MISSENSE

作品数：34被引量：64H指数：3
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相关作者：陈静丁丽霞罗成娟王坚敏黄小航更多>>
相关机构：上海交通大学医学院附属上海儿童医学中心更多>>
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De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders
《Genes & Diseases》2025年第2期52-56,共5页Ke Su Yu Ma Mingshan Zhou Yihan Liu Chengjie Li Yonghui Jiang Qihui Wu Gang Peng Yi Wang Shaohua Fan 
supported by the National Key Research and Development Program of China (No.2020YFE0201600,2021YFC2500202 to S.F.,2018YFA0801000 to G.P.);the National Natural Science Foundation of China (No.31970563,32370686 to S.F.,82101486 to Q.W.);the China's 111 Project (No.B13016 to S.F.);the Shanghai Municipal Science and Technology Commission (China) (No.19410741100 to S.F.);the Science and Technology Innovation Plan of Shanghai Science and TechnologyCommission (China) (No.22ZR1414000 to G.P.);the Shanghai Municipal Science and Technology Major Project (No.2018SHZDZX01 to G.P.,2017SHZDZX01 to S.F.);ZJ Lab,and the Shanghai Center for Brain Science and Brain-lnspired Technology (China);the Shanghai Fourth People's Hospital affiliated to Tongji University School of Medicine (No.sykyqd02301 to Q.W.);the Fundamental Research Funds for the Central Universities (China);the Shanghai Pujiang Program (China) (No.21PJ1412100 to Q.W.);the Ningxia Hui Autonomous Region Key Research and Development Project (China) (No.2022BFH02012 to Q.W.);the Science and Technology Commissionof ShanghaiMunicipality,China (No.23ZR1467900 to Q.W.).
Epilepsy is a prevalent and serious neurological disorder affecting more than 65 million individuals worldwide.The etiology of epilepsy is multifaceted,with genetic factors implicated in 70%-80%of epilepsy cases,based...
关键词：EPILEPSY ETIOLOGY CASES 
Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7
《Genes & Diseases》2025年第1期151-154,共4页Aijun Yang Xiaoli Kong Qin Wang Runqing Miao Haixiang Ma Anzhuo Chu Zhengtong Wang Jiaqing Lu Bo Liu Bingcheng Mu Runhan Guo Jiayi Li Xiaoxiao Gongye Huabao Xiong Tao Zhong 
supported by grants from the National Natural Science Foundation of China(No.82171810);the Program of Shandong Provincial TCM Sci-Tech Project(M-2023210).
Pontocerebellar hypoplasia type 7(PCH7)(OMIM#614969)stands as a rare and severe neurodegenerative syndrome marked by distinct characteristics,including neurological decline,hypoplasia in the pons and cerebellum,muscle...
关键词：situated RARE pointed 
Whole-genome sequencing identifies functional genes for environmental adaptation in Chinese sheep
《Journal of Genetics and Genomics》2024年第11期1278-1285,共8页Yinan Niu Yefang Li Yuhetian Zhao Xiaohong He Qianjun Zhao Yabin Pu Yuehui Ma Lin Jiang 
supported by the National Natural Science Foundation of China(32222079,31961143021);the earmarked fund for the Modern Agro-industry Technology Research System(CARS-39-01);the Science and Technology Innovation Project of the Chinese Academy of Agricultural Sciences(ASTIP-IAS01);National Key Research and Development Program of China(2022YFF1000104-3)。
Sheep(Ovis aries),among the first domesticated species,are now globally widespread and exhibit remarkable adaptability to diverse environments.In this study,we perform whole-genome sequencing of266 animals from 18 dis...
关键词：Whole-genome sequencing Local adaptation PAPSS2 RXFP2 Missense variant 
Abnormal function of EPHA2/p.R957P mutant in congenital cataract
《International Journal of Ophthalmology(English edition)》2024年第6期1007-1017,共11页Jing-Jin Zhang Zong-Fu Cao Bi-Ting Zhou Ju-Hua Yang Zhong Li Shuang Lin Xiao-Le Chen Nan-Wen Zhang Qin Ye Xu Ma Yi-Hua Zhu 
Supported by the Natural Science Foundation of Fujian Province(No.2021J01229);National Key Research and Development Program of China(No.2016YFC1000307).
AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.METHODS:A four-generation Chinese family affected with autosomal dominant congenital cataract ...
关键词：congenital cataract EPHA2 missense variant function analysis 
A novel homozygous missense variant in ARSK causes MPS X,a new subtype of mucopolysaccharidosis
《Genes & Diseases》2024年第3期87-90,共4页Miao Sun Cornelia K.Kaminsky Philip Deppe Mai-Brittllse Frederic M.Vaz Barbara Plecko Torben Lubke Linda M.Randolph 
Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage ...
关键词：metabolism doses polys 
Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome
《World Journal of Gastrointestinal Oncology》2024年第4期1532-1546,共15页Jin Liu Si-Cong Zeng An Wang Hai-Ying Cheng Qian-Jun Zhang Guang-Xiu Lu 
Supported by the Natural Science Foundation of Hunan Province,China,No.2023JJ30422.
BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene mutations.Preimplantation genetic testing can protect a patient’s offsp...
关键词：MISSENSE STK11 Peutz-Jeghers syndrome Rare disease Genetic counseling Assisted reproductive technique 
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family被引量：1
《International Journal of Ophthalmology(English edition)》2024年第3期466-472,共7页Zhi-Bo Lin Chun-Yun Feng Jin Li An-Peng Pan Hai-Sen Sun A-Yong Yu Shi-Hao Chen 
●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa...
关键词：PAX6 gene atypical aniridia missense mutation MUTATION 
Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome
《International Journal of Ophthalmology(English edition)》2023年第5期694-699,共6页Na Miao Yao Zhang Jin-Ying Liao Lin Zhou Ji-Cai He Rong-Qin Yang Xu-Yang Liu Li Tang 
Supported by The Cadre Health Research Program of the Sichuan Province (No.2023-119);Sichuan Science and Technology Program (No.2021YFS0213)。
AIM: To explore the phenotype and genotype of WeillMarchesani syndrome(WMS) in a Chinese family and review related literature.METHODS: Three WMS patients and other unaffected individuals in this family with a history ...
关键词：Weill-Marchesani syndrome ADAMTS17 missense variation molecular genetics 
mvPPT:A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants
《Genomics, Proteomics & Bioinformatics》2023年第2期414-426,共13页Shi-Yuan Tong Ke Fan Zai-Wei Zhou Lin-Yun Liu Shu-Qing Zhang Yinghui Fu Guang-Zhong Wang Ying Zhu Yong-Chun Yu 
supported by the National Key R&D Program of China(Grant No.2021ZD0202500);the Shanghai Natural Science Foundation,China(Grant No.20ZR1403800);the National Natural Science Foundation of China(Grant Nos.31900476,82071259,31930044,and 31725012);the Shanghai Municipal Science and Technology Major Project(Grant No.2018SHZDZX01);ZJ Lab,the Shanghai Center for Brain Science and Brain-Inspired Technology,China,the Foundation of Shanghai Municipal Education Commission,China(Grant No.2019-01-07-00-07-E00062);the Collaborative Innovation Program of Shanghai Municipal Health Commission,China(Grant No.2020CXJQ01).
Next-generation sequencing technologies both boost the discovery of variants in the human genome and exacerbate the challenges of pathogenic variant identification.In this study,we developed Pathogenicity Prediction T...
关键词：Machine learning Missensevariant GENOMICS Computational biology Pathogenicityprediction 
Association between the Missense Variant of PLCE1 and the Risk of Colorectal Cancer被引量：1
《Biomedical and Environmental Sciences》2023年第1期109-111,共3页GAO Xue Ren PAN Jun Jie NIE Wan Jia LI Xian Yang ZHANG Shu Long 
supported by the Opening Project of Jiangsu Province Engineering Research Center of Tumor Targeted Nano Diagnostic and Therapeutic Materials[no.JETNM202201]。
Colorectal cancer(CRC) is a malignancy of the digestive system that poses a serious threat to human life and health. Approximately 1.93 million new CRC cases were identified in 2020, including0.94 million CRC-related ...
关键词：COLORECTAL CANCER CANCER 
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