** clear effects on flowers,relatively few studies have measured pollinator responses to belowground *** these indirect effects have been studied,both arbuscular mycorrhi-zal fungi and root herbivores were found to shift pollinator visitation *** on the interaction,these changes may either increase or decrease pollinator ***,we discuss future directions for ecological studies that will more fully integrate below-ground ecology with pollinat

关键词： aboveground-belowground pollinator mycorrhizae herbivore floral traits indirect effects

CHARACTERIZATION OF InAs AND IngaAs ON（110）gaAs BY X-RAY DIFFRACTION AND TOPOgRAPHY

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CHARACTERIZATION OF InAs AND InGaAs ON（110）GaAs BY X-RAY D...

lichen species dominance and the resulting photosynthetic behavior of Sonoran Desert soil crust types(Baja California,Mexico)

Sixteenth Congress of the International Union of Crystallography

作者： l.Hart P.F.Fewster X.Zhang D.w.Pashley Philips Reasearch laboratories RedhillUK Interdisciplinary Research Centre for Semiconductor Materials Imperial CollegeLondonUK Department of Materials Imperial CollegeLondonUK.

＜正＞There has recently been interest in semiconductor growth on（110） orientated *** refief in heteroepitaxial layers grown on （110） substrates is affected by the surface geometry since,in the [001]direction the {111} slip planes are inclined to the surface, while in the[1-10]direction,the {111} planes are perpendicular to the *** electron microscopy has shown that strain relief of InAs on（110） gaAs is asymmetric,with 60°misfit

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Ecological Processes 2013年第1期2卷 64-72页

作者： Burkhard Büdel Mercedes Vivas Otto l lange Plant Ecology and Systematics Biology DepartmentUniversity of KaiserslauternP.O.Box 3049D-67653KaiserslauternGermany Department of Plant Science Faculty of PharmacyUniversidad Complutense de Madrid Plaza Ramóny Cajal28040MadridSpain Julius-von-Sachs-Institut für Biowissenschaften University of WürzburgJulius-von-Sachs-Platz 3D-97082WürzburgGermany.

Introduction:lichen dominated biological soil crusts(BSCs)occur over large areas in the Sonoran Desert of the southwestern USA and northwest *** Baja California BSCs show a distinct patchiness and several types can be *** chlorolichen-and two cyanolichen-dominated BSCs were *** hypothesize that patchiness and the resulting domination of certain functional lichen groups will result in patchiness of photosynthetic CO_(2)-uptake related to environmental factors as ***:Four different soil crust samples were placed in cuvettes and their CO_(2) exchange was recorded in an open system with an infrared gas *** blown over the BSCs had a controlled CO_(2) content of 350 *** cuvettes were operated in *** CO2 exchange was continually recorded throughout the ***:Besides the dominating chlorolichens Psora decipiens and Placidium squamulosum and the cyanolichens Peltula patellata and ***,several other lichen species and 12 cyanobacterial species were found in the biological soil crusts *** chlorolichen BSCs already gained positive net photosynthesis with high air humidity alone,while the cyanolichen types did not,but showed smaller CO_(2)-uptake depression after water *** specific net photosynthesis responses to mode of hydration and to crust water content seem to correlate with precipitation characteristics of their ***:Species specific photosynthetic performance related to activation of respiration and net photosynthesis as well as to crust water content help to explain niche occupation and species composition of *** functional types have to be considered when they have a patchy distribution.

关键词： Biological soil crust lichens Cyanobacteria Photosy

Current understanding of the molecular mechanisms in Parkinson's disease:Targets for potential treatments

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Translational Neurodegeneration 2017年第1期6卷 256-290页

作者： Panchanan Maiti Jayeeta Manna gary l.Dunbar Field Neurosciences Institute laboratory for Restorative Neurology Mt.PleasantMI 48859USA Program in Neuroscience Mt.PleasantMI 48859USA Department of Psychology Central Michigan UniversityMt.PleasantMI 48859USA Field Neurosciences Institute St.Mary’s of MichiganSaginawMI 48604USA Department of Biology Saginaw Valley State UniversitySaginawMI 48604USA Department of Physiology University of Tennessee Health Science CenterMemphisTN 38105USA

gradual degeneration and loss of dopaminergic neurons in the substantia nigra,pars compacta and subsequent reduction of dopamine levels in striatum are associated with motor deficits that characterize Parkinson’s disease(PD).In addition,half of the PD patients also exhibit frontostriatal-mediated executive dysfunction,including deficits in attention,short-term working memory,speed of mental processing,and *** most commonly used treatments for PD are only partially or transiently effective and are available or applicable to a minority of ***,these therapies neither restore the lost or degenerated dopaminergic neurons,nor prevent or delay the disease progression,the need for more effective therapeutics is *** this review,we provide a comprehensive overview of the current understanding of the molecular signaling pathways involved in PD,particularly within the context of how genetic and environmental factors contribute to the initiation and progression of this *** involvement of molecular chaperones,autophagy-lysosomal pathways,and proteasome systems in PD are also *** addition,emerging therapies,including pharmacological manipulations,surgical procedures,stem cell transplantation,gene therapy,as well as complementary,supportive and rehabilitation therapies to prevent or delay the progression of this complex disease are reviewed.

关键词： Parkinson’s disease Neurodegeneration Protein misfolding Molecular chaperones Cell therapy

Comparative Proteomics Based on 18O labeling to Evaluate the Hepatotoxicity of Tris（2,3-dibromopropyl） Isocyanuratein Rats

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Journal of Beijing Institute of Technology 2019年第3期28卷 659-666页

作者： Yu li Xuefei lü Yuanzhan Yang Yulin Deng School of life Science Beijing Institute of Technology

Detecting protein expression levels in organisms exposed to environmental pollutants can help us understand the action mechanism of toxicity. In the present study, adult female Sprague-Dawley (SD) rats received a consecutive intraperitoneal injection of tris(2,3-dibromopropyl) isocyanurate (TBC) for seven days, and the ^16O/^18O labeling comparative proteomic approach was used to study the change of liver proteome in these rats. Thirty six differential proteins were identified between the control group and the high-dose-exposed group (8 mg/kg), of which, twenty eight proteins were down-regulated and eight proteins were up-regulated. Bioinformatics analysis revealed that most of the differential proteins were related with the metabolic and cellular processes. In addition, the contents of malondialdehyde (MDA), catalase (CAT), and glutathione (gSH) in liver were measured to evaluate the oxidative stress status induced by TBC exposure. Together, these findings showed that TBC might be toxic to liver by disrupting metabolic process and apoptosis. The results might provide a better insight into the mechanism of toxicity induced by TBC.

关键词： comparative proteomic hepatotoxicity ^18O labeling oxidative stress tris(2,3-dibromopropyl) isocyanurate (TBC)