检索结果-南通市图书馆

novel TInF2 gene mutation in dyskeratosis congenita with extremely short telomeres:A case report

World Journal of Clinical Cases 2022年第33期10卷 12440-12446页

作者： Verónica Judith Picos-Cárdenas Saúl Armando Beltrán-Ontiveros JoséAlfonso Cruz-Ramos JoséAlfredo Contreras-Gutiérrez Eliakym Arámbula-Meraz Carla Angulo-Rojo alma marlene guadrón-llanos Emir Adolfo Leal-León Dora María Cedano-Prieto Juan Pablo Meza-Espinoza Laboratorio de Genética Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Centro de Investigación y Docencia en Ciencias de la Salud Hospital Civil de CuliacánUniversidad Autónoma de SinaloaCuliacán 80030SinaloaMexico Departamento de Clínicas Médicas Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Facultad de Medicina Universidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Genética y Biología Molecular Facultad de Ciencias Químico-BiológicasUniversidad Autónoma de SinaloaCuliacán 80010SinaloaMexico Laboratorio de neurociencias Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Diabetes y Comorbilidades Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Facultad de Medicina Universidad Autónoma de TamaulipasMatamoros 87349TamaulipasMexico

BACKGROUnD Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia,nail dystrophy,and abnormal skin *** genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance,including *** SUMMARY Here,we report a female patient who presented thrombocytopenia,anemia,reticulate hyperpigmentation,dystrophy in fingernails and toenails,and leukoplakia on the tongue.A histopathological study of the skin showed dyskeratocytes;however,a bone marrow biopsy revealed normal cell *** patient was diagnosed with dyskeratosis congenita,but her family history did not reveal significant ***-exome sequencing showed a novel heterozygous punctual mutation in exon 6 from the TInF2 gene,namely,nM_001099274.1:-c.854delp.(Val285-Alafs*32).An analysis of telomere length showed short telomeres relative to the patient’s *** The disease in this patient was caused by a germline novel mutation of TInF2 in one of her parents.

关键词： Dyskeratosis congenita TInF2 Germline mutation novel mutation Short telomeres Case report

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

Breaking paradigms: Long non-coding RnAs forming gene fusions with potential implications in cancer

引用

Genes & Diseases 2024年第3期11卷 311-323页

作者： David Sanchez-Marin Macrina Beatriz Silva-Cazares Fany Iris Porras-Reyes Rebeca Garcia-Roman alma D.Campos-Parra Posgrado en Ciencias Biologicas Facultad de MedicinaUniversidad Nacional Autonoma de MexicoCiudad de MexicoC.P.04360Mexico Unidad Academica Multidisciplinaria Region Altiplano Universidad Autonoma de San Luis Potost(UASLP)Carretera a Cedral Km 5+600Ejido San Jose de la TrojesMatehualaSan Luis PotosiC.P.78760Mexico Servicio de Anatomia Patologica Instituto Nacional de Cancerologia(INCan)Nino JesuisTlalpanCiudaddeMexicoC.P.14080Mexico Instituto de Salud Publica Universidad Veracruzana(UV)Av.Dr LuisDr.Castelazo Ayala s/nCol.Industrial AnimasXalapaVeracruzC.P.91190Mexico

Long non-coding RnAs(lncRnAs)are non-coding RnAs longer than 200 nucleotides with dynamic regulatory *** interact with a wide range of molecules such as DnA,RnA,and proteins to modulate diverse cellular functions through several mechanisms and,if deregulated,they can lead to cancer development and ***,it has been described that IncRnAs are susceptible to form gene fusions with mRnAs or other IncRnAs,breaking the paradigm of gene fusions consisting mainly of protein-coding ***,their biological significance in the tumor phenotype is still ***,their recent identification opens a new line of research to study their biological role in tumor-igenesis,and their potential as biomarkers with clinical relevance or as therapeutic *** present study aimed to review the IncRnA fusions identified so far and to know which of them have been associated with a potential *** address the current challenges to deepen their study as well as the reasons why they represent a future therapeutic window incancer.

关键词： Cancer Genefusions IncRnAs ncRnAs Therapy

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

Fate and Behavior of Tetracycline Resistance Genes in Activated Carbon Adsorption

引用

Journal of Water Resource and Protection 2024年第1期16卷 1-16页

作者： Sri Anggreini alma Rizky Aurellya Wenqing Li Fusheng Li Graduate School of Engineering Gifu University Gifu Japan Graduate School of natural Science and Technology Gifu University Gifu Japan River Basin Research Center Gifu University Gifu Japan

The accessibility of tetracycline resistance gene (tetG) into the pores of activated carbon (AC), as well as the impact of the pore size distribution (PSD) of AC on the uptake capacity of tetG, were investigated using eight types of AC (four coal-based and four wood-based). AC showed the capability to admit tetG and the average reduction of tetG for coal-based and wood-based ACs at the AC dose of 1 g·L-1 was 3.12 log and 3.65 log, respectively. The uptake kinetic analysis showed that the uptake of the gene followed the pseudo-second-order kinetics reaction, and the uptake rate constant for the coal-based and wood-based ACs was in the range of 5.97 × 10-12 - 4.64 × 10-9 and 7.02 × 10-11 - 1.59 × 10-8 copies·mg-1·min-1, respectively. The uptake capacity analysis by fitting the obtained experiment data with the Freundlich isotherm model indicated that the uptake constant (KF) values were 1.71 × 103 - 8.00 × 109 (copies·g-1)1-1/n for coal-based ACs and 7.00 × 108 - 3.00 × 1010 (copies·g-1)1-1/n for wood-based ones. In addition, the correlation analysis between KF values and pore volume as well as pore surface at different pore size regions of ACs showed that relatively higher positive correlation was found for pores of 50 - 100 Å, suggesting ACs with more pores in this size region can uptake more tetG. The findings of this study are valuable as reference for optimizing the adsorption process regarding antibiotic resistance-related concerns in drinking water treatment.

关键词： Antibiotic Resistance Genes Adsorption Activated Carbon Drinking Water Treatment

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

Childhood Papillary Thyroid Carcinoma: A Case Report

引用

Case Reports in Clinical Medicine 2024年第4期13卷 108-114页

作者： alma Al Mansour Hayder Makki Hamadi Mahmoud Elshafey Mohamed Maryam Alkhatry Alqassemi Hospital Emirates Health Services Sharjah UAE Ibrahim Bin Hamad Obaidulla Hospital Ras Al Khaimah UAE

Background: Thyroid cancer is a rare disease yet the most common endocrine malignancy in pediatrics. Unlike adult patients, children with thyroid nodules typically don’t complain of pain, soreness, or difficulty swallowing. Additionally, using the recommended therapy for adults to treat paediatrics is not appropriate. There is an unmet need for updated unique guidelines for the management of papillary thyroid carcinoma (PTC) in paediatrics and adolescents. Case Report: A 12-year-old girl had an atypical presentation of metastatic PTC in lymph nodes. She was treated initially with hemi-thyroidectomy, followed by total thyroidectomy. A multidisciplinary team followed her up till successful results were found. Conclusion: Due to the difference in pathophysiology between thyroid tumors in children and adults, a unique approach to PTC management is to be implemented. Further trials are required for a better understanding of risk factors, the likelihood of recurrence, and the long-term side effects of the chosen management plan.

关键词： Papillary Thyroid Carcinoma Childhood Thyroidectomy Case Report

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

Deep optics preconditioner for modulation-free pyramid wavefront sensing

引用

Photonics Research 2024年第2期12卷 301-312页

作者： FELIPE GUZMÁn JORGE TAPIA CAMILO WEInBERGER nICOLÁS HERnÁnDEZ JORGE BACCA BEnOIT nEICHEL ESTEBAn VERA School of Electrical Engineering Pontificia Universidad Católica de Valparaı´soValparaı´soChile Department of Systems Engineering Universidad Industrial de SantanderBucaramangaColombia Laboratoire d’Astrophysique de Marseille MarseilleFrance

The pyramid wavefront sensor(PWFS)can provide the sensitivity needed for demanding adaptive optics applications,such as imaging exoplanets using the future extremely large telescopes of over 30 m of diameter(D).However,its exquisite sensitivity has a limited linear range of operation,or dynamic range,although it can be extended through the use of beam modulation—despite sacrificing sensitivity and requiring additional optical *** by artificial intelligence techniques,this work proposes to train an optical layer—comprising a passive diffractive element placed at a conjugated Fourier plane of the pyramid prism—to boost the linear response of the pyramid sensor without the need for cumbersome *** develop an end-2-end simulation to train the diffractive element,which acts as an optical preconditioner to the traditional least-square modal phase estimation *** results with a large range of turbulence conditions show a noticeable improvement in the aberration estimation performance equivalent to over 3λ∕D of modulation when using the optically preconditioned deep PWFS(DPWFS).Experimental results validate the advantages of using the designed optical layer,where the DPWFS can pair the performance of a traditional PWFS with 2λ∕D of *** and adding an optical preconditioner to the PWFS is just the tip of the iceberg,since the proposed deep optics methodology can be used for the design of a completely new generation of wavefront sensors that can better fit the demands of sophisticated adaptive optics applications such as ground-to-space and underwater optical communications and imaging through scattering media.

关键词： process optics pyramid

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

Using dummy data for RFID tag and reader authentication

引用

Digital Communications and networks 2022年第5期8卷 804-813页

作者： Baha’A.Alsaify Dale R.Thompson Abdallah alma'aitah Jia Di Department of network Engineering and Security Jordan University of Science and TechnologyIrbid21163Jordan Computer Science and Computer Engineering Department University of ArkansasFayetteville72701ARUSA

Radio-Frequency IDentification(RFID)technology is an essential enabler of a multitude of intelligent *** robust authentication of RFID system components is critical in providing trustworthy data delivery from/to *** this paper,we propose an authentication protocol based on monitoring the transmissions between readers and tags in the *** proposed authentication scheme is based on injecting decoys within the exchanged communications(between RFID readers and tags)and is used in the authentication ***,the proposed authentication scheme is mathematically modeled and validated using extensive *** simulations results show that the proposed scheme provides a 100%confidence level in the authentication of tags and detection of compromised readers.

关键词： RFID Authentication Dummy data Security Decoys

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

EP Aquarii:A new Picture of the Circumstellar Envelope

引用

Research in Astronomy and Astrophysics 2024年第3期24卷 83-105页

作者： Pham T.nhung Do T.Hoai Pierre Darriulat Pham Tuan-Anh Pham n.Diep nguyen B.ngoc Tran T.Thai Department of Astrophysics Vietnam National Space CenterVietnam Academy of Science and Technology18Hoang Quoc VietNghia DoCau GiayHa Noivietnam

new analyses of earlier alma observations of oxygen-rich AGB star EP Aquarii are presented,which complete a previously published analysis and offer a different interpretation of the morpho-kinematics of the circumstellar *** birth of the equatorial density enhancement(EDE)is shown to occur very close to the star where evidence for rotation has been *** to the star and where outflows have been observed:their interaction with the gas of the nascent EDE is seen to play an important role in the development of the wind and the evolution of its radial velocity from 8 to 10 km s^(-1) on the polar symmetry axis to~2 km s^(-1) at the *** implies complex morpho-kinematics:making reliable interpretations with reasonable confidence is *** particular,it questions an earlier interpretation implying the presence of a white dwarf companion orbiting the star at an angular distance of -0″4 from its *** proposes instead an interpretation in terms of a standard mass ejection associated with a shock wave leaving a void of emission in its *** Doppler velocity wings are seen to consist of two components,the upper velocity end of the global wind,reaching above±12 km s^(-1),and an effective line broadening,confined within 200 mas from the center of the star,reaching above±20 km s^(-1) and interpreted as caused by the pattern of shock waves resulting from the interaction between stellar pulsation and convective cell partition.

关键词： stars AGB and post-AGB-(stars) circumstellar matter-radio lines stars

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

Characterization of Evolutionarily ConservedMotifs Involved in Activity and Regulation of theABA-InSEnSITIVE （ABI） 4 Transcription Factor

引用

Molecular Plant 2014年第2期7卷 422-436页

作者： Josefat Gregorio alma Fabiola Hernández-Bernal Elizabeth Cordoba Patricia León Departamento de Biología Molecular de Plantas Instituto de Biotecnología Universidad Nacional Autónoma de México Av. Universidad # 2001 Col. Chamilpa Cuernavaca Morelos C.p. 62210 Mexico

In recent years, the transcription factor ABI4 has emerged as an important node of integration for externaland internal signals such as nutrient status and hormone signaling that modulates critical transitions during the growthand development of plants. For this reason, understanding the mechanism of action and regulation of this protein rep-resents an important step towards the elucidation of crosstalk mechanisms in plants. However, this understanding hasbeen hindered due to the negligible levels of this protein as a result of multiple posttranscriptional regulations. To betterunderstand the function and regulation of the ABI4 protein in this work, we performed a functional analysis of severalevolutionarily conserved motifs. Based on these conserved motifs, we identified ortholog genes of ABI4 in differentplant species. The functionality of the putative ortholog from Theobroma cacao was demonstrated in transient expres-sion assays and in complementation studies in plants. The function of the highly conserved motifs was analyzed aftertheir deletion or mutagenesis in the Arabidopsis ABI4 sequence using mesophyll protoplasts. This approach permitted usto immunologically detect the ABI4 protein and identify some of the mechanisms involved in its regulation. We identi-fied sequences required for the nuclear localization （AP2-associated motif） as well as those for transcriptional activationfunction （LRP motif）. Moreover, this approach showed that the protein stability of this transcription factor is controlledthrough protein degradation and subcellular localization and involves the AP2-associated and the PEST motifs. We dem-onstrated that the degradation of ABI4 protein through the PEST motif is mediated by the 26S proteasome in responseto changes in the sugar levels.

关键词： ABI4 posttranslational regulation transcription factor sugar signaling abscisic acid-insensitive protea-some nuclear localization signals

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

Authors and Open Access:Effective Ways to Achieve OA in China

引用

图书情报工作 2005年第12期49卷 17-25页

作者： alma Swan Key Perspectives Ltd. 48 Old Coach Road Playing PlaceTruroTR3 6ETUnited Kingdom

Although there are effective methods available to authors for providing open access to their work, more than half are still not doing so and provision in China is poorer than in many other countries. There are a number of issues and concerns that dissuade authors from making their work open access: some are still unaware of the concept and of the increased visibility and impact that open access brings; many are unfamiliar with open access journals and how they work; many are uninformed about self-archiving and for some of those who are aware of the possibility of providing open access by this means, concerns about copyright and technical issues *** all these worries can be addressed with simple facts that reassure and encourage authors to adopt open access to benefit themselves,their research and their teaching. There is also a wealth of resources now available to authors that provide information and advice on open access and its effects. As institutions and research funders, both with a strong interest in maximising the visibility and impact of research they support, begin to develop formal policies on open access, models for its provision are emerging. The optimal model is a frills' variant) or by service providers who add functionality or selectivity to provide users with value-enhanced products.

关键词：中国 OA 信息资源网格技术学术材料资源共享

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

罪犯改造教育课程的有效性探究：纳米比亚中部地区的案例研究

罪犯改造教育课程的有效性探究：纳米比亚中部地区的案例研究

引用

作者： alma Amweelo 华东师范大学

学位级别：硕士

惩教改造和心理与社会项目旨在为罪犯提供生存技能和知识,使其能够在刑满获释后重新融入社会。然而,目前只有长期罪犯受益于惩教改造,短期罪犯没有接受相关教育,没有受益的罪犯刑满释放后会继续犯罪,这不禁令人质疑纳米比亚惩教计划的... 详细信息

惩教改造和心理与社会项目旨在为罪犯提供生存技能和知识,使其能够在刑满获释后重新融入社会。然而,目前只有长期罪犯受益于惩教改造,短期罪犯没有接受相关教育,没有受益的罪犯刑满释放后会继续犯罪,这不禁令人质疑纳米比亚惩教计划的有效性。本研究旨在调查纳米比亚惩教计划实施的有效性,主要针对两个机构,目的是调查和确定罪犯惩教改造课程的有效性,实施的惩教计划是否能让罪犯为重新融入社区做好准备,评估惩教课程的实施情况,调查罪犯在英语、沟通能力、数学、阅读及各种技能方面的熟练程度,最后向部门提出一些建议并完成对两个机构的调查研究目标。研究者发现,惩教课程可以通过培养认知技能、确保再就业和降低累犯率来帮助监禁中的罪犯。惩教课程通过开发和实现囚犯的认知技能改变了他们的生活,具有重大意义。罪犯教育课程的存在及其意义毋庸置疑。本文主要讨论了阻碍罪犯教育课程全面实施的挑战以及可能的解决方法。研究采用由案例研究组成的定性研究法,主题研究法用于分析数据并收集结果。研究结果表明,要实现惩教课程的有效性,需要在保障所有资源到位的情况下全面开展此类计划。显然,当所有罪犯都接受该机构提供的改造项目时,计划可能会产生积极的结果。此外,研究发现,这两个机构提供的计划实施效果很好,但计划需要按照政策的规定开始交付,并获得市场认可。研究鼓励政策制定者为性犯罪者制定手册并解决他们的风险需求,同时要注重短期罪犯这些最有可能再犯罪的群体,他们的风险需求没有得到解决,因此应该为他们提供短期改造课程。然而,研究者在调查结果中对有效性概念产生了疑问。最后,由于惩教课程的改进和审查可能会带来巨大且积极的变化,该研究为纳米比亚惩教计划的政策制定者提供了一些改进和扩大研究的建议。

关键词：有效性罪犯惩教课程改造实施重新融入

来源：

同方学位论文库评论

在线全文

同方学位论文库

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：