检索结果-南通市图书馆

Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

引用

Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch verena klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Clustering of voltage-gated ion channels as an evolutionary trigger of myelin formation

引用

Neural Regeneration Research 2024年第8期19卷 1631-1632页

作者： Henrike Ohm Simone Rey Christian klambt Institut fur Neuro-und Verhaltensbiologie MunsterGermany

Neurons carry apical dendrites that perceive information and a basal axon that transmits the computed information towards its to *** axon originates at the axon hillock which is followed by the axon initial ***,action potentials are initiated that are based on millisecond long openings of specific voltagegated sodium and potassium channels that are conserved in all parahoxozoa(Placozoa,Cnidaria,Bilateria)(Li et al.,2015).

关键词： initiated carry potassium

来源：

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

Astrocyte chloride,excitatory-inhibitory balance and epilepsy

引用

Neural Regeneration Research 2024年第9期19卷 1887-1887页

作者： verena Untiet Maiken Nedergaard Alexei Verkhratsky Division of Glial Disease and Therapeutics Center for Translational NeuromedicineUniversity of CopenhagenCopenhagenDenmark Division of Glial Disease and Therapeutics Center for Translational NeuromedicineDepartment of NeurosurgeryUniversity of Rochester Medical CenterRochesterNYUSA Faculty of Biology Medicine and HealthThe University of ManchesterManchesterUK Achucarro Centre for Neuroscience IKERBASQUEBasque Foundation for ScienceBilbaoSpain

Excitation and inhibition are at the core of brain function and *** sustain the activity of neuronal networks over time and space,glutamatergic excitation is balanced by GABAergic *** equipoise of excitation and inhibition,known as the excitation/inhibition(E/I)balance,is crucial for proper brain *** E/I balance is highly dynamic and shifts across different brain states:wakefulness primarily augments excitatory activity,while sleep promotes a decrease in excitation and an increase in inhibition(Bridi et al.,2020).Neuronal activity during various brain states is primarily regulated by neurotransmitters(Schiemann et al.,2015),alongside non-synaptic mechanisms that operate on a slower *** non-synaptic mechanisms are many,with the ionic composition of the extracellular space playing a significant role;altering extracellular ion concentrations affects sleep,arousal,electroencephalogram patterns,and behavioral states(Ding et al.,2016).

关键词： epilepsy excitatory excitation

来源：

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

ITPK1 is an InsP/ADP phosphotransferase that controls phosphate signaling in Arabidopsis

引用

Molecular Plant 2024年第7期17卷 1151-1157页

作者： Esther Riemer Danye Qiu Debabrata Laha Robert K.Harmel Philipp Gaugler verena Gaugler Michael Frei Mohammad-Reza Hajirezaei Nargis Parvin Laha Lukas Krusenbaum Robin Schneider Adolfo Saiardi Dorothea Fiedler Henning J.Jessen Gabriel Schaaf Ricardo F.H.Giehi 不详

(Molecular Plant 14,1864-1880;November 12021)We identified a mistake made when calculating the absolute concentrations of inositol(pyro)phosphates derived from CE-ESl-MS measurements reported in the originally published version of our *** to a calculation error when determining concentrations per fresh biomass,the absolute values shown in the manuscript are approximately 30-fold lower than they should *** mistake affects Figures 2D,3C,4C,and 7D and Figures S4,S11B,S13,and *** all conclusions made in the article referred to relative differences between genotypes and treatments,they remained unaffected by these mistakes.

关键词： ipt Arabidopsis absolute

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Emerging noble metal-free Mo-based bifunctional catalysts for electrochemical energy conversion

引用

Nano Research 2022年第12期15卷 10234-10267页

作者： Saswati Santra verena Streibel Ian D.Sharp Walter Schottky Institute and Physics Department Technical University of MunichAm Coulombwall 485748GarchingGermany

The transition from a global economy dependent on fossil fuels to one based on sustainable energy conversion technologies presents the primary challenge of the *** water electrolyzers and metal-air batteries with earth-abundant bifunctional transition metal(TM)catalysts that efficiently catalyse the hydrogen and oxygen evolution reactions(HER and OER)and the oxygen reduction and evolution reactions(ORR and OER),respectively,reduces the cost and system complexity,while also providing prospects for accelerated scaling and sustainable material *** the TMs,earth-abundant molybdenum(Mo)-based multifunctional catalysts are especially promising and have attracted considerable attention in recent *** with a brief introduction to HER,OER,and ORR mechanisms and parameters governing their bifunctionality,this comprehensive review focuses on such Mo-based multifunctional *** review and discuss recent progress achieved through the formation of Mo-based compounds,heterostructures,and nanoscale composites,as well as by doping,defect engineering,and nanoscale sculpting of Mo-based *** systems discussed in detail are based on Mo chalcogenides,carbides,oxides,nitrides,and phosphides,as well as Mo alloys,highlighting specific opportunities afforded by synergistic interactions of Mo with both non-metals and non-noble ***,we discuss the future of Mo-based multifunctional electrocatalysts for HER/OER,ORR/OER,and HER/ORR/OER,analysing emerging trends,new opportunities,and underexplored avenues in this promising materials space.

关键词： molybdenum-based electrocatalysts bifunctional electrocatalysts hydrogen evolution reaction oxygen reduction reaction oxygen evolution reaction

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Integrated Disaster Risk Management(IDRM):Elements to Advance Its Study and Assessment

引用

International Journal of Disaster Risk Science 2023年第3期14卷 343-356页

作者： Vicente Sandoval Martin Voss verena Florchinger Stephan Lorenz Parisa Jafari Disaster Research Unit Freie Universitat Berlin12165 BerlinGermany

This study analyzed the international key literature on integrated disaster risk management(IDRM),considering it a dynamic sociocultural process subjected to the historical process of social formation,offering a closer look at the concept while exploring conceptual elements and ideas to advance IDRM in both national and international ***,the study adopted a literature review strategy,following the Preferred Reporting Items for Systematic Reviews and MetaAnalyses(PRISMA)approach,combined with qualitative content *** article examines the history of IDRM,discusses current challenges for implementation,looks at some experiences,and proposes avenues for further *** findings point out the lack of an overarching IDRM approach,which is characterized by a rather disperse set of ideas and experiences concerning what IDRM is and how it should be operationalized,thereby revealing the need for a more comprehensive theory and methodologies to further advance *** findings highlight that IDRM encompasses different kinds and levels of"integrations"that go from internal(that is,disaster risk reduction and management domains)to external(that is,all societal processes such as sustainable development),including temporal and spatial ***,we are talking about a multidimensional integration of disaster risk *** this regard,the article proposes four dimensions for integration:sectoral,spatial/hierarchical,temporal,and externally with other cross-cutting societal challenges,especially climate change and sustainable *** dimensions cover 29 ideas for indicators or"proto-indicators"to guide the discussion,exploration,and analysis of IDRM in specific contexts.

关键词： Integrated disaster risk management Literature review Proto-indicators Sustainable development

来源：

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

A simple guideline to apply excitation-emission matrix spectroscopy(EEMs)for the characterization of dissolved organic matter(DOM)in anoxic marine sediments

引用

Acta Oceanologica Sinica 2023年第1期42卷 109-119页

作者： Shuchai Gan verena BHeuer Frauke Schmidt Lars Wörmer Kai-Uwe Hinrichs MARUM—Center for Marine Environmental Sciences University of BremenBremenD-28359Germany

Marine sediments represent a major carbon reservoir on *** organic matter(DOM)in pore waters accumulates products and intermediates of carbon cycling in *** application of excitation-emission matrix spectroscopy(EEMs)in the analysis of subseafloor DOM samples is largely unexplored due to the redox-sensitive matrix of anoxic pore ***,this study aims to investigate the interference caused by the matrix on EEMs and propose a guideline to prepare pore water samples from anoxic marine *** parameters determined by fluorescence spectra include 3D-index derived from EEMs after parallel factor analysis(PARAFAC),fluorescence index(FI)(contribution of terrigenous DOM),biological index(BIX)and humification index(HIX)derived from 2D emission ***,we investigated the impacts of extensively-presented ions as typical electron acceptors,which are utilized by anaerobic microbes and stratified in marine sediments:Fe(II),Fe(III),Mn(II)and sulfide in anoxic pore water resulted in biases of fluorescent *** proposed threshold concentrations of these ions when the interference on EEMs *** removal of sulfide from sulfide-rich samples could be achieved by flushing with N_(2)for 2 ***,the tests based on DOM standard were further verified using pristine samples from marine *** was a significant change in the fluorescence spectra of DOM in anoxic sediments from the Rhône *** study demonstrated that the change was caused by oxidation of the matrix rather than the intrinsic alteration of *** was confirmed by extracted DOM via both EEMs analysis and Fourier transform ion cyclotron resonance mass spectrometry(FT-ICR-MS).Slight oxidation of sulfur-containing compounds(e.g.,sulfhydryl)and polyphenol-like compounds ***,a sample preparation sequence is proposed for pore water from anoxic *** method enables measurement with small volumes of the sample(e.g.,50µL in this study)an

关键词： marine subsurface sediment EEMs PARAFAC FT-ICR-MS anaerobic pore water

来源：

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

Effects of progesterone on T-type-Ca^(2+)-channel expression in Purkinje cells

引用

Neural Regeneration Research 2022年第11期17卷 2465-2471页

作者： Annika Eickhoff Jonas Tjaden Sarah Stahlke Matthias Vorgerd verena Theis Veronika Matschke Carsten Theiss Department of Cytology Institute of AnatomyRuhr-University BochumBochumGermany Department of Neurology Neuromuscular Center RuhrgebietUniversity Hospital BergmannsheilRuhr-Universität BochumBochumGermany

Plasticity of cerebellar Purkinje cells(PC)is influenced by progeste rone via the classical progeste rone receptors PR-A and PR-B by stimulating dendritogenesis,spinogenesis,and synaptogenesis in these *** PC cultures were used to analyze progeste rone effects at a molecular level on the voltage-gated T-type-Ca^(2+)-channels Ca_(v)3.1,Ca_(v)3.2,and Ca_(v)3.3 as they helped determine neuronal plasticity by regulating Ca^(2+)-influx in neuronal *** results showed direct effects of progesterone on the mRNA expression of T-type-Ca^(2+)-channels,as well as on the protein kinases A and C being involved in downstream signaling pathways that play an important role in neuronal *** the mRNA expression studies of T-type-Ca^(2+)-channels and protein kinases of the signaling cascade,laser microdissection and purified PC cultures of diffe rent maturation stages were *** staining was also performed to characte rize the localization of T-type-Ca^(2+)-channels in *** rimental progesterone treatment was performed on the purified PC culture for 24 and 48 *** results show that progesterone increases the expression of Ca_(v)3.1 and Ca_(v)3.3 and associated protein kinases A and Cin PC at the mRNA level within 48 hours after treatment at *** effects extend the current knowledge of the function of progesterone in the central nervous system and provide an explanatory approach for its influence on neuronal plasticity.

关键词： Ca_(v)3.1 Ca_(v)3.2 Ca_(v)3.3 neuronal plasticity progesterone protein kinase A protein kinase C Purkinje cells rat cerebellum T-type-Ca^(2+)-channels

来源：

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

ESCRTing in cereals: still a long way to go

引用

Science China(Life Sciences) 2019年第9期62卷 1144-1152页

作者： verena Ibl Department of Ecogenomics and Systems Biology University of Vienna

The multivesicular body(MVB) sorting pathway provides a mechanism for the delivery of cargo destined for degradation to the vacuole or *** endosomal sorting complex required for transport(ESCRT) is essential for the MVB sorting pathway by driving the cargo sorting to its *** efforts in plant research have identified the ESCRT machinery and functionally characterised the first plant ESCRT ***,most studies have been performed in the model plant Arabidopsis thaliana that is genetically and physiologically different to *** crops are important for animal feed and human nutrition and have further been utilized as promising candidates for recombinant protein *** this review,I summarize the role of plant ESCRT components in cereals that are involved in efficient adaptation to environmental stress and grain development.A special focus is on barley(Hordeum vulgare L.) ESCRT proteins,where recent studies show their quantitative mapping during grain development,*** HvSNF7.1 with protein trafficking to protein bodies(PBs) in starchy ***,it is indispensable to identify the molecular key-players within the endomembrane system including ESCRT proteins to optimize and possibly enhance tolerance to environmental stress,grain yield and recombinant protein production in cereal grains.

关键词： ESCRT cereal barley grain endosperm SNF7 abiotic stress biotic stress

来源：

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

COVID-19:Masks do not influence neurocognitive performance during a shift at the emergency department

引用

World Journal of Emergency Medicine 2023年第4期14卷 317-321页

作者： Jürgen Grafeneder verena Fuhrmann Katharina Tscherny Maximilian Niederer Wolfgang Schreiber Harald Herkner Dominik Roth Calvin Lukas Kienbacher Department of Emergency Medicine Medical University of ViennaWien 1090Austria Department of Anaesthesiology and Intensive Care Hospital ScheibbsScheibbs 3270Austria

The COVID-19 pandemic has led to the widespread mandatory use of personal protective equipment(PPE),including filtering face pieces(FFP).Emergency medical care providers now commonly use this equipment.

关键词： COV Mask protective

来源：

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

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：