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Advances in genetic developmental and epileptic encephalopathies with movement disorders: 《Acta Epileptologica》2025年第1期22-31,共10页Meng Yuan Xiaoqian Wang Zuozhen Yang Huan Luo Jing Gan Rong Luo; supported by National Natural Science Foundation of China(82071686);Clinical Research Fund of West China Second University Hospital,Sichuan University(KL115,KL072).; Genetic developmental and epileptic encephalopathies(DEE)are often associated with movement disorders.Accurate identification and classification of movement disorders are essential for management of these diseases.In ...; 关键词：Developmental and epileptic encephalopathies GENETIC Movement disorders

Brain-derived neurotrophic factor signaling in the neuromuscular junction during developmental axonal competition and synapse elimination: 《Neural Regeneration Research》2025年第2期394-401,共8页Josep Tomàs Víctor Cilleros-Mañé Laia Just-Borràs Marta Balanyà-Segura Aleksandra Polishchuk Laura Nadal Marta Tomàs Carolina Silvera-Simón Manel M.Santafé Maria A.Lanuza; supported by Catalan Government,Nos.2014SGR344(to JT),2017SGR704(to JT),2021SGR01214(to MAL);MCIN/AEI/10.13039/501100011033/by“ERDF A way of making Europe,”Nos.SAF2015-67143(to JT),PID2019-106332GB-I00(to JT and MAL)and PID2022-141252NB-I00(to MAL).; During the development of the nervous system,there is an overproduction of neurons and synapses.Hebbian competition between neighboring nerve endings and synapses performing different activity levels leads to their el...; 关键词：acetylcholine release adenosine receptors axonal competition brain-derived neurotrophic factor calcium channels motor end-plate muscarinic acetylcholine receptors postnatal synapse elimination serine kinases tropomyosin-related kinase receptorB

HIPPO artificial intelligence:Correlating automated radiographic femoroacetabular measurements with patient-reported outcomes in developmental hip dysplasia: 《World Journal of Experimental Medicine》2024年第4期136-146,共11页Ahmed Alshaikhsalama Holden Archer Yin Xi Richard Ljuhar Joel E Wells Avneesh Chhabra; the University of Texas Southwestern Institutional Review Board(approval No.Stu-2022-1014).; BACKGROUND Hip dysplasia(HD)is characterized by insufficient acetabular coverage of the femoral head,leading to a predisposition for osteoarthritis.While radiographic measurements such as the lateral center edge angle...; 关键词：Hip dysplasia Patient reported outcome measures Deep-learning Artificial intelligence RADIOGRAPHS Lateral center edge angle

Roles of Setbp1 in developmental hematopoiesis and acute myeloid leukemia: 《Genes & Diseases》2024年第6期16-19,共4页Fei Ao Fan Chen Minhong Lv Yuming Cao Jinfeng Xu Jingbo Xu Anskar Yu-Hung Leung Qiwen Yuan Li Wang Bailiang He; supported by grants from the National Natural Science Foundation of China (No.32000569);the Basic and Applied Basic Research Foundation of Guangdong Province,China (No.2019A1515110281).; Gain-of-function somatic mutations of SET binding protein 1(SETBP1)result in the accumulation of SETBP protein and are detected in 17%of secondary acute myeloid leukemia(AML)patients.1 In fact,high expression of SETBP...; 关键词：ACUTE MYELOID LEUKEMIA

Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis: 《Acta Epileptologica》2024年第4期336-342,共7页Nanxiang Shen Zhihong Zhuo Xiangyun Luo Bingmei Li Xuqing Lin Sheng Luo Zilong Ye Pengyu Wang Na He Yiwu Shi Weiping Liao; supported by the National Natural Science Foundation of China(82271505);Guangzhou Medical University Student Innovation Ability Promoting Program(2022A045).; Background The TSC1 gene encodes a growth inhibitory protein hamartin,which plays a crucial role in negative regulation of the activity of mTORC1(mechanistic target of rapamycin complex 1).TSC1 has been associated wit...; 关键词：TSC1 gene De novo variant Focal epilepsy Developmental and epileptic encephalopathy

SPOUT1 variants associated with autosomalrecessive developmental and epileptic encephalopathy: 《Acta Epileptologica》2024年第4期360-372,共13页Wenwei Liu Kai Gao Xilong Du Sijia Wen Huifang Yan Jingmin Wang Yong Wang Conglei Song Li Lin Taoyun Ji Weiyue Gu Yuwu Jiang; supported by the National Key Research and Development Program of China(2020YFA0804000);National Natural Science Foundation of China(82171435,81971211,81601131);Beijing Natural Science Foundation(7212109);Key Project of Clinical Medicine Research of National Clinical Research Center for Child Health and Disorders,Children’s Hospital of Chongqing Medical University(NCRCCHD-2021-KP-02);Capital Health Research and Development of Special(2020-1-4071);Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases(BZ0317);Fundamental Research Funds for the Central Universities(BMU2017JI002,BMU2018XY006,PKU2017LCX06).; Background Developmental and epileptic encephalopathy(DEE)is a group of neurodevelopmental disorders characterized by early-onset seizures predominantly attributed to genetic causes.Nevertheless,numerous patients rema...; 关键词：EPILEPSY epileptic VARIANTS

Morphological characteristics,developmental dynamics,and gene temporal expressions across various development stages of Aphis gossypii sexual female: 《Journal of Cotton Research》2024年第4期372-385,共14页LÜJingli WANG Liuyu ZHANG Kaixin LI Dongyang GAO Mengxue GUO Lixiang TANG Zhijuan GAO Xueke ZHU Xiangzhen WANG Li JI Jichao LUO Junyu CUI Jinjie; funded by National Natural Science Foundation of China(No.32102214);Agricultural Science and Technology Innovation Program of Chinese Academy of Agricultural Sciences;China Agriculture Research System(CARS-15-21);National Key R&D Program of China(2022YFD1400300)。; Background Aphis gossypii(Hemiptera:Aphididae)is a worldwide polyphagous phloem-feeding agricultural pest,and it can produce offspring by sexual or asexual reproduction.Compared with dozens of generations by parthenog...; 关键词：Aphis gossypii Sexual female Growth and development OOGENESIS Time-course transcriptome

Hot issues on Chinese expert consensus of prostate cancer management: 《UroPrecision》2024年第4期163-179,I0011,I0021,共19页Sujun Han Xinan Sheng Xiaojian Qin Peng Wu Zhonghua Yang Hao Zeng Hao Liu Baojun Wang Zhien Zhou Gang Song Dingwei Ye Weijun Qin Xinghuan Wang Qiang Wei Jian Huang Tianxin Lin Xu Zhang Zhigang Ji Nianzeng Xing; Prostate cancer is one of the most common solid tumors in men,and its incidence continues to rise in China.Several guidelines have been developed and published to facilitate the standardization of diagnosis and treatm...; 关键词：developmental urology prostate cancer urologic oncology

Early developmental levels of children with autism spectrum disorder with different adaptive behaviors:a retrospective analysis: 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2024年第11期1031-1038,共8页Chao SONG Ting HAN Lifei HU Ning SHAO Zepeng WANG Yan JIN Tingting CHEN Zhiwei ZHU; supported by the Zhejiang Provincial Natural Science Foundation of China(No.LTGY24H090005);the Autism Research Special Fund of Zhejiang Foundation for Disabled Persons(No.2023006)。; The Diagnostic and Statistical Manual of Mental Disorders,5th Edition(DSM-5)(American Psychiatric Association,2013)defines autism spectrum disorder(ASD)as a complex neurodevelopmental disorder that begins in early chi...; 关键词：SPECTRUM Psychiat DEVELOPMENTAL

Polystyrene microplastics disrupted physical barriers, microbiota composition and immune responses in the cecum of developmental Japanese quails: 《Journal of Environmental Sciences》2024年第10期225-235,共11页Lingyang Jing Yuxin Zhang Qingyu Zhang Hongfeng Zhao; The work was supported by the National Natural Science Foundation of China(No.33372201).; Microplastics,a new type of emerging pollutant,is ubiquitous in terrestrial and water environments.Microplastics have become a growing concern due to their impacts on the environment,animal,and human health.Birds also...; 关键词：Microplastics Gut barrier HISTOLOGY Inflammation Immunity Oxidative stress

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