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*** model of riboflavin transporter deficiency(RTD)disorder reveals deficits in synaptic transmission and movement

Genes & Diseases 2024年第4期11卷 120-123页

作者： Ramesh K.Narayanan Gonzalo perez-siles Kamila A.Marzec alexandra Boyling Brent Neumann Manoj P.Menezes Marina L.Kennerson Northcott Neuroscience Laboratory ANZAC Research Institute-Sydney Local Health DistrictSydneyNSW 2139Australia Sydney Medical School University of SydneySydneyNSw 2050Australia ANZAC Research Institute-Sydney Local Health District SydneyNSW 2139Australia Neuroscience Program Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental BiologyMonash UniversityMelbourneVictoria 3800Australia TY Nelson Department of Neurology and Neurosurgery and Kids Neuroscience Children's Hospital at WestmeadWestmeadSydneyNSW2145Australia Paediatrics and Child Health The University of SydneySydneySydneyNSW 2145Australia Molecular Medicine Laboratory Concord General Repatriation HospitalSydneyNSW 2139Australia

Riboflavin transporter deficiency(RTD),previously known as Brown-Vialetto-Van Laere syndrome,is a childhoodonset neurodegenerative disorder characterized by sensory and motor neuron degeneration causing ataxia,muscle weakness,optic atrophy,and respiratory *** in SLC52A2 and SLC52A3,solute carrier family members that encode riboflavin(RF)transporters RFVT2 and RFVT3,are known to cause RTD types 2 and 3,respectively.

关键词： RTD degeneration TD

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Genetic basis of atrial fibrillation

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Genes & Diseases 2016年第4期3卷 257-262页

作者： Oscar Campuzano alexandra perez-Serra Anna Iglesias Ramon Brugada Cardiovascular Genetics Center University of GironaIDIBGISpain Department of Medical Sciences School of MedicineUniversity of GironaSpain Cardiomyopathies Unit Hospital Josep TruetaGironaSpain

Atrial fibrillation is the most common sustained arrhythmia and remains as one of main challenges in current clinical *** disease may be induced secondary to other diseases such as hypertension,valvular heart disease,and heart failure,conferring an increased risk of stroke and sudden *** studies have provided evidence that genetic factors play an important role and up to 30%of clinically diagnosed patients may have a family history of atrial *** date,several rare variants have been identified in a wide range of genes associated with ionic channels,calcium handling protein,fibrosis,conduction and *** advances in clinical,genetic and molecular basis have been performed over the last decade,improving diagnosis and ***,the genetics of atrial fibrillation is complex and pathophysiological data remains still unraveling.A better understanding of the genetic basis will induce accurate risk stratification and personalized clinical *** this review,we have focused on current genetics basis of atrial fibrillation.

关键词： Arrhythmia Atrial fibrillation Genetics Heart failure Sudden cardiac death

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A database of experimentally measured lithium solid electrolyte conductivities evaluated with machine learning

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npj Computational Materials 2023年第1期9卷 2265-2278页

作者： Cameron J.Hargreaves Michael W.Gaultois Luke M.Daniels Emma J.Watts Vitaliy A.Kurlin Michael Moran Yun Dang Rhun Morris alexandra Morscher Kate Thompson Matthew A.Wright Beluvalli-Eshwarappa Prasad Frédéric Blanc Chris M.Collins Catriona A.Crawford Benjamin B.Duff Jae Evans Jacinthe Gamon Guopeng Han Bernhard T.Leube Hongjun Niu Arnaud J.perez Aris Robinson Oliver Rogan Paul M.Sharp Elvis Shoko Manel Sonni William J.Thomas Andrij Vasylenko Lu Wang Matthew J.Rosseinsky Matthew S.Dyer Department of Chemistry University of LiverpoolLiverpool L697ZDUK Leverhulme Research Centre for Functional Materials Design Materials Innovation FactoryUniversity of LiverpoolLiverpool L73NYUK Department of Computer Science University of LiverpoolLiverpool L693BXUK Stephenson Institute for Renewable Energy University of LiverpoolLiverpool L697ZFUK

The application of machine learning models to predict material properties is determined by the availability of high-quality *** present an expert-curated dataset of lithium ion conductors and associated lithium ion conductivities measured by *** *** dataset has 820 entries collected from 214 sources;entries contain a chemical composition,an expert-assigned structural label,and ionic conductivity at a specific temperature(from 5 to 873°C).There are 403 unique chemical compositions with an associated ionic conductivity near room temperature(15–35°C).The materials contained in this dataset are placed in the context of compounds reported in the Inorganic Crystal Structure Database with unsupervised machine learning and the Element Movers *** dataset is used to train a CrabNet-based classifier to estimate whether a chemical composition has high or low ionic *** classifier is a practical tool to aid experimentalists in prioritizing candidates for further investigation as lithium ion conductors.

关键词： spectroscopy lithium classifier

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Abstracts from the 15th International Myopia Conference

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Eye and Vision 2016年第1期3卷 211-221页

作者： alexandra benavent.-perez Ann Nour Tobin Ansel Kathleen Abarr Luying Yan Keisha Roden David Troilo Chanyi Lu Miaozhen Pan Min Zheng Jia Qu Xiangtian Zhou Christine F. Wildsoet Fan Lu Jie Chen Jinhua Bao Liang Hu Qinmei Wang Zibing Jin Frances Rucker Stephanie Britton Stephan Hanowsky Molly Spatcher Hui-Ying Kuo Ching-Hsiu Ke I-Hsin Kuo Chien-Chun Peng Han-Yin Sun Ian G. Morgan Jeremy A. Guggenheim Rupal L. Shah Cathy Williams Jinglei Yang Peter S. Reinach Sen Zhang Wenfeng Sun Bo Liu Fen Li Xiaoqing Li Aihua Zhao Tianlu Chen Wei Jia Jun Jiang Haoran Wu Kazuo Tsubota Hiroko Ozawa Hidemasa Torii Shigemasa Takamizawa Toshihide Kurihara Kazuno Negishi Klaus Graef Daniel Rathbun Frank Schaeffel Ladan Ghodsi William K. Stell Machelle T. Pardue Ranjay Chakraborty Han na Park Curran S. Sidhu P. Michael Iuvone Michael J Collins Nethrajeith Srinvasalu Sally A. McFadden Paul N. Baird Pablo Artal Pauline Cho SW Cheung Pei-Chang Wu Quan V. Hoang Duk C. Lee Erica G. Landis Michael A. Bergen Curran Sidhu Samer Hattar Richard A. Stone Ravi Metlapally Ruiqin Li Qinglin Xu Hong Zhong Chenglin Pan Weizhong Lan Xiaoning Li Ling Chen Zhikuan Yang Scott A. Read Seang-Mei Saw Shi-Jun Weng Xiao-Hua Wu Kang-Wei Qian Yun-Yun Li Guo-Zhong Xu Furong Huang Xiong-Li Yang Yong-Mei Zhong Earl L Smith, III Baskar Arumugam Li-Fang Hung Lisa A. Ostrin Klaus Trier Monica Jong Brien A. Holden Thomas Chuen Lam Samantha Shan Bing Zuo Dennis Yan-yin Tse Jingfang Bian King-Kit Li Quan Liu Chi-ho To Timothy J. Gawne John T. Siegwart, Jr. Alexander H. Ward Thomas T. Norton Yan Zhang Yue Liu Carol Ho Eileen Phan Abraham Hang Emily Eng Christine Wildsoet Department of Biological Sciences SUNY College of Optometry New York NY 10036 USA School of Optometry and Ophthalmology and Eye Hospital Wenzhou Medical University Wenzhou Zhejiang 325027 China Center for Eye Disease & Development School of Optometry & Vision Science Program University of California Berkeley Berkeley CA 94720-2020 USA Wenzhou Medical University Wenzhou Zhejiang 325027 China Biomedical Science and Disease New England College of Optom Boston MA USA School of Optometry Chung Shan Medical University Taichung City 402 Taiwan Institute of Medicine Chung Shan Medical University Taichung City 402 Taiwan Division of Biochemistry and Molecular Biology Research School of Biology Australian National University Canberra Australia State Key Laboratory of Ophthalmology and Division of Preventive Ophthalmology Zhongshan Ophthalmic Center Sun Yat-Sen University Guangzhou China School of Optometry & Vision Sciences Cardiff University Cardiff UK School of Social and Community Medicine University of Bristol Bristol UK School of and Eye Hospital Wenzhou Medical University Wenzhou Zhejiang 325027 China State Key Laboratory Cultivation Base and Key Laboratory of Vision Science Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry Wenzhou Zhejiang 325027 People’s Republic of China Shanghai Key Laboratory of Diabetes Mellitus and Center for Translational Medicine Shanghai Jiao Tong University Affiliated Sixth People’s Hospital Shanghai 200233 China Eye Hospital of Wenzhou Medical University Wenzhou Zhejiang 325027 China Department of Ophthalmology Keio University School of Medicine Shinjuku-ku Tokyo 160-8582 Japan General Medicine Ichikawa Medical Center Urayasu City Chiba 279-0001 Japan Ophthalmic Research Institute University of Tuebingen 72076 Tuebingen Germany Bernstein Center for Computational Neuroscience Tuebingen 72076 Tuebingen Germany Werner Reichardt Centre for Integrative Neuroscience Otfried-Mueller-Straße 25 Tueb

To assess the peripheral refractive changes that occur when eye growth decelerates in *** We measured peripheral refraction and on-axis vitreous chamber depth on a total of 53 marmosets;36 treated monocularly for 12 weeks 9 hrs/day(26 with-5 D contact lenses,10 with+5 D)and 17 untreated *** the 26 marmosets treated with-5 D,10 wore contact lenses 9 hrs/day without interruptions and were mea-sured at the end of 10 weeks of treatment(T10)and after 4 weeks of recovery(R14).Eight had both contact lenses removed for 30 mins twice/day(mid-morning and mid-afternoon)during the first four weeks of treatment(early interruption group)and eight had the lenses removed during the second four weeks of treatment(late interruption group).The two interruption groups were measured after 4,8 and 12 weeks of treatment only(T4,T8,T12).

关键词： removed treatment untreated

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