2023年主要研究成果与贡献

2024-09-04  点击:[]

儿科罕见病教育部重点实验室在2023年发挥实验室各PIs的学科与研究优势,围绕实验室四个研究方向开展深入、系统性的科研工作,并取得了丰硕的科研成果。

1

Research article

DrosophilaAmus and Bin3 methylases functionally replace mammalian MePCE for capping and the stabilization of U6 and 7SK snRNAs

SCIENCE ADVANCES

Qiu Peng, Yiqing Wang, Ying Xiao, Hua Chang, Shishi Luo, Danling Wang, Yikang S. Rong

2

Research article

Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways

Nature Communications

Wendiao Zhang, Ming Zhang, Zhenhong Xu, Hongye Yan, Huimin Wang, Jiamei Jiang, Juan Wan, Beisha Tang, Chunyu Liu*, Chao Chen*, Qingtuan Meng*

3

Research article

SARS-CoV-2 spike-specific TFH cells exhibit unique responses in infected and vaccinated individuals

Signal Transduction and Targeted Therapy

He R, Zheng X, Zhang J, Liu B, Wang Q, Wu Q, Liu Z, Chang F, Hu Y, Xie T, Liu Y, Chen J, Yang J, Teng S, Lu R, Pan D, Wang Y, Peng L, Huang W, Terzieva V, Liu W, Wang Y, Li YP, Qu X.

4

Research article

Identification and verification of PTPN3 as a novel biomarker in predicting cancer prognosis, immunity, and immunotherapeutic efficacy

European Journal of Medical Research

Zhou Z, Lin Z, Wang M, Wang L, Ji Y, Yang J, Yang Y, Zhu G, Liu T.

5

Research article

A genome-wide CRISPR screen identifies USP1 as a novel regulator of the mammalian circadian clock

The FEBS journal

Ying Hu, Xin Li, Jing Zhang, Dengfeng Liu, Renbin Lu,, Jia-Da Li

6

Research article

A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application

Clin Exp Otorhinolaryngol

Anhai Chen , Jie Ling , Xin Peng , Xianlin Liu , Shuang Mao , Yongjia Chen , Mengyao Qin , Shuai Zhang, Yijiang Bai , Jian Song , Zhili Feng , Lu Ma , Dinghua He , Lingyun Mei, Chufeng He ,Yong Feng

7

Research article

CCDC66 mutations are associated with high myopia through affected cell mitosis

Journal of medical genetics

Xiaozhen Chen , Ping Tong, Ying Jiang, Zhe Cheng , Liyu Zang , Zhikuan Yang, Weizhong Lan , Kun Xia, Zhengmao Hu, Qi Tian

8

Research article

KnockTF 2.0: a comprehensive gene expression profile database with knockdown/knockout of transcription (co-)factors in multiple species

Nucleic Acids Res

Chenchen Feng , Chao Song , Shuang Song , Guorui Zhang , Mingxue Yin , Yuexin Zhang , Fengcui Qian, Qiuyu Wang Maozu Guo, Chunquan Li

9

Research article

scGRN: a comprehensive single-cell gene regulatory network platform of human and mouse

Nucleic Acids Res

Xuemei Huang , Chao Song , Guorui Zhang, Ye Li , Yu Zhao , Qinyi Zhang , Yuexin Zhang , Shifan Fan , Jun Zhao 1 , Liyuan Xie , Chunquan Li

10

Research article

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder

Cell Rep

Hanzhe Kuang , Yunlong Li , Yixuan Wang , Meizhen Shi , Ranhui Duan , Qiao Xiao , Haoyuan She , Yingdi Liu , Qiaowei Liang , Yanling Teng , Miaojin Zhou , Desheng Liang , Zhuo Li , Lingqian Wu

11

Research article

Heparin-induced thrombocytopenia associated with low-molecular-weight heparin: clinical feature analysis of cases and pharmacovigilance assessment of the FAERS database

Front Pharmacol

Leping Liu , Hong Zheng , Shanshan Chen , Shengfeng Wang , Minghua Yang

12

Research article

scATAC-Ref: a reference of scATAC-seq with known cell labels in multiple species

Nucleic Acids Res

Feng-Cui Qian, Li-Wei Zhou , Yan-Bing Zhu , Yan-Yu Li, Zheng-Min Yu , Chen-Chen Feng , Qiao-Li Fang , Yu Zhao , Fu-Hong Cai , Qiu-Yu Wang , Hui-Fang Tang , Chun-Quan Li

13

Research article

A comprehensive database for decoding the regulatory eRNAs in human and mouse

Nucleic Acids Res

Chao Song , Guorui Zhang , Xinxin Mu , Chenchen Feng , Qinyi Zhang , Shuang Song , Yuexin Zhang , Mingxue Yin , Hang Zhang , Huifang Tang , Chunquan Li

14

Research article

Trisulfide Bond-Mediated Molecular Phototheranostic Platform for "Activatable" NIR-II Imaging-Guided Enhanced Gas/Chemo-Hypothermal Photothermal Therapy

Adv Sci (Weinh)

Gui-Long Wu , Fen Liu , Na Li , Qian Fu , Cheng-Kun Wang, Sha Yang , Hao Xiao、 , Li Tang , Feirong Wang , Wei Zhou , Wenjie Wang , Qiang Kang , Zelong Li , Nanyun Lin, Yinyin Wu 1 , Guodong Chen 3 , Xiaofeng Tan , Qinglai Yang

15

Research article

Tumor Microenvironment-Responsive One-for-All Molecular-Engineered Nanoplatform Enables NIR-II Fluorescence Imaging-Guided Combinational Cancer Therapy

Anal Chem

Gui-Long Wu , Fen Liu , Na Li , Feirong Wang , Sha Yang , Fan Wu , Hao Xiao , Minghui Wang , Sanling Deng , Xin Kuang , Qian Fu , Peixian Wu , Qiang Kang , Lijuan Sun , Zelong Li , Nanyun Lin , Yinyin Wu , Senyou Tan , Guodong Chen, Xiaofeng Tan , Qinglai Yang

16

Research article

Recent Advances on NIR-II Light-Enhanced Chemodynamic Therapy

Adv Healthc Mater

Gui-Long Wu , Xiaofeng Tan , Qinglai Yang

17

Research article

LncSEA 2.0: an updated platform for long non-coding RNA related sets and enrichment analysis

Nucleic Acids Res

Guorui Zhang , Chao Song , Shifan Fan , Mingxue Yin , Xinyue Wang , Yuexin Zhang , Xuemei Huang, Ye Li , Desi Shang , Chunquan Li , Qiuyu Wang

18

Research article

NPAS2 dampens chemo-sensitivity of lung adenocarcinoma cells by enhancing DNA damage repair

Cell Death Dis

Youyu Zhang , Yuqiao Chen , Wentao Huang , Yuan Zhou , Ya Wang , Kai Fu , Wei Zhuang

19

Research article

Unidirectional alteration of methylation and hydroxymethylation at the promoters and differential gene expression in oral squamous cell carcinoma

ront Genet

Weizhi Zhao , Lin Zhu , Qian Gong , Suzhen Ma, Haofeng Xiong , Tong Su, Zhengqing Wan, Danling Wang

20

Research article

TREG cells and CXCR3+ circulating TFH cells concordantly shape the neutralizing antibody responses in individuals who have recovered from mild COVID-19

J Infect Dis

Xingyu Zheng , Rui Lu , Dong Pan, Liting Peng, Rongzhang He , Yabin Hu, Jun Chen , Jinyong Tang , Xiaohan Rong , Shishan Teng , You Wang Fen Liu , Tianyi Xie , Chanfeng Wu , Yinggen Tang , Wenpei Liu , Xiaowang Qu

21

Research article

Regioselective heterofunctionalization of alpha-aryl amides with heteroatom nucleophiles via electrophilic activation

.Organic Chemistry Frontiers

Shuai Han,Yu Guo, Wei Zhang,Jinjin Chen, Zhen Wang , Yao-Fu Zeng

22

Research article

Photoredox-catalyzed unsymmetrical diamination of alkenes for access to vicinal diamines

Chem Commun (Camb)

Jie Liu , Lu Guo , Zhang Chen, Yu Guo , Wei Zhang, Xue Peng , Zhen Wang , Yao-Fu Zeng

23

Research article

Recent Progress on Tumor Microenvironment-Activated NIR-II Phototheranostic Agents with Simultaneous Activation for Diagnosis and Treatment

em Asian J

Hao Xiao , Gui-Long Wu , Senyou Tan, Xiaofeng Tan , Qinglai Yang

24

Research article

PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/beta-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids

Biochem Biophys Res Commun

SiJun Li , Chufeng He , Lingyun Mei , Xuewen Wu , Yong Feng , Jian Song

25

Research article

Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

Hum Cell

SiJun Li , Lingyun Mei , Chufeng He , Xinzhang Cai , Hong Wu XueWen Wu , Yalan Liu , Yong Feng, Jian Song

26

Research article

MLKL deficiency alleviates neuroinflammation and motor deficits in the α-synuclein transgenic mouse model of Parkinson’s disease

Molecular Neurodegeneration

Lu Geng # 1, Wenqing Gao # 1, Hexige Saiyin 2, Yuanyuan Li 1, Yu Zeng 3, Zhifei Zhang 1, Xue Li 3, Zuolong Liu 1, Qiang Gao 1, Ping An 2, Ning Jiang 2, Xiaofei Yu 2, Xiangjun Chen 4, Suhua Li 5, Lei Chen 3, Boxun Lu 2, Aiqun Li 6, Guoyuan Chen 7, Yidong Shen 7, Haibing Zhang 8, Mei Tian 9, Zhuohua Zhang 10 11, Jixi Li 12

27

COVER ARTICLE

Biomarkers of aging

SCIENCE CHINA Life Sciences

Jiani Cao, Mengting Chen, Min Chen, Wei Chen, Xiao Chen, Yanhao Chen, Yu Chen, Yutian Chen, Zhiyang Chen, Jagadish K Chhetri Yingjie Ding, Junlin Feng, Jun Guo, Mengmeng Guo, Chuting He, Yujuan Jia, Haiping Jiang, Ying Jing, Dingfeng Li, Jiaming Li, Jingyi Li, Qinhao Lian, Rui Liang, Feng Liu, Xiaoqian Liu, Zuojun Liu, Oscar Junhong Luo, Jianwei Lv, Jingyi Ma, Kehang Mao, Jiawei Nie, Xinhua Qiao, Xinpei Sun, Xiaoqiang Tang, Jianfang Wang, Qiaoran Wang , Siyuan Wang, Xuan Wang, Yaning Wang, Yuhan Wang, Rimo Wu, Kai Xia, Fu-Hui Xiao, Lingyan Xu, Yingying Xu, Haoteng Yan, Liang Yang, Ruici Yang, Yuanxin Yang, Yilin Ying, Le Zhang, Weiwei Zhang, Wenwan Zhang, Xing Zhang, Zhuo Zhang, Min Zhou, Rui Zhou, Qingchen Zhu, Zhengmao Zhu, Feng Cao, Zhongwei Cao, Piu Chan, Chang Chen, Guobing Chen, Hou-Zao Chen, Jun Chen , Weimin Ci, Bi-Sen Ding, Qiurong Ding, Feng Gao, Jing-Dong J Han, Kai Huang, Zhenyu Ju, Qing-Peng Kong, Ji Li, Jian Li Xin Li, Baohua Liu Feng Liu, Lin Liu, Qiang Liu, Qiang Liu, Xingguo Liu, Yong Liu, Xianghang Luo Shuai Ma, Xinran Ma, Zhiyong Mao, Jing Nie Yaojin Peng, Jing Qu, Jie Ren, Ruibao Ren, Moshi Song Zhou Songyang, Yi Eve Sun, Yu Sun, Mei Tian, Shusen Wang, Si Wang, Xia Wang, Xiaoning Wang, Yan-Jiang Wang, Yunfang Wang 142, Catherine C L Wong 143, Andy Peng Xiang 144 145, Yichuan Xiao 146, Zhengwei Xie, Daichao Xu, Jing Ye, Rui Yue, Cuntai Zhang , Hongbo Zhang 155 156, Liang Zhang 157 158, Weiqi Zhang 159 160 161, Yong Zhang, Yun-Wu Zhang, Zhuohua Zhang, Tongbiao Zhao, Yuzheng Zhao, Dahai Zhu, Weiguo Zou, Gang Pei, Guang-Hui Liu

28

review

Recent Advances in and Application of Fluorescent Microspheres for Multiple Nucleic Acid Detection

Biosensors

Zhu Chen; Gaoming Luo; Jie Ren; Qixuan Wang; Xinping Zhao; Linyu Wei; Yue Wang; Yuan Liu; Yan Deng and Song Li

29

Research article

Norepinephrine-induced hydrophilic Pd aerogels with photothermal-boosted multienzyme-like activity for chemodynamic therapy of MRSA infections

Chemical Engineering Journal

Minghui Wang , Na Li a, Nanyun Lin , Yingying Wu , Wei Zhou a

, Ximei Sun ,Peixian Wu ,Qian Fu , Wenjie Wang , Zheng Liu , Shuiyuan He , Mengyu Zhou , Dan Song , Jie Chen , Qinglai Yang , Xiaofeng Tan

30

Research article

Evaluating performance and applications of sample-wise cell deconvolution methods on human brain transcriptomic data

Science Advances

Rujia Dai, Tianyao Chu, Ming Zhang, Xuan Wang, Alexandre Jourdon, Feinan Wu, Jessica Mariani, Flora M. Vaccarino, Donghoon Lee, John F. Fullard, Gabriel E. Hoffman, Panos Roussos, Yue Wang, Xusheng Wang, Dalila Pinto, Sidney H. Wang, Chunling Zhang, PsychENCODE consortium, Chao Chen, Chunyu Liu

31

Research article

Transcriptomic sex differences in postmortem brain samples from patients with psychiatric disorders

Science Translational Medicine

Yan Xia, Cuihua Xia, Yi Jiang, Yu Chen, Jiaqi Zhou, Rujia Dai, Cong Han, Zhongzheng Mao, PsychENCODE Consortium, Chunyu Liu, Chao Chen

32

review

Recent Progress on Tumor Microenvironment-Activated NIR-II Phototheranostic Agents with Simultaneous Activation for Diagnosis and Treatment

Chemistry – An Asian Journal

Xiao H, Wu GL, Tan S, Tan X, Yang Q.

33

RESEARCH ARTICLE

NAD activates olfactory receptor 1386 to regulate type I interferon responses in Plasmodium yoelii YM infection

Proc Natl Acad Sci U S A

Peng, Y. C., Wu, J., He, X., Dai, J., Xia, L.

34

review

Recent Advances in and Application of Fluorescent Microspheres for Multiple Nucleic Acid Detection

Biosensors

Zhu Chen; Gaoming Luo; Jie Ren; Qixuan Wang; Xinping Zhao; Linyu Wei; Yue Wang; Yuan Liu; Yan Deng and Song Li

35

Research article

Tight junction component Occludin binds to FIP5 to regulate endosome trafficking and mitotic spindle function.

Advanced Science

Zhang, Z., Ma, R., Chen, J., Lu, Y., Zhou, J., Xia, K., Lu, P.

36

Research article

Targeting cancer heterogeneity by breaking a stem cell and epithelial niche interaction loop.

Advanced Science

Ma, R. #, Feng, D. #, Chen, J. #, Zhou, J., Xia, K., Kong, X., Hu, G., Lu, P.

37

Research article

Sprouty genes regulate subgroup expansion of activated fibroblasts in mammary epithelial development and breast cancer

Cell Death and Disease

Li, J., Ma, R. #, Wang, X., Lu, Y., Chen, J., Feng, D., Zhou, J., Xia, K, Klein, O., Xie., H, Lu, P

38

Research article

KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13

PNAS

Jianbo Cheng#, Zhen Wang#, Manpei Tang#, Wen Zhang#, Guozhong Li#, Senwei Tan, Chenjun Mu, Mengyuan Hu, Dan Zhang, Xiangbin Jia, Guozhong Li, Yangxuan Wen, Hui Guo, Dan Xu, Liang Liu, Jiada Li, Kun Xia, Faxiang Li, Ranhui Duan, Zhiheng Xu*, Ling Yuan*

39

Research article

Evaluating performance and applications of sample-wise cell deconvolution methods on human brain transcriptomic data

Science Advances

Rujia Dai, Tianyao Chu, Ming Zhang, Xuan Wang, Alexandre Jourdon, Feinan Wu, Jessica Mariani, Flora M. Vaccarino, Donghoon Lee, John F. Fullard, Gabriel E. Hoffman, Panos Roussos, Yue Wang, Xusheng Wang, Dalila Pinto, Sidney H. Wang, Chunling Zhang, PsychENCODE consortium, Chao Chen, Chunyu Liu

40

Research article

Transcriptomic sex differences in postmortem brain samples from patients with psychiatric disorders

Science Translational Medicine

Yan Xia, Cuihua Xia, Yi Jiang, Yu Chen, Jiaqi Zhou, Rujia Dai, Cong Han, Zhongzheng Mao, PsychENCODE Consortium, Chunyu Liu, Chao Chen

41

Research article

CELF2 Deficiency Demonstrates Autism‑Like Behaviors and Interferes with Late Development of Cortical Neurons in Mice

Mol Neurobiol

Xinyu Duan , Xiaoxia Peng, Xiangbin Jia , Senwei Tan, Hui Guo , Jieqiong Tan , Zhangxue Hu

42

Research article

Sensitive and visual detection of SARS-CoV-2 using RPA-Cas12a one-step assay with ssDNA-modified crRNA

Analytica chimica acta

Zeng, Qinlong; Zhou, Miaojin; Deng, Weiheng; Gao, Qian; Li, Zhuo; Wu, Lingqian; Liang, Desheng

43

Research article

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Pain

Li, Shuang; Ren, Xiuzhi; Guan, Yun; Zhao, Feiyue; Cao, Yixuan; Geng, Xingzhu; Wang, Yanzhou; Wu, Nan; Wu, Lingqian; Zhao, Xiuli

44

Research article

iPSC-derived NK cells with site-specific integration of CAR19 and IL24 at the multi-copy rDNA locus enhanced antitumor activity and proliferation

MEDCOMM

Zhang, Yuxuan; Shi, Qingxin; Wang, Peiyun; Huang, Chujun; Tang, Shuqing; Zhou, Miaojin; Hu, Qian; Wu, Lingqian; Liang, Desheng

45

Research article

Identification of the Efficient Enhancer Elements in FVIII-Padua for Gene Therapy Study of Hemophilia A

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Xiao, Rou; Chen, Yan; Hu, Zhiqing; Tang, Qiyu; Wang, Peiyun; Zhou, Miaojin; Wu, Lingqian; Liang, Desheng

46

Research article

Motor patterns of patients with spinal muscular atrophy suggestive of sensory and corticospinal contributions to the development of locomotor muscle synergies

JOURNAL OF NEUROPHYSIOLOGY

Cheung, Vincent C. K.; Ha, Sophia C. W.; Zhang-Lea, Janet H.; Chan, Zoe Y. S.; Teng, Yanling; Yeung, Geshi; Wu, Lingqian; Liang, Desheng; Cheung, Roy T. H.

47

Research article

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families

ORAL DISEASES

Xing, Qin; Zhou, Qimin; Li, Hongyan; Wang, Zhongjie; Li, Shun; Wu, Jiayu; Zhu, Huimin; Liang, Desheng; Li, Zhuo; Wu, Lingqian

48

Research article

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder

CELL REPORTS

Kuang, Hanzhe; Li, Yunlong; Wang, Yixuan; Shi, Meizhen; Duan, Ranhui; Xiao, Qiao; She, Haoyuan; Liu, Yingdi; Liang, Qiaowei; Teng, Yanling; Zhou, Miaojin; Liang, Desheng; Li, Zhuo; Wu, Lingqian

49

Research article

KaryoNet: Chromosome Recognition With End-to-End Combinatorial Optimization Network

IEEE TRANSACTIONS ON MEDICAL IMAGING

Xia, Chao; Wang, Jiyue; Qin, Yulei; Wen, Juan; Liu, Zhaojiang; Song, Ning; Wu, Lingqian; Chen, Bing; Gu, Yun; Yang, Jie

50

Research article

Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses

AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM

Pan, Lijuan; Wu, Jiayu; Liang, Desheng; Yuan, Jing; Wang, Jue; Shen, Yinchen; Lu, Junjie; Xia, Aihua; Li, Jinchen; Wu, Lingqian

51

case report

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature

FRONTIERS IN PEDIATRICS

Zhang, Hongyun; Linpeng, Siyuan; Teng, Yanling; Peng, Can; Liang, Desheng; Li, Zhuo; Wu, Lingqian

52

Research article

A protospacer adjacent motif-free, multiplexed, and quantitative nucleic acid detection platform with barcode-based Cas12a activity

MEDCOMM

Zhou, Miaojin; Zhang, Chunhua; Chen, Miaomiao; Hu, Zhiqing; Li, Menglin; Li, Zhuo; Wu, Lingqian; Liang, Desheng

53

Research article

Rapid and sensitive Cas12a-based one-step nucleic acid detection with ssDNA-modified crRNA

ANALYTICA CHIMICA ACTA

Zeng, Qinlong; Zhou, Miaojin; Hu, Zhiqing; Deng, Weiheng; Li, Zhuo; Wu, Lingqian; Liang, Desheng

54

Research article

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing

THROMBOSIS AND HAEMOSTASIS

Liu, Yingdi; Li, Dongzhi; Yu, Dongyi; Liang, Qiaowei; Chen, Guilan; Li, Fucheng; Gao, Lu; Li, Zhuo; Xie, Tiantian; Wu, Le; Mao, Aiping; Wu, Lingqian; Liang, Desheng

55

Research article

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

FRONTIERS IN GENETICS

Liu, Jing; Wang, Zhongjie; Yan, Huiming; Teng, Yanling; Shi, Qingxin; Chen, Jing; Tang, Wanglan; Yu, Wenxian; Peng, Ying; Xi, Hui; Ma, Na; Liang, Desheng; Li, Zhuo; Wu, Lingqian

56

Research article

CRISPR-Mediated In Situ Introduction or Integration of F9-Padua in Human iPSCs for Gene Therapy of Hemophilia B

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Tang, Qiyu; Hu, Zhiqing; Zhao, Junya; Zhou, Tao; Tang, Shuqing; Wang, Peiyun; Xiao, Rou; Chen, Yan; Wu, Lingqian; Zhou, Miaojin; Liang, Desheng

57

Research article

Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

BMC PREGNANCY AND CHILDBIRTH

Yuan, Xiying; Wang, Weinan; Dai, Lei; Yong, Wenjing; Pei, Chenlin; Li, Jingzhi; Wu, Lingqian

58

Research article

Correction of F8 intron 1 inversion in hemophilia A patient-specific iPSCs by CRISPR/Cas9 mediated gene editing

FRONTIERS IN GENETICS

Hu, Zhiqing; Wu, Yong; Xiao, Rou; Zhao, Junya; Chen, Yan; Wu, Lingqian; Zhou, Miaojin; Liang, Desheng

59

Research article

Preimplantation genetic testing guidelines of International Society of Reproductive Genetics

REPRODUCTIVE AND DEVELOPMENTAL MEDICINE

Xu, Chen-Ming; Lu, Si-Jia; Chen, Song-Chang; Zhang, Jing-Lan; Xu, Cong-Jian; Gao, Yuan; Shen, Yi-Ping; Cao, Yun-Xia; Wu, Ling-Qian; Jin, Fan; Lin, Ge; Liu, Ping; Zhu, Yi-Min; Wu, Yan-Ting; Zhang, Dan; Yee, Bill; Kushnir, Vitaly A.; Yang, Zhi-Hong; Liu, Jia-Yin; Chen, Zi-Jiang; Thornhill, Alan; Beltsos, Angie N.; Smitz, Johan; Frattarelli, John; Handyside, Alan; Qiao, Jie; Huang, He-Feng

60

Research article

The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study

ANNALS OF TRANSLATIONAL MEDICINE

Yuan, Xiying; Yong, Wenjing; Dai, Lei; Wang, Weinan; Wu, Lingqian

61

Research article

Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia

CLINICAL CHEMISTRY

Liang, Qiaowei; He, Jun; Li, Qing; Zhou, Yulin; Liu, Yanqiu; Li, Youqiong; Tang, Lingfang; Huang, Shengwen; Li, Rong; Zeng, Fanqian; Mao, Aiping; Liu, Yinyin; Liang, Desheng; Wu, Lingqian

62

Research article

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family

FRONTIERS IN GENETICS

Zhang, Li; Teng, Yanling; Hu, Haoran; Zhu, Huimin; Wen, Juan; Liang, Desheng; Li, Zhuo; Wu, Lingqian

63

Research article

Chromosomal concordance between babies produced by the preimplantation genetic testing for aneuploidies and trophectoderm biopsies: A prospective observational study

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY

Yao, Zhongyuan; Wang, Xiaoxia; Zeng, Jun; Zhao, Jing; Xia, Qiuping; Zhang, Lei; Wu, Lingqian; Li, Yanping

64

Research article

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Li, Menglin; Li, Zhuo; Chen, Miaomiao; Hu, Zhiqing; Zhou, Miaojin; Wu, Lingqian; Zhang, Chunhua; Liang, Desheng

65

Research article

CLK2 mediates IκBα-independent early termination of NF-κB activation by inducing cytoplasmic redistribution and degradation

Nat Commun

Shang-Ze Li, Qi-Peng Shu, Hai-Meng Zhou, Yu-Ying Liu, Meng-Qi Fan, Xin-Yi Liang, Lin-Zhi Qi, Ya-Nan He, Xue-Yi Liu, Xue-Hua Du, Xi-Chen Huang, Yu-Zhen Chen, Run-Lei Du, Yue-Xiu Liang, Xiao-Dong Zhang

66

Research article

CATAD: exploring topologically associating domains from an insight of core-attachment structure

Briefings in Bioinformatics

X Peng, Y Li, M Zou, X Kong, Y Sheng

67

Research article

Characterization of mitochondrial DNA methylation of alzheimer’s disease in plasma cell-free DNA

Diagnostics

B Ding, X Zhang, Z Wan, F Tian, J Ling, J Tan, X Peng

68

Research article

scGRN: a comprehensive single-cell gene regulatory network platform of human and mouse.

Nucleic Acids Res

Huang X#, Song C#, Zhang G#, Li Y#, Zhao Y, Zhang Q, Zhang Y, Fan S, Zhao J, Xie L,Li C*.

69

Research article

scATAC-Ref: a reference of scATAC-seq with known cell labels in multiple species.

Nucleic Acids Res

Qian FC#, Zhou LW#, Zhu YB#, Li YY, Yu ZM, Feng CC, Fang QL, Zhao Y, Cai FH, Wang QY, Tang HF*,Li C*

70

Research article

eRNAbase: a comprehensive database for decoding the regulatory eRNAs in human and mouse.

Nucleic Acids Res

Song C#, Zhang G#, Mu X#, Feng C#, Zhang Q, Song S, Zhang Y, Yin M, Zhang H, Tang H*,Li C*

71

Research article

KnockTF 2.0: a comprehensive gene expression profile database with knockdown/knockout of transcription (co-)factors in multiple species.

Nucleic Acids Res

Feng C#, Song C#, Song S#, Zhang G, Yin M, Zhang Y, Qian F, Wang Q, Guo M*,Li C*.

72

Research article

LncSEA 2.0: an updated platform for long non-coding RNA related sets and enrichment analysis.

Nucleic Acids Res

Zhang G#, Song C#, Fan S#, Yin M#, Wang X, Zhang Y, Huang X, Li Y, Shang D*,Li C*, Wang Q*

73

Review

网格蛋白介导型胞吞作用的分子机制研究和

抑制剂开发进展

中国科学:生命科学

韩璐, 贺樟平, 杨紫雁,陈志明

74

Review

Dynamin及其家族蛋白的功能

生物化学与生物物理进展

杨紫雁,蒋昭泓,周倩仪,陈志明

75

Research article

A novel endophytic fungus strain of Cladosporium: its identification, genomic analysis, and effects on plant growth

Frontiers in Microbiology

Nan Yang, Wenbin Zhang, Dan Wang, Dingding Cao,

Yanyu Cao, Weihong He, Ziting Lin, Xiaofeng Chen,

Guiping Ye, Zhiming Chen, Jianjun Chen and Xiangying Wei

76

Research article

The decreased astrocyte-microglia interaction reflects the early characteristics of Alzheimer’s disease

iScience

Kefu Liu, Ailikemu Aierken, Mengyao Liu, Nazakat Parhat, Wei Kong, Xingyu Yin, Gang Liu, Ding Yu, Jie Hong, Junjun Ni, Zhenzhen Quan, Xiaoyun Liu, Simei Ji, Jian Mao, Weijun Peng, Chao Chen, Yan Yan, Hong Qing

77

Research article

Co-Analysis of Serum and Urine Differentially Expressed Proteins in Mucopolysaccharidosis Type I

Journal of proteome research

Kefu Liu, Gefan Wan, Yongcong Li, Zhenlong Liang, Yan Meng, Xiaozhou Yuan, Jinyan Duan

78

Research article

Discovery of novel small molecules targeting the USP21/JAK2/STAT3 axis for the treatment of triple-negative breast cancer

European journal of medicinal chemistry

Long, Lin; Xu, Jiachi; Qi, Xiaowen; Pen, Yan; Wang, Chengkun; Jiang, Weifan; Peng, Xue; Hu, Zecheng; Yi, Wenjun; Xie, Liming; Lei, Xiaoyong; Wang, Zhen; Zhuo, Linsheng

79

Research article

Two novel TMEM67variations in a Chinese family with recurrent pregnancy loss: a case report

BMC Medical Genomics

Jialun Pang , Fanjuan Kong , Wanglan Tang , Hui Xi , Na Ma , Xiaoqi Sheng , Ying Peng , Zhiyu Liu

80

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