检索结果-南通市图书馆

AB090. MOG1, the genetic modifier at 20q13, delays the age-at-onset of glaucoma by 8 to 10 years

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Annals of Eye Science 2018年第1期 496-496页

作者： Vincent Raymond Pascal Belleau Rose Arseneault Stéphane Dubois Jean-Louis Anctil Gilles Côté marcel amyot Fahed Elian Michael AWalter Québec Glaucoma Network Département d’ophtalmologie Centre de rechrechr du CHU de QuébecQuébecQCCanada

Background:Primary open-angle glaucoma(POAG)is a genetically complex disorder caused primarily by gene-gene *** identify these interactions,we studied the CA family,a large French-Canadian pedigree in which the myocilin K423E mutation(MYOCK423E)causes autosomal dominant glaucoma with diagnoses ranging from juvenile-onset OAG(JOAG)to late adult-onset POAG in the heterozygotes(HTZ).To explain this extreme variability,we hypothesized that a second gene,called a modifier,was interacting with MYOC,the primary disease *** goals were(I)to map the modifier on the human genome and;(II)to characterize the symptoms affected genetically by the *** symptoms are called ***:Three hundred seventy-five CA members were studied using four quantitative endophenotypes:age of maximal intra-ocular pressures(IOPmax),IOPs progression,progression of cup to disk ratios and age-at-onset(AAO)defined as age at which ocular hypertension(OHT)was first detected with IOP≥22 ***-wide linkage analysis was performed by genotyping 408 genetic markers in 184 CA *** unbiased pedigree-based algorithm was designed to identify the individuals who were double-mutants,i.e.,these individuals carried one MYOCK423E mutation(i.e.,they were HTZ,affected or not)and they also carry simultaneously a DNA mutation within the ***:Out of the 375 CA family members investigated,156 were HTZ for the MYOCK423E mutation.120 HTZ were affected with OAG or OHT with treatment while the remaining 36 HTZ were *** ranged from 7 to 63 years old;4 individuals over 50 years old were still *** preceded optic nerve damage in>98%of the HTZ carriers,confirming that AAO reflected the true severity of the *** modifier showed strong inherited effects on 2 of the 4 endophenotypes:AAO and *** next mapped with very high confidence the modifier locus for AAO at chromosome *** genotyping with additional markers refined th

关键词： Blindness genomics complex genetic disorder gene-gene interactions biostatistics

*** dissection of myocilin(MYOC)-induced glaucoma reveals that the modifier of glaucoma 1(MOG1)locus encodes a gene which prevents ocular hypertension

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Annals of Eye Science 2019年第1期 199-199页

作者： Vincent Raymond Pascal Belleau Rose Arseneault Jean-Louis Anctil Gilles Côté marcel amyot Patrick Laplante Laurent Lamalice Stéphane Dubois Fahed Elian Michael A.Walter Québec Glaucoma Network CHUL at CHU de Québec-UniversitéLaval Québec CityQCCanada Molecular Medicine UniversitéLavalQuébec CityQCCanada Cold Spring Harbor Laboratory NYUSA Department of Ophthalmology UniversitéLavalQuébec CityQCCanada Department of Ophthalmology Universitéde MontréalMontréalQCCanada Medical Genetics University of AlbertaEdmontonABCanada Ophthalmologists from Province of Québec QuébecQCCanada

Background:Pathogenic mechanisms leading to open-angle glaucoma(OAG)are genetically *** involve neuroinflammation,elevation of intra-ocular pressures(IOP)and optic nerve hypersensitivity to cellular *** mapped a locus at chromosome 20q13 that contains a modifier gene for glaucoma *** searching for its identity,we named this gene modifier of glaucoma 1(MOG1).The goal of this study is to characterize the mechanism by which MOG1 delays the age of onset of glaucoma when OAG is caused by mutations in the MYOC *** hypothesized that MOG1 mechanism may be linked to a specific endophenotype and thus dissected ocular phenotypes present in a large French-Canadian MYOC glaucoma ***:We studied 375 members of the CA pedigree in which autosomal dominant OAG is caused by the MYOCK423E *** this family,wild-type MOG1(normal form)delays the age-at-onset(AAO)of *** records of MYOCK423E carriers were reviewed to extract the values of four quantitative traits portraying four endophenotypes:(I)age of maximal intra-ocular pressure(IOP max),(II)IOP progression,(III)rate of optic nerve degeneration and,(IV)AAO defined as the age at which IOP≥22 mmHg or age at which optic disk degeneration was first *** were tested for their heritability.A three-stage algorithm was designed to detect double mutants who carry the MYOCK423E mutation and putative MOG1 *** traits values of double-mutants were then ***:We found 156 individuals who were heterozygotes(HTZ)for *** hundred and twenty of these were classified affected as they were OAG or had treatment for ocular hypertension(OHT)with IOP≥22 *** other 36 HTZ were *** two endophenotypes,AAO and IOP max,showed significant *** was the 1st symptom detected in 99%of the affecteds;it always preceded optic nerve *** of the affecteds ranged from 7 to 63 years old while rates of optic nerve degenera

关键词： Blindness glaucoma genetics modifier myocilin

Quantification of particle separation using electrostatically charged spray mist in a dust chamber

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Particuology 2021年第5期19卷 92-98页

作者： marcel Zillgitt Eberhard Schmidt Institute of Particle Technology Rainer Gruenter StraBeBuilding FFCampusFreudenbergBergische Universitat Wuppertal42119 WuppertalGermany

In order to improve the efficiency of reducing fine dust emissions from diffuse sources,the commonly used water mist can be electrostatically ***,the attraction between particles and droplets increases due to electrostatic field *** the experimental investigations carried out,an electrostatic two-fluid nozzle was used to generate a charged spray mist according to the principle of charging by *** a chamber,dispersed dust was precipitated with the spray mist,while detecting the laser light *** means of comparative measurements it could be shown that faster sedimentation and separation takes place through electrostatic *** variations regarding the use of compressed air and water were investigated and the sedimentation time of the particle-droplet mixture in the chamber was shown.A size distribution was then calculated from the laser light attenuation,which shows that the proportion of small particles decreases with spray ***,the influence of the polarity of droplets and solid particles on the reduction measure was determined.

关键词： Dust separation Spray mist Electrostatic Dust chamber Laser light attenuation Charging by induction

Converging links between adult-onset neurodegenerative Alzheimer’s disease and early life neurodegenerative neuronal ceroid lipofuscinosis?

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Neural Regeneration Research 2023年第7期18卷 1463-1471页

作者： marcel Klein Guido Hermey Institute for Molecular and Cellular Cognition Center for Molecular Neurobiology HamburgUniversity Medical Center Hamburg-EppendorfHamburgGermany

Evidence from genetics and from analyzing cellular and animal models have converged to suggest links between neurodegenerative disorders of early and late ***,we summarize emerging links between the most common late life neurodegenerative disease,Alzheimer’s disease,and the most common early life neurodegenerative diseases,neuronal ceroid *** studies reported an overlap of clinically diagnosed Alzheimer’s disease and mutations in genes known to cause neuronal ceroid *** data strongly suggest dysfunction of intracellular trafficking mechanisms and the autophagy-endolysosome system in both types of neurodegenerative *** suggests shared cytopathological processes underlying these different types of neurodegenerative diseases.A better understanding of the common mechanisms underlying the different diseases is important as this might lead to the identification of novel targets for therapeutic concepts,the transfer of therapeutic strategies from one disease to the other and therapeutic approaches tailored to patients with specific ***,we review dysfunctions of the endolysosomal autophagy pathway in Alzheimer’s disease and neuronal ceroid lipofuscinoses and summarize emerging etiologic and genetic overlaps.

关键词： Alzheimer’s disease autophagy Batten disease CLN3 disease dementia endosome lysosome neurodegeneration neuronal ceroid lipofuscinosis presenilin

ON THE EXISTENCE OF SOLUTIONS TO A BI-PLANAR MONGE-AMPèRE EQUATION

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Acta Mathematica Scientia 2020年第2期40卷 379-388页

作者： Ibrokhimbek AKRAMOV marcel OLIVER Institut für Angewandte Analysis Universitat Ulm89069 UlmGermany School of Engineering and Science Jacobs University28759 BremenGermany

In this article,we consider a fully nonlinear partial differential equation which can be expressed as a sum of two Monge-Ampere operators acting in different two-dimensional coordinate *** equation is elliptic,for example,in the class of convex *** show that the notion of Monge-Ampere measures and Aleksandrov generalized solutions extends to this equation,subject to a weaker notion of convexity which we call bi-planar *** the equation is also elliptic in the class of bi-planar convex functions,the contrary is not necessarily *** is a substantial difference compared to the classical Monge-Ampere equation where ellipticity and convexity *** provide explicit counter-examples:classical solutions to the bi-planar equation that satisfy the ellipticity condition but are not generalized solutions in the sense *** conclude that the concept of generalized solutions based on convexity arguments is not a natural setting for the bi-planar equation.

关键词： Fully nonlinear elliptic equations generalized solution bi-planar convexity

Pathogenesis and clinical management of arboviral diseases

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

World Journal of Virology 2025年第1期14卷 9-50页

作者： Victoria Cenci Dietrich Juan Marcos Caram Costa Marina Maria Gomes Leite Oliveira Carlos Eduardo Oliveira Aguiar Luis Guilherme de Oliveira Silva marcel Silva Luz Fabian Fellipe Bueno Lemos Fabrício Freire de Melo Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Arboviral diseases are viral infections transmitted to humans through the bites of arthropods,such as mosquitoes,often causing a variety of pathologies associated with high levels of morbidity and *** the past decades,these infections have proven to be a significant challenge to health systems worldwide,particularly following the considerable geographic expansion of the dengue virus(DENV)and its most recent outbreak in Latin America as well as the difficult-tocontrol outbreaks of yellow fever virus(YFV),chikungunya virus(CHIKV),and Zika virus(ZIKV),leaving behind a substantial portion of the population with complications related to these ***,the world is experiencing a period of intense globalization,which,combined with global warming,directly contributes to wider dissemination of arbovirus vectors across the ***,all continents remain on high alert for potential new ***,this review aims to provide a comprehensive understanding of the pathogenesis of the four main arboviruses today(DENV,ZIKV,YFV,and CHIKV)discussing their viral characteristics,immune responses,and mechanisms of viral evasion,as well as important clinical aspects for patient *** includes associated symptoms,laboratory tests,treatments,existing or developing vaccines and the main associated complications,thus integrating a broad historical,scientific and clinical approach.

关键词： Arboviruses Arbovirus infections Dengue Zika virus Yellow fever Chikungunya virus Clinical diagnosis Pathogenesis Flavivirus Togaviridae infections

Incidence and mortality of acute and chronic pancreatitis in the Netherlands:A nationwide record-linked cohort study for the years 1995-2005

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Gastroenterology 2013年第20期19卷 3018-3026页

作者： BW marcel Spanier Marco J Bruno marcel GW Dijkgraaf Department of Gastroenterology and Hepatology Rijnstate Hospital6800 TA ArnhemThe Netherlands Department of Gastroenterology and Hepatology Erasmus Medical Center3015 CE RotterdamThe Netherlands Clinical Research Unit Academic Medical Center1105 AZ AmsterdamThe Netherlands

AIM:To analyze trends in incidence and mortality of acute pancreatitis(AP) and chronic pancreatitis(CP) in the Netherlands and for international standard ***:A nationwide cohort is identified through record linkage of hospital data for AP and CP,accumulated from three nationwide Dutch registries:the hospital discharge register,the population register,and the death certificate ***-and age-group specific incidence rates of AP and CP are defined for the period 2000-2005 and mortality rates of AP and CP for the period ***,incidence and mortality rates over time are reported for Dutch and international(European and World Health Organization) standard ***:Incidence of AP per 100000 persons per year increased between 2000 and 2005 from 13.2(95%CI:12.6-13.8) to 14.7(95%CI:14.1-15.3).Incidence of AP for males increased from 13.8(95%CI:12.9-14.7) to 15.2(95%CI:14.3-16.1),for females from 12.7(95%CI:11.9-13.5) to 14.2(95%CI:13.4-15.1).Irregular patterns over time emerged for *** mean incidence per 100000 persons per year was 1.77,for males 2.16,and for females *** for AP fluctuated during 1995-2005 between 6.9 and 11.7 per million persons per year and was almost similar for males and *** CP,mortality for males fluctuated between 1.1(95%CI:0.6-2.3) and 4.0(95%CI:2.8-5.8),for females between 0.7(95%CI:0.3-1.6) and 2.0(95%CI:1.2-3.2).Incidence and mortality of AP and CP increased markedly with *** rates were lowest for World Health Organization standard ***:Incidence of AP steadily increased while incidence of CP *** for both AP and CP remained fairly *** burden and health care costs probably will increase because of an ageing Dutch population.

关键词： Acute pancreatitis Chronic pancreatitis Epidemiology Incidence Mortality

The big data challenge-and how polypharmacology supports the translation from pre-clinical research into clinical use against neurodegenerative diseases and beyond

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Neural Regeneration Research 2024年第8期19卷 1647-1648页

作者： Sven marcel Stefan Muhammad Rafehi Drug Development and Chemical Biology Lübeck Institute of Experimental Dermatology(LIED)University of Lübeck and University Medical Center Schleswig-HolsteinLübeckGermany Department of Pathology Section of NeuropathologyTranslational Neurodegeneration Research and Neuropathology LabUniversity of Oslo and Oslo University HospitalOsloNorway School of Medical Sciences Faculty of Medicine and HealthUniversity of SydneySydneyNSWAustralia Institute of Clinical Pharmacology University Medical Center GöttingenGöttingenGermany Department of Medical Education Augsburg University MedicineAugsburgGermany

Introductory comments:The identification and validation of disease-modifying proteins are fundamental aspects in drug ***,the m ultifactority of n eurodegen era tive diseases poses a real challenge for targeted ***,the behavior of individually(over-)expressed to rget proteins in vitro is likely to differ from their actual functional behavior when embedded in cascades and pathways in vivo.

关键词： translation beyond likely

On breakthroughs and limits: Resolving structural fine-tuning of photosynthetic supercomplexes

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Molecular Plant 2024年第2期17卷 224-226页

作者： Eunchul Kim marcel Dann Division of Environmental Photobiology National Institute for Basic BiologySOKENDAlOkazaki 444-8585Japan Department of Basic Biology The Graduate University for Advanced StudiesSOKENDAlOkazaki 444-8585Japan Bio-Inspired Energy Conversion Technical University of DarmstadtSchnittspahnstraBe 1064287 DarmstadtGermany

Dynamic regulation of photosynthetic supercomplexes is a key strategy allowing plants to adjust their light-harvesting system in response to varying environmental light conditions(Bassi and Dall'Osto,2021).State transition(i.e.,acclimative re-distribution of peripheral antennae between photosystems[PSs]I and II)is one such regulation mechanism that maintains excitation balance between PSl and PSll.

关键词： complexes breakthrough maintain