VARIANT

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相关机构：兰州大学华中科技大学广州医科大学捷星显示科技(福建)有限公司更多>>
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Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family:A case report
《World Journal of Clinical Cases》2025年第20期49-56,共8页Xiao Xiao Ping Wang He Wang Han-Bing Xie Shan-Ling Liu 
Supported by National Key Research and Development Program of China,No.2022YFC2703302.
BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic fa...
关键词：Floating-harbor syndrome SRCAP gene Exome sequencing Prenatal genetic diagnosis Sanger sequencing Case report 
Combined in silico/in vitro approaches for identifying modulators of the activity of the p.Tyr110Cys Carnitine O-Acetyltransferase(CRAT)variant associated to an early onset case of Leigh syndrome
《Acta Pharmacologica Sinica》2025年第4期1123-1136,共14页Lucas Cafferati Beltrame Maria Noemi Sgobba Luna Laera Valeria Scaglione Sabino Todisco Serena Barile Anna Lucia Francavilla Danila Imperia De Luca Michele Montaruli Vito Porcelli Lorenzo Guerra Anna De Grassi Mariateresa Volpicella Ciro Leonardo Pierri 
supported by EU funding within the MUR PNRR Extended Partnership initiative on Emerging Infectious Diseases(Project No.PE00000007,INF‐ACT);MUR PNRR National Center for Gene Therapy and Drugs based on RNA Technology(Project No.CN_00000041);The authors would also like to thank for the IT resources made available by ReCaS(https://www.recas-bari.it/index.php/en/),a project funded by the MIUR(Italian Ministry for Education,University and Research)in the“PON Ricerca e Competitivita 2007-2013‐Azione I-Interventi di rafforzamento strutturale”PONa3_00052,Avviso 254/Ric,University of Bari.
Carnitine O-acetyltransferase(CRAT)is a crucial enzyme involved in mitochondrial energy metabolism.Alterations in CRAT activity have emerged as significant contributors to the pathogenesis of Leigh syndrome and relate...
关键词：carnitine acetyltransferase Leigh-like syndrome mitochondrial encephalomyopathy 3D modeling and virtual screening of chemical libraries SURAMIN ARTEMISININ 
Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease
《Acta Epileptologica》2025年第1期124-130,共7页Zain Aslam Bibi Zubaida Ranjha Khan Mazhar Badshah Muhammad Naeem 
Zain Aslam(112-36551-2BM1-037);Bibi Zubaida(212-52789-2BM2-080);supported by the Higher Education Commission of Pakistan under Indigenous Ph.D.Fellowships Program.
Background Autosomal recessively inherited progressive myoclonic epilepsy of Lafora,which is also known as Lafora disease,is a fatal neurodegenerative disorder.It affects individuals in late childhood or early adolesc...
关键词：Progressive myoclonic epilepsy Lafora bodies Laforin DNA sequencing Mutation 
Diagnostic Efficiency of Tongue-Coating Microbiome in Patients With SARS-CoV-2 Omicron Variant Infection and Recovery
《Infectious Microbes & Diseases》2025年第1期54-64,共11页Junyi Sun Ying Sun Yawen Zou Haiyu Wang Benchen Rao Xinyue Zhang Liwen Liu Guizhen Zhang Guangying Cui Qi Liu Jiyuan Xing Ning Xu Chunfu Zheng Zujiang Yu Zhigang Ren 
supported by grants from the National Key Research and Development Program of China(2022YFC2303100);the Henan Province Epidemic Prevention and Control Emergency Scientific Research Project(221111311700 and 221111311600);the Independent and Innovation Project for Graduate Students of Zhengzhou University(20230444);Funding for Scientific Research and Innovation Team of The First Affiliated Hospital of Zhengzhou University(QNCXTD2023002).
SARS-CoV-2 variants still pose threats to human public health.However,there has been little research regarding alterations in the tongue-coating microbiome in patients infected with the Omicron variant(PIOVs).Herein,w...
关键词：COVID-19 SARS-CoV-2 Omicron variant recovery patients tongue-coating microbiome 
Non-intrusive anomaly detection for carving machine systems based on CAE-GMHMM under multiple working conditions
《High Technology Letters》2025年第1期1-11,共11页QIU Xiang CHEN Wei WU Qi HU Fo LU Kangdi 
Supported by the National Natural Science Foundation of China(No.62203390).
This paper is concerned with a non-intrusive anomaly detection method for carving machine systems with variant working conditions,and a novel unsupervised detection framework that integrates convolutional autoencoder(...
关键词：non-intrusive detection variant working condition rotating machinery motion control system hidden Markov model(HMM) 
Multi-omics analysis reveals a novel NFE2L3 variant impairing choroidal vasculature development in high myopia and myopic maculopathy
《National Science Review》2025年第2期5-8,共4页Jiangnan He Luyao Ye Hannan Xu Huanjie Yang Juan Shen Menghan Li Shijun Weng Dongyue Jiao Chen Chu Qijun Liao Haidong Zou Jianfeng Zhu Chenji Wang Xun Xu 
supported by the National Key Research and Development Program of China(2022YFC2502800,2019YFC0840607,2022YFA1104200 and 2022YFC2703102);Na-tional Natural Science Foundation of China(82171100,92357301,32370726,82304089 and 82401301);Natural Science Foundation of Shang-hai(23ZR1459200 and 22ZR1406600);Shanghai Key Disciplines to strengthen the construction of Public health system Three-year action Plan(2023-2025)(GWVI-11.1-22);Shanghai Shenkang Hospi-tal Clinical Research Program(SHDC12020127);Science and Technology Research Program of Shanghai(9DZ2282100);China Postdoctoral Science Foundation(2024M752442)。
Myopic maculopathy(MM)is a severe complication of high myopia,character-ized by degenerative lesions in the mac-ular retina,choroid and sclera[1].The pooled prevalence of MM is estimated to be 2.1%in the world populat...
关键词：MYOPIA MACULOPATHY prognosis 
A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility
《Asian Journal of Andrology》2025年第1期113-119,共7页Zheng Zhou Qi Qi Wen-Hua Wang Jie Dong Juan-Juan Xu Yu-Ming Feng Zhi-Chuan Zou Li Chen Jin-Zhao Ma Bing Yao 
supported by the China Postdoctoral Science Foundation Grant(2023M734294);Jiangsu Provincial Medical Key Discipline Cultivation Unit(JSDW202215);the National Natural Science Foundation of China(No.82001618).
Primary ciliary dyskinesia(PCD)is a clinically rare,genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections,male infertility,tympanitis,and laterality abnormalities...
关键词：CFAP300 variant male infertility primary ciliary dyskinesia sperm flagella whole-exome sequencing 
A parameter-variant trochoidal-like tool path planning method for chatter-free and high-efficiency milling
《Chinese Journal of Aeronautics》2025年第2期559-576,共18页Zhaoliang LI Jinbo NIU Shuoxue SUN Yuwen SUN 
supported by the National Natural Science Foundation of China(Grant Nos.U22A20202 and 52275477).
Trochoidal milling is known for its advantages in machining difficult-to-machine materials as it facilitates chip removal and tool cooling.However,the conventional trochoidal tool path presents challenges such as lowe...
关键词：Trochoidal milling Milling stability Tool path planning Machining efficiency Bull-nose end mill 
PCSK9 V474I germline variant drives breast cancer metastasis
《Life Metabolism》2025年第1期1-3,共3页Hai Wang Zhiming Shao 
Breast cancer metastasis remains the leading cause of mortality in patients,yet its mechanisms are poorly understood.A recent Cell paper highlights the pivotal role of the proprotein convertase subtilisin/kexin type 9...
关键词：METASTASIS cancer MORTALITY 
Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia:A case report
《World Journal of Hepatology》2025年第2期286-292,共7页Kiwako Miyamoto Sonoko Kondo Takeo Kondo Ryou Ishikawa Ryosuke Tani Tomoko Inoue Keiji Matsunaga Tetsuo Minamino Takashi Kusaka 
BACKGROUND Heterozygous familial hypobetalipoproteinemia(FHBL)is a semi-autosomal disorder that is caused mainly by an APOB variant.It is usually asymptomatic and rarely leads to non-alcoholic steatohepatitis(NASH).CA...
关键词：Nonalcoholic steatohepatitis Familial hypobetalipoproteinemia HYPOLIPIDEMIA APOB variant Vitamin E Case report 
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