INHERITED

作品数:131被引量:173H指数:6
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相关领域:医药卫生更多>>
相关作者:管敏鑫唐霄雯耿昌明王晓平李振波更多>>
相关机构:江苏省苏北人民医院上海市第一人民医院上海交通大学医学院附属瑞金医院上海市公共卫生临床中心更多>>
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相关基金:国家自然科学基金中国博士后科学基金国家重点基础研究发展计划上海市浦江人才计划项目更多>>
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“No-donor” liver transplantation被引量:1
《Hepatobiliary & Pancreatic Diseases International》2025年第1期23-28,共6页Yong-Fa Huang Zhi-Jun Zhu 
supported by grants from Capital’s Funds for Health Improvement and Research (2024–1–2022);Beijing Nat-ural Science Foundation (7244318)。
Liver transplantation is hindered by organ shortage. The potential way to relieve this issue is to expand the donor pool via extending the donor criteria and make full use of all available grafts. The concept of “no-...
关键词:Domino liver transplantation Cross-auxiliary domino liver transplantation Inherited metabolic liver-based disease 
Decolonizing Communication of Autism Inclusion:Interrogating Inherited Ableist Practices
《Journalism and Mass Communication》2024年第6期244-251,共8页Jess Block Nerren Royce Felten 
It is time to interrogate our practices related to autism inclusion(and exclusion).For instance,how can inclusive,anti-ableist practices be communicated within an ongoing,colonial,oppressive,and ableist framework?To t...
关键词:DISABILITY Autism inclusion Public Relations COMMUNICATION Decolonial theory DisCrit 
Whole-genome sequencing identifies novel genes for autism in Chinese trios
《Science China(Life Sciences)》2024年第11期2368-2381,共14页Suhua Chang Jia Jia Liu Yilu Zhao Tao Pang Xiangyu Zheng Zhirui Song Anyi Zhang Xuping Gao Lingxue Luo Yanqing Guo Jing Liu Li Yang Lin Lu 
supported by the National Program for Brain Science and Brain-like Intelligence Technology of China (2021ZD0200800);Beijing Municipal Science and Technology Commission (Z181100001518005);the National Natural Science Foundation of China (31401139, 32170613, 81671358, 81873803);the Natural Science Foundation of Beijing Municipality (7232225)
Autism spectrum disorder(ASD)is a neurodevelopmental disorder with high genetic heritability but heterogeneity.Fully understanding its genetics requires whole-genome sequencing(WGS),but the ASD studies utilizing WGS d...
关键词:AUTISM whole-genome sequencing de novo variants inherited variants SNV structural variants 
Gene therapy and gene editing strategies in inherited blood disorders
《Journal of Genetics and Genomics》2024年第11期1162-1172,共11页Xuemei Song JinLei Liu Tangcong Chen Tingfeng Zheng Xiaolong Wang Xiang Guo 
supported by Research Fund of Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital(30420230006);the National Natural Science Foundation of China(Nos.82300142);Sichuan Science and Technology Program(2022ZYD0131)。
Gene therapy has shown significant potential in treating various diseases,particularly inherited blood disorders such as hemophilia,sickle cell disease,and thalassemia.Advances in understanding the regulatory network ...
关键词:Gene therapy Inherited blood disorders Therapeutic targets β-Hemoglobinopathies Gene editing 
Inherited glycosylphosphatidylinositol deficiency:a review from molecular and clinical perspectives被引量:1
《Acta Biochimica et Biophysica Sinica》2024年第8期1234-1243,共10页Shan Li Qi Tang Yuwu Jiang Xing Chen 
supported by the grants from the National Natural Science Foundation of China(Nos.22321005 and 22037001 to X.C.;Nos.22A20339,81601131,82071263,and 12026606 to Y.J.);the Beijing Natural Science Foundation(No.5244034 to Q.T.);supported by the National Postdoctoral Program for Innovative Talent.X.C.is a recipient of Xplorer Prize.
Glycosylphosphatidylinositol(GPI)is a highly conserved post-translational modification in eukaryotes,which is essential for anchoring various proteins to the cell surface.Dysfunction of GPI biogenesis leads to human d...
关键词:GLYCOSYLATION GLYCOSYLPHOSPHATIDYLINOSITOL inherited GPl deficiency 
Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations
《Asian Journal of Andrology》2024年第4期426-432,共7页Yu-Fan Yang Hai-Lu Ma Xi Wang Min Nie Jiang-Feng Mao Xue-Yan Wu 
Natural Science Foundation of Beijing(grant No.7212080);National Natural Science Foundation of China(grant No.81971375);National High Level Hospital Clinical Research Funding(2022-PUMCH-D-002);CAMS Innovation Fund for Medical Sciences(CIFMS 2021-I2M-1-003);National High Level Hospital Clinical Research Funding(2022-PUMCH-C-028).
Fibroblast growth factor receptor 1(FGFR1)mutations are associated with congenital hypogonadotropic hypogonadism(CHH)through inheritance or spontaneous occurrence.We detected FGFR1 mutations in a Chinese cohort of 210...
关键词:congenital hypogonadotropic hypogonadism de novo FGFR1 INHERITED 
Ultrafast laser processing of camouflaged metals by topography inherited multistep removal for information encryption被引量:1
《Nano Research》2024年第8期7242-7249,共8页Guangzhi He Jianfeng Yan Jiawang Xie Ming Qiao Ma Luo Yuzhi Zhao Haoze Han 
supported by the National Natural Science Foundation of China(No.52075289).
Surfaces with micro-nanoscale structures show different optical responses,including infrared reflection,thermal radiation,and protective coloration.Direct realization of structure camouflage is important for material ...
关键词:topography inherited removal ultrafast laser structure camouflage optical response information encryption 
Noteworthy phenomena in pediatric inherited cardiomyopathy
《World Journal of Pediatrics》2024年第6期635-637,共3页Jin-Hang Jiang Jie Tian Bo Pan 
Pediatric cardiomyopathy has an early onset and poor prognosis.Previously,it was referred to as idiopathic cardiomyopathy due to unknown etiology.However,recent advances in molecular genetics and molecular biology hav...
关键词:CARDIOMYOPATHY PEDIATRIC ETIOLOGY 
Two adjacent NLR genes conferring quantitative resistance to clubroot disease in Arabidopsis are regulated by a stably inherited epiallelic variation被引量:1
《Plant Communications》2024年第5期148-162,共15页Antoine Gravot Benjamin Lie gard Leandro Quadrana Florian Veillet Yoann Aigu Tristan Bargain Juliette Benejam Christine Lariagon Jocelyne Lemoine Vincent Colot Maria J.Manzanares-Dauleux Melanie Jubault 
Clubroot caused by the protist Plasmodiophora brassicae is a major disease affecting cultivated Brassica-ceae.Using a combination of quantitative trait locus(QTL)fine mapping,CRISPR-Cas9 validation,and extensive analy...
关键词:METHYLATION CLUBROOT Plasmodiophora brassicae AT5G47260 AT5G47280 ADR1-L3 ddm1 
Perspectives of genetic management strategy for inherited cardiovascular diseases in China
《Chinese Medical Journal》2024年第8期959-961,共3页Yaoyao Zhang Yanjiang Zheng Mengyuan Dai Kaiyu Zhou Lijun Fu Yuxuan Guo Yihua He Fen Li Rui Gao Donghui Zhang Xujie Liu Jie Tian Yimin Hua Yifei Li Lang Qin 
Key R&D Program of Sichuan Province of China(No.2021YFQ0061);Science and Technology Department of Sichuan Province(No.2022ZYD0067 and MSGC20230024);Natural Science Foundation of China(Nos.82070324,82001496,and 82270249);Project of Chengdu Science and Technology Bureau(No.2021-YF05-02110-SN);China Postdoctoral Science Foundation(Nos.2020M680149 and 2020T130087ZX)
Inherited cardiovascular diseases(CVDs)threaten human health and pose an enormous economic burden worldwide.Genetic alteration is a major risk factor for many CVDs.These disorders are usually controlled by a pair of a...
关键词:DIAGNOSIS hundreds dealing 
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