2025

人工智能解读基因测序结果

马端

《中国产前诊断杂志(电子版)》

DOI

2025

Chinese Medical Journal

DOI

2016

凝血因子Ⅶ和Ⅺ异常的研究进展

杨纪春，马端

《中国产前诊断杂志(电子版)》

2016

Zhao-Ru Ju, Hui-jun Wang, Xiao-jing Ma, Duan Ma, Guo-Ying Huang

2016

The alternatively-included 11a sequence modifies the effects of Mena on actin cytoskeletal organization and cell behavior

M. Balsamo, C. Mondal, G. Carmona, Leslie M. McClain, Daisy N. Riquelme, Jenny Tadros, Duan Ma, E. Vasile, J. Condeelis, D. Lauffenburger, F. Gertler

Scientific Reports

DOI

2016

Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome

Shao-juan Hao, Lei Jin, Hui-jun Wang, Chen-Long Li, Feng-Yun Zheng, Duan Ma, Tian-Yu Zhang

The Journal of craniofacial surgery (Print)

DOI

2015

顾盼盼，罗欣，张宏伟，谭理，陈浩，孔令春，刁建波，石雨江，马端

《中国临床医学》

2015

Fei Xu, Jin Zhang, Duan Ma

DOI

2014

Mammalian sterile 20-like kinase 1/2 inhibits the Wnt/β-catenin signalling pathway by directly binding casein kinase 1ε.

Fei Xu, Yan-Lin Wang, Jiao-Jiao Chang, Si-chen Du, Lei Diao, Nan Jiang, Hui-jun Wang, Duan Ma, Jin Zhang

Biochemical Journal

DOI

2014

单基因遗传病检出策略

马端

《诊断学理论与实践》

2014

新生儿2q37缺失伴4q部分三体全基因组拷贝数变异(CNVs)分析

胡萍，杨琳，詹国栋，马端，黄国英，周文浩

《复旦学报(医学版)》

2014

International Journal of Molecular Medicine

DOI

2014

[Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].

Mei Mei, Lin Yang, Guodong Zhan, Huijun Wang, Duan Ma, Wenhao Zhou, Guoying Huang

PubMed

2014

Jun Xu, Yi-Xiang Lin, Ruo-yi Gu, Hui-jun Wang, Xiao-jing Ma, Duan Ma, Guo-Ying Huang

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

2013

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

Yanlin Wang, Yan Chen, Feng Tian, Jianguang Zhang, Zhuo Song, Yi Wu, Xu Han, Wenjing Hu, Duan Ma, David Stephen Cram, Weiwei Cheng

Clinical Chemistry

DOI

2013

Two cases of placental T21 mosaicism: challenging the detection limits of non‐invasive prenatal testing

Yanlin Wang, Jiansheng Zhu, Yan Chen, Shoulian Lu, Biliang Chen, Xinrong Zhao, Yi Wu, Xu Han, Duan Ma, Zhongyin Liu, David Stephen Cram, Weiwei Cheng

Jun-Jie Pan, Hai-Ming Shi, Xin-Ping Luo, Duan Ma, W. Liang, Jin Zhang, Jun Zhu, Jian Li

Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi

2011

Correction: The Induction of MicroRNA Targeting IRS-1 Is Involved in the Development of Insulin Resistance under Conditions of Mitochondrial Dysfunction in Hepatocytes

H. Ryu, Seung-Yoon Park, Duan Ma, Jin Zhang, Wan Lee

PLoS ONE

DOI

2011

The Induction of MicroRNA Targeting IRS-1 Is Involved in the Development of Insulin Resistance under Conditions of Mitochondrial Dysfunction in Hepatocytes

H. Ryu, Seung-Yoon Park, Duan Ma, Jin Zhang, Wan Lee

PLoS ONE

DOI

2011

Hypomethylated DSCR4 is a placenta‐derived epigenetic marker for trisomy 21

Yingying Du, Jin Zhang, Hui-jun Wang, Xiaoling Yan, Ying-Jun Yang, Lu Yang, Xin Luo, Ya-ting Chen, T. Duan, Duan Ma

Prenatal Diagnosis

DOI

2011

Cong Wang, Yi-Hong Sun, Xue-Fei Wang, Duan Ma, Xi Li, Qi-Qun Tang, Xinyu Qin

黄成磊，罗心平，李剑，梁旺，林伊凤，金波，沈伟，施海明，马端

《中国病理生理杂志》

2008

[Effect of tissue factor pathway inhibitor on apoptosis of rat mesangial cells and Fas and bcl-2 expression].

Yi-Feng Lin, Duan Ma, W. Liang, Tao Jiang, Zhong-Hua Zhao, Nong Zhang

Zhonghua bing li xue za zhi = Chinese journal of pathology

DOI

2008

Dynamic changes of tissue factor pathway inhibitor type 2 associated with IL-1beta and TNF-alpha in the development of murine acute lung injury.

Zheng-Wu Li, Zuo-Hua Mao, Yifeng Lin, W. Liang, Fanglin Jiang, Jin Liu, Qi-Qun Tang, Duan Ma

Thrombosis Research

DOI

2008

The cell growth suppressor, mir-126, targets IRS-1.

Jin Zhang, Yingying Du, Yi-feng Lin, Ya-ting Chen, Lu Yang, Hui-jun Wang, Duan Ma

Biochemical and Biophysical Research Communications - BBRC

DOI

2008

东方科技论坛“重大出生缺陷研究面临的问题及对策”研讨会纪要

马端，郑枫芸

《中国产前诊断杂志(电子版)》

2008

Ying Zhu, Xin-Ping Luo, Duan Ma

2007

Tissue factor pathway inhibitor-2 was repressed by CpG hypermethylation through inhibition of KLF6 binding in highly invasive breast cancer cells

Hong-shen Guo, Yifeng Lin, Hongwei Zhang, Juan Liu, Nong Zhang, Yi-Ming Li, De-sheng Kong, Qiqun Tang, Duan Ma

BMC Molecular Biology

DOI

2006

De-sheng Kong, Hong-shen Guo, X. Cai, W. Liang, Zhuo-chun Peng, Hou-Yan Song, Duan Ma

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi

2006

Preparation of anti-recombinant soluble tissue factor monoclonal antibody by trace injecting antigen into spleen

Cai Xu, Zuo Chun Peng, De Sheng Kong, Hong Shen Guo, Hao Bai, Hou Yan Song, Duan Ma

Fudan xuebao. Yixue ban

2006

Exogenous Tissue Plasminogen Activator Enhances Peripheral Nerve Regeneration and Functional Recovery After Injury In Mice

Tie Zou, Changchun Ling, Yao Xiao, Xianmei Tao, Duan Ma, Zu-Lin Chen, S. Strickland, Hou-Yan Song

Journal of Neuropathology and Experimental Neurology

DOI

2005

Molecular design and characterization of recombinant long half-life mutants of human tissue factor pathway inhibitor

H. Bai, Duan Ma, Yu-Gao Zhang, Nong Zhang, De-sheng Kong, Hong-shen Guo, W. Mo, Qi-Qun Tang, Hou-Yan Song

Thrombosis and Haemostasis

DOI

2004

The effect of human tissue factor pathway inhibitor-2 on the growth and metastasis of fibrosarcoma tumors in athymic mice.

H. Chand, Xin Du, Duan Ma, H. Inzunza, S. Kamei, D. Foster, S. Brodie, W. Kisiel

Blood

DOI

2004

Effects of transplanting bone marrow cells on cardiomyocyte apoptosis and expressions of bcl-2 and bax in post-infarction rats

Duan Ma, J. Mao, Yan Zhang, D. Xie, R. Zhao, P. Zhang, C. Zhou

DOI

2004

Expression and characterization of the first kunitz domain of human tissue factor pathway inhibitor-2.

De-sheng Kong, Duan Ma, H. Bai, Hong-shen Guo, X. Cai, W. Mo, Qi-Qun Tang, Hou-Yan Song

Biochemical and Biophysical Research Communications - BBRC

DOI

2003

A new model of coronary microthrombosis in rats and the protective effect of a new thrombin inhibitor

Cheng Shen, Jun-Bo Ge, Liang-Long Chen, Qing-Yong Zhang, Yu-Kun Luo, Chun Liang, Shuang-Jie Li, Hao-zhu Chen, Hou-Yan Song, W-B Mo, Duan Ma

DOI

2003

新型抗溃疡及促进伤口愈合药——重组人角质细胞生长因子-2

陈琦，马端

《中国新药杂志》

2002

Recombinant staphylokinase:comparison of administration route in a pig model of thromboembolic stroke

Zhi-Yong Qin, Xiancheng Chen, Duan Ma, Hui Gao, Ru-Cun Ge, Hou-Yan Song

1996

[Factors affecting prognosis of papillary thyroid carcinoma with bilateral cervical lymph node metastases].

Q. Ji, Duan Ma, A. Tian

Zhonghua zhong liu za zhi [Chinese journal of oncology]

精选作品

期刊论文

FOXI3 establishes the ectodermal niche in pharyngeal arches for cranial neural crest cells and their lineages

From initial complete response to recurrence: ENPP1 mutation drives cisplatin resistance through STING/NF-κB/IL-6 axis in hypopharyngeal squamous cell carcinoma.

Mandibular extracellular vesicles mediate morphogenesis and mineralization of tooth germs in miniature swine through the miR-206/HDAC4 signaling axis

A GM-CSF-Flt3L Fused Adjuvant Enhances Immune Responses and Protective Efficacy of Influenza DNA Vaccine in Mice

提升罕见遗传疾病病因阳性检出率的思考及应用

人工智能解读基因测序结果

先天口面裂的分级分类诊疗专家共识

FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis

Targeting Neutrophil/Eosinophil Extracellular Traps by Aptamer‐Functionalized Nanosheets to Overcome Recalcitrant Inflammatory Disorders

Mechanism of nimodipine in treating neurodegenerative diseases: in silico target identification and molecular dynamic simulation

Expert consensus on classification and diagnosis of congenital orofacial cleft.

Individualized Gene Editing: A Leap Forward in Treating Rare Genetic Disorders

A novel mouse model of chronic neuronopathic Gaucher disease exhibits Parkinson's disease-like phenotypes

The Role of Dectin-1-Akt-RNF146 Pathway in β-Glucan Induced Immune Trained State of Monocyte in Sepsis

基因意义不明变异的应对策略

Modulation of Unregulated Inflammation‐Associated Coagulopathy in Sepsis Using Multifunctional Nanosheets

Innovative Bio‐based Hydrogel Microspheres Micro‐Cage for Neutrophil Extracellular Traps Scavenging in Diabetic Wound Healing

HOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia

N6-methyladenosine dynamics in placental development and trophoblast functions, and its potential role in placental diseases

Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria

FMRP protects breast cancer cells from ferroptosis by promoting SLC7A11 alternative splicing through interacting with hnRNPM

Upregulation of NFE2L1 reduces ROS levels and α-synuclein aggregation caused by GBA1 knockdown

A hidden proteome encoded by circRNAs in human placentas: Implications for uncovering preeclampsia pathogenesis

A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome

Pathogenic Somatic Mutation of DICER1 and Clinicopathological Features in Nasal Chondromesenchymal Hamartomas

SMC3 contributes to heart development by regulating super-enhancer associated genes

常染色体显性遗传多囊肾病的研究进展

TMEM135 maintains the equilibrium of osteogenesis and adipogenesis by regulating mitochondrial dynamics.

The circular RNA expression profile of human auricle cartilage and the role of circCOL1A2 in isolated microtia.

Fasting-Mimicking Diet Drives Antitumor Immunity against Colorectal Cancer by Reducing IgA-Producing Cells

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

DNA methylation profile of lip tissue from congenital nonsyndromic cleft lip and palate patients by whole‐genome bisulfite sequencing

miR-210-3p protects against osteoarthritis through inhibiting subchondral angiogenesis by targeting the expression of TGFBR1 and ID4

PARD3 gene variation as candidate cause of nonsyndromic cleft palate only

Key Genes Identified in Nonsyndromic Microtia by the Analysis of Transcriptomics and Proteomics

Single‐cell transcriptomics reveals pathogenic dysregulation of previously unrecognised chondral stem/progenitor cells in children with microtia

STARD3NL inhibits the osteogenic differentiation by inactivating the Wnt/β‐catenin pathway via binding to Annexin A2 in osteoporosis

WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation

Downregulation of MEG3 and upregulation of EZH2 cooperatively promote neuroblastoma progression

Expression Profiles of Exosomal MicroRNAs Derived from Cerebrospinal Fluid in Patients with Congenital Hydrocephalus Determined by MicroRNA Sequencing

A novel adiponectin receptor agonist (AdipoAI) ameliorates type 2 diabetes‐associated periodontitis by enhancing autophagy in osteoclasts.

Trophoblast Exosomal UCA1 Induces Endothelial Injury through the PFN1‐RhoA/ROCK Pathway in Preeclampsia: A Human‐Specific Adaptive Pathogenic Mechanism

Linc01105 acts as an oncogene in the development of neuroblastoma

Transcriptional Networks Identify BRPF1 as a Potential Drug Target Based on Inflammatory Signature in Primary Lower-Grade Gliomas

Ablation of Zfhx4 results in early postnatal lethality by disrupting the respiratory center in mice

ARID1B/SUB1‐activated lncRNA HOXA‐AS2 drives the malignant behaviour of hepatoblastoma through regulation of HOXA3

SP1-Mediated Upregulation of Long Noncoding RNA ZFAS1 Involved in Non-syndromic Cleft Lip and Palate via Inactivating WNT/β-Catenin Signaling Pathway

USP7 promotes hepatoblastoma progression through activation of PI3K/AKT signaling pathway

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus

Identification of a Potential PPAR-Related Multigene Signature Predicting Prognosis of Patients with Hepatocellular Carcinoma

Genetic Architecture of Childhood Kidney and Urological Diseases in China

Diagnostic and clinical utility of genetic testing in children with kidney failure

Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort

Responsible genes in children with primary vesicoureteral reflux: findings from the Chinese Children Genetic Kidney Disease Database

m6A Modification: A Double-Edged Sword in Tumor Development

Genome‑wide methylation analysis reveals differentially methylated CpG sites and altered expression of heart development‑associated genes in fetuses with cardiac defects

Advances in the Genetics of Congenital Ptosis

Recent advances in the epigenetics of bone metabolism

Identification of an autophagy-related gene signature predicting overall survival for hepatocellular carcinoma

Hypermethylation‐mediated down‐regulation of lncRNA TBX5‐AS1:2 in Tetralogy of Fallot inhibits cell proliferation by reducing TBX5 expression

Morphine promotes tumorigenesis and cetuximab resistance via EGFR signaling activation in human colorectal cancer

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing].

Twenty Metabolic Genes Based Signature Predicts Survival of Glioma Patients

Determination of long non-coding RNAs associated with EZH2 in neuroblastoma by RIP-seq, RNA-seq and ChIP-seq

RETRACTED ARTICLE: Fasting inhibits aerobic glycolysis and proliferation in colorectal cancer via the Fdft1-mediated AKT/mTOR/HIF1α pathway suppression

S119N Mutation of the E3 Ubiquitin Ligase SPOP Suppresses SLC7A1 Degradation to Regulate Hepatoblastoma Progression

The Clinical Relevance and Function of Krüppel-Like Factor 16 in Breast Cancer

Downregulation of MEG3 promotes neuroblastoma development through FOXO1-mediated autophagy and mTOR-mediated epithelial-mesenchymal transition

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling].

Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation by targeting HAND2

SLC34A2 simultaneously promotes papillary thyroid carcinoma growth and invasion through distinct mechanisms

Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort.

AMOTL2 inhibits JUN Thr239 dephosphorylation by binding PPP2R2A to suppress the proliferation in non-small cell lung cancer cells.

MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

The Inhibition of Protein Kinase C β Contributes to the Pathogenesis of Preeclampsia by Activating Autophagy

DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome

Novel TRRAP mutation causes autosomal dominant non‐syndromic hearing loss