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作品数：22被引量：42H指数：4
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相关领域：医药卫生更多>>
相关作者：郑静更多>>
相关机构：华东理工大学更多>>
相关期刊：《Journal of Bio-X Research》《Genomics, Proteomics & Bioinformatics》《Current Medical Science》《Neuroscience Bulletin》更多>>
相关基金：国家自然科学基金国家教育部博士点基金国家高技术研究发展计划中国博士后科学基金更多>>
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Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts
《Journal of Genetics and Genomics》2024年第2期222-229,共8页Wenbin Huang Shiying Zhang Jiuxiang Lin Yi Ding Nan Jiang Jieni Zhang Huaxiang Zhao Feng Chen 
supported by the National Natural Science Foundation of China(No.81870747,82170916,81900984,and 82001030);the Fundamental Research Funds for the Central Universities(PKU2022XGK001);Natural Science Foundation of Beijing Municipality(7182184);Xi'an“Science and Technology+”Action Plan-Medical Research Project(20YXYJ0010[1]);the Fundamental Research Funds for the Central Universities(xzy012020110).
Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formatio...
关键词：Or ofacial clefts FLNB Loss-of-function mutati on Cleft palate Filamin B Actin flannent Knockout mouse 
Polydactyly:Clinical and molecular manifestations被引量：4
《World Journal of Orthopedics》2023年第1期13-22,共10页Zisis Kyriazis Panagoula Kollia Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana 
Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited h...
关键词：POLYDACTYLY Gene SYNDROMIC NON-SYNDROMIC Preaxial Postaxial 
Reading-related Brain Function Restored to Normal After Articulation Training in Patients with Cleft Lip and Palate:An fMRI Study被引量：2
《Neuroscience Bulletin》2022年第10期1215-1228,共14页Liwei Sun Wenjing Zhang Mengyue Wang Songjian Wang Zhen Li Cui Zhao Meng Lin Qian Si Xia Li Ying Liang Jing Wei Xu Zhang Renji Chen Chunlin Li 
We are grateful to all the patients and healthy controls for their generous participation in this study.This work was supported by grants from the National Natural Science Foundation of China(81771909,61701323,and 62171300);the Discipline Construction Foundation of Beijing Stomatological Hospital(19-09-24);the Capital Medical University Research and Development Fund(PYZ19081);Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support(XML201714).
Cleft lip and/or palate(CLP)are the most common craniofacial malformations in humans.Speech problems often persist even after cleft repair,such that follow-up articulation training is usually required.However,the neur...
关键词：Non-syndromic cleft lip and palate Articulation training FMRI Functional connectivity Graph-based network analysis 
Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects
《Current Medical Science》2022年第1期129-143,共15页Mehri KHATAMI Sajedeh GHORBANI Mojgan Rezaii ADRIANI Sahar BAHALOO Mehri Azami NAEINI Mohammad Mehdi HEIDARI Mehdi HADADZADEH 
Objective:Transcription factor GATA4 has significant roles in embryonic heart development.Mutations of GATA4 appear to be responsible for a wide variety of congenital heart defects(CHD).Despite the high prevalence of ...
关键词：congenital heart disease GATA4 S'-untranslated region mutation in-silico analysis 
Progression of KCNQ4 related genetic hearing loss:a narrative review
《Journal of Bio-X Research》2021年第4期151-157,共7页Xiaolong Zhang Hongyang Wang Qiuju Wang 
supported by the grants of the National Natural Science Foundation of China(Major Project No.81830028,Youths Program Nos.81900950 and 81900951).
KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A,which is a type of autosomal dominant non-syndromic hearing loss.Deafness non-syndromic autosomal dominant 2A patients with KCNQ4 gene mutat...
关键词：deafness non-syndromic autosomal dominant 2A genetic hearing loss gene mutation KCNQ4 potassium channel 
Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy被引量：1
《International Journal of Dermatology and Venereology》2021年第2期70-75,共6页Bahar Dasgeb Leila Youssefian Amir Hossein Saeidian Jun Kang Wenyin Shi Elizabeth Shoenberg Adam Ertel Paolo Fortina Hassan Vahidnezhad Jouni Uitto 
The study was supported by NIH R01 IA143810;the Department of Dermatology and Cutaneous Biology,Thomas Jefferson University Institutional funds.
Objective:Well-defined germ-line mutations in thePTCH1 gene are associated with syndromic multiple basal cell carcinomas(BCCs).Here,we used whole exome sequencing(WES)to identify the role of patched-1 in patients with...
关键词：immune therapy malignant transformation gene-susceptibility non-syndromic basal cell carcinoma PTCH1 skin neoplasms 
Incidence of congenital heart diseases in Chinese children with non-syndromic congenital blepharoptosis:a prospective observational study of 1053 patients被引量：1
《World Journal of Pediatrics》2020年第4期411-415,共5页Le-Feng Zeng Zheng-De Tang Jun Gu Chang-Qian Wang Hui-Li Zhang 
This work was supported by the National Natural Science Foundation of China grant(Grant no.81570037);the MDT Program of Shanghai Ninth People’s Hospital(Grant no.2017-1-015).
Background Congenital blepharoptosis(CBP)may be part of a large spectrum of birth defects presenting with other ocular or systemic conditions.Therefore,the aim of the study was to investigate the incidence of congenit...
关键词：Congenital blepharoptosis Congenital heart diseases ECHOCARDIOGRAPHY 
Surgical management of non-syndromic ectopia lentis被引量：1
《International Journal of Ophthalmology(English edition)》2020年第7期1156-1160,共5页Kirk AJ Stephenson Michael O’Keefe David J Keegan 
Supported by Health Research Board Ireland;Science Foundation Ireland;Fighting Blindness Ireland;Medical Research Charities Group Ireland。
AIM:To compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a pedigree with an FBN1 mutation causing non-syndro...
关键词：FBN1 isolated ectopia lentis retinal detachment iris-claw intraocular lenses 
New SNP variants of MARVELD2(DFNB49) associated with non-syndromic hearing loss in Chinese population
《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2019年第2期164-169,共6页Jing ZHENG Wen-fang MENG Chao-fan ZHANG Han-qing LIU Juan YAO Hui WANG Ye CHEN Min-xin GUAN 
Project supported by the National Basic Research Priorities Program of China(Nos.2014CB541702 and 2014CB541704);the National Natural Science Foundation of China(Nos.8147068 5?yand 81600817);the Zhejiang Provincial Public Welfare Technology Applied Research Project(No.2016C33148),China
Non-syndromic hearing loss(NSHL)is a common defect in humans.Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral,moderate to profound NSHL.However,the role of MARVELD2 in NSHL susceptibility in...
关键词：MARVELD2 Non-syndromic hearing loss(NSHL) non-syndromic hearing 
Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft被引量：3
《Genomics, Proteomics & Bioinformatics》2018年第5期354-364,共11页Shi-Jian Zhang Peiqi Meng Jieni Zhang Peizeng Jia Jiuxiang Lin Xiangfeng Wang Feng Chen Xiaoxing Wei 
supported by the open project of Beijing Advanced Innovation Center for Food Nutrition and Human Health,China;the National Natural Science Foundation of China(Grant No.81860370);Beijing Municipal Natural Science Foundation(Grant No.7182184);interdisciplinary medicine Seed Fund of Peking University(Grant No.BMU2017MB006),China;supported by the National Postdoctoral Program for Innovative Talents(Grant No.BX201600150),China
The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate(NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P...
关键词：Orofacial cleft Genetic risk Folic acid Vitamin A Nutritional intervention 
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