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Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

HUMAN GENETICS 2015年第1期134卷 123-126页

作者： Romani, Marta Mancini, Francesca Micalizzi, Alessia Poretti, Andrea Miccinilli, Elide Accorsi, Patrizia Avola, Emanuela Bertini, Enrico Borgatti, Renato Romaniello, Romina Ceylaner, Serdar Coppola, Giangennaro D'Arrigo, Stefano Giordano, Lucio Janecke, Andreas R. Lituania, Mario Ludwig, Kathrin Martorell, Loreto Mazza, Tommaso Odent, Sylvie Pinelli, Lorenzo Poo, Pilar Santucci, Margherita Signorini, Sabrina Simonati, Alessandro Spiegel, Ronen Stanzial, Franco Steinlin, Maja Tabarki, Brahim Wolf, Nicole I. Zibordi, Federica Boltshauser, Eugen Valente, Enza Maria IRCCS Casa Sollievo Sofferenza Lab Mendel I-00198 Rome Italy Univ Messina Dept Biol & Environm Sci Messina Italy Johns Hopkins Sch Med Div Pediat Radiol Sect Pediat Neuroradiol Baltimore MD USA Spedali Civil Brescia Pediat Neuropsychiat Div I-25125 Brescia Italy IRCCS Assoc Oasi Maria Santissima Unit Pediat & Med Genet Troina Italy Bambino Gesu Childrens Res Hosp Unit Neuromuscular & Neurodegenerat Disorders Mol Med Lab Rome Italy IRCCS Eugenio Medea Inst Sci Neuropsychiat & Neurorehabil Unit Bosisio Parini Lecco Italy Intergen Genet Diag Res & Educ Ctr Ankara Turkey Univ Salerno Dept Med & Surg Sect Neurosci I-84100 Salerno Italy Fdn IRCCS Ist Neurol C Besta Dev Neurol Div Milan Italy Med Univ Innsbruck Dept Pediat 1 A-6020 Innsbruck Austria Med Univ Innsbruck Div Human Genet A-6020 Innsbruck Austria Galliera Hosp Genoa Italy Univ Padua Dept Med DIMED Surg Pathol & Cytopathol Unit Padua Italy Hosp St Joan de Deu Dept Mol Genet Barcelona Spain CHU Hop Sud Gen Med Serv Rennes France Spedali Civil Brescia Dept Neuroradiol I-25125 Brescia Italy Hosp St Joan de Deu Dept Neurol Barcelona Spain IRCCS Ist Sci Neurol Pediat Neuropsychiat Unit Bologna Italy C Mondino Natl Neurol Inst Ctr Child Neuroophthalmol Unit Child Neurol & Psychiat Pavia Italy Univ Verona Dept Neurol Sci & Movement Neurol Child Neurol I-37100 Verona Italy Emek Med Ctr Genet Inst Afula Israel Reg Hosp Bolzano Genet Counselling Serv Dept Pediat Bolzano Italy Univ Childrens Hosp Dept Pediat Neurol Bern Switzerland Prince Sultan Mil Med City Div Pediat Neurol Riyadh Saudi Arabia

Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. Only 2 out of 17 OFDVI patients (11.7 %) were mutated. A comparison of mutated vs. non-mutated OFDVI patients showed that preaxial and mesoaxial polydactyly, hypothalamic hamartoma and other congenital defects may predict C5orf42 mutations, while tongue hamartomas are more common in negative patients.

关键词： Congenital defect major genes Phenotype C5orf42 gene MUTATE virtual instrument java script

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Development of an Accounting Skills Simulation Practice System Based on the B/S Architecture

INTERNATIONAL JOURNAL OF EMERGING TECHNOLOGIES IN LEARNING

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INTERNATIONAL JOURNAL OF EMERGING TECHNOLOGIES IN LEARNING 2018年第10期13卷 134-145页

作者： Liu, Jianmei Fu, Rong Chongqing Three Gorges Univ Chongqing 404100 Peoples R China

Nowadays, companies are more in need of accounting professionals with both theoretical knowledge and practical abilities. However, the traditional accounting teaching model in colleges and universities cannot train students in both aspects. In order to improve the practical abilities of accounting major students in colleges and universities and promote the accounting teaching upgrade and reform, this paper proposes an accounting skills simulation practice system based on the B/S architecture, aiming at improving the comprehensive abilities of accounting students and teaching efficiency. The technical roadmap of this system adopts the B/S as the network architecture of the teaching system, HTML and java script language as the system programming language and MySQL database as the data storage and management database. The system consists of user administration, knowledge base management, teaching content management, practical test score management and other modules, which not only achieves the self-evaluation on the full set of accounting skills, but also improves the accounting teaching efficiency and helps teachers gain more control over the teaching process. This study can serve as some guidance to colleges and universities in cultivating innovative and practical accounting talents.

关键词： B/S java script MySQL database accounting skills simulation practice system

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scripting JAX-WS

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IEEE INTERNET COMPUTING 2006年第3期10卷 91-94页

作者： Vinoski, S IONA Technologies

If you need to glue together multiple technologies, such as databases, lightweight directory access protocol (LDAP), XML messaging, remote procedure calls (RPCs), and distributed objects, the Ruby programming language... 详细信息

关键词： java API For XML Web Services JAX WS ECMA script For XML E 4 X java script Middleware Programming Languages Jython Celtix

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Tony Cheetham: Our adventures in catalytic and solid-state sciences

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SOLID STATE SCIENCES 2006年第3-4期8卷 231-233页

作者： Thomas, JM Univ Cambridge Dept Mat Sci Cambridge CB2 3QZ England UCL Royal Inst Great Britain Davy Faraday Res Lab London W1S 4BS England

It was early in the 1970s that I first heard the name Tony Cheetham being mentioned. The man who talked about him quite frequently, and in complimentary terms, was Stuart (J.S.) Anderson, the then Head of the Inorganic Chemical Laboratory at the University of Oxford. Stuart-J.S., as he was better known-was at that time arguably the world\'s leading exponent of high resolution electron microscopy (HREM) as a chemical tool. He and a small band of graduate students at Oxford were making major progress in the elucidation of crystallographic shear and block structures formed by non-stoichiometric variants of materials such as rutilitic TiO_2, WO_3 and Nb_2O_5. J.S. felt that the future of solid state chemistry would be profoundly influenced by what should, in principle, be retrievable by HREM. As I was also of the same opinion, and-alone among other Professors of Chemistry in the UK-equally committed to the exploitation of HREM as a powerful new structural tool, J.S. and I frequently talked to one another; and he often invited me to examine the theses of his graduate students in Oxford. He also visited me, not infrequently, at the University College of Wales, Aberystwyth, where I had gathered a small nucleus of enterprising electron microscopists (Eurwyn Lloyd Evans, David Jefferson, Miquel Alario Franco, Julian Palomino Morales and, later, Bob Millward). J.S. told me that only a few members of the Oxford scientific community had appreciated the potential of HREM as an investigative tool, and that only a young man who had been elected to fill the vacancy left by the retirement of the renowned X-ray crystallographer, H.M. (Tiny) Powell, had fully grasped that, in all probability, HREM would be an invaluable structural tool capable of answering several problems that X-ray crystallography could not address. That young man was \"Cheetham\"-as J.S. used frequently to refer to him.

关键词： colleges Catalysis helium graduate students java script High resolution electron microscopy block structures

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SHIPPING SUPPLIES GETS SERIOUS Company knows no boundaries when it comes to delivering mining equipment

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CANADIAN MINING JOURNAL 2011年第10期132卷 16-18页

作者： Noble, Russell

The article reports on the business development of J.S. Redpath Ltd. It mentions that the company sent about 20 full 20-foot containers to different job sites worldwide. According to Jeff Davis, Superintendent of Logistics and Inventory Control of the company, routine shipments in one day can include 10 to 12 or more pieces of different freight. He adds that to have the name of Redpath stamped on the side of the containers has functioned as an assurance to Customs Officers.

关键词： bays java script SHRINK WRAPPING Pride shopping mall piecing Vessel size Lumber and lumbering Mining Equipment WOOD BOX Kissing Shopping Trucks BUBBLE WRAP Paperboards

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A comment on: F.K. Hwang, Y.M. Wang and J.S. Lee, 'Sortability of multi-partitions', Journal of Global Optimization 24 (2002), pp. 463-472

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JOURNAL OF GLOBAL OPTIMIZATION 2004年第1期29卷 121-123页

作者： Rothblum, UG Technion Israel Inst Technol Fac Ind Engn & Management IL-32000 Haifa Israel

We correct a claim, made in [6], that the proof of the key result in [3]about the existence of a monotone optimal multi-partition was incomplete; further, we provide asortability interpretation for the criticized step... 详细信息

关键词： Comment Global optimization Monotone java script journals

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***: Using javascript to Build High-Performance Network Programs

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IEEE INTERNET COMPUTING 2010年第6期14卷 80-83页

作者： Tilkov, Stefan Vinoski, Steve innoQ

One of the more interesting developments recently gaining popularity in the server-side javascript space is ***. It\'s a framework for developing high-performance, concurrent programs that don\'t rely on the m... 详细信息

关键词： Internet javascript Node Node.js Web development functional programming event-driven programming Line of nodes Network programming Internets Web development java script Functional programming

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Pair Programming With Generative AI

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IEEE SOFTWARE 2024年第3期41卷 16-18页

作者： Spinellis, Diomidis Athens Univ Econ & Business Dept Management Sci & Technol Athens 10434 Greece Delft Univ Technol Software Analyt Dept Software Technol NL-2600 AA Delft Netherlands

Generative AI based on large-language models is significantly impacting software development through IDE assistants, cloud-based APIs, and interactive chatbots for coding assistance. It excels in generating and translating code and data, navigating APIs, and creating boilerplate content, thereby enhancing productivity. However, it is prone to generating inaccurate information ("hallucinations"), erroneous code, and potentially introducing security vulnerabilities. To counter these risks, employing automated analysis tools, conducting rigorous testing, and maintaining a deep understanding of computer science concepts are essential. While generative AI can substantially aid development tasks it is not a replacement for human expertise, especially in understanding complex software, its requirements, and architecture.

关键词： Generative Adversarial Networks Artificial Intelligence Codes Security Navigation Encoding Large Language Models Analytical Models Fake News Information Integrity Human Factors Chatbots Pair Programming Software Development Application Programming Interface Security Vulnerabilities Open Source Software Coded Based Static Analysis International Organization For Standardization Software Libraries java script

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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

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HUMAN MOLECULAR GENETICS 2008年第23期17卷 3796-3805页

作者： Kim, Joon Krishnaswami, Suguna Rani Gleeson, Joseph G. Univ Calif San Diego Howard Hughes Med Inst Dept Neurosci La Jolla CA 92093 USA

Joubert syndrome (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, abnormal eye movement, ataxia and mental retardation. Mutations in CEP290 mutations are responsible for the cerebello-oculo-renal subtype of JS that includes kidney cysts and retinal degeneration, two phenotypes commonly linked to ciliopathies. CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS). Here we demonstrate that CEP290 interacts with a centriolar satellite protein PCM-1, which is implicated in BBS4 function. CEP290 binds to PCM-1 and localizes to centriolar satellites in a PCM-1- and microtubule-dependent manner. The depletion of CEP290 disrupts subcellular distribution and protein complex formation of PCM-1. In accord with PCM-1's role in microtubule organization, CEP290 knockdown causes the disorganization of the cytoplasmic microtubule network. Moreover, we show that both CEP290 and PCM-1 are required for ciliogenesis and are involved in the ciliary targeting of Rab8, a small GTPase shown to collaborate with BBS protein complex to promote ciliogenesis. Our results suggest that PCM-1 is a potential mediator that may link CEP290 with BBS proteins in common molecular pathways.

关键词： Protein-Energy Malnutrition Proteins Microtubules electronic bulletin board 蛋白质能量营养不足蛋白质类微管 Protein-Energy Malnutrition Microtubules electronic bulletin boards Meckel syndrome type 1 java script CEP290 gene

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Dynamics of a mechanical interface in shear-banded flow

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EUROPHYSICS LETTERS 1999年第4期46卷 542-548页

作者： Yuan, XF Univ Bristol HH Wills Phys Lab Bristol BS8 1TL Avon England

Shear banding of wormlike micelle solution has been studied in the context of constitutive instability of the Johnson-Segalman (JS) model plus Newtonian stress. We have incorporated a higher-order gradient term of the deformation-rate tensor into the JS model for investigating the dynamics of a mechanical interface in shear-banded flow. Two-dimensional modelling of the new model has been carried out by a general Langrangian-Eulerian scheme. Within the unstable region, our results show that the new term plays an important role in selecting steady-state shear stress and the selected stress is independent of the nominal shear rate. The transit period of reaching the steady state can be much longer than the intrinsic relaxation time of the JS fluid. We have verified the experimental evidence on the existence of mechanical metastable regime, over which hysteresis in flow curve might occur. The model captures many features of experimental results on shear banded flow.

关键词： Flow Relaxation time dynamics java script mechanical interfaces Steady state Hysteresis

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